#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
A2M	2	genome.wustl.edu	37	12	9252079	9252079	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:9252079G>A	ENST00000318602.7	-	14	1906	c.1599C>T	c.(1597-1599)gaC>gaT	p.D533D		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	533					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CAGGAGCAATGTCTGACTTCA	0.448																																																	0													67.0	63.0	64.0					12																	9252079		1919	4148	6067	SO:0001819	synonymous_variant	0			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1599C>T	12.37:g.9252079G>A			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.D533	ENST00000318602.7	37	c.1599	CCDS44827.1	12																																																																																			A2M	-	pfam_A2M_N_2	ENSG00000175899		0.448	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	-	0.00	29	0	G	NM_000014		9252079	-1	tier1	-	no_errors	ENST00000318602	ensembl	human	known	74_37	silent	28.57	30	12	SNP	0.998	A
AADACL3	126767	genome.wustl.edu	37	1	12785494	12785494	+	Frame_Shift_Del	DEL	G	G	-	rs7513079	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:12785494delG	ENST00000359318.5	+	4	789	c.584delG	c.(583-585)tgtfs	p.C195fs	AADACL3_ENST00000332530.3_Frame_Shift_Del_p.C125fs	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195			C -> F (in dbSNP:rs7513079). {ECO:0000269|PubMed:14702039}.				hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGCTACTGTTTTTTTCAA	0.458																																																	0													148.0	137.0	140.0					1																	12785494		1854	4094	5948	SO:0001589	frameshift_variant	0				CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.584delG	1.37:g.12785494delG	ENSP00000352268:p.Cys195fs		B3KXR9|Q5VUY1	Frame_Shift_Del	DEL	pfam_AB_hydrolase_3	p.C195fs	ENST00000359318.5	37	c.584	CCDS41253.1	1																																																																																			AADACL3	-	NULL	ENSG00000188984		0.458	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL3	HGNC	protein_coding	OTTHUMT00000005324.2		0.00	31	0	G	NM_001103170		12785494	+1	tier1		no_errors	ENST00000359318	ensembl	human	known	74_37	frame_shift_del	44.74	21	17	DEL	0.040	-
AAK1	22848	genome.wustl.edu	37	2	69741763	69741765	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:69741763_69741765delTGC	ENST00000409085.4	-	13	1990_1992	c.1614_1616delGCA	c.(1612-1617)cagcaa>caa	p.538_539QQ>Q	AAK1_ENST00000409068.1_In_Frame_Del_p.538_539QQ>Q|AAK1_ENST00000406297.3_In_Frame_Del_p.538_539QQ>Q|RN7SL604P_ENST00000492589.2_RNA	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	538	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)	p.Q538Q(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ctgttgttgttgctgctgctgct	0.542																																																	2	Substitution - coding silent(2)	kidney(2)																																								SO:0001651	inframe_deletion	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1614_1616delGCA	2.37:g.69741772_69741774delTGC	ENSP00000386456:p.Gln546del		Q4ZFZ3|Q53RX6|Q9UPV4	In_Frame_Del	DEL	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.Q542in_frame_del	ENST00000409085.4	37	c.1616_1614	CCDS1893.2	2																																																																																			AAK1	-	NULL	ENSG00000115977		0.542	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4		0.00	77	0	TGC	NM_014911		69741765	-1	tier1		no_errors	ENST00000409085	ensembl	human	known	74_37	in_frame_del	11.97	103	14	DEL	1.000:1.000:0.998	-
AARS2	57505	genome.wustl.edu	37	6	44269193	44269193	+	Frame_Shift_Del	DEL	C	C	-	rs498512	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:44269193delC	ENST00000244571.4	-	20	2609	c.2607delG	c.(2605-2607)aagfs	p.K870fs	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTGAGTTTTCTTTGCAGCCT	0.572																																																	0													65.0	71.0	69.0					6																	44269193		2203	4300	6503	SO:0001589	frameshift_variant	0			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2607delG	6.37:g.44269193delC	ENSP00000244571:p.Lys870fs			Frame_Shift_Del	DEL	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.T871fs	ENST00000244571.4	37	c.2607	CCDS34464.1	6																																																																																			AARS2	-	tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000124608		0.572	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2		0.00	54	0	C	NM_020745		44269193	-1	tier1		no_errors	ENST00000244571	ensembl	human	known	74_37	frame_shift_del	30.51	41	18	DEL	0.008	-
ABCA1	19	genome.wustl.edu	37	9	107587912	107587912	+	Intron	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:107587912A>G	ENST00000374736.3	-	17	2937				ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCACAAAGAAAGGACATCAGC	0.468																																																	0													47.0	44.0	45.0					9																	107587912		876	1991	2867	SO:0001627	intron_variant	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2542+51T>C	9.37:g.107587912A>G			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	RNA	SNP	-	NULL	ENST00000374736.3	37	NULL	CCDS6762.1	9																																																																																			ABCA1	-	-	ENSG00000165029		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	-	0.00	41	0	A	NM_005502		107587912	-1	tier1	-	no_errors	ENST00000494467	ensembl	human	known	74_37	rna	72.41	8	21	SNP	0.334	G
ABCA4	24	genome.wustl.edu	37	1	94506867	94506867	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:94506867G>T	ENST00000370225.3	-	23	3506	c.3420C>A	c.(3418-3420)tgC>tgA	p.C1140*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1140	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTGCCTGAGCAGTAGAGCC	0.542																																																	0													131.0	117.0	122.0					1																	94506867		2203	4300	6503	SO:0001587	stop_gained	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3420C>A	1.37:g.94506867G>T	ENSP00000359245:p.Cys1140*		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.C1140*	ENST00000370225.3	37	c.3420	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.192060	0.99355	.	.	ENSG00000198691	ENST00000370225	.	.	.	5.84	3.98	0.46160	.	0.084433	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7296	0.46089	0.204:0.0:0.796:0.0	.	.	.	.	X	1140	.	ENSP00000359245:C1140X	C	-	3	2	ABCA4	94279455	1.000000	0.71417	0.906000	0.35671	0.939000	0.58152	5.807000	0.69157	0.811000	0.34303	-0.137000	0.14449	TGC	ABCA4	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	ENSG00000198691		0.542	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	-	0.00	72	0	G	NM_000350		94506867	-1	tier1	-	no_errors	ENST00000370225	ensembl	human	known	74_37	nonsense	58.00	42	58	SNP	1.000	T
ABCB4	5244	genome.wustl.edu	37	7	87074282	87074282	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:87074282delA	ENST00000265723.4	-	10	1126	c.1015delT	c.(1015-1017)tcafs	p.S339fs	ABCB4_ENST00000545634.1_Frame_Shift_Del_p.S339fs|ABCB4_ENST00000453593.1_Frame_Shift_Del_p.S339fs|ABCB4_ENST00000358400.3_Frame_Shift_Del_p.S339fs|ABCB4_ENST00000359206.3_Frame_Shift_Del_p.S339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	339	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S339fs*3(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATTAGGATTGAAAAAAAAACC	0.348																																																	1	Deletion - Frameshift(1)	lung(1)	GRCh37	CD034702	ABCB4	D							56.0	53.0	54.0					7																	87074282		2203	4300	6503	SO:0001589	frameshift_variant	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1015delT	7.37:g.87074282delA	ENSP00000265723:p.Ser339fs		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Del	DEL	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.S339fs	ENST00000265723.4	37	c.1015	CCDS5606.1	7																																																																																			ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000005471		0.348	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1		0.00	25	0	A	NM_000443		87074282	-1	tier1		no_errors	ENST00000265723	ensembl	human	known	74_37	frame_shift_del	30.00	35	15	DEL	1.000	-
ABCB1	5243	genome.wustl.edu	37	7	87214954	87214954	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:87214954C>T	ENST00000265724.3	-	5	577	c.160G>A	c.(160-162)Gga>Aga	p.G54R	ABCB1_ENST00000543898.1_Missense_Mutation_p.G54R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	54	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCCAAAGTTCCCACCACCATA	0.388																																																	0													78.0	81.0	80.0					7																	87214954		2203	4300	6503	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.160G>A	7.37:g.87214954C>T	ENSP00000265724:p.Gly54Arg		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.G54R	ENST00000265724.3	37	c.160	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063580	0.55432	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	D;D	0.91577	-2.7;-2.87	5.72	5.72	0.89469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96990	0.9017	H	0.96633	3.855	0.44366	D	0.99726	D;D	0.89917	1.0;1.0	D;D	0.97110	0.983;1.0	D	0.97924	1.0316	10	0.87932	D	0	-18.6143	15.3886	0.74723	0.0:1.0:0.0:0.0	.	54;54	B5AK60;P08183	.;MDR1_HUMAN	R	54	ENSP00000265724:G54R;ENSP00000444095:G54R	ENSP00000265724:G54R	G	-	1	0	ABCB1	87052890	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	3.949000	0.56668	2.700000	0.92200	0.563000	0.77884	GGA	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000085563		0.388	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	-	0.00	35	0	C	NM_000927		87214954	-1	tier1	-	no_errors	ENST00000265724	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	T
ABCC11	85320	genome.wustl.edu	37	16	48218359	48218359	+	Missense_Mutation	SNP	C	C	T	rs553813897	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:48218359C>T	ENST00000394747.1	-	22	3599	c.3250G>A	c.(3250-3252)Gtg>Atg	p.V1084M	ABCC11_ENST00000394748.1_Missense_Mutation_p.V1084M|ABCC11_ENST00000356608.2_Missense_Mutation_p.V1084M|ABCC11_ENST00000353782.5_Missense_Mutation_p.V1084M|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1084	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	ACCTGCAGCACGATGTTGACA	0.562													C|||	2	0.000399361	0.0	0.0	5008	,	,		19334	0.002		0.0	False		,,,				2504	0.0																0													86.0	83.0	84.0					16																	48218359		2201	4300	6501	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3250G>A	16.37:g.48218359C>T	ENSP00000378230:p.Val1084Met		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V1084M	ENST00000394747.1	37	c.3250	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	C	8.869	0.948878	0.18356	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.07	2.94	0.34122	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, transmembrane domain (1);	0.587434	0.17043	N	0.189251	D	0.85111	0.5622	L	0.59436	1.845	0.24767	N	0.992899	D;P	0.54397	0.966;0.651	B;B	0.41813	0.367;0.227	T	0.77099	-0.2713	10	0.72032	D	0.01	-11.0941	7.8373	0.29378	0.0:0.8424:0.0:0.1576	.	1084;1084	Q96J66-2;Q96J66	.;ABCCB_HUMAN	M	1084	ENSP00000311326:V1084M;ENSP00000349017:V1084M;ENSP00000378231:V1084M;ENSP00000378230:V1084M	ENSP00000311326:V1084M	V	-	1	0	ABCC11	46775860	0.001000	0.12720	0.012000	0.15200	0.018000	0.09664	0.243000	0.18106	0.405000	0.25532	0.563000	0.77884	GTG	ABCC11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom	ENSG00000121270		0.562	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	-	0.00	35	0	C	NM_032583		48218359	-1	tier1	-	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	21.82	43	12	SNP	0.074	T
ABCC4	10257	genome.wustl.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:95696016delT	ENST00000376887.4	-	29	3769	c.3655delA	c.(3655-3657)atcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTCTCCCGGATTTTTTTTTGT	0.378																																																	0													105.0	104.0	104.0					13																	95696016		2203	4300	6503	SO:0001589	frameshift_variant	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3655delA	13.37:g.95696016delT	ENSP00000366084:p.Ile1219fs		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Frame_Shift_Del	DEL	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM	p.I1219fs	ENST00000376887.4	37	c.3655	CCDS9474.1	13																																																																																			ABCC4	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000125257		0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2		0.00	46	0	T	NM_005845		95696016	-1	tier1		no_errors	ENST00000376887	ensembl	human	known	74_37	frame_shift_del	16.46	66	13	DEL	1.000	-
ABCD2	225	genome.wustl.edu	37	12	39947725	39947725	+	Missense_Mutation	SNP	C	C	T	rs572444310		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:39947725C>T	ENST00000308666.3	-	10	2347	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	738					fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TAAGATGTCTCATCTTCATTT	0.318																																																	0													49.0	46.0	47.0					12																	39947725		2201	4298	6499	SO:0001583	missense	0			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.2212G>A	12.37:g.39947725C>T	ENSP00000310688:p.Glu738Lys		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.E738K	ENST00000308666.3	37	c.2212	CCDS8734.1	12	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910408	0.17833	.	.	ENSG00000173208	ENST00000308666	D	0.94280	-3.39	4.44	1.51	0.23008	.	1.245250	0.05397	N	0.539993	D	0.83677	0.5306	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.71255	-0.4647	9	.	.	.	-27.193	5.0879	0.14693	0.4313:0.3978:0.0:0.1709	.	738	Q9UBJ2	ABCD2_HUMAN	K	738	ENSP00000310688:E738K	.	E	-	1	0	ABCD2	38233992	0.514000	0.26202	0.083000	0.20561	0.725000	0.41563	1.251000	0.32862	0.198000	0.20407	0.563000	0.77884	GAG	ABCD2	-	NULL	ENSG00000173208		0.318	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD2	HGNC	protein_coding	OTTHUMT00000403591.1	-	0.00	46	0	C	NM_005164		39947725	-1	tier1	-	no_errors	ENST00000308666	ensembl	human	known	74_37	missense	58.33	15	21	SNP	0.407	T
ABHD16B	140701	genome.wustl.edu	37	20	62494101	62494101	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:62494101C>T	ENST00000369916.3	+	1	1536	c.1208C>T	c.(1207-1209)gCa>gTa	p.A403V	TPD52L2_ENST00000348257.5_5'Flank|TPD52L2_ENST00000351424.4_5'Flank|TPD52L2_ENST00000217121.5_5'Flank|TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000352482.4_5'Flank|TPD52L2_ENST00000358548.4_5'Flank|C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000346249.4_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	403							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						TCCTACCGTGCACGCTGCGAA	0.736																																																	0													11.0	10.0	10.0					20																	62494101		1969	3791	5760	SO:0001583	missense	0				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.1208C>T	20.37:g.62494101C>T	ENSP00000358932:p.Ala403Val			Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.A403V	ENST00000369916.3	37	c.1208	CCDS13539.1	20	.	.	.	.	.	.	.	.	.	.	C	5.629	0.300723	0.10678	.	.	ENSG00000183260	ENST00000369916	T	0.46451	0.87	4.65	0.0225	0.14133	.	1.158010	0.06226	N	0.687775	T	0.28466	0.0704	L	0.34521	1.04	0.09310	N	1	B	0.24092	0.097	B	0.22601	0.04	T	0.30650	-0.9971	10	0.51188	T	0.08	-8.4404	1.421	0.02312	0.3622:0.343:0.1308:0.164	.	403	Q9H3Z7	ABHGB_HUMAN	V	403	ENSP00000358932:A403V	ENSP00000358932:A403V	A	+	2	0	ABHD16B	61964545	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.452000	0.21795	0.064000	0.16427	-0.189000	0.12847	GCA	ABHD16B	-	NULL	ENSG00000183260		0.736	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16B	HGNC	protein_coding	OTTHUMT00000080254.1		0.00	28	0	C			62494101	+1			no_errors	ENST00000369916	ensembl	human	known	74_37	missense	13.33	39	6	SNP	0.002	T
ABLIM1	3983	genome.wustl.edu	37	10	116203872	116203872	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:116203872A>G	ENST00000277895.5	-	17	1946	c.1849T>C	c.(1849-1851)Ttg>Ctg	p.L617L	ABLIM1_ENST00000369266.3_Silent_p.L294L|ABLIM1_ENST00000369253.2_Silent_p.L240L|ABLIM1_ENST00000533213.2_Silent_p.L557L|ABLIM1_ENST00000369252.4_Silent_p.L557L|ABLIM1_ENST00000392952.3_Silent_p.L294L	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	617					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTCAAGATCAACTGTCCCAGG	0.423																																																	0													120.0	118.0	119.0					10																	116203872		2203	4300	6503	SO:0001819	synonymous_variant	0			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1849T>C	10.37:g.116203872A>G			A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.L617	ENST00000277895.5	37	c.1849	CCDS7590.1	10																																																																																			ABLIM1	-	NULL	ENSG00000099204		0.423	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABLIM1	HGNC	protein_coding	OTTHUMT00000050469.3	-	0.00	41	0	A			116203872	-1	tier1	-	no_errors	ENST00000277895	ensembl	human	known	74_37	silent	31.25	33	15	SNP	1.000	G
ABR	29	genome.wustl.edu	37	17	910416	910416	+	Missense_Mutation	SNP	C	C	T	rs111816976		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:910416C>T	ENST00000302538.5	-	22	2625	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	ABR_ENST00000291107.2_Missense_Mutation_p.V790I|ABR_ENST00000544583.2_Missense_Mutation_p.V781I|ABR_ENST00000543210.2_Missense_Mutation_p.V278I|ABR_ENST00000536794.2_Missense_Mutation_p.V609I|ABR_ENST00000574437.1_Missense_Mutation_p.V781I|ABR_ENST00000572441.1_Intron	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	827	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGCGCCATGACGTCATGGGAC	0.662																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)												0													135.0	106.0	116.0					17																	910416		2203	4300	6503	SO:0001583	missense	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2479G>A	17.37:g.910416C>T	ENSP00000303909:p.Val827Ile		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.V827I	ENST00000302538.5	37	c.2479	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.299934	0.95574	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	T;T;T;T;T	0.24723	1.85;1.88;1.84;3.1;2.95	6.17	6.17	0.99709	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	L	0.50333	1.59	0.50632	D	0.999888	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.999;0.995	D;D;D;P;P	0.73708	0.929;0.981;0.981;0.899;0.76	T	0.17776	-1.0358	10	0.56958	D	0.05	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	609;278;790;737;827	B7Z683;F5H3S2;Q12979-2;B7Z2X0;Q12979	.;.;.;.;ABR_HUMAN	I	827;781;790;609;278	ENSP00000303909:V827I;ENSP00000442048:V781I;ENSP00000291107:V790I;ENSP00000437429:V609I;ENSP00000445198:V278I	ENSP00000291107:V790I	V	-	1	0	ABR	857166	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.811000	0.86092	2.941000	0.99782	0.655000	0.94253	GTC	ABR	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000159842		0.662	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	-	0.00	26	0	C			910416	-1	tier1	rs111816976	no_errors	ENST00000302538	ensembl	human	known	74_37	missense	47.17	28	25	SNP	1.000	T
ACAT1	38	genome.wustl.edu	37	11	108004588	108004588	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:108004588delT	ENST00000265838.4	+	3	253	c.162delT	c.(160-162)tctfs	p.S54fs	ACAT1_ENST00000299355.6_Frame_Shift_Del_p.S54fs	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	54					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	CCATTGGATCTTTTTTAGGCA	0.408																																																	0													117.0	107.0	111.0					11																	108004588		2201	4298	6499	SO:0001589	frameshift_variant	0			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.162delT	11.37:g.108004588delT	ENSP00000265838:p.Ser54fs		B2R6H1|G3XAB4|Q96FG8	Frame_Shift_Del	DEL	pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.L56fs	ENST00000265838.4	37	c.162	CCDS8339.1	11																																																																																			ACAT1	-	pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000075239		0.408	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	HGNC	protein_coding	OTTHUMT00000389474.1		0.00	69	0	T	NM_000019		108004588	+1	tier1		no_errors	ENST00000265838	ensembl	human	known	74_37	frame_shift_del	19.59	78	19	DEL	1.000	-
ACOX3	8310	genome.wustl.edu	37	4	8398737	8398737	+	Missense_Mutation	SNP	C	C	T	rs528832606		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:8398737C>T	ENST00000356406.5	-	9	1060	c.983G>A	c.(982-984)cGc>cAc	p.R328H	ACOX3_ENST00000503233.1_Missense_Mutation_p.R328H|ACOX3_ENST00000413009.2_Missense_Mutation_p.R328H	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	328					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.R328H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGCTGAGAAGCGAAGAGCGAT	0.577																																																	1	Substitution - Missense(1)	endometrium(1)											90.0	87.0	88.0					4																	8398737		2203	4300	6503	SO:0001583	missense	0			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.983G>A	4.37:g.8398737C>T	ENSP00000348775:p.Arg328His		Q96AJ8	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.R328H	ENST00000356406.5	37	c.983	CCDS3401.1	4	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931744	0.92389	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.73258	-0.73;-0.73;-0.73	5.0	5.0	0.66597	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.93939	3.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.972;0.988;0.993	D	0.91453	0.5183	10	0.87932	D	0	-29.8753	17.064	0.86555	0.0:1.0:0.0:0.0	.	328;328;328	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	H	328	ENSP00000413994:R328H;ENSP00000348775:R328H;ENSP00000421625:R328H	ENSP00000348775:R328H	R	-	2	0	ACOX3	8449637	1.000000	0.71417	0.076000	0.20297	0.919000	0.55068	6.713000	0.74686	2.308000	0.77769	0.609000	0.83330	CGC	ACOX3	-	pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000087008		0.577	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX3	HGNC	protein_coding	OTTHUMT00000206997.4	-	0.00	54	0	C			8398737	-1	tier1	-	no_errors	ENST00000356406	ensembl	human	known	74_37	missense	60.47	34	52	SNP	0.997	T
ACSM2A	123876	genome.wustl.edu	37	16	20491948	20491948	+	Silent	SNP	A	A	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:20491948A>C	ENST00000573854.1	+	11	1449	c.1335A>C	c.(1333-1335)ggA>ggC	p.G445G	ACSM2A_ENST00000396104.2_Silent_p.G445G|ACSM2A_ENST00000417235.2_Silent_p.G366G|ACSM2A_ENST00000219054.6_Silent_p.G445G|ACSM2A_ENST00000575690.1_Silent_p.G445G|ACSM2A_ENST00000536134.1_Silent_p.G217G|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	445					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCTCCTTGGAGACCGGGGAA	0.488																																																	0													76.0	66.0	70.0					16																	20491948		2202	4295	6497	SO:0001819	synonymous_variant	0			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1335A>C	16.37:g.20491948A>C			B3KTT9|O75202	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.G445	ENST00000573854.1	37	c.1335	CCDS32401.1	16																																																																																			ACSM2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000183747		0.488	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	HGNC	protein_coding	OTTHUMT00000436764.1	-	0.00	57	0	A	NM_001010845		20491948	+1	tier1	-	no_errors	ENST00000219054	ensembl	human	known	74_37	silent	62.92	33	56	SNP	0.999	C
ACSS2	55902	genome.wustl.edu	37	20	33496668	33496671	+	Intron	DEL	AAAA	AAAA	-	rs78383253		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:33496668_33496671delAAAA	ENST00000360596.2	+	3	585				ACSS2_ENST00000336325.4_Intron|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2						acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ccatcttgggaaaaaaaaaaaaaa	0.436																																																	0																																										SO:0001627	intron_variant	0			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.375-4228AAAA>-	20.37:g.33496676_33496679delAAAA			A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	RNA	DEL	-	NULL	ENST00000360596.2	37	NULL	CCDS13243.1	20																																																																																			ACSS2	-	-	ENSG00000131069		0.436	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3		0.00	29	0	AAAA	NM_018677		33496671	+1	tier1		no_errors	ENST00000497927	ensembl	human	known	74_37	rna	34.92	41	22	DEL	0.005:0.007:0.007:0.006	-
ACVR2A	92	genome.wustl.edu	37	2	148677866	148677866	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:148677866G>A	ENST00000241416.7	+	8	1666	c.1030G>A	c.(1030-1032)Gcc>Acc	p.A344T	ACVR2A_ENST00000404590.1_Missense_Mutation_p.A344T|ACVR2A_ENST00000535787.1_Missense_Mutation_p.A236T	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	344	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CTTTGGGTTGGCCTTAAAATT	0.353																																																	0													91.0	95.0	94.0					2																	148677866		2203	4300	6503	SO:0001583	missense	0				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1030G>A	2.37:g.148677866G>A	ENSP00000241416:p.Ala344Thr		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.A344T	ENST00000241416.7	37	c.1030	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.708377	0.96821	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	T;T;T	0.75821	-0.97;-0.97;-0.97	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89677	0.6784	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91438	0.5171	10	0.87932	D	0	.	19.586	0.95490	0.0:0.0:1.0:0.0	.	344	P27037	AVR2A_HUMAN	T	344;236;344	ENSP00000241416:A344T;ENSP00000439988:A236T;ENSP00000384338:A344T	ENSP00000241416:A344T	A	+	1	0	ACVR2A	148394336	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.809000	0.99208	2.699000	0.92147	0.655000	0.94253	GCC	ACVR2A	-	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,prints_TGFB_receptor	ENSG00000121989		0.353	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	-	0.00	18	0	G	NM_001616		148677866	+1	tier1	-	no_errors	ENST00000241416	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	A
ACVR2A	92	genome.wustl.edu	37	2	148683686	148683686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:148683686delA	ENST00000241416.7	+	10	1939	c.1303delA	c.(1303-1305)aaafs	p.K437fs	ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.K437fs|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Frame_Shift_Del_p.K329fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	437	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTTGTGCATAAAAAAAAGAG	0.368																																																	3	Deletion - Frameshift(3)	large_intestine(2)|ovary(1)											156.0	129.0	138.0					2																	148683686		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1303delA	2.37:g.148683686delA	ENSP00000241416:p.Lys437fs		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.K437fs	ENST00000241416.7	37	c.1303	CCDS33301.1	2																																																																																			ACVR2A	-	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	ENSG00000121989		0.368	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1		0.00	44	0	A	NM_001616		148683686	+1	tier1		no_errors	ENST00000241416	ensembl	human	known	74_37	frame_shift_del	29.73	52	22	DEL	1.000	-
ADAD1	132612	genome.wustl.edu	37	4	123342535	123342535	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:123342535A>G	ENST00000296513.2	+	12	1792	c.1607A>G	c.(1606-1608)cAt>cGt	p.H536R	ADAD1_ENST00000388724.2_Missense_Mutation_p.H525R|ADAD1_ENST00000388725.2_Missense_Mutation_p.H518R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	536	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGTACATATCATGCAGCTAAG	0.338																																																	0													66.0	64.0	65.0					4																	123342535		2203	4300	6503	SO:0001583	missense	0			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1607A>G	4.37:g.123342535A>G	ENSP00000296513:p.His536Arg		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.H536R	ENST00000296513.2	37	c.1607	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	A	8.883	0.952058	0.18431	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93076	-3.16;-3.16;-3.16	4.93	3.66	0.41972	Adenosine deaminase/editase (3);	0.178290	0.48767	D	0.000164	D	0.83248	0.5213	N	0.13140	0.3	0.36159	D	0.848002	B;B	0.21688	0.004;0.059	B;B	0.17098	0.012;0.017	T	0.78583	-0.2148	10	0.21540	T	0.41	-20.6261	6.0051	0.19541	0.7697:0.0:0.0826:0.1477	.	525;536	Q96M93-2;Q96M93	.;ADAD1_HUMAN	R	536;525;518	ENSP00000296513:H536R;ENSP00000373376:H525R;ENSP00000373377:H518R	ENSP00000296513:H536R	H	+	2	0	ADAD1	123561985	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.261000	0.51530	1.848000	0.53677	0.528000	0.53228	CAT	ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000164113		0.338	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	-	0.00	35	0	A	NM_139243		123342535	+1	tier1	-	no_errors	ENST00000296513	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	G
ADAM19	8728	genome.wustl.edu	37	5	156946869	156946869	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:156946869T>C	ENST00000517905.1	-	6	622	c.578A>G	c.(577-579)cAg>cGg	p.Q193R	ADAM19_ENST00000257527.4_Missense_Mutation_p.Q193R|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.Q195R			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	193					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCTTGGTCTGTTGTGTAAA	0.532																																																	0													96.0	102.0	100.0					5																	156946869		2203	4300	6503	SO:0001583	missense	0			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.578A>G	5.37:g.156946869T>C	ENSP00000428654:p.Gln193Arg		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q195R	ENST00000517905.1	37	c.584		5	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375395	0.24857	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.01495	4.85;4.86;4.83	5.67	4.49	0.54785	.	0.301012	0.29046	N	0.013301	T	0.02156	0.0067	L	0.60455	1.87	0.28717	N	0.903234	B	0.16166	0.016	B	0.11329	0.006	T	0.39440	-0.9614	10	0.17832	T	0.49	.	5.1757	0.15133	0.1593:0.0829:0.0:0.7578	.	193	Q9H013-2	.	R	193;195;193	ENSP00000257527:Q193R;ENSP00000377588:Q195R;ENSP00000428654:Q193R	ENSP00000257527:Q193R	Q	-	2	0	ADAM19	156879447	0.746000	0.28272	0.992000	0.48379	0.976000	0.68499	0.247000	0.18179	0.955000	0.37878	0.533000	0.62120	CAG	ADAM19	-	NULL	ENSG00000135074		0.532	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	-	0.00	49	0	T	NM_033274		156946869	-1	tier1	-	no_errors	ENST00000394020	ensembl	human	known	74_37	missense	23.88	51	16	SNP	0.995	C
ADAM21P1	145241	genome.wustl.edu	37	14	70714016	70714016	+	RNA	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:70714016G>A	ENST00000530196.1	-	0	502					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CACAACCAGAGACTCAGGGGC	0.488																																																	0																																												0					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714016G>A				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-	ENSG00000235812		0.488	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	-	0.00	21	0	G	NG_002467		70714016	-1	tier1	-	no_errors	ENST00000530196	ensembl	human	known	74_37	rna	86.05	6	37	SNP	0.174	A
ADAM21P1	145241	genome.wustl.edu	37	14	70714259	70714259	+	RNA	SNP	A	A	G	rs7144638	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:70714259A>G	ENST00000530196.1	-	0	259					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CACCACTTCCAGGGAAGTGAA	0.527													G|||	786	0.156949	0.1505	0.085	5008	,	,		20010	0.2907		0.1262	False		,,,				2504	0.1104																0																																												0					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714259A>G				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-	ENSG00000235812		0.527	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1		0.00	23	0	A	NG_002467		70714259	-1			no_errors	ENST00000530196	ensembl	human	known	74_37	rna	9.09	60	6	SNP	0.006	G
ADAM23	8745	genome.wustl.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2337)caccccfs	p.HP778fs	ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.HP778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.HP778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455																																					Melanoma(194;1127 2130 19620 24042 27855)												2	Insertion - Frameshift(2)	ovary(2)																																								SO:0001589	frameshift_variant	0			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2340dupC	2.37:g.207460867_207460867dupC	ENSP00000264377:p.His778fs		A2RU59	Frame_Shift_Ins	INS	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.K781fs	ENST00000264377.3	37	c.2333_2334	CCDS2369.1	2																																																																																			ADAM23	-	NULL	ENSG00000114948		0.455	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2		0.00	40	0	-	NM_003812		207460861	+1	tier1		no_errors	ENST00000264377	ensembl	human	known	74_37	frame_shift_ins	19.23	63	15	INS	0.005:0.000	C
ADAMTS15	170689	genome.wustl.edu	37	11	130343039	130343039	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:130343039C>A	ENST00000299164.2	+	8	2176	c.2176C>A	c.(2176-2178)Ctg>Atg	p.L726M		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	726	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L726L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGACAACTACCTGGCTCTGAA	0.607																																																	1	Substitution - coding silent(1)	lung(1)											67.0	67.0	67.0					11																	130343039		2201	4297	6498	SO:0001583	missense	0			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2176C>A	11.37:g.130343039C>A	ENSP00000299164:p.Leu726Met		Q32MI6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8	p.L726M	ENST00000299164.2	37	c.2176	CCDS8488.1	11	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534490	0.64972	.	.	ENSG00000166106	ENST00000299164	T	0.70631	-0.5	5.67	1.2	0.21068	ADAM-TS Spacer 1 (1);	.	.	.	.	D	0.85703	0.5758	M	0.92784	3.345	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86817	0.2002	9	0.87932	D	0	.	11.6608	0.51345	0.0:0.7174:0.0:0.2826	.	726	Q8TE58	ATS15_HUMAN	M	726	ENSP00000299164:L726M	ENSP00000299164:L726M	L	+	1	2	ADAMTS15	129848249	0.610000	0.26983	0.999000	0.59377	0.978000	0.69477	0.219000	0.17641	0.355000	0.24131	-0.258000	0.10820	CTG	ADAMTS15	-	pfam_ADAM_spacer1	ENSG00000166106		0.607	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS15	HGNC	protein_coding	OTTHUMT00000385638.1	-	0.00	26	0	C	NM_139055		130343039	+1	tier1	-	no_errors	ENST00000299164	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	A
ADAMTSL1	92949	genome.wustl.edu	37	9	18680349	18680350	+	Frame_Shift_Ins	INS	-	-	G	rs199787607		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:18680349_18680350insG	ENST00000380548.4	+	11	1515_1516	c.1176_1177insG	c.(1177-1179)gggfs	p.G393fs	ADAMTSL1_ENST00000327883.7_Frame_Shift_Ins_p.G393fs|ADAMTSL1_ENST00000380566.4_Frame_Shift_Ins_p.G376fs|ADAMTSL1_ENST00000276935.6_Frame_Shift_Ins_p.G393fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	393	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCCTCGTGTGGGGGGGGCAT	0.584																																																	0									,	29,4235		0,29,2103					,	6.2	1.0			48	21,8233		0,21,4106	no	frameshift,frameshift	ADAMTSL1	NM_052866.4,NM_001040272.5	,	0,50,6209	A1A1,A1R,RR		0.2544,0.6801,0.3994	,	,		50,12468				SO:0001589	frameshift_variant	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1184dupG	9.37:g.18680357_18680357dupG	ENSP00000369921:p.Gly393fs		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Ins	INS	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt	p.I395fs	ENST00000380548.4	37	c.1176_1177	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000178031		0.584	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1		0.00	28	0	-			18680350	+1	tier1		no_errors	ENST00000327883	ensembl	human	known	74_37	frame_shift_ins	18.06	59	13	INS	1.000:1.000	G
ADAP2	55803	genome.wustl.edu	37	17	29261308	29261308	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:29261308A>C	ENST00000330889.3	+	5	838	c.503A>C	c.(502-504)aAg>aCg	p.K168T	ADAP2_ENST00000580525.1_Missense_Mutation_p.K174T	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	168	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TACTTCACAAAGGAACAGGTA	0.488																																																	1	Unknown(1)	central_nervous_system(1)											67.0	57.0	60.0					17																	29261308		2203	4300	6503	SO:0001583	missense	0			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.503A>C	17.37:g.29261308A>C	ENSP00000329468:p.Lys168Thr		Q8N4Q6|Q96SD5	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,prints_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP	p.K168T	ENST00000330889.3	37	c.503	CCDS11261.1	17	.	.	.	.	.	.	.	.	.	.	A	3.270	-0.149262	0.06585	.	.	ENSG00000184060	ENST00000330889	T	0.25749	1.78	5.72	4.64	0.57946	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.344469	0.22403	U	0.060514	T	0.50240	0.1604	M	0.84082	2.675	0.45648	D	0.99857	D;D;D	0.89917	1.0;0.989;0.972	D;D;P	0.75484	0.986;0.948;0.824	T	0.49762	-0.8905	10	0.51188	T	0.08	.	8.6115	0.33806	0.9127:0.0:0.0873:0.0	.	174;168;168	Q2V6Q1;Q9NPF8-2;Q9NPF8	.;.;ADAP2_HUMAN	T	168	ENSP00000329468:K168T	ENSP00000329468:K168T	K	+	2	0	ADAP2	26285434	1.000000	0.71417	0.412000	0.26496	0.000000	0.00434	6.697000	0.74603	0.991000	0.38814	-0.290000	0.09829	AAG	ADAP2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000184060		0.488	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAP2	HGNC	protein_coding	OTTHUMT00000256346.1	-	0.00	37	0	A	NM_018404		29261308	+1	tier1	-	no_errors	ENST00000330889	ensembl	human	known	74_37	missense	60.71	22	34	SNP	0.935	C
AZIN2	113451	genome.wustl.edu	37	1	33562406	33562406	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:33562406C>T	ENST00000294517.6	+	9	1439	c.852C>T	c.(850-852)gcC>gcT	p.A284A	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Silent_p.A284A|ADC_ENST00000373441.1_Silent_p.A284A|ADC_ENST00000358680.3_Silent_p.A126A|ADC_ENST00000373440.1_Silent_p.A126A|ADC_ENST00000398167.1_Silent_p.A284A	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		284					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TGACCTCGGCCTTCACTGTGG	0.592																																																	0													156.0	129.0	138.0					1																	33562406		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000294517.6:c.852C>T	1.37:g.33562406C>T			B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Silent	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.A284	ENST00000294517.6	37	c.852	CCDS375.1	1																																																																																			ADC	-	superfamily_Ala_racemase/Decarboxylase_C,prints_Orn/DAP/Arg_de-COase	ENSG00000142920		0.592	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	HGNC	protein_coding	OTTHUMT00000011867.1	-	0.00	36	0	C			33562406	+1	tier1	-	no_errors	ENST00000373441	ensembl	human	known	74_37	silent	37.63	58	35	SNP	0.998	T
ADH7	131	genome.wustl.edu	37	4	100340170	100340170	+	Missense_Mutation	SNP	G	G	A	rs367907552		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:100340170G>A	ENST00000209665.4	-	7	1210	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	ADH7_ENST00000437033.2_Missense_Mutation_p.R312C|ADH7_ENST00000476959.1_Missense_Mutation_p.R332C|ADH7_ENST00000482593.1_Missense_Mutation_p.R255C	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	324					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TTCCATGTGCGTCCAGTGAAG	0.542																																																	0								G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	146.0	119.0	128.0		970,994	3.7	0.0	4		128	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADH7	NM_000673.4,NM_001166504.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	324/387,332/395	100340170	1,13005	2203	4300	6503	SO:0001583	missense	0			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.970C>T	4.37:g.100340170G>A	ENSP00000209665:p.Arg324Cys		A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.R324C	ENST00000209665.4	37	c.970	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375677	0.61735	0.0	1.16E-4	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	4.53	3.69	0.42338	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.323066	0.33235	N	0.005122	T	0.54191	0.1843	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68603	-0.5365	10	0.87932	D	0	-25.7449	12.0455	0.53477	0.0847:0.0:0.9153:0.0	.	324	P40394	ADH7_HUMAN	C	312;324;255;332	ENSP00000414254:R312C;ENSP00000209665:R324C;ENSP00000420613:R255C;ENSP00000420269:R332C	ENSP00000209665:R324C	R	-	1	0	ADH7	100559193	0.971000	0.33674	0.003000	0.11579	0.451000	0.32288	3.703000	0.54808	1.123000	0.41961	0.655000	0.94253	CGC	ADH7	-	pfam_ADH_C	ENSG00000196344		0.542	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding		-	0.00	52	0	G	NM_000673		100340170	-1	tier1	-	no_errors	ENST00000209665	ensembl	human	known	74_37	missense	32.50	27	13	SNP	0.996	A
ADNP	23394	genome.wustl.edu	37	20	49508204	49508204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:49508204delT	ENST00000396029.3	-	5	3614	c.3047delA	c.(3046-3048)aagfs	p.K1016fs	ADNP_ENST00000396032.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000349014.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000371602.4_Frame_Shift_Del_p.K1016fs	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1016					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CATGGTAGCCTTTTTTTTGGC	0.458																																																	0													106.0	100.0	102.0					20																	49508204		2203	4300	6503	SO:0001589	frameshift_variant	0			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.3047delA	20.37:g.49508204delT	ENSP00000379346:p.Lys1016fs		E1P5Y2|O94881|Q5BKU2|Q9UG34	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.K1016fs	ENST00000396029.3	37	c.3047	CCDS13433.1	20																																																																																			ADNP	-	NULL	ENSG00000101126		0.458	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2		0.00	71	0	T	NM_181442		49508204	-1	tier1		no_errors	ENST00000349014	ensembl	human	known	74_37	frame_shift_del	48.98	50	48	DEL	1.000	-
AFAP1L2	84632	genome.wustl.edu	37	10	116054776	116054777	+	3'UTR	DEL	AA	AA	-	rs550504274	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:116054776_116054777delAA	ENST00000304129.4	-	0	3510_3511				AFAP1L2_ENST00000369271.3_3'UTR|AFAP1L2_ENST00000491814.1_5'UTR			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2						inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AACCTGTGttaaaaaaaaaaaa	0.381																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.*1025TT>-	10.37:g.116054786_116054787delAA			A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	RNA	DEL	-	NULL	ENST00000304129.4	37	NULL	CCDS31286.1	10																																																																																			AFAP1L2	-	-	ENSG00000169129		0.381	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1		0.00	22	0	AA	NM_032550		116054777	-1	tier1		no_errors	ENST00000491814	ensembl	human	known	74_37	rna	13.89	31	5	DEL	0.000:0.000	-
AGL	178	genome.wustl.edu	37	1	100378027	100378028	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:100378027_100378028insA	ENST00000294724.4	+	29	4381_4382	c.3903_3904insA	c.(3904-3906)aaafs	p.K1302fs	AGL_ENST00000361302.3_Frame_Shift_Ins_p.K1286fs|AGL_ENST00000370163.3_Frame_Shift_Ins_p.K1302fs|AGL_ENST00000361915.3_Frame_Shift_Ins_p.K1302fs|AGL_ENST00000361522.4_Frame_Shift_Ins_p.K1285fs|AGL_ENST00000370161.2_Frame_Shift_Ins_p.K1286fs|AGL_ENST00000370165.3_Frame_Shift_Ins_p.K1302fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1302					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGAATTATCCAAAAAAAATAT	0.322																																																	0									,,,,,	1,4265		0,1,2132					,,,,,	-5.7	0.0			93	1,8253		0,1,4126	no	frameshift,frameshift,frameshift,frameshift,frameshift,frameshift	AGL	NM_000646.2,NM_000645.2,NM_000644.2,NM_000643.2,NM_000642.2,NM_000028.2	,,,,,	0,2,6258	A1A1,A1R,RR		0.0121,0.0234,0.016	,,,,,	,,,,,		2,12518				SO:0001589	frameshift_variant	0			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3911dupA	1.37:g.100378035_100378035dupA	ENSP00000294724:p.Lys1302fs		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Frame_Shift_Ins	INS	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.N1303fs	ENST00000294724.4	37	c.3903_3904	CCDS759.1	1																																																																																			AGL	-	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met	ENSG00000162688		0.322	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1		0.00	56	0	-	NM_000028		100378028	+1	tier1		no_errors	ENST00000294724	ensembl	human	known	74_37	frame_shift_ins	45.16	34	28	INS	0.021:0.023	A
AGPAT1	10554	genome.wustl.edu	37	6	32138784	32138784	+	Silent	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:32138784C>A	ENST00000395499.1	-	3	843	c.264G>T	c.(262-264)ggG>ggT	p.G88G	AGPAT1_ENST00000336984.6_Silent_p.G88G|AGPAT1_ENST00000395496.1_Silent_p.G88G|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000395497.1_Silent_p.G88G|AGPAT1_ENST00000375107.3_Silent_p.G88G|AGPAT1_ENST00000412465.2_Intron|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Silent_p.G88G			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	88					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						AGTGGTGAGCCCCTCGCACCT	0.592																																																	0													100.0	94.0	96.0					6																	32138784		1509	2707	4216	SO:0001819	synonymous_variant	0			U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.264G>T	6.37:g.32138784C>A			A2BFI5|Q5BL03	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans	p.G88	ENST00000395499.1	37	c.264	CCDS4744.1	6																																																																																			AGPAT1	-	pfam_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans	ENSG00000204310		0.592	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT1	HGNC	protein_coding	OTTHUMT00000268941.1	-	0.00	29	0	C	NM_006411		32138784	-1	tier1	-	no_errors	ENST00000336984	ensembl	human	known	74_37	silent	33.33	20	10	SNP	1.000	A
AHNAK2	113146	genome.wustl.edu	37	14	105411968	105411968	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105411968T>C	ENST00000333244.5	-	7	9939	c.9820A>G	c.(9820-9822)Atg>Gtg	p.M3274V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3274						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACCTCCATGCTGGGCTGA	0.632																																																	0													105.0	75.0	84.0					14																	105411968		1897	4013	5910	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9820A>G	14.37:g.105411968T>C	ENSP00000353114:p.Met3274Val		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M3274V	ENST00000333244.5	37	c.9820	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.133628	0.00030	.	.	ENSG00000185567	ENST00000333244	T	0.00666	5.91	3.87	1.01	0.19927	.	.	.	.	.	T	0.00384	0.0012	N	0.01219	-0.95	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43310	-0.9399	9	0.27785	T	0.31	.	5.3527	0.16043	0.0:0.4976:0.2519:0.2506	.	3274	Q8IVF2	AHNK2_HUMAN	V	3274	ENSP00000353114:M3274V	ENSP00000353114:M3274V	M	-	1	0	AHNAK2	104483013	0.000000	0.05858	0.041000	0.18516	0.001000	0.01503	-2.128000	0.01314	-0.097000	0.12307	-1.929000	0.00512	ATG	AHNAK2	-	NULL	ENSG00000185567		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1		0.00	81	0	T	NM_138420		105411968	-1			no_errors	ENST00000333244	ensembl	human	known	74_37	missense	6.34	192	13	SNP	0.001	C
AHNAK2	113146	genome.wustl.edu	37	14	105411976	105411976	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105411976T>A	ENST00000333244.5	-	7	9931	c.9812A>T	c.(9811-9813)cAg>cTg	p.Q3271L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3271						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATGCTGGGCTGAGACACCTC	0.622																																																	0													100.0	74.0	83.0					14																	105411976		1867	3744	5611	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9812A>T	14.37:g.105411976T>A	ENSP00000353114:p.Gln3271Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q3271L	ENST00000333244.5	37	c.9812	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	t	2.650	-0.282264	0.05642	.	.	ENSG00000185567	ENST00000333244	T	0.00724	5.78	3.87	-2.71	0.05986	.	.	.	.	.	T	0.00210	0.0006	N	0.00072	-2.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46456	-0.9190	9	0.26408	T	0.33	.	0.4475	0.00496	0.264:0.1379:0.1956:0.4026	.	3271	Q8IVF2	AHNK2_HUMAN	L	3271	ENSP00000353114:Q3271L	ENSP00000353114:Q3271L	Q	-	2	0	AHNAK2	104483021	0.000000	0.05858	0.086000	0.20670	0.017000	0.09413	-0.197000	0.09518	0.015000	0.14971	-0.546000	0.04227	CAG	AHNAK2	-	NULL	ENSG00000185567		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1		0.00	73	0	T	NM_138420		105411976	-1			no_errors	ENST00000333244	ensembl	human	known	74_37	missense	5.53	188	11	SNP	0.000	A
AHNAK2	113146	genome.wustl.edu	37	14	105412925	105412925	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105412925G>A	ENST00000333244.5	-	7	8982	c.8863C>T	c.(8863-8865)Ctg>Ttg	p.L2955L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2955						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCACCATCCAGCTTTGCTCTC	0.617																																																	0													183.0	197.0	193.0					14																	105412925		2022	4187	6209	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8863C>T	14.37:g.105412925G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L2955	ENST00000333244.5	37	c.8863	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1		0.00	66	0	G	NM_138420		105412925	-1			no_errors	ENST00000333244	ensembl	human	known	74_37	silent	11.90	148	20	SNP	0.048	A
AHNAK2	113146	genome.wustl.edu	37	14	105412929	105412929	+	Silent	SNP	T	T	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105412929T>G	ENST00000333244.5	-	7	8978	c.8859A>C	c.(8857-8859)gcA>gcC	p.A2953A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2953						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCCAGCTTTGCTCTCGGGG	0.627																																																	0													178.0	192.0	188.0					14																	105412929		2020	4187	6207	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8859A>C	14.37:g.105412929T>G			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A2953	ENST00000333244.5	37	c.8859	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1		0.00	70	0	T	NM_138420		105412929	-1			no_errors	ENST00000333244	ensembl	human	known	74_37	silent	13.77	144	23	SNP	0.000	G
AHNAK2	113146	genome.wustl.edu	37	14	105412934	105412935	+	Missense_Mutation	DNP	TC	TC	CT	rs548525077	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105412934_105412935TC>CT	ENST00000333244.5	-	7	8972_8973	c.8853_8854GA>AG	c.(8851-8856)ccGAga>ccAGga	p.R2952G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2952						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGCTTTGCTCTCGGGGCCTCGA	0.619																																																	0																																										SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8853_8854delinsCT	14.37:g.105412934_105412935delinsCT	ENSP00000353114:p.Arg2952Gly		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation|Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R2952G|p.P2951	ENST00000333244.5	37	c.8854|c.8853	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.619	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1		0.00	65|66	0	T|C	NM_138420		105412934|105412935	-1			no_errors	ENST00000333244	ensembl	human	known	74_37	missense|silent	13.38|11.88	136|140	21|19	SNP	0.000	C|T
AHSA2	130872	genome.wustl.edu	37	2	61406203	61406203	+	5'UTR	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:61406203C>T	ENST00000394457.3	+	0	1540				AHSA2_ENST00000357022.2_5'UTR|AHSA2_ENST00000489653.1_3'UTR			Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)						response to stress (GO:0006950)		ATPase activator activity (GO:0001671)			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			CTGGCCGCGGCGAGATCAACG	0.572																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK092817	CCDS1868.1	2p14	2008-02-05			ENSG00000173209	ENSG00000173209			20437	protein-coding gene	gene with protein product						12504007	Standard	NM_152392		Approved	DKFZp564C236, Hch1	uc002sbc.2	Q719I0	OTTHUMG00000129437	ENST00000394457.3:c.-204C>T	2.37:g.61406203C>T			B3KS51|D6W5E0|Q8NDU5	RNA	SNP	-	NULL	ENST00000394457.3	37	NULL	CCDS1868.1	2																																																																																			AHSA2	-	-	ENSG00000173209		0.572	AHSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHSA2	HGNC	protein_coding	OTTHUMT00000251598.4	-	0.00	30	0	C	NM_152392		61406203	+1	tier1	-	no_errors	ENST00000489653	ensembl	human	known	74_37	rna	33.85	43	22	SNP	0.606	T
AIMP2	7965	genome.wustl.edu	37	7	6062967	6062967	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:6062967C>T	ENST00000223029.3	+	4	727	c.608C>T	c.(607-609)aCg>aTg	p.T203M	AIMP2_ENST00000395236.2_Missense_Mutation_p.T134M|EIF2AK1_ENST00000199389.6_3'UTR|AIMP2_ENST00000400479.2_Missense_Mutation_p.T125M	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	203	Interaction with TP53.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGCATCCAGACGATGTGCCCC	0.507																																																	0													103.0	97.0	99.0					7																	6062967		2203	4300	6503	SO:0001583	missense	0			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.608C>T	7.37:g.6062967C>T	ENSP00000223029:p.Thr203Met		Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like	p.T203M	ENST00000223029.3	37	c.608	CCDS5344.1	7	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855728	0.71834	.	.	ENSG00000106305	ENST00000223029;ENST00000400479;ENST00000395236	T;T;T	0.31510	1.52;1.49;1.51	5.27	1.19	0.21007	.	0.219424	0.47455	D	0.000238	T	0.37785	0.1016	L	0.57536	1.79	0.80722	D	1	D	0.59357	0.985	P	0.56916	0.809	T	0.13229	-1.0517	10	0.72032	D	0.01	-12.0898	4.4496	0.11614	0.2491:0.4078:0.2733:0.0698	.	203	Q13155	AIMP2_HUMAN	M	203;125;134	ENSP00000223029:T203M;ENSP00000383327:T125M;ENSP00000378658:T134M	ENSP00000223029:T203M	T	+	2	0	AIMP2	6029493	0.965000	0.33210	0.932000	0.37286	0.978000	0.69477	2.276000	0.43408	-0.071000	0.12886	0.555000	0.69702	ACG	AIMP2	-	NULL	ENSG00000106305		0.507	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP2	HGNC	protein_coding	OTTHUMT00000242834.2	-	0.00	65	0	C	NM_006303		6062967	+1	tier1	-	no_errors	ENST00000223029	ensembl	human	known	74_37	missense	39.22	62	40	SNP	0.972	T
AK9	221264	genome.wustl.edu	37	6	109850199	109850201	+	Intron	DEL	AAC	AAC	-	rs577355457|rs201441562|rs560850105|rs72613250|rs72331392	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAC	AAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:109850199_109850201delAAC	ENST00000424296.2	-	29	3710				AK9_ENST00000355283.1_In_Frame_Del_p.V295del|AK9_ENST00000341338.6_Intron	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										tgaaaaaaaaaacaaaaCTACTT	0.414														45	0.00898562	0.0008	0.0144	5008	,	,		17283	0.0109		0.004	False		,,,				2504	0.0194																0										1549,2713		298,953,880						0.2	0.0		dbSNP_102	51	5241,3007		1679,1883,562	no	intron	AKD1	NM_001145128.2		1977,2836,1442	A1A1,A1R,RR		36.4573,36.3444,45.7234				6790,5720				SO:0001627	intron_variant	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3633+12GTT>-	6.37:g.109850199_109850201delAAC			A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	In_Frame_Del	DEL	pfam_Adenylate_kin,pfam_YHS_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase	p.V295in_frame_del	ENST00000424296.2	37	c.885_883	CCDS55048.1	6																																																																																			AK9	-	NULL	ENSG00000155085		0.414	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding			0.00	48	0	AAC	NM_001145128		109850201	-1	tier1		no_errors	ENST00000355283	ensembl	human	novel	74_37	in_frame_del	8.47	54	5	DEL	0.003:0.000:0.000	-
AKAP7	9465	genome.wustl.edu	37	6	131481276	131481276	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:131481276delA	ENST00000431975.2	+	3	327	c.229delA	c.(229-231)aaafs	p.K79fs	AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000541650.1_Frame_Shift_Del_p.K78fs|AKAP7_ENST00000368123.4_Frame_Shift_Del_p.K57fs	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	79						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AAAGAAGAGGAAAAAAAAGAG	0.308																																																	0													51.0	51.0	51.0					6																	131481276		2203	4293	6496	SO:0001589	frameshift_variant	0			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.229delA	6.37:g.131481276delA	ENSP00000405252:p.Lys79fs		B4DUC3|Q9HCZ8	Frame_Shift_Del	DEL	pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase	p.K57fs	ENST00000431975.2	37	c.163	CCDS5142.2	6																																																																																			AKAP7	-	pfam_Kinase-A_anchor_nucl_local_sig	ENSG00000118507		0.308	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AKAP7	HGNC	protein_coding	OTTHUMT00000042209.2		0.00	43	0	A	NM_004842		131481276	+1	tier1		no_errors	ENST00000368123	ensembl	human	known	74_37	frame_shift_del	20.41	39	10	DEL	0.449	-
AKT1	207	genome.wustl.edu	37	14	105246502	105246502	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105246502C>T	ENST00000554581.1	-	2	1578	c.98G>A	c.(97-99)gGc>gAc	p.G33D	AKT1_ENST00000402615.2_Missense_Mutation_p.G33D|AKT1_ENST00000349310.3_Missense_Mutation_p.G33D|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000554848.1_Missense_Mutation_p.G33D|AKT1_ENST00000407796.2_Missense_Mutation_p.G33D|AKT1_ENST00000555528.1_Missense_Mutation_p.G33D			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	33	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AATGAAGGTGCCATCATTCTT	0.592		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0													133.0	99.0	110.0					14																	105246502		2202	4300	6502	SO:0001583	missense	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.98G>A	14.37:g.105246502C>T	ENSP00000451828:p.Gly33Asp		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.G33D	ENST00000554581.1	37	c.98	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312645	0.81358	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81854	-0.0741	10	0.87932	D	0	.	17.5048	0.87742	0.0:1.0:0.0:0.0	.	33	P31749	AKT1_HUMAN	D	33	ENSP00000451828:G33D;ENSP00000384293:G33D;ENSP00000270202:G33D;ENSP00000385326:G33D;ENSP00000450688:G33D;ENSP00000451166:G33D;ENSP00000451824:G33D	ENSP00000270202:G33D	G	-	2	0	AKT1	104317547	1.000000	0.71417	0.856000	0.33681	0.295000	0.27426	7.536000	0.82023	2.478000	0.83669	0.462000	0.41574	GGC	AKT1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000142208		0.592	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1	-	0.00	41	0	C	NM_005163		105246502	-1	tier1	-	no_errors	ENST00000349310	ensembl	human	known	74_37	missense	10.43	103	12	SNP	1.000	T
ALDOB	229	genome.wustl.edu	37	9	104189797	104189797	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:104189797G>A	ENST00000374855.4	-	5	631	c.507C>T	c.(505-507)aaC>aaT	p.N169N	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	169					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GAGCCAGGGCGTTGGCGTTTT	0.527																																																	0													99.0	77.0	85.0					9																	104189797		2203	4300	6503	SO:0001819	synonymous_variant	0			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.507C>T	9.37:g.104189797G>A			Q13741|Q13742|Q5T7D6	Silent	SNP	pfam_Aldolase_I	p.N169	ENST00000374855.4	37	c.507	CCDS6756.1	9																																																																																			ALDOB	-	pfam_Aldolase_I	ENSG00000136872		0.527	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	-	0.00	25	0	G			104189797	-1	tier1	-	no_errors	ENST00000374855	ensembl	human	known	74_37	silent	26.09	51	18	SNP	0.521	A
ALOX12B	242	genome.wustl.edu	37	17	7979514	7979514	+	Missense_Mutation	SNP	G	G	A	rs141010860		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:7979514G>A	ENST00000319144.4	-	11	1771	c.1511C>T	c.(1510-1512)gCg>gTg	p.A504V	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	504	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ATTCCACACCGCCAAGCTGTC	0.572										Multiple Myeloma(8;0.094)																																							0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	135.0	111.0	119.0		1511	2.8	0.2	17	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense	ALOX12B	NM_001139.2	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	504/702	7979514	2,13004	2203	4300	6503	SO:0001583	missense	0			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1511C>T	17.37:g.7979514G>A	ENSP00000315167:p.Ala504Val			Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.A504V	ENST00000319144.4	37	c.1511	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264359	0.39995	2.27E-4	1.16E-4	ENSG00000179477	ENST00000319144	T	0.76709	-1.04	4.98	2.81	0.32909	Lipoxygenase, C-terminal (3);	0.308672	0.34046	N	0.004319	T	0.70701	0.3254	L	0.41710	1.295	0.09310	N	1	P	0.44734	0.842	P	0.45998	0.5	T	0.62835	-0.6770	10	0.54805	T	0.06	-15.1141	7.8713	0.29567	0.0:0.2787:0.5577:0.1636	.	504	O75342	LX12B_HUMAN	V	504	ENSP00000315167:A504V	ENSP00000315167:A504V	A	-	2	0	ALOX12B	7920239	0.375000	0.25089	0.223000	0.23860	0.104000	0.19210	0.789000	0.26886	1.077000	0.40990	0.455000	0.32223	GCG	ALOX12B	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000179477		0.572	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	-	0.00	28	0	G			7979514	-1	tier1	rs141010860	no_errors	ENST00000319144	ensembl	human	known	74_37	missense	52.00	24	26	SNP	0.210	A
ALPP	250	genome.wustl.edu	37	2	233245388	233245388	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:233245388C>T	ENST00000392027.2	+	8	1190	c.921C>T	c.(919-921)gaC>gaT	p.D307D	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	307					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCACACTGGACCCCTCCCTGA	0.637																																																	0													51.0	62.0	58.0					2																	233245388		2203	4296	6499	SO:0001819	synonymous_variant	0			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.921C>T	2.37:g.233245388C>T			P05188|P06861|Q53S78|Q96DB7	Silent	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.D307	ENST00000392027.2	37	c.921	CCDS2490.1	2																																																																																			ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163283		0.637	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3	-	0.00	77	0	C	NM_001632		233245388	+1	tier1	-	no_errors	ENST00000392027	ensembl	human	known	74_37	silent	19.08	106	25	SNP	0.994	T
AMY2A	279	genome.wustl.edu	37	1	104162312	104162312	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:104162312T>C	ENST00000414303.2	+	4	714	c.650T>C	c.(649-651)aTg>aCg	p.M217T		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	217					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	TCCAAGCACATGTGGCCTGGA	0.433																																																	0													47.0	31.0	36.0					1																	104162312		2043	4014	6057	SO:0001583	missense	0			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.650T>C	1.37:g.104162312T>C	ENSP00000397582:p.Met217Thr		B9EJG1|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.M217T	ENST00000414303.2	37	c.650	CCDS783.1	1	.	.	.	.	.	.	.	.	.	.	t	15.77	2.932656	0.52866	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	D	0.98419	-4.92	2.96	2.96	0.34315	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);	0.000000	0.85682	D	0.000000	D	0.99263	0.9743	H	0.98682	4.3	0.80722	D	1	P;D	0.53462	0.728;0.96	D;D	0.78314	0.982;0.991	D	0.98839	1.0754	10	0.87932	D	0	.	11.1638	0.48531	0.0:0.0:0.0:1.0	.	217;217	B9EJG1;P04746	.;AMYP_HUMAN	T	217	ENSP00000397582:M217T	ENSP00000377509:M217T	M	+	2	0	AMY2A	103963835	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.514000	0.81750	1.339000	0.45563	0.254000	0.18369	ATG	AMY2A	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase	ENSG00000243480		0.433	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2A	HGNC	protein_coding	OTTHUMT00000030315.1	-	0.00	277	0	T	NM_000699		104162312	+1	tier1	-	no_errors	ENST00000414303	ensembl	human	known	74_37	missense	15.71	278	52	SNP	1.000	C
AMY1C	278	genome.wustl.edu	37	1	104297180	104297180	+	Missense_Mutation	SNP	A	A	T	rs200267405		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:104297180A>T	ENST00000370079.3	+	6	1002	c.938A>T	c.(937-939)aAc>aTc	p.N313I		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	313					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TTTGTGGATAACCATGACAAT	0.418																																																	0													128.0	122.0	124.0					1																	104297180		2155	4177	6332	SO:0001583	missense	0				CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"""amylase, alpha 1C; salivary"""	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.938A>T	1.37:g.104297180A>T	ENSP00000359096:p.Asn313Ile		A6NJS5|A8K8H6|Q13763|Q5T083	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.N313I	ENST00000370079.3	37	c.938	CCDS30784.1	1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759936	0.49468	.	.	ENSG00000187733	ENST00000370079	D	0.99304	-5.72	2.23	2.23	0.28157	.	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	H	0.98866	4.355	0.80722	D	1	.	.	.	.	.	.	D	0.98264	1.0500	8	0.87932	D	0	.	10.2122	0.43147	1.0:0.0:0.0:0.0	.	.	.	.	I	313	ENSP00000359096:N313I	ENSP00000359096:N313I	N	+	2	0	AMY1C	104098703	1.000000	0.71417	0.999000	0.59377	0.550000	0.35303	6.974000	0.76122	1.020000	0.39573	0.155000	0.16302	AAC	AMY1C	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase	ENSG00000187733		0.418	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1C	HGNC	protein_coding	OTTHUMT00000030375.1	-	0.00	131	0	A	NM_001008219		104297180	+1	tier1	rs200267405	no_errors	ENST00000370079	ensembl	human	known	74_37	missense	11.69	204	27	SNP	1.000	T
ANAPC15	25906	genome.wustl.edu	37	11	71822269	71822269	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:71822269A>G	ENST00000227618.4	-	3	279	c.54T>C	c.(52-54)ttT>ttC	p.F18F	ANAPC15_ENST00000538919.1_Silent_p.F18F|ANAPC15_ENST00000535503.1_Silent_p.F18F|ANAPC15_ENST00000502597.2_Intron|ANAPC15_ENST00000543050.1_Silent_p.F18F|ANAPC15_ENST00000542531.1_Silent_p.F18F|ANAPC15_ENST00000543015.1_5'Flank|ANAPC15_ENST00000538393.1_Silent_p.F18F|ANAPC15_ENST00000545680.1_Silent_p.F18F|ANAPC15_ENST00000545944.1_Silent_p.F18F|ANAPC15_ENST00000535234.1_Silent_p.F18F|ANAPC15_ENST00000543587.1_Silent_p.F18F	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15	18					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											GATCCAGATTAAACCACAGAG	0.527																																																	0													133.0	113.0	120.0					11																	71822269		2200	4293	6493	SO:0001819	synonymous_variant	0			AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"""Anaphase promoting complex subunits"""	24531	protein-coding gene	gene with protein product		614717	"""chromosome 11 open reading frame 51"""	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865	ENST00000227618.4:c.54T>C	11.37:g.71822269A>G			G3V1Q3|Q9CXK2|Q9Y269	Silent	SNP	NULL	p.F18	ENST00000227618.4	37	c.54	CCDS8210.1	11																																																																																			ANAPC15	-	NULL	ENSG00000110200		0.527	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC15	HGNC	protein_coding	OTTHUMT00000396695.1	-	0.00	57	0	A	NM_014042		71822269	-1	tier1	-	no_errors	ENST00000227618	ensembl	human	known	74_37	silent	32.99	65	32	SNP	1.000	G
ANKH	56172	genome.wustl.edu	37	5	14758594	14758594	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:14758594C>T	ENST00000284268.6	-	3	757	c.427G>A	c.(427-429)Gca>Aca	p.A143T	ANKH_ENST00000503939.1_5'Flank	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	143					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CTCACCATTGCGTCCATGAAA	0.413																																																	0													107.0	97.0	100.0					5																	14758594		2203	4300	6503	SO:0001583	missense	0			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.427G>A	5.37:g.14758594C>T	ENSP00000284268:p.Ala143Thr		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	pfam_ANKH	p.A143T	ENST00000284268.6	37	c.427	CCDS3885.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.790157	0.96945	.	.	ENSG00000154122	ENST00000284268	D	0.95885	-3.84	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.97052	0.9037	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97553	1.0093	10	0.72032	D	0.01	-32.5525	18.4049	0.90532	0.0:1.0:0.0:0.0	.	143	Q9HCJ1	ANKH_HUMAN	T	143	ENSP00000284268:A143T	ENSP00000284268:A143T	A	-	1	0	ANKH	14811594	1.000000	0.71417	0.986000	0.45419	0.949000	0.60115	7.757000	0.85209	2.588000	0.87417	0.563000	0.77884	GCA	ANKH	-	pfam_ANKH	ENSG00000154122		0.413	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKH	HGNC	protein_coding	OTTHUMT00000207063.1	-	0.00	24	0	C	NM_054027		14758594	-1	tier1	-	no_errors	ENST00000284268	ensembl	human	known	74_37	missense	15.62	108	20	SNP	1.000	T
ANKRD20A11P	391267	genome.wustl.edu	37	21	15311696	15311698	+	IGR	DEL	TTG	TTG	-	rs440492|rs547075071|rs200737926|rs201084517	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTG	TTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr21:15311696_15311698delTTG								CYP4F29P (91011 upstream) : ANKRD20A11P (4391 downstream)																							TTTTTTTTTTTTGTACAGCATAT	0.251														10	0.00199681	0.0061	0.0029	5008	,	,		12963	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001628	intergenic_variant	0																															21.37:g.15311696_15311698delTTG				RNA	DEL	-	NULL		37	NULL		21																																																																																			ANKRD20A11P	-	-	ENSG00000215559	0	0.251					ANKRD20A11P	HGNC				0.00	81	0	TTG			15311698	-1	tier1		no_errors	ENST00000428576	ensembl	human	known	74_37	rna	40.62	38	26	DEL	0.251:0.227:0.203	-
ANKRD20A19P	400110	genome.wustl.edu	37	13	24515468	24515468	+	RNA	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:24515468delT	ENST00000442969.1	-	0	1288									ankyrin repeat domain 20 family, member A19, pseudogene																		GGGAAAGCAGTTTTTTTGCCA	0.413																																																	0																																												0					13q12.12	2012-10-16			ENSG00000196593	ENSG00000196593			42737	pseudogene	pseudogene							Standard	NR_073430		Approved		uc001upb.2		OTTHUMG00000016572		13.37:g.24515468delT				RNA	DEL	-	NULL	ENST00000442969.1	37	NULL		13																																																																																			ANKRD20A19P	-	-	ENSG00000196593		0.413	ANKRD20A19P-001	KNOWN	basic	processed_transcript	ANKRD20A19P	HGNC	pseudogene	OTTHUMT00000044167.2		0.00	101	0	T			24515468	-1	tier1		no_errors	ENST00000420143	ensembl	human	known	74_37	rna	15.11	118	21	DEL	0.055	-
ANKRD26	22852	genome.wustl.edu	37	10	27332391	27332391	+	Missense_Mutation	SNP	T	T	C	rs370486658		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:27332391T>C	ENST00000376087.4	-	20	2290	c.2125A>G	c.(2125-2127)Atg>Gtg	p.M709V	ANKRD26_ENST00000376070.3_Missense_Mutation_p.M266V|ANKRD26_ENST00000436985.2_Missense_Mutation_p.M725V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	708					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATGAGCAACATAAAATTCTTG	0.358																																																	0													104.0	98.0	100.0					10																	27332391		1851	4090	5941	SO:0001583	missense	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2125A>G	10.37:g.27332391T>C	ENSP00000365255:p.Met709Val		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.M725V	ENST00000376087.4	37	c.2173	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	T	8.221	0.802444	0.16397	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.18960	2.18;2.18;2.18	4.07	-5.93	0.02254	.	0.857574	0.09945	N	0.735413	T	0.10208	0.0250	L	0.41824	1.3	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.40776	-0.9545	10	0.15066	T	0.55	.	0.4281	0.00467	0.1911:0.1931:0.2682:0.3476	.	709;708;725	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	V	266;709;725	ENSP00000365238:M266V;ENSP00000365255:M709V;ENSP00000405112:M725V	ENSP00000365238:M266V	M	-	1	0	ANKRD26	27372397	0.000000	0.05858	0.000000	0.03702	0.822000	0.46500	-0.615000	0.05597	-1.352000	0.02194	0.254000	0.18369	ATG	ANKRD26	-	NULL	ENSG00000107890		0.358	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	-	0.00	32	0	T			27332391	-1	tier1	-	no_errors	ENST00000436985	ensembl	human	known	74_37	missense	75.86	7	22	SNP	0.000	C
ANKRD28	23243	genome.wustl.edu	37	3	15765962	15765962	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:15765962T>C	ENST00000399451.2	-	7	987	c.620A>G	c.(619-621)tAt>tGt	p.Y207C	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.Y240C	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	207						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AAGAGGTGTATAAGACTTTTT	0.363																																																	0													55.0	53.0	53.0					3																	15765962		1945	4146	6091	SO:0001583	missense	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.620A>G	3.37:g.15765962T>C	ENSP00000382379:p.Tyr207Cys		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Y240C	ENST00000399451.2	37	c.719	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211257	0.79240	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.15952	2.38;2.38;2.38	5.68	5.68	0.88126	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.34077	0.0885	L	0.39245	1.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.996	T	0.02398	-1.1165	10	0.48119	T	0.1	.	15.9399	0.79745	0.0:0.0:0.0:1.0	.	240;237;207	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	C	207;240;207	ENSP00000382379:Y207C;ENSP00000373287:Y240C;ENSP00000397341:Y207C	ENSP00000373287:Y240C	Y	-	2	0	ANKRD28	15740966	1.000000	0.71417	0.341000	0.25589	0.706000	0.40770	7.997000	0.88414	2.164000	0.68074	0.528000	0.53228	TAT	ANKRD28	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.363	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	-	0.00	31	0	T	NM_015199		15765962	-1	tier1	-	no_errors	ENST00000383777	ensembl	human	known	74_37	missense	70.00	9	21	SNP	1.000	C
ANKRD30A	91074	genome.wustl.edu	37	10	37433982	37433982	+	Missense_Mutation	SNP	C	C	T	rs200974283		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:37433982C>T	ENST00000602533.1	+	8	1384	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R429W|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.R429W			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	485					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTGTGATTCTCGGGTATTGTG	0.313													.|||	1	0.000199681	0.0	0.0	5008	,	,		13529	0.001		0.0	False		,,,				2504	0.0																0								C	TRP/ARG	0,3570		0,0,1785	105.0	102.0	103.0		1285	0.1	0.1	10		103	2,8134		0,2,4066	no	missense	ANKRD30A	NM_052997.2	101	0,2,5851	TT,TC,CC		0.0246,0.0,0.0171	probably-damaging	429/1342	37433982	2,11704	1785	4068	5853	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1285C>T	10.37:g.37433982C>T	ENSP00000473551:p.Arg429Trp		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R429W	ENST00000602533.1	37	c.1285		10	.	.	.	.	.	.	.	.	.	.	.	11.76	1.735888	0.30774	0.0	2.46E-4	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.34667	1.42;1.35	1.13	0.096	0.14488	.	.	.	.	.	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	D	0.57899	0.981	P	0.47134	0.539	T	0.11842	-1.0571	9	0.66056	D	0.02	.	4.977	0.14146	0.0:0.3925:0.6075:0.0	.	485	Q9BXX3	AN30A_HUMAN	W	429	ENSP00000354432:R429W;ENSP00000363792:R429W	ENSP00000354432:R429W	R	+	1	2	ANKRD30A	37473988	1.000000	0.71417	0.055000	0.19348	0.335000	0.28730	0.748000	0.26305	0.050000	0.15949	0.089000	0.15464	CGG	ANKRD30A	-	NULL	ENSG00000148513		0.313	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2		0.00	37	0	C	NM_052997		37433982	+1			no_errors	ENST00000361713	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.075	T
ANKRD36BP2	645784	genome.wustl.edu	37	2	89103911	89103911	+	RNA	SNP	T	T	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:89103911T>G	ENST00000393525.3	+	0	4385									ankyrin repeat domain 36B pseudogene 2																		AAACACAGGATCAACTTACAG	0.308																																																	0																																												0					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89103911T>G				RNA	SNP	-	NULL	ENST00000393525.3	37	NULL		2																																																																																			ANKRD36BP2	-	-	ENSG00000230006		0.308	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	HGNC	pseudogene	OTTHUMT00000323523.1	-	0.00	118	0	T			89103911	+1	tier1	-	no_errors	ENST00000393515	ensembl	human	known	74_37	rna	25.77	120	42	SNP	0.002	G
ANKRD42	338699	genome.wustl.edu	37	11	82935967	82935967	+	Silent	SNP	G	G	A	rs145591736		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:82935967G>A	ENST00000393392.2	+	6	735	c.573G>A	c.(571-573)acG>acA	p.T191T	ANKRD42_ENST00000531895.1_Silent_p.T219T|ANKRD42_ENST00000533342.1_Silent_p.T219T|ANKRD42_ENST00000260047.6_Silent_p.T218T	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	191					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)		p.T191T(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCAGTGCGACGCAAGTTTTAA	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14204	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	large_intestine(1)|lung(1)						G		1,4405	2.1+/-5.4	0,1,2202	94.0	96.0	96.0		573	0.5	0.6	11	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	ANKRD42	NM_182603.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		191/390	82935967	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.573G>A	11.37:g.82935967G>A			Q49A49	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T191	ENST00000393392.2	37	c.573	CCDS8265.1	11																																																																																			ANKRD42	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000137494		0.393	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392934.1	-	0.00	29	0	G	NM_182603		82935967	+1	tier1	rs145591736	no_errors	ENST00000393392	ensembl	human	known	74_37	silent	25.71	26	9	SNP	0.074	A
ANKRD42	338699	genome.wustl.edu	37	11	82966931	82966931	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:82966931delA	ENST00000260047.6	+	12	2304	c.1509delA	c.(1507-1509)gtafs	p.V503fs	ANKRD42_ENST00000531895.1_Stop_Codon_Del|ANKRD42_ENST00000528190.1_3'UTR			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	0					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGAGGCGAGTAAAAAAAAAGG	0.358																																																	0																																										SO:0001589	frameshift_variant	0			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000260047.6:c.1509delA	11.37:g.82966931delA	ENSP00000260047:p.Val503fs		Q49A49	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K506fs	ENST00000260047.6	37	c.1509		11																																																																																			ANKRD42	-	NULL	ENSG00000137494		0.358	ANKRD42-004	PUTATIVE	basic	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392931.1		0.00	48	0	A	NM_182603		82966931	+1	tier1		no_errors	ENST00000260047	ensembl	human	putative	74_37	frame_shift_del	7.14	39	3	DEL	0.991	-
ANP32BP1	646791	genome.wustl.edu	37	15	75614651	75614651	+	RNA	SNP	T	T	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:75614651T>A	ENST00000564205.1	-	0	383									acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1																		TTCAAGCTTTTTCAATTTAGG	0.363																																																	0																																												0					15q24.2	2014-02-12			ENSG00000259790	ENSG00000259790			24267	pseudogene	pseudogene							Standard	NG_022900		Approved				OTTHUMG00000172674		15.37:g.75614651T>A				RNA	SNP	-	NULL	ENST00000564205.1	37	NULL		15																																																																																			ANP32BP1	-	-	ENSG00000259790		0.363	ANP32BP1-002	KNOWN	basic	processed_transcript	ANP32BP1	HGNC	pseudogene	OTTHUMT00000419801.1	-	0.00	71	0	T			75614651	-1	tier1	-	no_errors	ENST00000564205	ensembl	human	known	74_37	rna	77.33	17	58	SNP	1.000	A
ANXA7	310	genome.wustl.edu	37	10	75135834	75135836	+	3'UTR	DEL	AAA	AAA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:75135834_75135836delAAA	ENST00000372921.5	-	0	1474_1476					NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7						autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ttttttcattaaaaaaaaaaaaa	0.404																																																	0									,	182,56,10,910,3086		1,0,0,11,169,1,0,1,53,2,1,5,5,887,986					,	3.0	0.0		dbSNP_130	19	368,110,14,1700,6018		5,2,0,14,342,2,0,1,103,2,0,10,14,1657,1953	no	utr-3,utr-3	ANXA7	NM_004034.2,NM_001156.3	,	6,2,0,25,511,3,0,2,156,4,1,15,19,2544,2939	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		26.6991,27.2856,26.899	,	,		550,166,24,2610,9104				SO:0001624	3_prime_UTR_variant	0			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.*19TTT>-	10.37:g.75135843_75135845delAAA			Q5F2H3|Q5T0M6|Q5T0M7	RNA	DEL	-	NULL	ENST00000372921.5	37	NULL	CCDS7325.1	10																																																																																			ANXA7	-	-	ENSG00000138279		0.404	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA7	HGNC	protein_coding	OTTHUMT00000048646.2		0.00	19	0	AAA	NM_001156		75135836	-1	tier1		no_errors	ENST00000463788	ensembl	human	known	74_37	rna	46.15	14	12	DEL	0.003:0.004:0.005	-
AP1M1	8907	genome.wustl.edu	37	19	16345014	16345014	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:16345014G>A	ENST00000291439.3	+	11	1627	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	AP1M1_ENST00000541844.1_Missense_Mutation_p.R321H|AP1M1_ENST00000444449.2_Missense_Mutation_p.R405H|AP1M1_ENST00000590756.1_Missense_Mutation_p.R321H|AP1M1_ENST00000429941.2_Missense_Mutation_p.R340H	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	393	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCCCAGGTGCGCTACCTGAAG	0.647																																																	0													63.0	56.0	58.0					19																	16345014		2203	4300	6503	SO:0001583	missense	0				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.1178G>A	19.37:g.16345014G>A	ENSP00000291439:p.Arg393His		Q4TTY5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.R405H	ENST00000291439.3	37	c.1214	CCDS12342.1	19	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657095	0.88154	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	3.58	3.58	0.41010	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.93978	3.48	0.80722	D	1	D;P;P	0.57899	0.981;0.864;0.864	P;P;P	0.54312	0.748;0.458;0.458	T	0.66771	-0.5839	10	0.72032	D	0.01	-29.6875	14.7335	0.69399	0.0:0.0:1.0:0.0	.	340;405;393	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	H	405;393;321;340	ENSP00000388996:R405H;ENSP00000291439:R393H;ENSP00000445682:R321H;ENSP00000411498:R340H	ENSP00000291439:R393H	R	+	2	0	AP1M1	16206014	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.354000	0.97083	2.017000	0.59298	0.561000	0.74099	CGC	AP1M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C	ENSG00000072958		0.647	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	-	0.00	57	0	G	NM_032493		16345014	+1	tier1	-	no_errors	ENST00000444449	ensembl	human	known	74_37	missense	39.32	71	46	SNP	1.000	A
AP4B1	10717	genome.wustl.edu	37	1	114440426	114440426	+	Intron	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:114440426delC	ENST00000369569.1	-	7	1583				AP4B1_ENST00000256658.4_Intron|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CAAGCATTCTCCCCCTACCTA	0.448																																																	0													63.0	61.0	62.0					1																	114440426		2203	4300	6503	SO:0001627	intron_variant	0			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1302+35G>-	1.37:g.114440426delC			B7Z4X3|Q59EJ4|Q96CL6	RNA	DEL	-	NULL	ENST00000369569.1	37	NULL	CCDS865.1	1																																																																																			AP4B1	-	-	ENSG00000134262		0.448	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1		0.00	36	0	C	NM_006594		114440426	-1	tier1		no_errors	ENST00000462591	ensembl	human	known	74_37	rna	38.46	24	15	DEL	0.000	-
APOB	338	genome.wustl.edu	37	2	21234423	21234425	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:21234423_21234425delTGT	ENST00000233242.1	-	26	5442_5444	c.5315_5317delACA	c.(5314-5319)aacatt>att	p.N1772del		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1772					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCTGTAAATGTTGTCAAGTTT	0.369																																																	0																																										SO:0001651	inframe_deletion	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5315_5317delACA	2.37:g.21234426_21234428delTGT	ENSP00000233242:p.Asn1772del		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	In_Frame_Del	DEL	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.N1772in_frame_del	ENST00000233242.1	37	c.5317_5315	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.369	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0.00	45	0	TGT			21234425	-1	tier1		no_errors	ENST00000233242	ensembl	human	known	74_37	in_frame_del	10.94	57	7	DEL	0.007:0.202:0.983	-
APOB	338	genome.wustl.edu	37	2	21260129	21260129	+	Splice_Site	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:21260129T>C	ENST00000233242.1	-	6	665		c.e6-2		APOB_ENST00000399256.4_Splice_Site	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B						artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACGGTATCCTATGGAGGAAG	0.493																																																	0													85.0	71.0	76.0					2																	21260129		2203	4300	6503	SO:0001630	splice_region_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.538-2A>G	2.37:g.21260129T>C			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Splice_Site	SNP	-	e6-2	ENST00000233242.1	37	c.538-2	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760539	0.69763	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9574	0.79896	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	APOB	21113634	1.000000	0.71417	0.991000	0.47740	0.736000	0.42039	6.707000	0.74654	2.237000	0.73441	0.528000	0.53228	.	APOB	-	-	ENSG00000084674		0.493	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0.00	58	0	T		Intron	21260129	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	splice_site	50.43	58	59	SNP	1.000	C
APOBR	55911	genome.wustl.edu	37	16	28507452	28507452	+	Missense_Mutation	SNP	G	G	A	rs370148393		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:28507452G>A	ENST00000431282.1	+	3	1073	c.1063G>A	c.(1063-1065)Ggg>Agg	p.G355R	APOBR_ENST00000564831.1_Missense_Mutation_p.G364R|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.G355R|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	355	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGAGGAGGCCGGGACAGCCTC	0.672																																																	0								G	ARG/GLY	0,3888		0,0,1944	14.0	17.0	16.0		1063	-2.5	0.0	16		16	1,8193		0,1,4096	no	missense	APOBR	NM_018690.3	125	0,1,6040	AA,AG,GG		0.0122,0.0,0.0083	benign	355/1089	28507452	1,12081	1944	4097	6041	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1063G>A	16.37:g.28507452G>A	ENSP00000416094:p.Gly355Arg		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.G364R	ENST00000431282.1	37	c.1090		16	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080787	0.36758	0.0	1.22E-4	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.59772	0.24;0.24	3.86	-2.49	0.06403	.	.	.	.	.	T	0.33702	0.0872	N	0.19112	0.55	0.09310	N	1	B	0.23891	0.093	B	0.10450	0.005	T	0.10941	-1.0608	9	0.38643	T	0.18	.	3.7884	0.08710	0.5999:0.0:0.2159:0.1841	.	355	Q9NS13	.	R	355	ENSP00000327669:G355R;ENSP00000416094:G355R	ENSP00000327669:G355R	G	+	1	0	APOBR	28414953	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.825000	0.04433	-0.783000	0.04534	-0.487000	0.04747	GGG	APOBR	-	NULL	ENSG00000184730		0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		-	0.00	33	0	G	NM_182804		28507452	+1	tier1	-	no_errors	ENST00000564831	ensembl	human	known	74_37	missense	14.29	38	7	SNP	0.000	A
APOH	350	genome.wustl.edu	37	17	64224221	64224221	+	Missense_Mutation	SNP	G	G	A	rs371962881		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:64224221G>A	ENST00000205948.6	-	2	195	c.158C>T	c.(157-159)cCg>cTg	p.P53L		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	53	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CACATAGCCCGGCTTGCAGGA	0.478																																					Melanoma(155;624 1882 16869 48804 51309)												0								G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	207.0	188.0	195.0		158	4.7	1.0	17		195	0,8600		0,0,4300	no	missense	APOH	NM_000042.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	53/346	64224221	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.158C>T	17.37:g.64224221G>A	ENSP00000205948:p.Pro53Leu		B2R9M3|Q9UCN7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P53L	ENST00000205948.6	37	c.158	CCDS11663.1	17	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690350	0.48097	2.27E-4	0.0	ENSG00000091583	ENST00000205948	T	0.66099	-0.19	5.67	4.7	0.59300	Complement control module (2);Sushi/SCR/CCP (3);	0.175537	0.51477	D	0.000081	T	0.75613	0.3873	M	0.79805	2.47	0.51233	D	0.999919	D	0.76494	0.999	P	0.57502	0.822	T	0.79541	-0.1761	10	0.62326	D	0.03	.	13.9559	0.64147	0.0:0.1521:0.8479:0.0	.	53	P02749	APOH_HUMAN	L	53	ENSP00000205948:P53L	ENSP00000205948:P53L	P	-	2	0	APOH	61654683	0.997000	0.39634	0.956000	0.39512	0.139000	0.21198	3.766000	0.55280	1.388000	0.46506	0.650000	0.86243	CCG	APOH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000091583		0.478	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOH	HGNC	protein_coding	OTTHUMT00000446926.1	-	0.00	64	0	G	NM_000042		64224221	-1	tier1	-	no_errors	ENST00000205948	ensembl	human	known	74_37	missense	54.29	32	38	SNP	0.985	A
APPL1	26060	genome.wustl.edu	37	3	57293965	57293965	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:57293965C>T	ENST00000288266.3	+	17	1723	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	526	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TGAAACTATGCGCCAAATCTT	0.378																																																	0													90.0	86.0	87.0					3																	57293965		2203	4300	6503	SO:0001583	missense	0			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1576C>T	3.37:g.57293965C>T	ENSP00000288266:p.Arg526Cys		Q9P2B9	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom	p.R526C	ENST00000288266.3	37	c.1576	CCDS2882.1	3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595556	0.86953	.	.	ENSG00000157500	ENST00000288266	T	0.20463	2.07	5.59	5.59	0.84812	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49934	-0.8886	10	0.87932	D	0	-24.7006	19.956	0.97218	0.0:1.0:0.0:0.0	.	509;526	B4DQX8;Q9UKG1	.;DP13A_HUMAN	C	526	ENSP00000288266:R526C	ENSP00000288266:R526C	R	+	1	0	APPL1	57269005	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.241000	0.51376	2.788000	0.95919	0.557000	0.71058	CGC	APPL1	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000157500		0.378	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL1	HGNC	protein_coding	OTTHUMT00000258196.2	-	0.00	46	0	C	NM_012096		57293965	+1	tier1	-	no_errors	ENST00000288266	ensembl	human	known	74_37	missense	65.79	13	25	SNP	1.000	T
AQP11	282679	genome.wustl.edu	37	11	77320575	77320575	+	3'UTR	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:77320575delA	ENST00000313578.3	+	0	1327				CLNS1A_ENST00000533957.1_5'Flank|AQP11_ENST00000528638.1_3'UTR	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11						endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CTGGGACTTTAAAAAAAAATT	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"""Ion channels / Aquaporins"""	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.*153A>-	11.37:g.77320575delA				RNA	DEL	-	NULL	ENST00000313578.3	37	NULL	CCDS8251.1	11																																																																																			AQP11	-	-	ENSG00000178301		0.353	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP11	HGNC	protein_coding	OTTHUMT00000382582.1		0.00	17	0	A	NM_173039		77320575	+1	tier1		no_errors	ENST00000528638	ensembl	human	known	74_37	rna	36.11	23	13	DEL	0.900	-
AQP3	360	genome.wustl.edu	37	9	33441446	33441447	+	3'UTR	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:33441446_33441447insT	ENST00000297991.4	-	0	1553_1554				AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)						excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CTGTGGCCCCCTCCTCCCAGCC	0.49																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.*595->A	9.37:g.33441447_33441447dupT			A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	RNA	INS	-	NULL	ENST00000297991.4	37	NULL	CCDS6542.1	9																																																																																			AQP3	-	-	ENSG00000165272		0.490	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	AQP3	HGNC	protein_coding	OTTHUMT00000052055.1		0.00	29	0	-	NM_004925		33441447	-1	tier1		no_errors	ENST00000493581	ensembl	human	known	74_37	rna	21.43	33	9	INS	0.004:0.001	T
ARAP3	64411	genome.wustl.edu	37	5	141052870	141052870	+	Intron	DEL	G	G	-	rs386692931|rs440279	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:141052870delG	ENST00000239440.4	-	6	1038				ARAP3_ENST00000513878.1_5'Flank|ARAP3_ENST00000508305.1_Intron	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3						cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCACTGCCCCGCCCACACACA	0.522																																																	0																																										SO:0001627	intron_variant	0			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.972+97C>-	5.37:g.141052870delG			B4DIT1|D3DQE3	RNA	DEL	-	NULL	ENST00000239440.4	37	NULL	CCDS4266.1	5																																																																																			ARAP3	-	-	ENSG00000120318		0.522	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1		0.00	19	0	G	NM_022481		141052870	-1	tier1		no_errors	ENST00000524066	ensembl	human	putative	74_37	rna	30.00	14	6	DEL	0.000	-
ARC	23237	genome.wustl.edu	37	8	143694918	143694918	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:143694918G>T	ENST00000356613.2	-	1	1915	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ATCTGGGACAGCCAGTACTCC	0.597																																																	0													32.0	33.0	33.0					8																	143694918		2195	4299	6494	SO:0001583	missense	0			AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.715C>A	8.37:g.143694918G>T	ENSP00000349022:p.Leu239Met		B4DFL0|O60937	Missense_Mutation	SNP	prints_Activity-reg_cytoskelet-assoc	p.L239M	ENST00000356613.2	37	c.715	CCDS34950.1	8	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387076	0.61956	.	.	ENSG00000198576	ENST00000356613	.	.	.	4.77	3.89	0.44902	.	0.000000	0.43579	U	0.000543	T	0.57021	0.2025	N	0.24115	0.695	0.34240	D	0.677473	D	0.71674	0.998	D	0.80764	0.994	T	0.68565	-0.5375	9	0.59425	D	0.04	.	11.8699	0.52515	0.086:0.0:0.914:0.0	.	239	Q7LC44	ARC_HUMAN	M	239	.	ENSP00000349022:L239M	L	-	1	2	ARC	143691920	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	4.770000	0.62309	0.990000	0.38787	0.462000	0.41574	CTG	ARC	-	NULL	ENSG00000198576		0.597	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ARC	HGNC	protein_coding	OTTHUMT00000259274.2	-	0.00	71	0	G			143694918	-1	tier1	-	no_errors	ENST00000356613	ensembl	human	known	74_37	missense	14.78	196	34	SNP	1.000	T
ARHGAP20	57569	genome.wustl.edu	37	11	110451806	110451806	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:110451806C>T	ENST00000260283.4	-	16	2148	c.1864G>A	c.(1864-1866)Gac>Aac	p.D622N	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D596N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D596N|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.D165N|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D586N|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D599N|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D586N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	622					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AGATCATAGTCACTGAGGGTT	0.468																																																	0													104.0	97.0	99.0					11																	110451806		2201	4298	6499	SO:0001583	missense	0			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1864G>A	11.37:g.110451806C>T	ENSP00000260283:p.Asp622Asn		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.D622N	ENST00000260283.4	37	c.1864	CCDS31673.1	11	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428853	0.62844	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.16597	2.38;2.39;2.33;2.38;2.39;2.39;2.39	5.63	5.63	0.86233	.	0.062767	0.64402	D	0.000010	T	0.43700	0.1259	M	0.69823	2.125	0.41195	D	0.986337	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68943	0.961;0.915;0.961	T	0.29852	-0.9998	10	0.66056	D	0.02	.	19.6775	0.95941	0.0:1.0:0.0:0.0	.	596;622;599	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	N	622;596;165;599;586;596;586	ENSP00000260283:D622N;ENSP00000349660:D596N;ENSP00000437905:D165N;ENSP00000432076:D599N;ENSP00000436319:D586N;ENSP00000436522:D596N;ENSP00000431399:D586N	ENSP00000260283:D622N	D	-	1	0	ARHGAP20	109957016	1.000000	0.71417	0.964000	0.40570	0.009000	0.06853	5.207000	0.65197	2.666000	0.90696	0.655000	0.94253	GAC	ARHGAP20	-	NULL	ENSG00000137727		0.468	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	-	0.00	33	0	C	NM_020809		110451806	-1	tier1	-	no_errors	ENST00000260283	ensembl	human	known	74_37	missense	41.67	28	20	SNP	1.000	T
ARHGAP21	57584	genome.wustl.edu	37	10	24886394	24886394	+	Missense_Mutation	SNP	T	T	C	rs199641044		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:24886394T>C	ENST00000396432.2	-	16	3802	c.3316A>G	c.(3316-3318)Agg>Ggg	p.R1106G	ARHGAP21_ENST00000493154.1_5'Flank|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R893G	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1105					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGAAGTTTCCTTTCCGACTCT	0.393																																																	0																																										SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3316A>G	10.37:g.24886394T>C	ENSP00000379709:p.Arg1106Gly		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R1106G	ENST00000396432.2	37	c.3316	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860024	0.71834	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003	T;T;T;T	0.54479	2.7;2.83;0.76;0.57	6.17	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	L	0.58101	1.795	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.974	T	0.65179	-0.6231	10	0.45353	T	0.12	.	13.3146	0.60399	0.0:0.0:0.2485:0.7515	.	1096;1105	F8W9U9;Q5T5U3	.;RHG21_HUMAN	G	1106;893;1096;1106	ENSP00000379709:R1106G;ENSP00000365604:R893G;ENSP00000365592:R1096G;ENSP00000405018:R1106G	ENSP00000365604:R893G	R	-	1	2	ARHGAP21	24926400	1.000000	0.71417	0.971000	0.41717	0.994000	0.84299	2.905000	0.48727	0.518000	0.28383	0.533000	0.62120	AGG	ARHGAP21	-	NULL	ENSG00000107863		0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	-	0.00	39	0	T	NM_020824		24886394	-1	tier1	rs199641044	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	56.76	16	21	SNP	0.998	C
ARHGAP23P1	102577425	genome.wustl.edu	37	16	33738914	33738914	+	RNA	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:33738914C>T	ENST00000567025.1	-	0	405									Rho GTPase activating protein 23 pseudogene 1																		TTGAGTCCATCATCGCAGGAC	0.667																																																	0																																												0					16p11.2	2013-01-23			ENSG00000260781	ENSG00000260781			45039	pseudogene	pseudogene							Standard	NG_033847		Approved				OTTHUMG00000176364		16.37:g.33738914C>T				RNA	SNP	-	NULL	ENST00000567025.1	37	NULL		16																																																																																			ARHGAP23P1	-	-	ENSG00000260781		0.667	ARHGAP23P1-002	KNOWN	basic	processed_transcript	ARHGAP23P1	HGNC	pseudogene	OTTHUMT00000431823.1	-	0.00	130	0	C			33738914	-1	tier1	-	no_errors	ENST00000567025	ensembl	human	known	74_37	rna	24.75	152	50	SNP	1.000	T
ARHGAP35	2909	genome.wustl.edu	37	19	47423886	47423886	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:47423886C>T	ENST00000404338.3	+	1	1954	c.1954C>T	c.(1954-1956)Cag>Tag	p.Q652*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	652					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GAACTCTTTCCAGACGCCAAC	0.438																																																	0													67.0	67.0	67.0					19																	47423886		1888	4129	6017	SO:0001587	stop_gained	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1954C>T	19.37:g.47423886C>T	ENSP00000385720:p.Gln652*		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q652*	ENST00000404338.3	37	c.1954	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.039260	0.97226	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	5.89	5.89	0.94794	.	0.152400	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.979	19.0194	0.92906	0.0:1.0:0.0:0.0	.	.	.	.	X	652	.	ENSP00000324820:Q652X	Q	+	1	0	ARHGAP35	52115726	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	3.276000	0.51646	2.790000	0.95986	0.655000	0.94253	CAG	ARHGAP35	-	NULL	ENSG00000160007		0.438	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	-	0.00	21	0	C	NM_004491		47423886	+1	tier1	-	no_errors	ENST00000404338	ensembl	human	known	74_37	nonsense	72.73	6	16	SNP	1.000	T
ARHGAP39	80728	genome.wustl.edu	37	8	145773078	145773078	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:145773078C>T	ENST00000276826.5	-	4	1593	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	ARHGAP39_ENST00000540274.1_Silent_p.P464P|ARHGAP39_ENST00000377307.2_Silent_p.P464P|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	464					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCTGTGGCAGCGGCGTGGGCG	0.687																																																	0													16.0	18.0	17.0					8																	145773078		2188	4286	6474	SO:0001819	synonymous_variant	0				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1392G>A	8.37:g.145773078C>T			B4E1I1	Silent	SNP	pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom	p.P464	ENST00000276826.5	37	c.1392		8																																																																																			ARHGAP39	-	NULL	ENSG00000147799		0.687	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	ARHGAP39	HGNC	protein_coding	OTTHUMT00000382509.1	-	0.00	46	0	C			145773078	-1	tier1	-	no_errors	ENST00000377307	ensembl	human	known	74_37	silent	11.54	184	24	SNP	0.055	T
ARHGAP9	64333	genome.wustl.edu	37	12	57871263	57871263	+	Silent	SNP	C	C	T	rs548695816		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:57871263C>T	ENST00000356411.2	-	4	873	c.735G>A	c.(733-735)ccG>ccA	p.P245P	ARHGAP9_ENST00000550288.1_Silent_p.P324P|ARHGAP9_ENST00000393797.2_Silent_p.P316P|ARHGAP9_ENST00000424809.2_Silent_p.P245P|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000393791.3_Silent_p.P245P|ARHGAP9_ENST00000430041.2_Silent_p.P61P			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	245	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GACTGCGGCGCGGGGGCTTCC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		16187	0.0		0.0	False		,,,				2504	0.001																0													55.0	61.0	59.0					12																	57871263		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.735G>A	12.37:g.57871263C>T			B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.P245	ENST00000356411.2	37	c.735		12																																																																																			ARHGAP9	-	superfamily_WW_dom,pfscan_WW_dom	ENSG00000123329		0.582	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding		-	0.00	29	0	C	NM_032496		57871263	-1	tier1	-	no_errors	ENST00000356411	ensembl	human	known	74_37	silent	40.00	33	22	SNP	0.491	T
ARNTL	406	genome.wustl.edu	37	11	13399889	13399889	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:13399889C>A	ENST00000403290.1	+	17	1775	c.1420C>A	c.(1420-1422)Cca>Aca	p.P474T	ARNTL_ENST00000389708.3_Silent_p.A505A|ARNTL_ENST00000401424.1_Missense_Mutation_p.P431T|ARNTL_ENST00000389707.4_Missense_Mutation_p.P473T|ARNTL_ENST00000361003.4_Missense_Mutation_p.P356T|ARNTL_ENST00000396441.3_Missense_Mutation_p.P473T|ARNTL_ENST00000403510.3_Missense_Mutation_p.P430T|ARNTL_ENST00000403482.3_Missense_Mutation_p.P472T			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	474					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGTAGGTGGCCCAAAGAGGAC	0.458																																																	0													30.0	32.0	32.0					11																	13399889		2199	4294	6493	SO:0001583	missense	0			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1420C>A	11.37:g.13399889C>A	ENSP00000384517:p.Pro474Thr		A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.P474T	ENST00000403290.1	37	c.1420		11	.	.	.	.	.	.	.	.	.	.	C	8.347	0.830011	0.16749	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000403510;ENST00000339640;ENST00000403482	T;T;T;T;T;T;T	0.11277	3.14;3.14;3.14;3.14;2.79;3.14;3.12	5.56	5.56	0.83823	.	0.509310	0.21540	N	0.072909	T	0.04815	0.0130	N	0.02011	-0.69	0.80722	D	1	B;B;B;B;B	0.11235	0.004;0.0;0.0;0.001;0.0	B;B;B;B;B	0.12837	0.008;0.001;0.001;0.003;0.001	T	0.49173	-0.8967	10	0.21540	T	0.41	.	14.0208	0.64553	0.1513:0.8487:0.0:0.0	.	472;431;474;473;430	O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;BMAL1_HUMAN;.;.	T	473;473;431;474;356;430;430;472	ENSP00000379718:P473T;ENSP00000374357:P473T;ENSP00000385915:P431T;ENSP00000384517:P474T;ENSP00000354278:P356T;ENSP00000385581:P430T;ENSP00000385897:P472T	ENSP00000340289:P430T	P	+	1	0	ARNTL	13356465	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.489000	0.53237	2.608000	0.88229	0.655000	0.94253	CCA	ARNTL	-	NULL	ENSG00000133794		0.458	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	ARNTL	HGNC	protein_coding	OTTHUMT00000319173.1	-	0.00	29	0	C	NM_001178		13399889	+1	tier1	-	no_errors	ENST00000403290	ensembl	human	known	74_37	missense	77.14	8	27	SNP	1.000	A
ARPC2	10109	genome.wustl.edu	37	2	219118832	219118833	+	3'UTR	DEL	AA	AA	-	rs376913304		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:219118832_219118833delAA	ENST00000295685.10	+	0	1358_1359				RP11-378A13.1_ENST00000562328.1_RNA|ARPC2_ENST00000315717.5_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CCCAAGAATTAAAAAAAAAAAA	0.371																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.*195AA>-	2.37:g.219118842_219118843delAA			Q92801|Q9P1D4	RNA	DEL	-	NULL	ENST00000295685.10	37	NULL	CCDS2410.1	2																																																																																			ARPC2	-	-	ENSG00000163466		0.371	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000256777.2		0.00	18	0	AA	NM_005731		219118833	+1	tier1		no_errors	ENST00000487321	ensembl	human	putative	74_37	rna	34.21	25	13	DEL	0.933:0.940	-
ARPC5	10092	genome.wustl.edu	37	1	183599769	183599769	+	Missense_Mutation	SNP	G	G	A	rs369978826		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:183599769G>A	ENST00000359856.6	-	3	286	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ARPC5_ENST00000367534.1_Missense_Mutation_p.R74W|ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000294742.6_Missense_Mutation_p.R77W	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	74					actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						CTGCCTGCCCGGTCCTGGTGG	0.388																																					Melanoma(136;1596 1789 3041 4830 41075)												0								G	TRP/ARG	0,4396		0,0,2198	60.0	62.0	62.0		220	5.8	1.0	1		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARPC5	NM_005717.2	101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	74/152	183599769	1,12995	2198	4300	6498	SO:0001583	missense	0			AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"""Actin related protein 2/3 complex subunits"""	708	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p16"""	604227	"""actin related protein 2/3 complex, subunit 5 (16 kD)"""			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.220C>T	1.37:g.183599769G>A	ENSP00000352918:p.Arg74Trp		A6NEC4|Q6PG42	Missense_Mutation	SNP	pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc	p.R77W	ENST00000359856.6	37	c.229	CCDS1357.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.575508	0.96553	0.0	1.16E-4	ENSG00000162704	ENST00000367534;ENST00000359856;ENST00000294742	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.82843	0.5125	M	0.82923	2.615	0.80722	D	1	D	0.67145	0.996	P	0.61874	0.895	D	0.84536	0.0636	9	0.72032	D	0.01	-4.1388	20.008	0.97439	0.0:0.0:1.0:0.0	.	74	O15511	ARPC5_HUMAN	W	74;74;77	.	ENSP00000294742:R77W	R	-	1	2	ARPC5	181866392	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	9.689000	0.98673	2.727000	0.93392	0.650000	0.86243	CGG	ARPC5	-	pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc	ENSG00000162704		0.388	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARPC5	HGNC	protein_coding	OTTHUMT00000085477.1	-	0.00	24	0	G	NM_005717		183599769	-1	tier1	-	no_errors	ENST00000294742	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	A
ARSI	340075	genome.wustl.edu	37	5	149677873	149677873	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:149677873C>T	ENST00000328668.7	-	2	1193	c.614G>A	c.(613-615)gGc>gAc	p.G205D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	205					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGTACTGGCCGCTGAGCCC	0.602																																																	0													59.0	57.0	58.0					5																	149677873		2202	4300	6502	SO:0001583	missense	0			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.614G>A	5.37:g.149677873C>T	ENSP00000333395:p.Gly205Asp		A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.G205D	ENST00000328668.7	37	c.614	CCDS34275.1	5	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174047	0.78452	.	.	ENSG00000183876	ENST00000328668;ENST00000515301;ENST00000509146	D;D;D	0.98822	-5.16;-5.16;-5.16	4.31	4.31	0.51392	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99342	1.0912	10	0.51188	T	0.08	.	17.3349	0.87277	0.0:1.0:0.0:0.0	.	205	Q5FYB1	ARSI_HUMAN	D	205;62;62	ENSP00000333395:G205D;ENSP00000426879:G62D;ENSP00000420955:G62D	ENSP00000333395:G205D	G	-	2	0	ARSI	149658066	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.601000	0.82783	2.396000	0.81511	0.555000	0.69702	GGC	ARSI	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000183876		0.602	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSI	HGNC	protein_coding	OTTHUMT00000373681.1	-	0.00	17	0	C	NM_001012301		149677873	-1	tier1	-	no_errors	ENST00000328668	ensembl	human	known	74_37	missense	72.92	13	35	SNP	1.000	T
ARVCF	421	genome.wustl.edu	37	22	19961708	19961708	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:19961708G>A	ENST00000263207.3	-	12	2306	c.2015C>T	c.(2014-2016)aCg>aTg	p.T672M	ARVCF_ENST00000406522.1_Missense_Mutation_p.T603M|ARVCF_ENST00000344269.3_Missense_Mutation_p.T609M|ARVCF_ENST00000401994.1_Missense_Mutation_p.T609M|ARVCF_ENST00000406259.1_Missense_Mutation_p.T666M	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	672					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CCGGCTCTCCGTGAGGAGGGA	0.647																																																	0													56.0	54.0	55.0					22																	19961708		2203	4300	6503	SO:0001583	missense	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2015C>T	22.37:g.19961708G>A	ENSP00000263207:p.Thr672Met		B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.T672M	ENST00000263207.3	37	c.2015	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920709	0.92249	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.971;0.997	T	0.75451	-0.3313	9	.	.	.	-16.2574	16.8906	0.86086	0.0:0.0:1.0:0.0	.	672;188	O00192;E7EV58	ARVC_HUMAN;.	M	672;609;609;603;666	ENSP00000263207:T672M;ENSP00000342042:T609M;ENSP00000384341:T609M;ENSP00000384732:T603M;ENSP00000385444:T666M	.	T	-	2	0	ARVCF	18341708	1.000000	0.71417	0.977000	0.42913	0.993000	0.82548	3.018000	0.49625	2.596000	0.87737	0.561000	0.74099	ACG	ARVCF	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000099889		0.647	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	-	0.00	39	0	G	NM_001670		19961708	-1	tier1	-	no_errors	ENST00000263207	ensembl	human	known	74_37	missense	47.37	30	27	SNP	1.000	A
ASAP2	8853	genome.wustl.edu	37	2	9491025	9491025	+	Splice_Site	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:9491025G>A	ENST00000281419.3	+	12	1451		c.e12+1		ASAP2_ENST00000315273.4_Splice_Site	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2						positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CTCATTTCACGTAAGGCTCCC	0.507																																																	0													79.0	62.0	68.0					2																	9491025		2203	4300	6503	SO:0001630	splice_region_variant	0			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1111+1G>A	2.37:g.9491025G>A			D6W4Y8	Splice_Site	SNP	-	e12+1	ENST00000281419.3	37	c.1111+1	CCDS1661.1	2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428920	0.83667	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6353	0.91376	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASAP2	9408476	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.648000	0.98483	2.634000	0.89283	0.655000	0.94253	.	ASAP2	-	-	ENSG00000151693		0.507	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1	-	0.00	36	0	G	NM_003887	Intron	9491025	+1	tier1	-	no_errors	ENST00000281419	ensembl	human	known	74_37	splice_site	48.89	23	22	SNP	1.000	A
ASB16	92591	genome.wustl.edu	37	17	42249535	42249535	+	Silent	SNP	C	C	T	rs373603799		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:42249535C>T	ENST00000293414.1	+	2	507	c.423C>T	c.(421-423)gtC>gtT	p.V141V		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	141					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATGCCCGTGTCGGGGGTCGCG	0.642																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	72.0	66.0	68.0		423	-10.9	0.0	17		68	0,8600		0,0,4300	no	coding-synonymous	ASB16	NM_080863.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		141/454	42249535	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.423C>T	17.37:g.42249535C>T			B2RBC0|Q8WXK0	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.V141	ENST00000293414.1	37	c.423	CCDS11478.1	17																																																																																			ASB16	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000161664		0.642	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB16	HGNC	protein_coding	OTTHUMT00000457703.1	-	0.00	28	0	C			42249535	+1	tier1	-	no_errors	ENST00000293414	ensembl	human	known	74_37	silent	28.30	38	15	SNP	0.000	T
ASXL1	171023	genome.wustl.edu	37	20	30954215	30954215	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:30954215T>C	ENST00000375687.4	+	2	510	c.86T>C	c.(85-87)aTg>aCg	p.M29T	ASXL1_ENST00000375689.1_Missense_Mutation_p.M25T|ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_Missense_Mutation_p.M29T|ASXL1_ENST00000306058.5_Missense_Mutation_p.M25T	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	29					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GATGCTCCAATGACACCAAAA	0.378			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													223.0	202.0	209.0					20																	30954215		2203	4300	6503	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.86T>C	20.37:g.30954215T>C	ENSP00000364839:p.Met29Thr		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.M29T	ENST00000375687.4	37	c.86	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	T	18.06	3.539901	0.65085	.	.	ENSG00000171456	ENST00000358956;ENST00000542189;ENST00000375687;ENST00000542461;ENST00000421155;ENST00000412498;ENST00000375689;ENST00000306058	T;T	0.42900	1.55;0.96	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.69823	2.125	0.58432	D	0.999995	D	0.61697	0.99	D	0.68353	0.957	T	0.65249	-0.6214	10	0.87932	D	0	-14.8125	12.2823	0.54771	0.0:0.0:0.0:1.0	.	29	Q8IXJ9	ASXL1_HUMAN	T	29;29;29;29;29;19;25;25	ENSP00000364839:M29T;ENSP00000305119:M25T	ENSP00000305119:M25T	M	+	2	0	ASXL1	30417876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.484000	0.73621	2.164000	0.68074	0.523000	0.50628	ATG	ASXL1	-	NULL	ENSG00000171456		0.378	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	-	0.00	59	0	T	NM_015338		30954215	+1	tier1	-	no_errors	ENST00000375687	ensembl	human	known	74_37	missense	45.08	67	55	SNP	1.000	C
ASXL1	171023	genome.wustl.edu	37	20	31022442	31022442	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:31022442delG	ENST00000375687.4	+	13	2351	c.1927delG	c.(1927-1929)gggfs	p.G646fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G641fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	646	Gly-rich.|Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G643fs*15(3)|p.A640fs*14(2)|p.T639_G659>PPWD(1)|p.A637fs*13(1)|p.A640_S664>PCSGG(1)|p.T639fs*14(1)|p.T639fs*19(1)|p.T639_P647>PPSDGS(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGCCATCGGAGGGGGGGGTGG	0.692			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	11	Deletion - Frameshift(4)|Complex - deletion inframe(3)|Insertion - Frameshift(3)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(11)								114,54,3462		18,0,78,3,48,1668	6.0	8.0	7.0			4.4	1.0	20		7	161,165,6938		9,0,143,5,155,3320	no	codingComplex	ASXL1	NM_015338.5		27,0,221,8,203,4988	A1A1,A1A2,A1R,A2A2,A2R,RR		4.4879,4.6281,4.5346			31022442	275,219,10400	2008	3998	6006	SO:0001589	frameshift_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1927delG	20.37:g.31022442delG	ENSP00000364839:p.Gly646fs		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Del	DEL	NULL	p.G645fs	ENST00000375687.4	37	c.1927	CCDS13201.1	20																																																																																			ASXL1	-	NULL	ENSG00000171456		0.692	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2		0.00	49	0	G	NM_015338		31022442	+1	tier1		no_errors	ENST00000375687	ensembl	human	known	74_37	frame_shift_del	27.96	67	26	DEL	1.000	-
ATAD2	29028	genome.wustl.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413																																																	0													79.0	66.0	71.0					8																	124368685		2203	4300	6503	SO:0001589	frameshift_variant	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1590delT	8.37:g.124368685delA	ENSP00000287394:p.Phe530fs		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.F530fs	ENST00000287394.5	37	c.1590	CCDS6343.1	8																																																																																			ATAD2	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000156802		0.413	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2		0.00	19	0	A	NM_014109		124368685	-1	tier1		no_errors	ENST00000287394	ensembl	human	known	74_37	frame_shift_del	32.69	35	17	DEL	1.000	-
ATF4P4	100127952	genome.wustl.edu	37	11	113660924	113660924	+	RNA	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:113660924delC	ENST00000393544.2	+	0	972									activating transcription factor 4 pseudogene 4																		TGCAGCGGCACCCCCCAGCGG	0.607																																																	0																																												0					11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113660924delC				RNA	DEL	-	NULL	ENST00000393544.2	37	NULL		11																																																																																			ATF4P4	-	-	ENSG00000256167		0.607	ATF4P4-002	KNOWN	basic	processed_transcript	ATF4P4	HGNC	pseudogene	OTTHUMT00000398707.1		0.00	59	0	C	NG_021835		113660924	+1	tier1		no_errors	ENST00000393544	ensembl	human	known	74_37	rna	19.75	65	16	DEL	0.993	-
ATN1	1822	genome.wustl.edu	37	12	7045897	7045897	+	Silent	SNP	G	G	A	rs377147612|rs60216939		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:7045897G>A	ENST00000356654.4	+	5	1704	c.1467G>A	c.(1465-1467)caG>caA	p.Q489Q	ATN1_ENST00000396684.2_Silent_p.Q489Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	489	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcaacagcagcagcagcagc	0.637																																																	0													55.0	68.0	63.0					12																	7045897		2202	4299	6501	SO:0001819	synonymous_variant	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1467G>A	12.37:g.7045897G>A			Q99495|Q99621|Q9UEK7	Silent	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.Q489	ENST00000356654.4	37	c.1467	CCDS31734.1	12																																																																																			ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.637	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2		0.00	32	0	G	NM_001940		7045897	+1			no_errors	ENST00000356654	ensembl	human	known	74_37	silent	20.63	49	13	SNP	0.700	A
ATN1	1822	genome.wustl.edu	37	12	7045933	7045933	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:7045933G>T	ENST00000356654.4	+	5	1740	c.1503G>T	c.(1501-1503)caG>caT	p.Q501H	ATN1_ENST00000396684.2_Missense_Mutation_p.Q501H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	501	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcaTCACG	0.632																																																	0													50.0	59.0	56.0					12																	7045933		2203	4300	6503	SO:0001583	missense	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1503G>T	12.37:g.7045933G>T	ENSP00000349076:p.Gln501His		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.Q501H	ENST00000356654.4	37	c.1503	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	g	4.415	0.076769	0.08485	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.56776	0.44;0.44;0.44	2.87	-4.98	0.03019	.	.	.	.	.	T	0.29158	0.0725	N	0.22421	0.69	0.09310	N	1	P	0.44521	0.837	B	0.36418	0.224	T	0.25537	-1.0129	9	0.12430	T	0.62	.	12.1608	0.54103	0.1812:0.0:0.8188:0.0	.	501	P54259	ATN1_HUMAN	H	501;501;501;86	ENSP00000349076:Q501H;ENSP00000379915:Q501H;ENSP00000441744:Q501H	ENSP00000229279:Q86H	Q	+	3	2	ATN1	6916194	0.370000	0.25047	0.054000	0.19295	0.338000	0.28826	0.810000	0.27183	-1.248000	0.02503	0.177000	0.17058	CAG	ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.632	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2		0.00	30	0	G	NM_001940		7045933	+1			no_errors	ENST00000356654	ensembl	human	known	74_37	missense	7.14	63	5	SNP	0.002	T
ATP11B	23200	genome.wustl.edu	37	3	182635844	182635844	+	Silent	SNP	C	C	T	rs372790774		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:182635844C>T	ENST00000323116.5	+	30	3746	c.3486C>T	c.(3484-3486)aaC>aaT	p.N1162N		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1162					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.N1162N(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TCTATACCAACGACAGGAGCA	0.403																																																	1	Substitution - coding silent(1)	prostate(1)						C		1,4405	2.1+/-5.4	0,1,2202	163.0	148.0	153.0		3486	4.0	1.0	3		153	0,8600		0,0,4300	no	coding-synonymous	ATP11B	NM_014616.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1162/1178	182635844	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3486C>T	3.37:g.182635844C>T			Q96FN1|Q9UKK7	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.N1162	ENST00000323116.5	37	c.3486	CCDS33896.1	3																																																																																			ATP11B	-	NULL	ENSG00000058063		0.403	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	-	0.00	64	0	C	NM_014616		182635844	+1	tier1	-	no_errors	ENST00000323116	ensembl	human	known	74_37	silent	9.40	106	11	SNP	1.000	T
ATP2A2	488	genome.wustl.edu	37	12	110777173	110777173	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:110777173C>T	ENST00000539276.2	+	12	1616	c.1507C>T	c.(1507-1509)Cca>Tca	p.P503S	ATP2A2_ENST00000308664.6_Missense_Mutation_p.P503S|ATP2A2_ENST00000395494.2_Missense_Mutation_p.P476S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	503					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ACCAAATAAACCAAGCAGGAC	0.403																																																	0													116.0	105.0	109.0					12																	110777173		2203	4300	6503	SO:0001583	missense	0				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1507C>T	12.37:g.110777173C>T	ENSP00000440045:p.Pro503Ser		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.P503S	ENST00000539276.2	37	c.1507	CCDS9144.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.35|11.35	1.613788|1.613788	0.28712|0.28712	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276|ENST00000548169	D;D;D|.	0.82081|.	-1.57;-1.57;-1.57|.	5.85|5.85	4.96|4.96	0.65561|0.65561	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.069164|.	0.64402|.	N|.	0.000010|.	T|T	0.38268|0.38268	0.1034|0.1034	N|N	0.05510|0.05510	-0.035|-0.035	0.46298|0.46298	D|D	0.998977|0.998977	B;B;B|.	0.09022|.	0.002;0.001;0.002|.	B;B;B|.	0.15870|.	0.008;0.004;0.014|.	T|T	0.26467|0.26467	-1.0102|-1.0102	10|5	0.05833|.	T|.	0.94|.	.|.	15.0094|15.0094	0.71539|0.71539	0.0:0.9317:0.0:0.0683|0.0:0.9317:0.0:0.0683	.|.	476;503;503|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	S|I	503;476;503|393	ENSP00000311186:P503S;ENSP00000378872:P476S;ENSP00000440045:P503S|.	ENSP00000311186:P503S|.	P|T	+|+	1|2	0|0	ATP2A2|ATP2A2	109261556|109261556	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.983000|0.983000	0.72400|0.72400	2.481000|2.481000	0.45215|0.45215	1.488000|1.488000	0.48433|0.48433	0.563000|0.563000	0.77884|0.77884	CCA|ACC	ATP2A2	-	superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA	ENSG00000174437		0.403	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	-	0.00	25	0	C	NM_001681		110777173	+1	tier1	-	no_errors	ENST00000539276	ensembl	human	known	74_37	missense	66.67	11	22	SNP	1.000	T
ATP8B3	148229	genome.wustl.edu	37	19	1796768	1796768	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:1796768C>A	ENST00000310127.6	-	16	1933	c.1695G>T	c.(1693-1695)tgG>tgT	p.W565C	ATP8B3_ENST00000539485.1_Missense_Mutation_p.W565C|ATP8B3_ENST00000525591.1_Missense_Mutation_p.W518C	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	565					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGGCGCCAGAACTCCC	0.692																																																	0													29.0	35.0	33.0					19																	1796768		2097	4186	6283	SO:0001583	missense	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1695G>T	19.37:g.1796768C>A	ENSP00000311336:p.Trp565Cys		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.W565C	ENST00000310127.6	37	c.1695	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345500	0.61073	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.62788	0.0;0.0;0.0	3.63	3.63	0.41609	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.309482	0.30528	N	0.009433	T	0.72020	0.3409	L	0.56124	1.755	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.979	T	0.74569	-0.3622	10	0.87932	D	0	.	10.6363	0.45567	0.0:0.8043:0.1957:0.0	.	565;518	O60423;Q7Z485	AT8B3_HUMAN;.	C	565;565;518	ENSP00000311336:W565C;ENSP00000443574:W565C;ENSP00000437115:W518C	ENSP00000311336:W565C	W	-	3	0	ATP8B3	1747768	0.848000	0.29623	0.999000	0.59377	0.734000	0.41952	1.274000	0.33132	1.878000	0.54408	0.561000	0.74099	TGG	ATP8B3	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000130270		0.692	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	-	0.00	18	0	C	NM_138813		1796768	-1	tier1	-	no_errors	ENST00000539485	ensembl	human	known	74_37	missense	37.78	28	17	SNP	0.996	A
ATRNL1	26033	genome.wustl.edu	37	10	117061383	117061383	+	Missense_Mutation	SNP	C	C	T	rs140372621		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:117061383C>T	ENST00000355044.3	+	17	2774	c.2648C>T	c.(2647-2649)gCg>gTg	p.A883V	ATRNL1_ENST00000303745.7_5'Flank|ATRNL1_ENST00000423111.2_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	883					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATCAAAATGCGAGGCCGTGC	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17189	0.0		0.0	False		,,,				2504	0.0																0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	133.0	100.0	111.0		2648	4.5	1.0	10	dbSNP_134	111	0,8600		0,0,4300	no	missense	ATRNL1	NM_207303.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	883/1380	117061383	1,13005	2203	4300	6503	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2648C>T	10.37:g.117061383C>T	ENSP00000347152:p.Ala883Val		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.A883V	ENST00000355044.3	37	c.2648	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528344	0.44969	2.27E-4	0.0	ENSG00000107518	ENST00000355044	T	0.14144	2.53	5.41	4.51	0.55191	.	0.209770	0.50627	D	0.000116	T	0.09949	0.0244	N	0.24115	0.695	0.80722	D	1	B	0.25312	0.123	B	0.12837	0.008	T	0.13335	-1.0513	10	0.30078	T	0.28	-2.6064	14.1003	0.65051	0.0:0.9282:0.0:0.0718	.	883	Q5VV63	ATRN1_HUMAN	V	883	ENSP00000347152:A883V	ENSP00000347152:A883V	A	+	2	0	ATRNL1	117051373	1.000000	0.71417	0.997000	0.53966	0.805000	0.45488	5.999000	0.70665	1.295000	0.44724	-0.136000	0.14681	GCG	ATRNL1	-	NULL	ENSG00000107518		0.378	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0.00	36	0	C	XM_049349		117061383	+1	tier1	rs140372621	no_errors	ENST00000355044	ensembl	human	known	74_37	missense	28.07	40	16	SNP	1.000	T
ATRX	546	genome.wustl.edu	37	X	76761749	76761749	+	3'UTR	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:76761749A>G	ENST00000373344.5	-	0	9773				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_3'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TACTCAAAGTACATATTATAT	0.259			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0																																										SO:0001624	3_prime_UTR_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.*2080T>C	X.37:g.76761749A>G			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	RNA	SNP	-	NULL	ENST00000373344.5	37	NULL	CCDS14434.1	X																																																																																			ATRX	-	-	ENSG00000085224		0.259	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	-	0.00	13	0	A	NM_000489		76761749	-1	tier1	-	no_errors	ENST00000480283	ensembl	human	known	74_37	rna	41.94	18	13	SNP	1.000	G
B3GNT4	79369	genome.wustl.edu	37	12	122691380	122691380	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:122691380G>A	ENST00000324189.4	+	3	938	c.582G>A	c.(580-582)acG>acA	p.T194T	B3GNT4_ENST00000535274.1_Silent_p.T169T|B3GNT4_ENST00000546192.1_Silent_p.T169T|B3GNT4_ENST00000545141.1_Intron	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	194					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TCAACCTGACGCTCAAGGAGC	0.592																																																	0													43.0	46.0	45.0					12																	122691380		2203	4300	6503	SO:0001819	synonymous_variant	0			AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.582G>A	12.37:g.122691380G>A			Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Silent	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.T194	ENST00000324189.4	37	c.582	CCDS9227.1	12																																																																																			B3GNT4	-	pfam_Glyco_trans_31	ENSG00000176383		0.592	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	B3GNT4	HGNC	protein_coding	OTTHUMT00000401595.1	-	0.00	34	0	G	NM_030765		122691380	+1	tier1	-	no_errors	ENST00000324189	ensembl	human	known	74_37	silent	52.00	24	26	SNP	0.018	A
BAI3	577	genome.wustl.edu	37	6	70048831	70048831	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:70048831G>T	ENST00000370598.1	+	25	4033	c.3212G>T	c.(3211-3213)gGt>gTt	p.G1071V	BAI3_ENST00000546190.1_Missense_Mutation_p.G35V|BAI3_ENST00000238918.8_Missense_Mutation_p.G277V	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1071					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)				CCTCATAGCGGTTTGACGCTC	0.418																																																	0													228.0	224.0	225.0					6																	70048831		2203	4300	6503	SO:0001583	missense	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.3212G>T	6.37:g.70048831G>T	ENSP00000359630:p.Gly1071Val		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	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.G1071V	ENST00000370598.1	37	c.3212	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722441	0.89298	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.44482	1.95;2.57;0.92	6.16	6.16	0.99307	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	N	0.21194	0.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.50625	-0.8806	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	277;1071;1071	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	V	1071;277;35	ENSP00000359630:G1071V;ENSP00000238918:G277V;ENSP00000441821:G35V	ENSP00000238918:G277V	G	+	2	0	BAI3	70105552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.516000	0.73755	2.937000	0.99478	0.650000	0.86243	GGT	BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000135298		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0.00	35	0	G			70048831	+1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	14.63	35	6	SNP	1.000	T
BAZ2B	29994	genome.wustl.edu	37	2	160317645	160317645	+	Intron	DEL	T	T	-	rs532390970		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:160317645delT	ENST00000392783.2	-	4	641				BAZ2B_ENST00000392782.1_Intron|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000483316.1_5'UTR|BAZ2B_ENST00000355831.2_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CACAAACACGTTTTTTTTTTA	0.353																																																	0																																										SO:0001627	intron_variant	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.146-7333A>-	2.37:g.160317645delT			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	RNA	DEL	-	NULL	ENST00000392783.2	37	NULL	CCDS2209.2	2																																																																																			BAZ2B	-	-	ENSG00000123636		0.353	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2		0.00	19	0	T			160317645	-1	tier1		no_errors	ENST00000483316	ensembl	human	known	74_37	rna	24.00	19	6	DEL	0.155	-
BBS2	583	genome.wustl.edu	37	16	56532485	56532485	+	Intron	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:56532485delA	ENST00000245157.5	-	13	1948				BBS2_ENST00000568104.1_Intron	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2						adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						AACAACCTTGAAAATGAACAC	0.393									Bardet-Biedl syndrome																																								0													65.0	58.0	60.0					16																	56532485		2198	4300	6498	SO:0001627	intron_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1528-5T>-	16.37:g.56532485delA			Q96CM0|Q96SN9	RNA	DEL	-	NULL	ENST00000245157.5	37	NULL	CCDS32451.1	16																																																																																			BBS2	-	-	ENSG00000125124		0.393	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS2	HGNC	protein_coding	OTTHUMT00000434386.2		0.00	51	0	A	NM_031885		56532485	-1	tier1		no_errors	ENST00000566410	ensembl	human	putative	74_37	rna	36.84	48	28	DEL	1.000	-
BCCIP	56647	genome.wustl.edu	37	10	127520211	127520212	+	Intron	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:127520211_127520212insT	ENST00000278100.6	+	5	611				BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein						cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTGAACAGTAATTTTTTTTTCA	0.371																																																	0																																										SO:0001627	intron_variant	0			AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.599+35->T	10.37:g.127520220_127520220dupT			B3KP45|Q8ND15|Q96GC4|Q9P288	RNA	INS	-	NULL	ENST00000278100.6	37	NULL	CCDS7651.1	10																																																																																			BCCIP	-	-	ENSG00000107949		0.371	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BCCIP	HGNC	protein_coding	OTTHUMT00000050941.1		0.00	15	0	-			127520212	+1	tier1		no_errors	ENST00000463330	ensembl	human	known	74_37	rna	36.36	7	4	INS	0.000:0.000	T
BCL11A	53335	genome.wustl.edu	37	2	60687186	60687187	+	3'UTR	INS	-	-	A	rs199562853		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:60687186_60687187insA	ENST00000335712.6	-	0	3087_3088				BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)						B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|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 negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTCTAAGTTTAAAAAAAAACA	0.351			T	IGH@	B-CLL																																			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0																																										SO:0001624	3_prime_UTR_variant	0			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.*353->T	2.37:g.60687195_60687195dupA			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	RNA	INS	-	NULL	ENST00000335712.6	37	NULL	CCDS1862.1	2																																																																																			BCL11A	-	-	ENSG00000119866		0.351	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2		0.00	27	0	-	NM_022893		60687187	-1	tier1		no_errors	ENST00000477659	ensembl	human	known	74_37	rna	50.00	12	12	INS	0.505:1.000	A
BCL9L	283149	genome.wustl.edu	37	11	118772427	118772427	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:118772427A>G	ENST00000334801.3	-	6	2989	c.2025T>C	c.(2023-2025)cgT>cgC	p.R675R	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	675					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCAGCTCCTCACGGACCCGGG	0.652																																																	0													35.0	35.0	35.0					11																	118772427		2200	4295	6495	SO:0001819	synonymous_variant	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2025T>C	11.37:g.118772427A>G			A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.R675	ENST00000334801.3	37	c.2025	CCDS8403.1	11																																																																																			BCL9L	-	NULL	ENSG00000186174		0.652	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	-	0.00	26	0	A	NM_182557		118772427	-1	tier1	-	no_errors	ENST00000334801	ensembl	human	known	74_37	silent	44.00	28	22	SNP	0.044	G
BCL9L	283149	genome.wustl.edu	37	11	118769840	118769840	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:118769840G>C	ENST00000334801.3	-	8	4748	c.3784C>G	c.(3784-3786)Cct>Gct	p.P1262A	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1262	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCCTCGGGAGGCAGGGCCATG	0.731																																																	0													8.0	8.0	8.0					11																	118769840		2169	4251	6420	SO:0001583	missense	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3784C>G	11.37:g.118769840G>C	ENSP00000335320:p.Pro1262Ala		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P1262A	ENST00000334801.3	37	c.3784	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596543	0.66332	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849	T	0.66280	-0.2	3.71	3.71	0.42584	.	0.358373	0.19706	N	0.107934	T	0.43875	0.1267	N	0.14661	0.345	0.30460	N	0.774381	P;P	0.41450	0.75;0.634	B;B	0.33690	0.168;0.081	T	0.56649	-0.7944	10	0.72032	D	0.01	-10.405	16.3541	0.83228	0.0:0.0:1.0:0.0	.	1257;1262	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	A	1262;1225;1262	ENSP00000335320:P1262A	ENSP00000335320:P1262A	P	-	1	0	BCL9L	118275050	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.268000	0.65536	2.003000	0.58678	0.455000	0.32223	CCT	BCL9L	-	NULL	ENSG00000186174		0.731	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1		0.00	8	0	G	NM_182557		118769840	-1			no_errors	ENST00000334801	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	C
BCL9L	283149	genome.wustl.edu	37	11	118779083	118779083	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:118779083G>T	ENST00000334801.3	-	2	1272	c.308C>A	c.(307-309)cCt>cAt	p.P103H	BCL9L_ENST00000526143.1_5'UTR|MIR4492_ENST00000581627.1_RNA	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	103					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CGAGCTGAAAGGGGGCACCCC	0.642																																																	0													74.0	71.0	72.0					11																	118779083		2200	4295	6495	SO:0001583	missense	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.308C>A	11.37:g.118779083G>T	ENSP00000335320:p.Pro103His		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P103H	ENST00000334801.3	37	c.308	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903176	0.52333	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085;ENST00000532899	T;T	0.66460	-0.21;-0.21	5.62	3.73	0.42828	.	0.425465	0.20047	N	0.100397	T	0.49525	0.1562	N	0.22421	0.69	0.21553	N	0.999649	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.39099	-0.9630	10	0.42905	T	0.14	0.1834	8.5048	0.33181	0.074:0.0:0.6395:0.2865	.	98;103	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	H	103;66;103;103;103	ENSP00000335320:P103H;ENSP00000432804:P103H	ENSP00000335320:P103H	P	-	2	0	BCL9L	118284293	.	.	1.000000	0.80357	0.996000	0.88848	.	.	0.717000	0.32145	0.561000	0.74099	CCT	BCL9L	-	NULL	ENSG00000186174		0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	-	0.00	27	0	G	NM_182557		118779083	-1	tier1	-	no_errors	ENST00000334801	ensembl	human	known	74_37	missense	42.00	29	21	SNP	0.786	T
BCO1	53630	genome.wustl.edu	37	16	81304016	81304016	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:81304016G>A	ENST00000258168.2	+	7	1557	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	BCMO1_ENST00000425577.2_Missense_Mutation_p.D297N	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CCTCCACGTGGACAAGGTAAT	0.532																																																	0													72.0	71.0	71.0					16																	81304016		2202	4300	6502	SO:0001583	missense	0																														ENST00000258168.2:c.1096G>A	16.37:g.81304016G>A	ENSP00000258168:p.Asp366Asn			Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.D366N	ENST00000258168.2	37	c.1096	CCDS10934.1	16	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461551	0.43736	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.95035	-3.59;-3.59	5.28	4.31	0.51392	.	0.197708	0.52532	D	0.000073	D	0.92283	0.7552	L	0.57130	1.785	0.42692	D	0.993587	B;B	0.33807	0.426;0.183	B;B	0.32677	0.15;0.055	D	0.90255	0.4296	10	0.27785	T	0.31	-24.071	15.9274	0.79628	0.0:0.1355:0.8645:0.0	.	297;366	E7EM88;Q9HAY6	.;BCDO1_HUMAN	N	366;297	ENSP00000258168:D366N;ENSP00000400586:D297N	ENSP00000258168:D366N	D	+	1	0	BCMO1	79861517	1.000000	0.71417	0.855000	0.33649	0.469000	0.32828	3.537000	0.53590	1.199000	0.43173	0.650000	0.86243	GAC	BCMO1	-	pfam_Carotenoid_Oase	ENSG00000135697		0.532	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	HGNC	protein_coding	OTTHUMT00000269056.1	-	0.00	17	0	G			81304016	+1	tier1	-	no_errors	ENST00000258168	ensembl	human	known	74_37	missense	33.33	28	14	SNP	0.994	A
BEGAIN	57596	genome.wustl.edu	37	14	101004530	101004530	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:101004530delC	ENST00000355173.2	-	7	1629	c.1558delG	c.(1558-1560)gacfs	p.D520fs	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Frame_Shift_Del_p.D456fs|BEGAIN_ENST00000443071.2_Frame_Shift_Del_p.D520fs	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	520						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CTGTCCCCGTCCCCCCCCTCG	0.731																																					NSCLC(159;1889 2010 9965 27479 40101)												0									,	40,26,3774		5,0,30,1,24,1860	5.0	6.0	5.0		,	-1.4	0.0	14		5	71,89,7364		3,0,65,6,77,3611	no	codingComplex,codingComplex	BEGAIN	NM_020836.3,NM_001159531.1	,	8,0,95,7,101,5471	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1265,1.7188,1.9887	,	,	101004530	111,115,11138	2064	4061	6125	SO:0001589	frameshift_variant	0			BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1558delG	14.37:g.101004530delC	ENSP00000347301:p.Asp520fs		Q9NPU3|Q9P282	Frame_Shift_Del	DEL	superfamily_Prefoldin	p.D520fs	ENST00000355173.2	37	c.1558	CCDS9962.1	14																																																																																			BEGAIN	-	NULL	ENSG00000183092		0.731	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BEGAIN	HGNC	protein_coding	OTTHUMT00000414329.1		0.00	8	0	C	NM_020836		101004530	-1	tier1		no_errors	ENST00000355173	ensembl	human	known	74_37	frame_shift_del	23.81	16	5	DEL	0.003	-
BIN1	274	genome.wustl.edu	37	2	127825800	127825801	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:127825800_127825801insG	ENST00000316724.5	-	7	961_962	c.550_551insC	c.(550-552)cagfs	p.Q184fs	BIN1_ENST00000346226.3_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000357970.3_Frame_Shift_Ins_p.Q184fs|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000351659.3_Frame_Shift_Ins_p.Q184fs	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	184	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTGGCACCACTGGGGGGCGGCT	0.584											OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.551dupC	2.37:g.127825806_127825806dupG	ENSP00000316779:p.Gln184fs	1560	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Frame_Shift_Ins	INS	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain	p.Q184fs	ENST00000316724.5	37	c.551_550	CCDS2138.1	2																																																																																			BIN1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000136717		0.584	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN1	HGNC	protein_coding	OTTHUMT00000254298.2		0.00	20	0	-	NM_139343		127825801	-1	tier1		no_errors	ENST00000316724	ensembl	human	known	74_37	frame_shift_ins	35.94	41	23	INS	1.000:1.000	G
BLVRA	644	genome.wustl.edu	37	7	43846645	43846645	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:43846645G>T	ENST00000402924.1	+	9	865	c.702G>T	c.(700-702)aaG>aaT	p.K234N	BLVRA_ENST00000265523.4_Missense_Mutation_p.K234N	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	234					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						TCCATTTCAAGTCTGGGTCCT	0.373																																																	0													65.0	64.0	64.0					7																	43846645		2203	4300	6503	SO:0001583	missense	0			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.702G>T	7.37:g.43846645G>T	ENSP00000385757:p.Lys234Asn		A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A	p.K234N	ENST00000402924.1	37	c.702	CCDS5472.1	7	.	.	.	.	.	.	.	.	.	.	G	9.325	1.059089	0.19987	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.23754	1.89;1.89	4.25	1.66	0.24008	Biliverdin reductase, catalytic (2);	0.459170	0.26193	N	0.025796	T	0.13030	0.0316	N	0.22421	0.69	0.30928	N	0.727234	P	0.34780	0.468	B	0.33196	0.159	T	0.22243	-1.0222	10	0.18710	T	0.47	.	6.4497	0.21896	0.6276:0.0:0.3724:0.0	.	234	P53004	BIEA_HUMAN	N	234	ENSP00000265523:K234N;ENSP00000385757:K234N	ENSP00000265523:K234N	K	+	3	2	BLVRA	43813170	0.971000	0.33674	0.998000	0.56505	0.990000	0.78478	0.007000	0.13174	0.102000	0.17638	0.462000	0.41574	AAG	BLVRA	-	pfam_Biliverdin_Rdtase_cat,pirsf_Biliverdin_Rdtase_A	ENSG00000106605		0.373	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BLVRA	HGNC	protein_coding	OTTHUMT00000339006.1	-	0.00	39	0	G	NM_000712		43846645	+1	tier1	-	no_errors	ENST00000265523	ensembl	human	known	74_37	missense	39.58	29	19	SNP	0.993	T
BMS1P20	96610	genome.wustl.edu	37	22	22661174	22661174	+	RNA	DEL	C	C	-	rs377142963		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:22661174delC	ENST00000426066.1	+	0	266					NR_027293.1				BMS1 pseudogene 20																		TACAGGTTTTCCCCCCCCACC	0.403																																																	0																																												0					22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661174delC				RNA	DEL	-	NULL	ENST00000426066.1	37	NULL		22																																																																																			BMS1P20	-	-	ENSG00000236850		0.403	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	BMS1P20	HGNC	processed_transcript	OTTHUMT00000473090.1		0.00	77	0	C			22661174	+1	tier1		no_errors	ENST00000426066	ensembl	human	known	74_37	rna	22.56	103	30	DEL	0.876	-
BMS1P5	399761	genome.wustl.edu	37	10	48930126	48930126	+	RNA	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:48930126delA	ENST00000449800.1	-	0	1320				RNA5SP314_ENST00000410474.1_RNA	NR_003611.2				BMS1 pseudogene 5																		actccctctcaaaaaaaaaaa	0.478																																																	0																																												0					10q11.22	2013-05-22	2007-03-20	2007-03-20	ENSG00000204164				23653	pseudogene	pseudogene			"""BMS1L pseudogene 5"""	BMS1LP5			Standard	NR_003611		Approved	bA508M1.1, OTTHUMG00000018157			OTTHUMG00000018157		10.37:g.48930126delA				RNA	DEL	-	NULL	ENST00000449800.1	37	NULL		10																																																																																			BMS1P5	-	-	ENSG00000204164		0.478	BMS1P5-002	KNOWN	basic	processed_transcript	BMS1P5	HGNC	pseudogene	OTTHUMT00000047906.1		0.00	19	0	A			48930126	-1			no_errors	ENST00000449800	ensembl	human	known	74_37	rna	45.71	19	16	DEL	0.010	0
BNIP3P1	319138	genome.wustl.edu	37	14	28733715	28733715	+	RNA	SNP	G	G	A	rs568137683		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:28733715G>A	ENST00000550043.1	+	0	120									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		AGCACATCCCGCAGCCCGGCG	0.751													-|||	1	0.000199681	0.0008	0.0	5008	,	,		10583	0.0		0.0	False		,,,				2504	0.0																0																																												0					14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28733715G>A				RNA	SNP	-	NULL	ENST00000550043.1	37	NULL		14																																																																																			BNIP3P1	-	-	ENSG00000197358		0.751	BNIP3P1-002	KNOWN	basic	processed_transcript	BNIP3P1	HGNC	pseudogene	OTTHUMT00000408770.1	-	0.00	9	0	G			28733715	+1	tier1	-	no_errors	ENST00000550043	ensembl	human	known	74_37	rna	50.00	11	11	SNP	0.003	A
BOD1L1	259282	genome.wustl.edu	37	4	13606084	13606084	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:13606084T>C	ENST00000040738.5	-	10	2575	c.2440A>G	c.(2440-2442)Ata>Gta	p.I814V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	814	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTGTTTTTATAATATATTCA	0.338																																																	0													64.0	56.0	59.0					4																	13606084		2203	4299	6502	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2440A>G	4.37:g.13606084T>C	ENSP00000040738:p.Ile814Val		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.I814V	ENST00000040738.5	37	c.2440	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	T	12.72	2.023972	0.35701	.	.	ENSG00000038219	ENST00000040738	T	0.08008	3.14	5.42	4.17	0.49024	.	0.136830	0.33691	N	0.004642	T	0.08403	0.0209	L	0.59436	1.845	0.22903	N	0.998587	P	0.44090	0.826	B	0.39152	0.292	T	0.26087	-1.0113	10	0.29301	T	0.29	-10.4882	7.0072	0.24844	0.1774:0.0:0.1245:0.6981	.	814	Q8NFC6	BOD1L_HUMAN	V	814	ENSP00000040738:I814V	ENSP00000040738:I814V	I	-	1	0	BOD1L	13215182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.868000	0.39509	2.056000	0.61249	0.460000	0.39030	ATA	BOD1L1	-	NULL	ENSG00000038219		0.338	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0.00	46	0	T	NM_148894		13606084	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	68.89	14	31	SNP	1.000	C
BPIFB1	92747	genome.wustl.edu	37	20	31876669	31876669	+	Missense_Mutation	SNP	G	G	A	rs374640604		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:31876669G>A	ENST00000253354.1	+	3	399	c.238G>A	c.(238-240)Gtc>Atc	p.V80I		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	80					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.V80I(1)									GGTGAACACCGTCCTGAAGCA	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19301	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)						G	ILE/VAL	0,4406		0,0,2203	67.0	50.0	56.0		238	-7.5	0.0	20		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPIFB1	NM_033197.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	80/485	31876669	1,13005	2203	4300	6503	SO:0001583	missense	0			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.238G>A	20.37:g.31876669G>A	ENSP00000253354:p.Val80Ile		A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form	p.V80I	ENST00000253354.1	37	c.238	CCDS13218.1	20	.	.	.	.	.	.	.	.	.	.	G	0.356	-0.941976	0.02322	0.0	1.16E-4	ENSG00000125999	ENST00000423645;ENST00000253354	T;T	0.06933	3.24;3.24	5.34	-7.51	0.01346	.	0.808315	0.11241	N	0.584655	T	0.01222	0.0040	N	0.00621	-1.32	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.35943	-0.9768	10	0.02654	T	1	-14.9604	1.6018	0.02675	0.4447:0.1029:0.2463:0.2061	.	80;80	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	I	80	ENSP00000390471:V80I;ENSP00000253354:V80I	ENSP00000253354:V80I	V	+	1	0	BPIFB1	31340330	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.627000	0.00410	-1.112000	0.02984	-1.731000	0.00696	GTC	BPIFB1	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form	ENSG00000125999		0.627	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB1	HGNC	protein_coding	OTTHUMT00000106499.2	-	0.00	35	0	G	NM_033197		31876669	+1	tier1	-	no_errors	ENST00000253354	ensembl	human	known	74_37	missense	45.16	33	28	SNP	0.000	A
BRCA2	675	genome.wustl.edu	37	13	32913836	32913837	+	Frame_Shift_Ins	INS	-	-	A	rs80358757|rs80359508|rs80359509|rs80359507|rs80359506		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:32913836_32913837insA	ENST00000380152.3	+	11	5577_5578	c.5344_5345insA	c.(5344-5346)caafs	p.Q1782fs	BRCA2_ENST00000544455.1_Frame_Shift_Ins_p.Q1782fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1782					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.N1784fs*7(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTGAAGATCAAAAAAACACT	0.322			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	1	Deletion - Frameshift(1)	large_intestine(1)	GRCh37	CM067354	BRCA2	M	rs80358757																																			SO:0001589	frameshift_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5351dupA	13.37:g.32913843_32913843dupA	ENSP00000369497:p.Gln1782fs		O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Ins	INS	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.N1784fs	ENST00000380152.3	37	c.5344_5345	CCDS9344.1	13																																																																																			BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.322	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2		0.00	33	0	-	NM_000059		32913837	+1	tier1		no_errors	ENST00000380152	ensembl	human	known	74_37	frame_shift_ins	21.62	29	8	INS	0.000:0.000	A
BRD9	65980	genome.wustl.edu	37	5	876321	876321	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:876321C>A	ENST00000467963.1	-	12	1444	c.1278G>T	c.(1276-1278)caG>caT	p.Q426H	BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000483173.1_Missense_Mutation_p.Q373H|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Missense_Mutation_p.Q310H|BRD9_ENST00000323510.4_Missense_Mutation_p.Q330H	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	426					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TCACAAACTCCTGCAGGCTAG	0.622																																																	0													84.0	69.0	74.0					5																	876321		2203	4300	6503	SO:0001583	missense	0			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1278G>T	5.37:g.876321C>A	ENSP00000419765:p.Gln426His		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q426H	ENST00000467963.1	37	c.1278	CCDS34127.2	5	.	.	.	.	.	.	.	.	.	.	c	9.683	1.149890	0.21371	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000323547;ENST00000483173;ENST00000467963	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.59010	-0.7534	10	0.26408	T	0.33	.	12.4509	0.55677	0.0:0.916:0.0:0.084	.	373;426;104;330;310	B4DMQ2;Q9H8M2;Q8NDF4;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.;.	H	330;310;104;373;426	ENSP00000323557:Q330H;ENSP00000373542:Q310H;ENSP00000419845:Q373H;ENSP00000419765:Q426H	ENSP00000323557:Q330H	Q	-	3	2	BRD9	929321	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	4.553000	0.60753	2.235000	0.73313	0.591000	0.81541	CAG	BRD9	-	pfam_DUF3512	ENSG00000028310		0.622	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1		0.00	20	0	C	NM_023924		876321	-1			no_errors	ENST00000467963	ensembl	human	known	74_37	missense	11.25	71	9	SNP	1.000	A
BRD9	65980	genome.wustl.edu	37	5	878486	878486	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:878486C>T	ENST00000467963.1	-	11	1421	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000483173.1_Missense_Mutation_p.V366M|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Missense_Mutation_p.V303M|BRD9_ENST00000323510.4_Missense_Mutation_p.V323M	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	419					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCACACTGCACGCCTGTCTCA	0.587																																																	0													125.0	103.0	110.0					5																	878486		2203	4300	6503	SO:0001583	missense	0			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1255G>A	5.37:g.878486C>T	ENSP00000419765:p.Val419Met		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.V419M	ENST00000467963.1	37	c.1255	CCDS34127.2	5	.	.	.	.	.	.	.	.	.	.	c	14.86	2.662978	0.47572	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000323547;ENST00000483173;ENST00000467963	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.42	4.43	0.53597	.	0.107288	0.64402	D	0.000006	T	0.57621	0.2066	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.995	D;D;D;P;P	0.68353	0.957;0.957;0.936;0.896;0.863	T	0.61811	-0.6986	10	0.72032	D	0.01	.	3.7653	0.08620	0.0:0.6537:0.0:0.3463	.	366;419;97;323;303	B4DMQ2;Q9H8M2;Q8NDF4;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.;.	M	323;303;97;366;419	ENSP00000323557:V323M;ENSP00000373542:V303M;ENSP00000419845:V366M;ENSP00000419765:V419M	ENSP00000323557:V323M	V	-	1	0	BRD9	931486	0.996000	0.38824	0.953000	0.39169	0.110000	0.19582	3.285000	0.51716	2.538000	0.85594	0.655000	0.94253	GTG	BRD9	-	pfam_DUF3512	ENSG00000028310		0.587	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1		0.00	32	0	C	NM_023924		878486	-1			no_errors	ENST00000467963	ensembl	human	known	74_37	missense	6.72	124	9	SNP	0.983	T
BRPF1	7862	genome.wustl.edu	37	3	9785476	9785476	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:9785476G>A	ENST00000457855.1	+	7	2519	c.2508G>A	c.(2506-2508)cgG>cgA	p.R836R	BRPF1_ENST00000302054.3_Silent_p.R836R|BRPF1_ENST00000424362.1_Silent_p.R835R|BRPF1_ENST00000469066.1_3'UTR|BRPF1_ENST00000433861.2_Silent_p.R836R|BRPF1_ENST00000383829.2_Silent_p.R842R			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	836	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GCCCTGAGCGGCATGGCCCCT	0.637																																																	0													38.0	34.0	35.0					3																	9785476		2202	4300	6502	SO:0001819	synonymous_variant	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2508G>A	3.37:g.9785476G>A			B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.R842	ENST00000457855.1	37	c.2526	CCDS2575.1	3																																																																																			BRPF1	-	NULL	ENSG00000156983		0.637	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	-	0.00	38	0	G	NM_001003694		9785476	+1	tier1	-	no_errors	ENST00000383829	ensembl	human	known	74_37	silent	25.40	47	16	SNP	1.000	A
BRWD3	254065	genome.wustl.edu	37	X	79932174	79932174	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:79932174T>C	ENST00000373275.4	-	41	5559	c.5343A>G	c.(5341-5343)agA>agG	p.R1781R	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1781					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCTGCCTGATCTGGATGTAC	0.353																																																	0													67.0	57.0	61.0					X																	79932174		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5343A>G	X.37:g.79932174T>C			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R1781	ENST00000373275.4	37	c.5343	CCDS14447.1	X																																																																																			BRWD3	-	NULL	ENSG00000165288		0.353	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	-	0.00	12	0	T	NM_153252		79932174	-1	tier1	-	no_errors	ENST00000373275	ensembl	human	known	74_37	silent	70.00	9	21	SNP	1.000	C
BTNL10	100129094	genome.wustl.edu	37	1	228699644	228699644	+	RNA	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:228699644G>A	ENST00000400948.1	-	0	146							A8MVZ5	BTNLA_HUMAN	butyrophilin-like 10							integral component of membrane (GO:0016021)											GTAACTCCACGTGTCCCCCAG	0.577																																																	0																																												0					1q42.13	2014-04-09			ENSG00000215811	ENSG00000215811		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	42540	other	unknown							Standard	NM_001287262		Approved	BUTR1, BTN4		A8MVZ5	OTTHUMG00000153446		1.37:g.228699644G>A				RNA	SNP	-	NULL	ENST00000400948.1	37	NULL		1																																																																																			BTNL10	-	-	ENSG00000215811		0.577	BTNL10-002	KNOWN	basic	processed_transcript	BTNL10	HGNC	pseudogene	OTTHUMT00000331244.2	-	0.00	27	0	G	XM_001722031		228699644	-1	tier1	-	no_errors	ENST00000400948	ensembl	human	known	74_37	rna	57.14	18	24	SNP	0.000	A
BTRC	8945	genome.wustl.edu	37	10	103285773	103285773	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:103285773G>A	ENST00000370187.3	+	6	678	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	BTRC_ENST00000393441.4_Missense_Mutation_p.R146Q|BTRC_ENST00000408038.2_Missense_Mutation_p.R151Q	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	187					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTGAAAGCTCGGGGATTGGAT	0.438																																																	0													94.0	75.0	82.0					10																	103285773		2203	4300	6503	SO:0001583	missense	0			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.560G>A	10.37:g.103285773G>A	ENSP00000359206:p.Arg187Gln		B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R187Q	ENST00000370187.3	37	c.560	CCDS7512.1	10	.	.	.	.	.	.	.	.	.	.	G	9.849	1.193198	0.22037	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000370183	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.53	5.53	0.82687	F-box domain, Skp2-like (1);	0.000000	0.64402	D	0.000002	T	0.19644	0.0472	L	0.46885	1.475	0.58432	D	0.999996	B;B;B	0.20368	0.026;0.044;0.014	B;B;B	0.06405	0.002;0.002;0.001	T	0.02844	-1.1103	10	0.25106	T	0.35	-11.1644	13.7265	0.62761	0.0737:0.0:0.9263:0.0	.	161;151;187	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	Q	187;146;151;169	ENSP00000359206:R187Q;ENSP00000377088:R146Q;ENSP00000385339:R151Q;ENSP00000359202:R169Q	ENSP00000359202:R169Q	R	+	2	0	BTRC	103275763	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.612000	0.82975	2.611000	0.88343	0.650000	0.86243	CGG	BTRC	-	superfamily_F-box_dom	ENSG00000166167		0.438	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTRC	HGNC	protein_coding	OTTHUMT00000049936.1	-	0.00	60	0	G	NM_033637		103285773	+1	tier1	-	no_errors	ENST00000370187	ensembl	human	known	74_37	missense	27.63	55	21	SNP	1.000	A
C11orf40	143501	genome.wustl.edu	37	11	4592711	4592711	+	Missense_Mutation	SNP	T	T	A	rs78543312		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:4592711T>A	ENST00000307616.1	-	4	595	c.596A>T	c.(595-597)aAc>aTc	p.N199I		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	199										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		atccatacagtttttccCTGC	0.443																																																	0													84.0	74.0	77.0					11																	4592711		2137	4195	6332	SO:0001583	missense	0				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.596A>T	11.37:g.4592711T>A	ENSP00000302918:p.Asn199Ile			Missense_Mutation	SNP	NULL	p.N199I	ENST00000307616.1	37	c.596	CCDS31354.1	11	.	.	.	.	.	.	.	.	.	.	T	0.390	-0.923749	0.02377	.	.	ENSG00000171987	ENST00000307616	T	0.53857	0.6	0.56	0.56	0.17279	.	.	.	.	.	T	0.47135	0.1429	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	D	0.68039	0.955	T	0.37731	-0.9693	8	0.87932	D	0	.	.	.	.	.	199	Q8WZ69	CK040_HUMAN	I	199	ENSP00000302918:N199I	ENSP00000302918:N199I	N	-	2	0	C11orf40	4549287	0.002000	0.14202	0.004000	0.12327	0.020000	0.10135	0.670000	0.25157	0.473000	0.27368	0.155000	0.16302	AAC	C11orf40	-	NULL	ENSG00000171987		0.443	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf40	HGNC	protein_coding	OTTHUMT00000383529.1		0.00	74	0	T	NM_144663		4592711	-1			no_errors	ENST00000307616	ensembl	human	known	74_37	missense	7.69	84	7	SNP	0.006	A
C11orf30	56946	genome.wustl.edu	37	11	76256924	76256924	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:76256924A>G	ENST00000529032.1	+	19	3357	c.3357A>G	c.(3355-3357)atA>atG	p.I1119M	C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Missense_Mutation_p.I1028M|C11orf30_ENST00000525038.1_Missense_Mutation_p.I1120M|C11orf30_ENST00000524767.1_Missense_Mutation_p.I1134M|C11orf30_ENST00000525919.1_Missense_Mutation_p.I1120M|C11orf30_ENST00000524490.1_Missense_Mutation_p.I1021M|C11orf30_ENST00000334736.3_Missense_Mutation_p.I1119M			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1119					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TTACAAAGATAACTGGTGGCA	0.453																																																	0													80.0	78.0	79.0					11																	76256924		2200	4292	6492	SO:0001583	missense	0			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3357A>G	11.37:g.76256924A>G	ENSP00000432327:p.Ile1119Met		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	pfam_ENT_N,pfscan_ENT_N	p.I1119M	ENST00000529032.1	37	c.3357	CCDS8244.1	11	.	.	.	.	.	.	.	.	.	.	A	12.59	1.983136	0.34942	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.5	5.5	0.81552	.	0.435243	0.28268	N	0.015970	T	0.35566	0.0936	N	0.08118	0	0.80722	D	1	D;B;B;B;B;B	0.56521	0.976;0.255;0.255;0.255;0.255;0.255	P;B;B;B;B;B	0.50570	0.644;0.048;0.048;0.044;0.03;0.044	T	0.23511	-1.0186	9	0.40728	T	0.16	-9.0043	10.8759	0.46911	0.9274:0.0:0.0726:0.0	.	1028;1120;1134;1120;1021;1119	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	M	1021;1119;801;1134;1028;1120;1120;1119	.	ENSP00000334130:I1119M	I	+	3	3	C11orf30	75934572	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.726000	0.47302	2.299000	0.77371	0.528000	0.53228	ATA	C11orf30	-	NULL	ENSG00000158636		0.453	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2	-	0.00	32	0	A	NM_020193		76256924	+1	tier1	-	no_errors	ENST00000334736	ensembl	human	known	74_37	missense	41.67	21	15	SNP	1.000	G
HEATR4	399671	genome.wustl.edu	37	14	73959704	73959706	+	Intron	DEL	TTT	TTT	-	rs574298293|rs545384904	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:73959704_73959706delTTT	ENST00000553558.1	-	17	3166				C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CACTGCTACCTTTTTTTTTTTTT	0.419																																																	0																																										SO:0001627	intron_variant	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+63AAA>-	14.37:g.73959713_73959715delTTT			B7Z7V9|E9KL41	RNA	DEL	-	NULL	ENST00000553558.1	37	NULL	CCDS9815.2	14																																																																																			C14orf169	-	-	ENSG00000255242		0.419	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf169	HGNC	protein_coding	OTTHUMT00000414422.2		0.00	26	0	TTT	NM_203309		73959706	+1	tier1		no_errors	ENST00000531973	ensembl	human	known	74_37	rna	39.06	39	25	DEL	0.000:0.000:0.001	-
C15orf27	123591	genome.wustl.edu	37	15	76496546	76496546	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:76496546T>A	ENST00000388942.3	+	11	1762	c.1486T>A	c.(1486-1488)Ttt>Att	p.F496I		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	496					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CTTCACTGTCTTTCAGATCAG	0.587																																																	0													85.0	90.0	89.0					15																	76496546		2197	4294	6491	SO:0001583	missense	0			AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.1486T>A	15.37:g.76496546T>A	ENSP00000373594:p.Phe496Ile		Q8N993|Q96LL5	Missense_Mutation	SNP	NULL	p.F496I	ENST00000388942.3	37	c.1486	CCDS10289.2	15	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672571	0.67928	.	.	ENSG00000169758	ENST00000388942	T	0.34275	1.37	4.75	1.09	0.20402	.	0.347066	0.31051	N	0.008352	T	0.30230	0.0758	M	0.64997	1.995	0.34011	D	0.651493	B	0.14438	0.01	B	0.18561	0.022	T	0.20874	-1.0262	10	0.87932	D	0	-21.3182	4.04	0.09746	0.0:0.1922:0.1797:0.6281	.	496	Q2M3C6	CO027_HUMAN	I	496	ENSP00000373594:F496I	ENSP00000373594:F496I	F	+	1	0	C15orf27	74283601	0.968000	0.33430	0.002000	0.10522	0.993000	0.82548	1.760000	0.38430	-0.068000	0.12953	0.455000	0.32223	TTT	C15orf27	-	NULL	ENSG00000169758		0.587	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C15orf27	HGNC	protein_coding	OTTHUMT00000286637.2	-	0.00	27	0	T	NM_152335		76496546	+1	tier1	-	no_errors	ENST00000388942	ensembl	human	known	74_37	missense	70.27	11	26	SNP	0.780	A
C18orf61	497259	genome.wustl.edu	37	18	12212029	12212029	+	RNA	DEL	A	A	-	rs201795628|rs537036299|rs56051754|rs77708167|rs571822025|rs200104969|rs71369907	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:12212029delA	ENST00000586882.1	+	0	125					NR_049896.1																						CGATTCTGTTAAAAAAAAAAA	0.313																																																	0																																												0																															18.37:g.12212029delA				RNA	DEL	-	NULL	ENST00000586882.1	37	NULL		18																																																																																			RP11-64C12.3	-	-	ENSG00000267733		0.313	RP11-64C12.3-002	KNOWN	basic	processed_transcript	C18orf61	Clone_based_vega_gene	pseudogene	OTTHUMT00000452742.1		0.00	22	0	A			12212029	+1	tier1		no_errors	ENST00000586642	ensembl	human	known	74_37	rna	23.08	40	12	DEL	0.923	-
C1orf106	55765	genome.wustl.edu	37	1	200870139	200870141	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:200870139_200870141delGGA	ENST00000367342.4	+	5	827_829	c.627_629delGGA	c.(625-630)ctggag>ctg	p.E211del	C1orf106_ENST00000413687.2_In_Frame_Del_p.E126del	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	211										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGCTGTGCCTGGAGGAGAACCTC	0.68																																																	0																																										SO:0001651	inframe_deletion	0			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.627_629delGGA	1.37:g.200870142_200870144delGGA	ENSP00000356311:p.Glu211del		B4E1K9|E9PFY0|Q9NV65|Q9NVI0	In_Frame_Del	DEL	pfam_DUF3338	p.E211in_frame_del	ENST00000367342.4	37	c.627_629		1																																																																																			C1orf106	-	pfam_DUF3338	ENSG00000163362		0.680	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2		0.00	33	0	GGA	NM_018265		200870141	+1	tier1		no_errors	ENST00000367342	ensembl	human	known	74_37	in_frame_del	42.86	24	18	DEL	0.398:0.985:1.000	-
C1orf127	148345	genome.wustl.edu	37	1	11008750	11008750	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:11008750G>A	ENST00000377008.4	-	11	1387	c.941C>T	c.(940-942)aCg>aTg	p.T314M	C1orf127_ENST00000377004.4_Missense_Mutation_p.T481M			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	314	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CGAGGGGAGCGTGGCTGGAGG	0.662																																																	0													41.0	47.0	45.0					1																	11008750		2203	4300	6503	SO:0001583	missense	0			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.941C>T	1.37:g.11008750G>A	ENSP00000366207:p.Thr314Met		A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	superfamily_DNA-bd_dom_put	p.T481M	ENST00000377008.4	37	c.1442		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.21|13.21	2.168344|2.168344	0.38315|0.38315	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.32515	.|1.45;1.45	4.67|4.67	-0.493|-0.493	0.12038|0.12038	.|.	.|0.891435	.|0.09430	.|N	.|0.803224	T|T	0.14313|0.14313	0.0346|0.0346	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.42961	.|0.795;0.795;0.795	.|B;B;B	.|0.27608	.|0.081;0.081;0.081	T|T	0.14364|0.14364	-1.0475|-1.0475	5|10	.|0.52906	.|T	.|0.07	0.1216|0.1216	6.8546|6.8546	0.24034|0.24034	0.5379:0.0:0.4621:0.0|0.5379:0.0:0.4621:0.0	.|.	.|332;306;314	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	C|M	316;433|481;314	.|ENSP00000366203:T481M;ENSP00000366207:T314M	.|ENSP00000366203:T481M	R|T	-|-	1|2	0|0	C1orf127|C1orf127	10931337|10931337	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.013000|0.013000	0.13310|0.13310	0.082000|0.082000	0.17018|0.17018	-0.339000|-0.339000	0.08088|0.08088	CGC|ACG	C1orf127	-	NULL	ENSG00000175262		0.662	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	HGNC	protein_coding		-	0.00	50	0	G	NM_173507		11008750	-1	tier1	-	no_errors	ENST00000377004	ensembl	human	known	74_37	missense	16.22	62	12	SNP	0.000	A
C1orf162	128346	genome.wustl.edu	37	1	112019580	112019580	+	Intron	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:112019580G>T	ENST00000343534.5	+	3	357				C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Intron	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162							integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		TGGGCAGGGAGACTGGGGAGA	0.458																																																	0																																										SO:0001627	intron_variant	0			BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.107+91G>T	1.37:g.112019580G>T			Q5QNZ1	RNA	SNP	-	NULL	ENST00000343534.5	37	NULL	CCDS837.1	1																																																																																			C1orf162	-	-	ENSG00000143110		0.458	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf162	HGNC	protein_coding	OTTHUMT00000032471.1	-	0.00	32	0	G	NM_174896		112019580	+1	tier1	-	no_errors	ENST00000464591	ensembl	human	known	74_37	rna	33.33	30	15	SNP	0.000	T
C2orf42	54980	genome.wustl.edu	37	2	70387883	70387883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:70387883G>A	ENST00000264434.2	-	9	1769	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	C2orf42_ENST00000420306.1_Nonsense_Mutation_p.R464*	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	464										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GTCCCATCTCGGTTCTGGATA	0.428																																																	0													102.0	100.0	100.0					2																	70387883		2203	4300	6503	SO:0001587	stop_gained	0			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1390C>T	2.37:g.70387883G>A	ENSP00000264434:p.Arg464*		D6W5G3|Q9H629	Nonsense_Mutation	SNP	NULL	p.R464*	ENST00000264434.2	37	c.1390	CCDS1899.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.312986	0.97467	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	.	.	.	5.24	5.24	0.73138	.	0.351400	0.30732	N	0.008997	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.1456	17.5771	0.87953	0.0:0.0:1.0:0.0	.	.	.	.	X	464	.	ENSP00000264434:R464X	R	-	1	2	C2orf42	70241387	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.785000	0.62418	2.726000	0.93360	0.650000	0.86243	CGA	C2orf42	-	NULL	ENSG00000115998		0.428	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1	-	0.00	60	0	G	NM_017880		70387883	-1	tier1	-	no_errors	ENST00000264434	ensembl	human	known	74_37	nonsense	43.75	45	35	SNP	1.000	A
CATIP	375307	genome.wustl.edu	37	2	219222406	219222406	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:219222406G>A	ENST00000289388.3	+	3	297	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		90					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCGTGCATGCCTCTAGCCG	0.567																																																	0													76.0	71.0	73.0					2																	219222406		2203	4300	6503	SO:0001583	missense	0																														ENST00000289388.3:c.268G>A	2.37:g.219222406G>A	ENSP00000289388:p.Ala90Thr			Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.A90T	ENST00000289388.3	37	c.268	CCDS2414.1	2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001228	0.54254	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	M	0.75264	2.295	0.45403	D	0.99838	D	0.89917	1.0	D	0.87578	0.998	T	0.77146	-0.2695	9	0.44086	T	0.13	-3.0224	13.383	0.60780	0.0:0.0:1.0:0.0	.	90	Q7Z7H3	CB062_HUMAN	T	90	.	ENSP00000289388:A90T	A	+	1	0	C2orf62	218930650	0.991000	0.36638	0.972000	0.41901	0.019000	0.09904	4.790000	0.62453	2.536000	0.85505	0.563000	0.77884	GCC	C2orf62	-	NULL	ENSG00000158428		0.567	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf62	HGNC	protein_coding	OTTHUMT00000256771.1	-	0.00	55	0	G			219222406	+1	tier1	-	no_errors	ENST00000289388	ensembl	human	known	74_37	missense	25.00	42	14	SNP	0.982	A
ZGRF1	55345	genome.wustl.edu	37	4	113539992	113539992	+	Silent	SNP	T	T	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:113539992T>A	ENST00000505019.1	-	6	1331	c.1206A>T	c.(1204-1206)gtA>gtT	p.V402V	C4orf21_ENST00000309071.5_Silent_p.V402V|C4orf21_ENST00000445203.2_Silent_p.V371V	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		402						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTTCTAATTTTACTTCCTGAT	0.343																																																	0													91.0	92.0	91.0					4																	113539992		2203	4299	6502	SO:0001819	synonymous_variant	0																														ENST00000505019.1:c.1206A>T	4.37:g.113539992T>A			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.V402	ENST00000505019.1	37	c.1206		4																																																																																			C4orf21	-	NULL	ENSG00000138658		0.343	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	-	0.00	39	0	T			113539992	-1	tier1	-	no_errors	ENST00000505019	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.000	A
C4orf29	80167	genome.wustl.edu	37	4	128949844	128949844	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:128949844G>A	ENST00000444616.1	+	10	1161	c.914G>A	c.(913-915)cGc>cAc	p.R305H	C4orf29_ENST00000398965.1_Missense_Mutation_p.R305H|C4orf29_ENST00000388795.5_Missense_Mutation_p.R257H			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	305						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						AAGATGAAGCGCTTCAATCAA	0.413																																																	0													87.0	86.0	87.0					4																	128949844		1909	4123	6032	SO:0001583	missense	0			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.914G>A	4.37:g.128949844G>A	ENSP00000397229:p.Arg305His		A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	pfam_DUF2048	p.R305H	ENST00000444616.1	37	c.914		4	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253828	0.22965	.	.	ENSG00000164074	ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	4.87	2.03	0.26663	.	1.208480	0.05354	N	0.532391	T	0.29190	0.0726	N	0.14661	0.345	0.09310	N	0.999998	P;P	0.46912	0.886;0.637	P;B	0.48030	0.564;0.333	T	0.22836	-1.0205	9	0.44086	T	0.13	-4.1555	6.2946	0.21079	0.0748:0.2525:0.5553:0.1174	.	257;305	B7WP89;Q0P651	.;CD029_HUMAN	H	305;136;305;305;257;223;212	.	ENSP00000373447:R257H	R	+	2	0	C4orf29	129169294	0.989000	0.36119	0.112000	0.21494	0.174000	0.22865	0.991000	0.29654	0.629000	0.30376	-0.145000	0.13849	CGC	C4orf29	-	pfam_DUF2048	ENSG00000164074		0.413	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	C4orf29	HGNC	protein_coding	OTTHUMT00000257098.1	-	0.00	20	0	G	NM_001039717		128949844	+1	tier1	-	no_errors	ENST00000398965	ensembl	human	known	74_37	missense	31.25	11	5	SNP	0.053	A
C5orf42	65250	genome.wustl.edu	37	5	37198930	37198931	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:37198930_37198931insT	ENST00000508244.1	-	19	3638_3639	c.3545_3546insA	c.(3544-3546)aatfs	p.N1182fs	C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.N1182fs|C5orf42_ENST00000274258.7_Frame_Shift_Ins_p.N63fs			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1182						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCTGGCGATTATTTTTTTCAGC	0.376																																																	0																																										SO:0001589	frameshift_variant	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3546dupA	5.37:g.37198937_37198937dupT	ENSP00000421690:p.Asn1182fs		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Frame_Shift_Ins	INS	superfamily_Quino_amine_DH_bsu	p.N1182fs	ENST00000508244.1	37	c.3546_3545	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.376	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1		0.00	23	0	0	NM_023073		37198931	-1			no_errors	ENST00000425232	ensembl	human	known	74_37	frame_shift_ins	9.86	64	7	INS	0.003:0.889	T
C6	729	genome.wustl.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				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)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																																	0			GRCh37	CD982526	C6	D																																				SO:0001589	frameshift_variant	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.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs			Frame_Shift_Ins	INS	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.S276fs	ENST00000263413.3	37	c.829_828	CCDS3936.1	5																																																																																			C6	-	NULL	ENSG00000039537		0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1		0.00	32	0	-			41181560	-1	tier1		no_errors	ENST00000263413	ensembl	human	known	74_37	frame_shift_ins	12.87	88	13	INS	0.000:0.000	C
C6orf118	168090	genome.wustl.edu	37	6	165715153	165715153	+	Missense_Mutation	SNP	G	G	A	rs140500230		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:165715153G>A	ENST00000230301.8	-	2	678	c.658C>T	c.(658-660)Cgt>Tgt	p.R220C	C6orf118_ENST00000543069.1_Missense_Mutation_p.R116C	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	220										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCTGGAAACGCAGGAACATC	0.617																																																	0								G	CYS/ARG	0,4406		0,0,2203	73.0	71.0	72.0		658	-9.9	0.1	6	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	C6orf118	NM_144980.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	220/470	165715153	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.658C>T	6.37:g.165715153G>A	ENSP00000230301:p.Arg220Cys		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.R220C	ENST00000230301.8	37	c.658	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	G	9.618	1.132985	0.21041	0.0	1.16E-4	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.14022	2.54;2.54	4.92	-9.85	0.00476	.	1.154050	0.06243	N	0.690742	T	0.01489	0.0048	N	0.05441	-0.05	0.28368	N	0.920129	B	0.18610	0.029	B	0.06405	0.002	T	0.41142	-0.9525	10	0.45353	T	0.12	.	8.7614	0.34676	0.131:0.0:0.5933:0.2757	.	220	Q5T5N4	CF118_HUMAN	C	220;116	ENSP00000230301:R220C;ENSP00000439288:R116C	ENSP00000230301:R220C	R	-	1	0	C6orf118	165635143	0.000000	0.05858	0.053000	0.19242	0.362000	0.29581	-0.357000	0.07651	-2.664000	0.00417	-0.362000	0.07510	CGT	C6orf118	-	superfamily_Ribonuclease/ribotoxin	ENSG00000112539		0.617	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	-	0.00	22	0	G	NM_144980		165715153	-1	tier1	rs140500230	no_errors	ENST00000230301	ensembl	human	known	74_37	missense	51.61	15	16	SNP	0.535	A
C9orf131	138724	genome.wustl.edu	37	9	35044004	35044005	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:35044004_35044005insA	ENST00000312292.5	+	2	1425_1426	c.1378_1379insA	c.(1378-1380)gaafs	p.E460fs	C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.E387fs|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.E412fs|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	460										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GCAAAGTAGAGAAAATATTTGG	0.55																																																	0																																										SO:0001589	frameshift_variant	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1382dupA	9.37:g.35044008_35044008dupA	ENSP00000308279:p.Glu460fs		A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Ins	INS	NULL	p.N461fs	ENST00000312292.5	37	c.1378_1379	CCDS6572.2	9																																																																																			C9orf131	-	NULL	ENSG00000174038		0.550	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5		0.00	11	0	-	NM_203299		35044005	+1	tier1		no_errors	ENST00000312292	ensembl	human	known	74_37	frame_shift_ins	41.67	14	10	INS	0.083:0.084	A
CACNA1B	774	genome.wustl.edu	37	9	140941361	140941361	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:140941361G>A	ENST00000371372.1	+	22	3564	c.3419G>A	c.(3418-3420)cGc>cAc	p.R1140H	CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1140H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1141H|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1140H|CACNA1B_ENST00000545473.1_Missense_Mutation_p.R166H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1141H|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R332H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1140					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CACAGGCTCCGCCGCTTCTGC	0.657																																																	0													52.0	55.0	54.0					9																	140941361		2120	4218	6338	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3419G>A	9.37:g.140941361G>A	ENSP00000360423:p.Arg1140His		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R1141H	ENST00000371372.1	37	c.3422	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681340	0.88542	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000545473	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.93854	3.465	0.80722	D	1	D;D;D	0.63046	0.992;0.987;0.987	P;P;P	0.55508	0.653;0.777;0.777	T	0.79417	-0.1812	10	0.87932	D	0	.	17.4399	0.87562	0.0:0.0:1.0:0.0	.	1140;1141;1140	B1AQK4;B1AQK7;B1AQK6	.;.;.	H	1140;1140;332;1140;1141;1141;166	ENSP00000360423:R1140H;ENSP00000277551:R1140H;ENSP00000277549:R332H;ENSP00000360414:R1140H;ENSP00000360408:R1141H;ENSP00000360406:R1141H;ENSP00000441232:R166H	ENSP00000277549:R332H	R	+	2	0	CACNA1B	140061182	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	9.632000	0.98428	2.416000	0.81992	0.561000	0.74099	CGC	CACNA1B	-	NULL	ENSG00000148408		0.657	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	-	0.00	45	0	G	NM_000718		140941361	+1	tier1	-	no_errors	ENST00000371355	ensembl	human	known	74_37	missense	20.45	70	18	SNP	1.000	A
CACNA1C	775	genome.wustl.edu	37	12	2693755	2693757	+	In_Frame_Del	DEL	GAG	GAG	-	rs377519371		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:2693755_2693757delGAG	ENST00000347598.4	+	16	2311_2313	c.2311_2313delGAG	c.(2311-2313)gagdel	p.E772del	CACNA1C_ENST00000402845.3_In_Frame_Del_p.E772del|CACNA1C_ENST00000406454.3_In_Frame_Del_p.E772del|CACNA1C_ENST00000480911.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399595.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000327702.7_In_Frame_Del_p.E772del|CACNA1C_ENST00000399629.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399655.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000344100.3_In_Frame_Del_p.E772del|CACNA1C_ENST00000399621.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000335762.5_In_Frame_Del_p.E797del|CACNA1C_ENST00000399603.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399606.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399617.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399601.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399641.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399638.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399644.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399637.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399634.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399597.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399591.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399649.1_In_Frame_Del_p.E772del	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	772	Poly-Glu.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E771D(3)|p.E306D(1)|p.E801D(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ggaggaggaagaggagaaggaga	0.542																																																	5	Substitution - Missense(5)	lung(5)																																								SO:0001651	inframe_deletion	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2311_2313delGAG	12.37:g.2693758_2693760delGAG	ENSP00000266376:p.Glu772del		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	In_Frame_Del	DEL	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E772in_frame_del	ENST00000347598.4	37	c.2311_2313	CCDS44788.1	12																																																																																			CACNA1C	-	NULL	ENSG00000151067		0.542	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0.00	21	0	GAG	NM_000719		2693757	+1	tier1		no_errors	ENST00000399634	ensembl	human	known	74_37	in_frame_del	35.00	39	21	DEL	1.000:1.000:1.000	-
CACNA1C	775	genome.wustl.edu	37	12	2693757	2693757	+	Silent	SNP	G	G	A	rs377519371		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:2693757G>A	ENST00000347598.4	+	16	2313	c.2313G>A	c.(2311-2313)gaG>gaA	p.E771E	CACNA1C_ENST00000402845.3_Silent_p.E771E|CACNA1C_ENST00000406454.3_Silent_p.E771E|CACNA1C_ENST00000480911.1_Silent_p.E771E|CACNA1C_ENST00000399595.1_Silent_p.E771E|CACNA1C_ENST00000327702.7_Silent_p.E771E|CACNA1C_ENST00000399629.1_Silent_p.E771E|CACNA1C_ENST00000399655.1_Silent_p.E771E|CACNA1C_ENST00000344100.3_Silent_p.E771E|CACNA1C_ENST00000399621.1_Silent_p.E771E|CACNA1C_ENST00000335762.5_Silent_p.E796E|CACNA1C_ENST00000399603.1_Silent_p.E771E|CACNA1C_ENST00000399606.1_Silent_p.E771E|CACNA1C_ENST00000399617.1_Silent_p.E771E|CACNA1C_ENST00000399601.1_Silent_p.E771E|CACNA1C_ENST00000399641.1_Silent_p.E771E|CACNA1C_ENST00000399638.1_Silent_p.E771E|CACNA1C_ENST00000399644.1_Silent_p.E771E|CACNA1C_ENST00000399637.1_Silent_p.E771E|CACNA1C_ENST00000399634.1_Silent_p.E771E|CACNA1C_ENST00000399597.1_Silent_p.E771E|CACNA1C_ENST00000399591.1_Silent_p.E771E|CACNA1C_ENST00000399649.1_Silent_p.E771E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	771	Poly-Glu.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E771D(3)|p.E306D(1)|p.E801D(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aggaggaagaggagaaggaga	0.547																																																	5	Substitution - Missense(5)	lung(5)											68.0	74.0	72.0					12																	2693757		1969	4179	6148	SO:0001819	synonymous_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2313G>A	12.37:g.2693757G>A			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E771	ENST00000347598.4	37	c.2313	CCDS44788.1	12																																																																																			CACNA1C	-	NULL	ENSG00000151067		0.547	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0.00	21	0	G	NM_000719		2693757	+1			no_errors	ENST00000399634	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	A
CACNA1G	8913	genome.wustl.edu	37	17	48701760	48701760	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:48701760G>T	ENST00000359106.5	+	37	6269	c.6269G>T	c.(6268-6270)aGc>aTc	p.S2090I	CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1972I|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2056I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1974I|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2045I|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S1963I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2034I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2027I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1940I|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2004I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2079I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1963I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2000I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1952I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1997I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1986I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2011I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1945I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1956I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1963I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1986I|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1979I|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1997I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1990I|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2019I	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2090					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAGATACCAGCTACATCCTG	0.647																																																	0													32.0	32.0	32.0					17																	48701760		2004	4172	6176	SO:0001583	missense	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6269G>T	17.37:g.48701760G>T	ENSP00000352011:p.Ser2090Ile		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.S2090I	ENST00000359106.5	37	c.6269	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	g	18.52	3.642424	0.67244	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97303	-4.21;-4.2;-4.15;-4.21;-4.23;-4.23;-4.33;-4.29;-4.3;-4.32;-4.2;-4.17;-4.28;-4.2;-4.17;-4.24;-4.2;-4.2;-4.24;-4.16;-4.18;-4.23;-4.19;-4.19;-4.18	5.53	5.53	0.82687	.	22.621500	0.00166	N	0.000000	D	0.97776	0.9270	L	0.48642	1.525	0.37694	D	0.923947	D;B;D;D;P;P;D;D;D;B;D;B;B;P;D;B;D;P;P;P;D;P;D;P;P	0.71674	0.998;0.399;0.998;0.998;0.92;0.949;0.996;0.988;0.996;0.399;0.978;0.438;0.399;0.731;0.983;0.263;0.992;0.713;0.865;0.955;0.998;0.836;0.978;0.731;0.877	D;B;D;D;P;P;D;P;D;B;P;B;B;P;D;B;P;P;P;P;D;B;P;P;B	0.85130	0.988;0.194;0.997;0.991;0.623;0.778;0.991;0.905;0.991;0.194;0.828;0.36;0.194;0.451;0.914;0.15;0.84;0.513;0.52;0.638;0.988;0.418;0.828;0.451;0.276	D	0.91002	0.4843	10	0.22706	T	0.39	.	10.0042	0.41946	0.1496:0.0:0.8504:0.0	.	1940;1952;1945;2027;2000;1972;2004;1963;1990;1986;1997;2019;1986;2079;1979;2034;1997;2067;2045;1963;1956;2011;1974;2090;1963	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	I	1974;1963;2056;1956;2019;1986;1952;1940;1945;1963;2045;2079;2000;1990;2011;1997;1972;2034;2004;1963;2090;1979;2027;1997;1986	ENSP00000353990:S1974I;ENSP00000339302:S1963I;ENSP00000347078:S2056I;ENSP00000409759:S1956I;ENSP00000425522:S2019I;ENSP00000426261:S1986I;ENSP00000425451:S1952I;ENSP00000422407:S1940I;ENSP00000426814:S1945I;ENSP00000427238:S1963I;ENSP00000423112:S2045I;ENSP00000420918:S2079I;ENSP00000426172:S2000I;ENSP00000423045:S1990I;ENSP00000427173:S2011I;ENSP00000426098:S1997I;ENSP00000425698:S1972I;ENSP00000426232:S2034I;ENSP00000423317:S2004I;ENSP00000350979:S1963I;ENSP00000352011:S2090I;ENSP00000414388:S1979I;ENSP00000423155:S2027I;ENSP00000422268:S1997I;ENSP00000421518:S1986I	ENSP00000339302:S1963I	S	+	2	0	CACNA1G	46056759	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.018000	0.40991	2.596000	0.87737	0.561000	0.74099	AGC	CACNA1G	-	NULL	ENSG00000006283		0.647	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1		0.00	25	0	G	NM_018896		48701760	+1			no_errors	ENST00000359106	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T
CACNG3	10368	genome.wustl.edu	37	16	24372735	24372735	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:24372735C>T	ENST00000005284.3	+	4	1701	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	167					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCCCGGGCAGCGTGACTCCAA	0.443																																																	0													118.0	130.0	126.0					16																	24372735		2197	4300	6497	SO:0001583	missense	0			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.499C>T	16.37:g.24372735C>T	ENSP00000005284:p.Arg167Cys			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	p.R167C	ENST00000005284.3	37	c.499	CCDS10620.1	16	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404663	0.42613	.	.	ENSG00000006116	ENST00000005284	D	0.89343	-2.5	4.96	2.77	0.32553	.	0.044035	0.85682	D	0.000000	D	0.90431	0.7004	M	0.83953	2.67	0.46678	D	0.99915	P	0.46912	0.886	P	0.48030	0.564	D	0.90129	0.4205	10	0.59425	D	0.04	-7.0825	10.5357	0.45002	0.6161:0.3838:0.0:0.0	.	167	O60359	CCG3_HUMAN	C	167	ENSP00000005284:R167C	ENSP00000005284:R167C	R	+	1	0	CACNG3	24280236	1.000000	0.71417	0.533000	0.28001	0.378000	0.30076	5.414000	0.66405	1.003000	0.39130	0.655000	0.94253	CGT	CACNG3	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000006116		0.443	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG3	HGNC	protein_coding	OTTHUMT00000254548.1	-	0.00	37	0	C	NM_006539		24372735	+1	tier1	-	no_errors	ENST00000005284	ensembl	human	known	74_37	missense	65.38	18	34	SNP	0.996	T
CALCOCO1	57658	genome.wustl.edu	37	12	54105819	54105819	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:54105819C>T	ENST00000550804.1	-	15	2045	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.R661H|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.R577H|CALCOCO1_ENST00000548263.1_3'UTR			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	662	C-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGCAGGAAAGCGCTCCTTACA	0.542																																																	0													168.0	145.0	153.0					12																	54105819		2203	4300	6503	SO:0001583	missense	0			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1985G>A	12.37:g.54105819C>T	ENSP00000449960:p.Arg662His		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	pfam_CoCoA	p.R662H	ENST00000550804.1	37	c.1985	CCDS8864.1	12	.	.	.	.	.	.	.	.	.	.	c	14.41	2.526850	0.44969	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000550804	T;T;T	0.35421	1.31;2.84;2.77	4.26	3.36	0.38483	.	0.224065	0.23169	N	0.051151	T	0.20861	0.0502	N	0.14661	0.345	0.35451	D	0.79567	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.001;0.002	B;B;B;B;B	0.06405	0.0;0.002;0.0;0.001;0.001	T	0.16276	-1.0408	10	0.49607	T	0.09	-8.0488	9.7227	0.40313	0.0:0.8964:0.0:0.1036	.	577;661;577;662;363	E9PAU0;Q9P1Z2-3;E7EPK7;Q9P1Z2;E9PGB0	.;.;.;CACO1_HUMAN;.	H	363;577;661;600;662	ENSP00000397189:R577H;ENSP00000262059:R661H;ENSP00000449960:R662H	ENSP00000262059:R661H	R	-	2	0	CALCOCO1	52392086	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.188000	0.32102	2.386000	0.81285	0.457000	0.33378	CGC	CALCOCO1	-	NULL	ENSG00000012822		0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	-	0.00	63	0	C	NM_020898		54105819	-1	tier1	-	no_errors	ENST00000550804	ensembl	human	known	74_37	missense	47.89	37	34	SNP	1.000	T
CAP2	10486	genome.wustl.edu	37	6	17507510	17507510	+	Silent	SNP	C	C	T	rs556554484		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:17507510C>T	ENST00000229922.2	+	5	943	c.411C>T	c.(409-411)agC>agT	p.S137S	CAP2_ENST00000378990.2_Silent_p.S111S|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Silent_p.S137S|CAP2_ENST00000489374.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	137					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CGGCCGTCAGCGAAAGCATCC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		19777	0.0		0.0	False		,,,				2504	0.001																0													131.0	103.0	113.0					6																	17507510		2203	4300	6503	SO:0001819	synonymous_variant	0			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.411C>T	6.37:g.17507510C>T			B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Silent	SNP	pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.S137	ENST00000229922.2	37	c.411	CCDS4539.1	6																																																																																			CAP2	-	pfam_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_N	ENSG00000112186		0.473	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAP2	HGNC	protein_coding	OTTHUMT00000039952.2	-	0.00	70	0	C			17507510	+1	tier1	-	no_errors	ENST00000229922	ensembl	human	known	74_37	silent	29.63	38	16	SNP	0.991	T
CARS	833	genome.wustl.edu	37	11	3062148	3062148	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:3062148C>T	ENST00000397111.5	-	3	429	c.184G>A	c.(184-186)Gca>Aca	p.A62T	CARS_ENST00000278224.9_Missense_Mutation_p.A62T|CARS_ENST00000380525.4_Missense_Mutation_p.A145T|CARS_ENST00000397114.3_Missense_Mutation_p.A52T|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000401769.3_Missense_Mutation_p.A75T			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	62					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ATGTGAGATGCGTCATAGACG	0.537			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													238.0	174.0	196.0					11																	3062148		2202	4298	6500	SO:0001583	missense	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.184G>A	11.37:g.3062148C>T	ENSP00000380300:p.Ala62Thr		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.A145T	ENST00000397111.5	37	c.433	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.185021	0.94885	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.45668	3.15;3.15;3.15;0.89;3.15	4.29	4.29	0.51040	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.119294	0.56097	D	0.000026	T	0.55955	0.1953	M	0.64997	1.995	0.80722	D	1	P;P;D;D;P;D	0.69078	0.901;0.911;0.997;0.984;0.903;0.989	P;B;P;P;B;P	0.59825	0.458;0.427;0.864;0.611;0.427;0.786	T	0.52668	-0.8545	10	0.21540	T	0.41	-22.4503	16.9537	0.86252	0.0:1.0:0.0:0.0	.	75;145;62;62;145;52	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	T	145;62;62;52;75	ENSP00000369897:A145T;ENSP00000380300:A62T;ENSP00000278224:A62T;ENSP00000380303:A52T;ENSP00000384069:A75T	ENSP00000278224:A62T	A	-	1	0	CARS	3018724	1.000000	0.71417	0.911000	0.35937	0.992000	0.81027	6.963000	0.76055	2.218000	0.71995	0.650000	0.86243	GCA	CARS	-	pfam_Cys-tRNA/MSH_ligase,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	ENSG00000110619		0.537	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	-	0.00	26	0	C	NM_001751		3062148	-1	tier1	-	no_errors	ENST00000380525	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	T
CASZ1	54897	genome.wustl.edu	37	1	10725151	10725151	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:10725151C>A	ENST00000377022.3	-	5	811	c.494G>T	c.(493-495)aGg>aTg	p.R165M	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.R165M	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	165					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGAAGCCTGCCTGGTGCTGGG	0.672																																																	0													30.0	27.0	28.0					1																	10725151		2203	4299	6502	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.494G>T	1.37:g.10725151C>A	ENSP00000366221:p.Arg165Met		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R165M	ENST00000377022.3	37	c.494	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	c	10.57	1.387468	0.25031	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	0.558	0.17266	.	1.253650	0.05264	N	0.516323	T	0.31765	0.0807	N	0.14661	0.345	0.21020	N	0.999803	P;P;P	0.52692	0.955;0.564;0.589	P;B;B	0.50440	0.641;0.393;0.24	T	0.33240	-0.9876	9	0.72032	D	0.01	-11.7093	7.9463	0.29989	0.0:0.2667:0.0:0.7333	.	189;165;165	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	M	165	.	ENSP00000339445:R165M	R	-	2	0	CASZ1	10647738	0.914000	0.31030	0.809000	0.32408	0.009000	0.06853	-0.013000	0.12678	-0.099000	0.12263	-1.560000	0.00886	AGG	CASZ1	-	NULL	ENSG00000130940		0.672	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0.00	33	0	C	NM_017766		10725151	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	missense	27.27	40	15	SNP	0.974	A
CBWD6	644019	genome.wustl.edu	37	9	69238113	69238113	+	Intron	SNP	C	C	T	rs370314741		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:69238113C>T	ENST00000377457.5	-	8	768				CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Intron	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6								ATP binding (GO:0005524)			lung(4)	4						GATTCCCTAACGTTCTTGAAG	0.338													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20322	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0				CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.662+116G>A	9.37:g.69238113C>T				RNA	SNP	-	NULL	ENST00000377457.5	37	NULL	CCDS43827.1	9																																																																																			CBWD6	-	-	ENSG00000204790		0.338	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	CBWD6	HGNC	protein_coding	OTTHUMT00000143172.2	-	0.00	195	0	C	XM_928822		69238113	-1	tier1	-	no_errors	ENST00000461834	ensembl	human	known	74_37	rna	16.33	246	48	SNP	0.001	T
CCDC110	256309	genome.wustl.edu	37	4	186380035	186380035	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:186380035A>G	ENST00000307588.3	-	6	1781	c.1706T>C	c.(1705-1707)aTa>aCa	p.I569T	CCDC110_ENST00000393540.3_Missense_Mutation_p.I532T|CCDC110_ENST00000510617.1_Missense_Mutation_p.I569T|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	569						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTCCATTTCTATACTCATTCG	0.299																																																	0													101.0	97.0	99.0					4																	186380035		2201	4292	6493	SO:0001583	missense	0			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1706T>C	4.37:g.186380035A>G	ENSP00000306776:p.Ile569Thr		Q86YI9|Q8N7W0	Missense_Mutation	SNP	superfamily_4_helix_cytokine-like_core	p.I569T	ENST00000307588.3	37	c.1706	CCDS3843.1	4	.	.	.	.	.	.	.	.	.	.	A	6.794	0.515508	0.12944	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.28895	1.59;1.59;1.59	5.85	1.78	0.24846	.	0.222840	0.32386	N	0.006169	T	0.36853	0.0982	M	0.65975	2.015	0.09310	N	1	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.56343	0.796;0.796;0.796	T	0.20974	-1.0259	10	0.14656	T	0.56	-8.2397	5.4932	0.16787	0.6614:0.0:0.0727:0.2659	.	569;532;569	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	T	532;569;569	ENSP00000377172:I532T;ENSP00000306776:I569T;ENSP00000427246:I569T	ENSP00000306776:I569T	I	-	2	0	CCDC110	186617029	0.000000	0.05858	0.559000	0.28332	0.687000	0.40016	0.423000	0.21313	0.442000	0.26555	0.533000	0.62120	ATA	CCDC110	-	NULL	ENSG00000168491		0.299	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC110	HGNC	protein_coding	OTTHUMT00000360519.2	-	0.00	83	0	A	NM_152775		186380035	-1	tier1	-	no_errors	ENST00000307588	ensembl	human	known	74_37	missense	36.36	42	24	SNP	0.158	G
CCDC130	81576	genome.wustl.edu	37	19	13873201	13873201	+	Missense_Mutation	SNP	C	C	T	rs377239448		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:13873201C>T	ENST00000586600.1	+	10	1165	c.662C>T	c.(661-663)aCg>aTg	p.T221M	CCDC130_ENST00000221554.8_Missense_Mutation_p.T221M|MRI1_ENST00000040663.6_5'Flank|CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000319545.8_5'Flank			P13994	CC130_HUMAN	coiled-coil domain containing 130	221					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GTGCCCGAGACGGAAGATGAC	0.612																																																	0								C	MET/THR	0,4406		0,0,2203	59.0	64.0	62.0		662	4.7	0.8	19		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC130	NM_030818.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	221/397	13873201	1,13005	2203	4300	6503	SO:0001583	missense	0			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.662C>T	19.37:g.13873201C>T	ENSP00000465776:p.Thr221Met		Q9BQ72	Missense_Mutation	SNP	pfam_CWC16	p.T221M	ENST00000586600.1	37	c.662	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309883	0.60414	0.0	1.16E-4	ENSG00000104957	ENST00000221554	T	0.31769	1.48	4.73	4.73	0.59995	.	0.318910	0.32655	N	0.005810	T	0.51686	0.1689	M	0.83118	2.625	0.80722	D	1	P;P	0.51933	0.949;0.949	P;P	0.58970	0.849;0.788	T	0.55970	-0.8056	10	0.54805	T	0.06	-16.0819	10.5273	0.44957	0.1934:0.8066:0.0:0.0	.	221;221	B3KUZ1;P13994	.;CC130_HUMAN	M	221	ENSP00000221554:T221M	ENSP00000221554:T221M	T	+	2	0	CCDC130	13734201	0.529000	0.26322	0.780000	0.31762	0.719000	0.41307	1.988000	0.40697	2.208000	0.71279	0.555000	0.69702	ACG	CCDC130	-	pfam_CWC16	ENSG00000104957		0.612	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	CCDC130	HGNC	protein_coding	OTTHUMT00000453216.2	-	0.00	26	0	C	NM_030818		13873201	+1	tier1	-	no_errors	ENST00000221554	ensembl	human	known	74_37	missense	38.98	36	23	SNP	0.872	T
CCDC148	130940	genome.wustl.edu	37	2	159035476	159035476	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:159035476C>T	ENST00000283233.5	-	12	1716	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Missense_Mutation_p.R477H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	468										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTCCATCAAACGCCTTTCCAA	0.388																																																	0													92.0	92.0	92.0					2																	159035476		2203	4300	6503	SO:0001583	missense	0				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1403G>A	2.37:g.159035476C>T	ENSP00000283233:p.Arg468His		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	NULL	p.R468H	ENST00000283233.5	37	c.1403	CCDS33304.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377479	0.82682	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	T;T	0.37584	1.19;1.19	5.93	5.05	0.67936	.	.	.	.	.	T	0.24084	0.0583	L	0.29908	0.895	0.80722	D	1	P;P	0.41710	0.63;0.76	B;B	0.29663	0.105;0.105	T	0.07616	-1.0763	9	0.72032	D	0.01	-5.4087	13.7277	0.62767	0.0:0.9258:0.0:0.0742	.	477;468	B8ZZV3;Q8NFR7	.;CC148_HUMAN	H	468;477	ENSP00000283233:R468H;ENSP00000386674:R477H	ENSP00000283233:R468H	R	-	2	0	CCDC148	158743722	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.997000	0.40786	1.517000	0.48917	0.655000	0.94253	CGT	CCDC148	-	NULL	ENSG00000153237		0.388	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	HGNC	protein_coding	OTTHUMT00000333270.1	-	0.00	43	0	C	NM_138803		159035476	-1	tier1	-	no_errors	ENST00000283233	ensembl	human	known	74_37	missense	28.36	48	19	SNP	1.000	T
CCDC150	284992	genome.wustl.edu	37	2	197531519	197531519	+	Frame_Shift_Del	DEL	A	A	-	rs75642251|rs376590781		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:197531519delA	ENST00000389175.4	+	7	974	c.839delA	c.(838-840)caafs	p.Q280fs	CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	280										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCCAGGAACAAAAAAAAAAA	0.373																																																	0										178,205,3109		1,0,176,1,203,1365	43.0	43.0	43.0			4.6	0.7	2		34	430,361,7013		2,0,426,2,357,3115	no	codingComplex	CCDC150	NM_001080539.1		3,0,602,3,560,4480	A1A1,A1A2,A1R,A2A2,A2R,RR		10.1358,10.9679,10.3931			197531519	608,566,10122	1807	4072	5879	SO:0001589	frameshift_variant	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.839delA	2.37:g.197531519delA	ENSP00000373827:p.Gln280fs		Q6P5U6|Q6P663|Q8N8V5	Frame_Shift_Del	DEL	NULL	p.K283fs	ENST00000389175.4	37	c.839	CCDS46478.1	2																																																																																			CCDC150	-	NULL	ENSG00000144395		0.373	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2		0.00	31	0	A	NM_001080539		197531519	+1	tier1		no_errors	ENST00000389175	ensembl	human	known	74_37	frame_shift_del	55.32	21	26	DEL	0.374	-
CCDC175	729665	genome.wustl.edu	37	14	59992099	59992100	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:59992099_59992100insT	ENST00000537690.2	-	16	1950_1951	c.1895_1896insA	c.(1894-1896)aacfs	p.N632fs	RP11-701B16.2_ENST00000554253.1_RNA|CCDC175_ENST00000281581.4_Frame_Shift_Ins_p.N632fs	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	632																	AATGATCTTTGTTTTTTTTGCT	0.307																																																	0																																										SO:0001589	frameshift_variant	0				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.1896dupA	14.37:g.59992107_59992107dupT	ENSP00000453940:p.Asn632fs		G3V5J7	Frame_Shift_Ins	INS	superfamily_Prefoldin	p.N632fs	ENST00000537690.2	37	c.1896_1895	CCDS53898.1	14																																																																																			CCDC175	-	NULL	ENSG00000151838		0.307	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC175	HGNC	protein_coding	OTTHUMT00000471273.1		0.00	63	0	-	NM_001164399		59992100	-1	tier1		no_errors	ENST00000281581	ensembl	human	known	74_37	frame_shift_ins	67.14	23	47	INS	0.000:0.000	T
ALDH6A1	4329	genome.wustl.edu	37	14	74524018	74524018	+	3'UTR	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:74524018G>A	ENST00000553458.1	-	0	5033				CCDC176_ENST00000394009.3_Intron|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000492247.2_Silent_p.S89S	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1						branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		TCCCCATGTCGCTTCTTGCTA	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.*3327C>T	14.37:g.74524018G>A			B2R609|B4DFS8|J3KNU8|Q9UKM8	Silent	SNP	NULL	p.S89	ENST00000553458.1	37	c.267	CCDS9826.1	14																																																																																			CCDC176	-	NULL	ENSG00000119636		0.373	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC176	HGNC	protein_coding	OTTHUMT00000412309.1	-	0.00	22	0	G			74524018	+1	tier1	-	no_errors	ENST00000492247	ensembl	human	putative	74_37	silent	83.33	7	35	SNP	0.000	A
CCDC18	343099	genome.wustl.edu	37	1	93667516	93667516	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:93667516delA	ENST00000343253.7	+	7	1268	c.766delA	c.(766-768)aaafs	p.K258fs	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Frame_Shift_Del_p.K258fs|CCDC18_ENST00000557479.1_Frame_Shift_Del_p.K376fs|CCDC18_ENST00000338949.4_Frame_Shift_Del_p.K57fs			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	258								p.V377fs*15(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CCAACAATATAAAAAAAAAGT	0.318																																																	1	Deletion - Frameshift(1)	ovary(1)											41.0	42.0	42.0					1																	93667516		1802	4067	5869	SO:0001589	frameshift_variant	0					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.766delA	1.37:g.93667516delA	ENSP00000343377:p.Lys258fs		Q6ZU17	Frame_Shift_Del	DEL	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.V377fs	ENST00000343253.7	37	c.1120		1																																																																																			CCDC18	-	NULL	ENSG00000122483		0.318	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1		0.00	44	0	A	NM_206886		93667516	+1	tier1		no_errors	ENST00000557479	ensembl	human	known	74_37	frame_shift_del	37.74	33	20	DEL	1.000	-
CCDC18	343099	genome.wustl.edu	37	1	93682272	93682273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:93682272_93682273insA	ENST00000343253.7	+	13	2298_2299	c.1796_1797insA	c.(1795-1800)gcaaaafs	p.AK599fs	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.AK600fs|CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.AK718fs|CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.AK399fs			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	599										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTATTGCTGCAAAAAATGCAG	0.322																																																	0																																										SO:0001589	frameshift_variant	0					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1802dupA	1.37:g.93682278_93682278dupA	ENSP00000343377:p.Ala599fs		Q6ZU17	Frame_Shift_Ins	INS	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.N720fs	ENST00000343253.7	37	c.2153_2154		1																																																																																			CCDC18	-	NULL	ENSG00000122483		0.322	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1		0.00	37	0	-	NM_206886		93682273	+1	tier1		no_errors	ENST00000557479	ensembl	human	known	74_37	frame_shift_ins	21.57	40	11	INS	1.000:1.000	A
CCDC180	100499483	genome.wustl.edu	37	9	100085126	100085126	+	Missense_Mutation	SNP	G	G	A	rs142121305		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:100085126G>A	ENST00000357054.1	+	26	2655	c.1720G>A	c.(1720-1722)Gtg>Atg	p.V574M	CCDC180_ENST00000529487.1_Missense_Mutation_p.V435M|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.V435M|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.V534M|CCDC180_ENST00000411667.2_Missense_Mutation_p.V432M			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	574						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CACCTACCACGTGGACTGCAT	0.517																																																	0								G	MET/VAL	0,4406		0,0,2203	114.0	92.0	99.0		1303	-7.2	0.1	9	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf174	NM_020893.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	435/1702	100085126	1,13005	2203	4300	6503	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1720G>A	9.37:g.100085126G>A	ENSP00000349562:p.Val574Met		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.V435M	ENST00000357054.1	37	c.1303		9	.	.	.	.	.	.	.	.	.	.	G	0.840	-0.742355	0.03088	0.0	1.16E-4	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.08	-7.17	0.01511	.	0.663946	0.15021	N	0.284976	T	0.06508	0.0167	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.28971	0.229;0.015;0.034;0.015	B;B;B;B	0.18263	0.021;0.006;0.006;0.006	T	0.21245	-1.0251	10	0.42905	T	0.14	-0.5828	11.0891	0.48104	0.2285:0.1289:0.6426:0.0	.	432;574;435;574	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	M	574;534;435;432;458;435	ENSP00000349562:V574M;ENSP00000378646:V534M;ENSP00000364348:V435M;ENSP00000414000:V432M;ENSP00000434727:V435M	ENSP00000349562:V574M	V	+	1	0	C9orf174	99124947	0.072000	0.21174	0.104000	0.21259	0.012000	0.07955	-0.999000	0.03697	-1.256000	0.02478	-1.373000	0.01185	GTG	CCDC180	-	NULL	ENSG00000197816		0.517	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	HGNC	protein_coding		-	0.00	77	0	G	NM_020893		100085126	+1	tier1	rs142121305	no_errors	ENST00000375202	ensembl	human	known	74_37	missense	26.96	84	31	SNP	0.012	A
CCDC33	80125	genome.wustl.edu	37	15	74623335	74623337	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:74623335_74623337delAGA	ENST00000398814.3	+	14	1990_1992	c.1559_1561delAGA	c.(1558-1563)gagaag>gag	p.K521del	CCDC33_ENST00000321288.5_In_Frame_Del_p.K724del|CCDC33_ENST00000558821.1_In_Frame_Del_p.K114del|CCDC33_ENST00000268082.4_In_Frame_Del_p.K114del	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	724										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AATGATCGAGAGAAGGAGCTGCT	0.606																																																	0																																										SO:0001651	inframe_deletion	0			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1559_1561delAGA	15.37:g.74623335_74623337delAGA	ENSP00000381795:p.Lys521del		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	In_Frame_Del	DEL	pfam_C2_dom,superfamily_C2_dom	p.K724in_frame_del	ENST00000398814.3	37	c.2168_2170	CCDS42058.1	15																																																																																			CCDC33	-	NULL	ENSG00000140481		0.606	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419491.2		0.00	32	0	AGA	NM_182791		74623337	+1	tier1		no_errors	ENST00000321288	ensembl	human	known	74_37	in_frame_del	62.50	12	20	DEL	1.000:1.000:1.000	-
CCDC33	80125	genome.wustl.edu	37	15	74623337	74623337	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:74623337A>G	ENST00000398814.3	+	14	1992	c.1561A>G	c.(1561-1563)Aag>Gag	p.K521E	CCDC33_ENST00000321288.5_Missense_Mutation_p.K724E|CCDC33_ENST00000558821.1_Missense_Mutation_p.K114E|CCDC33_ENST00000268082.4_Missense_Mutation_p.K114E	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	724										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGATCGAGAGAAGGAGCTGCT	0.607																																																	0													19.0	23.0	21.0					15																	74623337		1997	4171	6168	SO:0001583	missense	0			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1561A>G	15.37:g.74623337A>G	ENSP00000381795:p.Lys521Glu		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom	p.K724E	ENST00000398814.3	37	c.2170	CCDS42058.1	15	.	.	.	.	.	.	.	.	.	.	A	20.6	4.023246	0.75275	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.34859	1.34;1.96;1.54;1.51	4.95	3.75	0.43078	.	0.059114	0.64402	N	0.000005	T	0.58864	0.2152	M	0.81239	2.535	0.43480	D	0.995707	D;D;D;D	0.89917	1.0;1.0;0.997;0.998	D;D;D;D	0.87578	0.997;0.998;0.985;0.994	T	0.63853	-0.6543	10	0.72032	D	0.01	.	10.5096	0.44853	0.8375:0.1625:0.0:0.0	.	114;114;724;521	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	E	724;521;114;114	ENSP00000325012:K724E;ENSP00000381795:K521E;ENSP00000325661:K114E;ENSP00000268082:K114E	ENSP00000268082:K114E	K	+	1	0	CCDC33	72410390	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.840000	0.62817	1.859000	0.53934	0.450000	0.29827	AAG	CCDC33	-	NULL	ENSG00000140481		0.607	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419491.2		0.00	33	0	A	NM_182791		74623337	+1			no_errors	ENST00000321288	ensembl	human	known	74_37	missense	61.54	3	8	SNP	1.000	G
CCDC38	120935	genome.wustl.edu	37	12	96271999	96271999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:96271999G>T	ENST00000344280.3	-	13	1825	c.1268C>A	c.(1267-1269)tCa>tAa	p.S423*	SNRPF_ENST00000553192.1_Intron|SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	423										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGAGCATCTGAATTAAATTC	0.353																																																	0													90.0	89.0	89.0					12																	96271999		2203	4300	6503	SO:0001587	stop_gained	0			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.1268C>A	12.37:g.96271999G>T	ENSP00000345470:p.Ser423*		Q8N835	Nonsense_Mutation	SNP	NULL	p.S423*	ENST00000344280.3	37	c.1268	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520924	0.85495	.	.	ENSG00000165972	ENST00000344280	.	.	.	5.82	4.92	0.64577	.	0.376195	0.27622	N	0.018553	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0067	11.4628	0.50221	0.0835:0.0:0.9165:0.0	.	.	.	.	X	423	.	ENSP00000345470:S423X	S	-	2	0	CCDC38	94796130	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.968000	0.56809	2.756000	0.94617	0.561000	0.74099	TCA	CCDC38	-	NULL	ENSG00000165972		0.353	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1		0.00	25	0	G	NM_182496		96271999	-1			no_errors	ENST00000344280	ensembl	human	known	74_37	nonsense	11.11	24	3	SNP	1.000	T
CCDC42	146849	genome.wustl.edu	37	17	8638830	8638830	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:8638830G>A	ENST00000293845.3	-	5	818	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	198										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GCCTTGGCGCGCTCAATCTTC	0.582																																																	0													61.0	55.0	57.0					17																	8638830		2203	4300	6503	SO:0001583	missense	0			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.592C>T	17.37:g.8638830G>A	ENSP00000293845:p.Arg198Cys		Q8N6Q0	Missense_Mutation	SNP	NULL	p.R198C	ENST00000293845.3	37	c.592	CCDS11145.1	17	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355571	0.41700	.	.	ENSG00000161973	ENST00000293845	T	0.25250	1.81	5.51	4.5	0.54988	.	0.458483	0.20791	N	0.085602	T	0.25457	0.0619	L	0.48642	1.525	0.50632	D	0.999881	D	0.61697	0.99	B	0.43623	0.425	T	0.01613	-1.1312	10	0.52906	T	0.07	-3.1205	12.8844	0.58034	0.0:0.0:0.7254:0.2746	.	198	Q96M95	CCD42_HUMAN	C	198	ENSP00000293845:R198C	ENSP00000293845:R198C	R	-	1	0	CCDC42	8579555	0.930000	0.31532	0.951000	0.38953	0.430000	0.31655	2.109000	0.41863	2.868000	0.98415	0.557000	0.71058	CGC	CCDC42	-	NULL	ENSG00000161973		0.582	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42	HGNC	protein_coding	OTTHUMT00000442491.1	-	0.00	23	0	G	NM_144681		8638830	-1	tier1	-	no_errors	ENST00000293845	ensembl	human	known	74_37	missense	46.55	31	27	SNP	0.670	A
CCDC40	55036	genome.wustl.edu	37	17	78032417	78032417	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:78032417G>C	ENST00000397545.4	+	8	1311	c.1284G>C	c.(1282-1284)gaG>gaC	p.E428D	CCDC40_ENST00000269318.5_Missense_Mutation_p.E428D|CCDC40_ENST00000374877.3_Missense_Mutation_p.E428D|CCDC40_ENST00000374876.4_Missense_Mutation_p.E428D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	428					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCGAGACGGAGAGGATCCGGG	0.502																																																	0													63.0	68.0	67.0					17																	78032417		2072	4197	6269	SO:0001583	missense	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1284G>C	17.37:g.78032417G>C	ENSP00000380679:p.Glu428Asp		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.E428D	ENST00000397545.4	37	c.1284	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	G	5.677	0.309520	0.10733	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.53640	0.75;1.93;0.61;0.76	4.97	1.52	0.23074	.	.	.	.	.	T	0.43875	0.1267	L	0.48362	1.52	0.25449	N	0.988021	B;B;B	0.30146	0.27;0.251;0.238	B;B;B	0.36464	0.225;0.071;0.122	T	0.43814	-0.9368	9	0.54805	T	0.06	-21.206	9.8941	0.41306	0.0745:0.3987:0.5269:0.0	.	428;428;211	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	D	428	ENSP00000364011:E428D;ENSP00000269318:E428D;ENSP00000364010:E428D;ENSP00000380679:E428D	ENSP00000269318:E428D	E	+	3	2	CCDC40	75647012	0.937000	0.31787	0.019000	0.16419	0.030000	0.12068	0.532000	0.23067	0.441000	0.26529	-0.300000	0.09419	GAG	CCDC40	-	NULL	ENSG00000141519		0.502	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	-	0.00	24	0	G	XM_371082		78032417	+1	tier1	-	no_errors	ENST00000397545	ensembl	human	known	74_37	missense	50.00	32	32	SNP	0.502	C
CCDC7	79741	genome.wustl.edu	37	10	32761449	32761449	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:32761449G>T	ENST00000362006.5	+	8	1261	c.718G>T	c.(718-720)Gct>Tct	p.A240S	CCDC7_ENST00000535327.1_3'UTR|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000545067.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.A240S|CCDC7_ENST00000537047.1_Intron	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	240										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AAGTTGTGAAGCTCTGGCACA	0.239																																																	0													16.0	19.0	18.0					10																	32761449		2190	4284	6474	SO:0001583	missense	0			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.718G>T	10.37:g.32761449G>T	ENSP00000355078:p.Ala240Ser		Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	NULL	p.A240S	ENST00000362006.5	37	c.718	CCDS7173.1	10	.	.	.	.	.	.	.	.	.	.	G	0.206	-1.040698	0.02013	.	.	ENSG00000216937	ENST00000324147;ENST00000277657;ENST00000362006	T;T	0.30448	1.53;1.53	3.55	-4.44	0.03557	.	.	.	.	.	T	0.12347	0.0300	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38023	-0.9680	9	0.08179	T	0.78	-11.7997	6.5456	0.22404	0.2403:0.0:0.5884:0.1712	.	240	Q96M83	CCDC7_HUMAN	S	245;240;240	ENSP00000277657:A240S;ENSP00000355078:A240S	ENSP00000277657:A240S	A	+	1	0	CCDC7	32801455	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.686000	0.05161	-0.850000	0.04152	-0.484000	0.04775	GCT	CCDC7	-	NULL	ENSG00000216937		0.239	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1	-	0.00	23	0	G	NM_145023		32761449	+1	tier1	-	no_errors	ENST00000277657	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.000	T
CCDC8	83987	genome.wustl.edu	37	19	46914706	46914706	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:46914706A>G	ENST00000307522.3	-	1	2135	c.1362T>C	c.(1360-1362)gcT>gcC	p.A454A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	454					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTGAGACTTCAGCTTCCTGGA	0.617																																																	0													57.0	55.0	56.0					19																	46914706		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1362T>C	19.37:g.46914706A>G			Q8TB26	Silent	SNP	NULL	p.A454	ENST00000307522.3	37	c.1362	CCDS12685.1	19	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082831	0.36758	.	.	ENSG00000169515	ENST00000540252	.	.	.	3.7	-7.39	0.01402	.	.	.	.	.	T	0.31040	0.0784	.	.	.	0.25941	N	0.982879	.	.	.	.	.	.	T	0.34403	-0.9830	5	0.30078	T	0.28	-2.4865	10.007	0.41964	0.1669:0.1022:0.0:0.731	.	.	.	.	P	301	.	ENSP00000441180:L301P	L	-	2	0	CCDC8	51606546	0.000000	0.05858	0.001000	0.08648	0.787000	0.44495	-2.189000	0.01248	-2.139000	0.00807	0.459000	0.35465	CTG	CCDC8	-	NULL	ENSG00000169515		0.617	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC8	HGNC	protein_coding	OTTHUMT00000368598.1	-	0.00	21	0	A	NM_032040		46914706	-1	tier1	-	no_errors	ENST00000307522	ensembl	human	known	74_37	silent	17.86	46	10	SNP	0.004	G
CCDC80	151887	genome.wustl.edu	37	3	112358576	112358576	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:112358576G>A	ENST00000206423.3	-	2	1130	c.177C>T	c.(175-177)cgC>cgT	p.R59R	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Silent_p.R59R	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	59					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTCAATTCCGCGAGACCTCC	0.577																																																	0													76.0	68.0	71.0					3																	112358576		2203	4300	6503	SO:0001819	synonymous_variant	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.177C>T	3.37:g.112358576G>A			D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	NULL	p.R59	ENST00000206423.3	37	c.177	CCDS2968.1	3																																																																																			CCDC80	-	NULL	ENSG00000091986		0.577	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	-	0.00	48	0	G	NM_199511		112358576	-1	tier1	-	no_errors	ENST00000206423	ensembl	human	known	74_37	silent	35.05	63	34	SNP	0.020	A
CCDC82	79780	genome.wustl.edu	37	11	96117597	96117597	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:96117597G>A	ENST00000278520.5	-	3	743	c.315C>T	c.(313-315)aaC>aaT	p.N105N	CCDC82_ENST00000542662.1_Silent_p.N105N|CCDC82_ENST00000423339.2_Silent_p.N105N|CCDC82_ENST00000525786.1_5'Flank			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	105								p.N105N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATGTTGAACCGTTGCCAGAGT	0.338																																																	1	Substitution - coding silent(1)	endometrium(1)											194.0	185.0	188.0					11																	96117597		2201	4297	6498	SO:0001819	synonymous_variant	0			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.315C>T	11.37:g.96117597G>A			B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	NULL	p.N105	ENST00000278520.5	37	c.315	CCDS8307.1	11																																																																																			CCDC82	-	NULL	ENSG00000149231		0.338	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	-	0.00	88	0	G	NM_024725		96117597	-1	tier1	-	no_errors	ENST00000278520	ensembl	human	known	74_37	silent	41.72	88	63	SNP	0.000	A
CCDC88C	440193	genome.wustl.edu	37	14	91739502	91739503	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:91739502_91739503insG	ENST00000389857.6	-	30	5639_5640	c.5553_5554insC	c.(5551-5556)cccagcfs	p.S1852fs	CCDC88C_ENST00000331194.7_Frame_Shift_Ins_p.S376fs	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1852					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTATGGGAGCTGGGGGGTGCGG	0.698																																																	0																																										SO:0001589	frameshift_variant	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.5554dupC	14.37:g.91739508_91739508dupG	ENSP00000374507:p.Ser1852fs		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Frame_Shift_Ins	INS	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.S1851fs	ENST00000389857.6	37	c.5554_5553	CCDS45151.1	14																																																																																			CCDC88C	-	NULL	ENSG00000015133		0.698	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1		0.00	8	0	0	XM_029353		91739503	-1			no_errors	ENST00000389857	ensembl	human	known	74_37	frame_shift_ins	30.77	9	4	INS	0.035:0.000	G
CCER1	196477	genome.wustl.edu	37	12	91348469	91348469	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:91348469A>G	ENST00000358859.2	-	1	484	c.51T>C	c.(49-51)ggT>ggC	p.G17G	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	17	Poly-Gly.																cgccgccgccaccgccgccCA	0.647																																																	0													8.0	6.0	7.0					12																	91348469		2014	4058	6072	SO:0001819	synonymous_variant	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.51T>C	12.37:g.91348469A>G			Q8TC47	Silent	SNP	NULL	p.G17	ENST00000358859.2	37	c.51	CCDS9036.1	12																																																																																			CCER1	-	NULL	ENSG00000197651		0.647	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2	-	0.00	25	0	A	NM_152638		91348469	-1	tier1	-	no_errors	ENST00000358859	ensembl	human	known	74_37	silent	21.57	40	11	SNP	0.537	G
CCL14	6358	genome.wustl.edu	37	17	34311431	34311431	+	Missense_Mutation	SNP	C	C	T	rs144903710		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:34311431C>T	ENST00000394509.4	-	2	245	c.137G>A	c.(136-138)cGt>cAt	p.R46H	CCL14_ENST00000586216.1_Missense_Mutation_p.R46H|CCL15-CCL14_ENST00000481427.2_3'UTR|CTB-186H2.3_ENST00000591669.1_5'Flank|CCL16_ENST00000293275.3_5'Flank|CCL14_ENST00000536149.1_Missense_Mutation_p.R62H|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000435911.2_Missense_Mutation_p.R62H|CCL14_ENST00000480944.2_Missense_Mutation_p.R68H			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	46					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AATCCGCTGACGCGGGATCTT	0.557																																																	0								C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	96.0	101.0		185,137	-5.3	0.0	17	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	CCL14	NM_032962.4,NM_032963.3	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	62/110,46/94	34311431	3,13003	2203	4300	6503	SO:0001583	missense	0			Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"""Chemokine ligands"", ""Endogenous ligands"""	10612	protein-coding gene	gene with protein product		601392	"""small inducible cytokine subfamily A (Cys-Cys), member 14"""	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.137G>A	17.37:g.34311431C>T	ENSP00000378017:p.Arg46His		E1P649|E1P650|Q13954	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R62H	ENST00000394509.4	37	c.185	CCDS32624.1	17	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638542	0.29157	2.27E-4	2.33E-4	ENSG00000213494	ENST00000394509;ENST00000536149;ENST00000435911	T;T;T	0.05258	3.47;3.47;3.47	5.14	-5.26	0.02772	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.848521	0.09515	U	0.791691	T	0.02193	0.0068	.	.	.	0.09310	N	1	B;B	0.26708	0.157;0.13	B;B	0.21546	0.035;0.021	T	0.46898	-0.9158	9	0.15499	T	0.54	.	0.5549	0.00669	0.3991:0.1816:0.1251:0.2941	.	46;62	Q16627;Q16627-2	CCL14_HUMAN;.	H	46;62;62	ENSP00000378017:R46H;ENSP00000441771:R62H;ENSP00000409197:R62H	ENSP00000378017:R46H	R	-	2	0	CCL14	31335544	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.707000	0.01893	-0.659000	0.05359	0.563000	0.77884	CGT	CCL14	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000213494		0.557	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL14	HGNC	protein_coding	OTTHUMT00000272892.2	-	0.00	49	0	C	NM_032962		34311431	-1	tier1	rs144903710	no_errors	ENST00000435911	ensembl	human	known	74_37	missense	53.95	35	41	SNP	0.000	T
CCL20	6364	genome.wustl.edu	37	2	228680154	228680154	+	Intron	DEL	T	T	-	rs34834265		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:228680154delT	ENST00000358813.4	+	2	134				CCL20_ENST00000409189.3_Intron|CCL20_ENST00000473642.1_3'UTR			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20						cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TACCTTTCACTTTTTTTTTTT	0.363																																																	0													49.0	57.0	55.0					2																	228680154		2201	4300	6501	SO:0001627	intron_variant	0			D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"""Chemokine ligands"", ""Endogenous ligands"""	10619	protein-coding gene	gene with protein product		601960	"""small inducible cytokine subfamily A (Cys-Cys), member 20"""	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.77-16T>-	2.37:g.228680154delT			Q53S51|Q99664	RNA	DEL	-	NULL	ENST00000358813.4	37	NULL	CCDS2469.1	2																																																																																			CCL20	-	-	ENSG00000115009		0.363	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCL20	HGNC	protein_coding	OTTHUMT00000331641.1		0.00	14	0	T	NM_004591		228680154	+1	tier1		no_errors	ENST00000473642	ensembl	human	known	74_37	rna	28.57	15	6	DEL	0.010	-
CCNA1	8900	genome.wustl.edu	37	13	37014167	37014167	+	Silent	SNP	C	C	A	rs150999500	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:37014167C>A	ENST00000255465.4	+	6	1209	c.945C>A	c.(943-945)acC>acA	p.T315T	CCNA1_ENST00000440264.1_Silent_p.T271T|CCNA1_ENST00000449823.1_Silent_p.T271T|CCNA1_ENST00000418263.1_Silent_p.T314T			P78396	CCNA1_HUMAN	cyclin A1	315					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.T315T(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTATATCACCGATGATACAT	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											107.0	103.0	105.0					13																	37014167		2203	4300	6503	SO:0001819	synonymous_variant	0			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.945C>A	13.37:g.37014167C>A			B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.T315	ENST00000255465.4	37	c.945	CCDS9357.1	13																																																																																			CCNA1	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000133101		0.383	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	HGNC	protein_coding	OTTHUMT00000044514.2		0.00	41	0	C	NM_003914		37014167	+1			no_errors	ENST00000255465	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.000	A
CCNC	892	genome.wustl.edu	37	6	100006296	100006296	+	Intron	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:100006296delA	ENST00000520429.1	-	5	792				CCNC_ENST00000523985.1_Intron|CCNC_ENST00000369220.4_Intron|CCNC_ENST00000520371.1_Intron|CCNC_ENST00000523799.1_Intron|CCNC_ENST00000518714.1_Intron|CCNC_ENST00000521017.1_Intron|CCNC_ENST00000482541.2_Frame_Shift_Del_p.F141fs	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C						gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		CTCATAAACTAAAAAAAAAAA	0.299																																					GBM(57;273 1020 40094 44454 49348)												0																																										SO:0001627	intron_variant	0				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.346+76T>-	6.37:g.100006296delA			B4DPZ1|Q9H543	Frame_Shift_Del	DEL	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.F141fs	ENST00000520429.1	37	c.423	CCDS34502.1	6																																																																																			CCNC	-	superfamily_Cyclin-like	ENSG00000112237		0.299	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCNC	HGNC	protein_coding	OTTHUMT00000041613.2		0.00	25	0	A	NM_005190		100006296	-1	tier1		no_errors	ENST00000482541	ensembl	human	putative	74_37	frame_shift_del	31.82	15	7	DEL	0.007	-
CCNT1	904	genome.wustl.edu	37	12	49087795	49087795	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:49087795G>A	ENST00000261900.3	-	9	1424	c.1202C>T	c.(1201-1203)gCt>gTt	p.A401V		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	401					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CTTCTGGGCAGCCAATTCTTC	0.443																																																	0													202.0	210.0	208.0					12																	49087795		2203	4300	6503	SO:0001583	missense	0			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1202C>T	12.37:g.49087795G>A	ENSP00000261900:p.Ala401Val		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A401V	ENST00000261900.3	37	c.1202	CCDS8766.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043513	0.75732	.	.	ENSG00000129315	ENST00000261900	T	0.23552	1.9	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.06373	-1.0830	10	0.28530	T	0.3	-14.249	18.0305	0.89282	0.0:0.0:1.0:0.0	.	401	O60563	CCNT1_HUMAN	V	401	ENSP00000261900:A401V	ENSP00000261900:A401V	A	-	2	0	CCNT1	47374062	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.607000	0.98328	2.634000	0.89283	0.561000	0.74099	GCT	CCNT1	-	NULL	ENSG00000129315		0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT1	HGNC	protein_coding	OTTHUMT00000408853.1	-	0.00	62	0	G	NM_001240		49087795	-1	tier1	-	no_errors	ENST00000261900	ensembl	human	known	74_37	missense	21.54	51	14	SNP	1.000	A
CCR3	1232	genome.wustl.edu	37	3	46307343	46307343	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:46307343delA	ENST00000357422.2	+	4	1237	c.694delA	c.(694-696)aaafs	p.K234fs	CCR3_ENST00000541018.1_Frame_Shift_Del_p.K234fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.K234fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.K255fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.K234fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	234					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTGCCCCAGTAAAAAAAAGTA	0.468																																																	0													71.0	70.0	71.0					3																	46307343		2203	4300	6503	SO:0001589	frameshift_variant	0			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.694delA	3.37:g.46307343delA	ENSP00000350003:p.Lys234fs		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1	p.K255fs	ENST00000357422.2	37	c.757	CCDS2738.1	3																																																																																			CCR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR3,prints_Chemokine_CCR1	ENSG00000183625		0.468	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	HGNC	protein_coding	OTTHUMT00000257380.2		0.00	25	0	A			46307343	+1	tier1		no_errors	ENST00000545097	ensembl	human	known	74_37	frame_shift_del	66.67	6	12	DEL	0.000	-
CCSER1	401145	genome.wustl.edu	37	4	91701607	91701607	+	Intron	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:91701607G>T	ENST00000509176.1	+	8	2298				CCSER1_ENST00000432775.2_Missense_Mutation_p.R675S|CCSER1_ENST00000333691.8_Intron|CCSER1_ENST00000504150.1_3'UTR	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1																		CATACCCTAGGGAATTCTGAA	0.348																																																	0													57.0	54.0	55.0					4																	91701607		1819	4074	5893	SO:0001627	intron_variant	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2011-35306G>T	4.37:g.91701607G>T			Q4W5M0|Q86V57	Missense_Mutation	SNP	NULL	p.R675S	ENST00000509176.1	37	c.2025	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	G	7.224	0.597904	0.13939	.	.	ENSG00000184305	ENST00000432775	T	0.43688	0.94	2.64	1.78	0.24846	.	.	.	.	.	T	0.29882	0.0747	.	.	.	0.18873	N	0.999987	B	0.18166	0.026	B	0.19391	0.025	T	0.27905	-1.0060	8	0.66056	D	0.02	.	5.6531	0.17627	0.1581:0.0:0.8419:0.0	.	675	Q9C0I3-2	.	S	675	ENSP00000389283:R675S	ENSP00000389283:R675S	R	+	3	2	FAM190A	91920630	0.005000	0.15991	0.197000	0.23402	0.183000	0.23260	0.093000	0.15086	0.668000	0.31126	0.585000	0.79938	AGG	CCSER1	-	NULL	ENSG00000184305		0.348	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	HGNC	protein_coding	OTTHUMT00000363109.3	-	0.00	37	0	G	NM_001145065		91701607	+1	tier1	-	no_errors	ENST00000432775	ensembl	human	known	74_37	missense	50.00	7	7	SNP	0.264	T
CCT7	10574	genome.wustl.edu	37	2	73477474	73477474	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:73477474A>G	ENST00000258091.5	+	10	1252	c.1111A>G	c.(1111-1113)Acc>Gcc	p.T371A	CCT7_ENST00000539919.1_Missense_Mutation_p.T327A|CCT7_ENST00000537131.1_Missense_Mutation_p.T271A|CCT7_ENST00000540468.1_Missense_Mutation_p.T284A|CCT7_ENST00000398422.2_Missense_Mutation_p.T167A|CCT7_ENST00000538797.1_Missense_Mutation_p.T243A	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	371					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CAAGACATGCACCTTCATTCT	0.517																																																	0													132.0	144.0	140.0					2																	73477474		2059	4200	6259	SO:0001583	missense	0			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.1111A>G	2.37:g.73477474A>G	ENSP00000258091:p.Thr371Ala		A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta	p.T371A	ENST00000258091.5	37	c.1111	CCDS46336.1	2	.	.	.	.	.	.	.	.	.	.	A	25.4	4.635521	0.87760	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.92753	0.7696	H	0.96861	3.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.87578	0.975;0.962;0.961;0.998;0.998;0.998	D	0.94776	0.7949	10	0.87932	D	0	-29.3851	13.5762	0.61875	1.0:0.0:0.0:0.0	.	284;243;271;329;167;371	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	A	284;327;371;167;271;243;329	ENSP00000442058:T284A;ENSP00000437824:T327A;ENSP00000258091:T371A;ENSP00000381456:T167A;ENSP00000444379:T271A;ENSP00000438462:T243A	ENSP00000258091:T371A	T	+	1	0	CCT7	73330982	1.000000	0.71417	0.942000	0.38095	0.923000	0.55619	9.105000	0.94246	2.149000	0.67028	0.482000	0.46254	ACC	CCT7	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_eta	ENSG00000135624		0.517	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT7	HGNC	protein_coding	OTTHUMT00000327714.2	-	0.00	49	0	A			73477474	+1	tier1	-	no_errors	ENST00000258091	ensembl	human	known	74_37	missense	43.40	60	46	SNP	1.000	G
CCT7	10574	genome.wustl.edu	37	2	73478542	73478542	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:73478542G>A	ENST00000258091.5	+	11	1533	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L	CCT7_ENST00000539919.1_Silent_p.L420L|CCT7_ENST00000537131.1_Silent_p.L364L|CCT7_ENST00000540468.1_Silent_p.L377L|CCT7_ENST00000398422.2_Silent_p.L260L|CCT7_ENST00000538797.1_Silent_p.L336L	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	464					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TCAACAAGCTGCGGGCTCGGC	0.552																																																	0													63.0	62.0	63.0					2																	73478542		1913	4111	6024	SO:0001819	synonymous_variant	0			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.1392G>A	2.37:g.73478542G>A			A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta	p.L464	ENST00000258091.5	37	c.1392	CCDS46336.1	2																																																																																			CCT7	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_eta	ENSG00000135624		0.552	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT7	HGNC	protein_coding	OTTHUMT00000327714.2	-	0.00	30	0	G			73478542	+1	tier1	-	no_errors	ENST00000258091	ensembl	human	known	74_37	silent	37.50	60	36	SNP	1.000	A
CD163	9332	genome.wustl.edu	37	12	7635292	7635292	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:7635292delA	ENST00000359156.4	-	14	3396	c.3194delT	c.(3193-3195)ttcfs	p.F1065fs	CD163_ENST00000541972.1_Frame_Shift_Del_p.F1053fs|CD163_ENST00000432237.2_Frame_Shift_Del_p.F1065fs|CD163_ENST00000396620.3_Frame_Shift_Del_p.F1098fs|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1065					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TAATGCGACGAAAATGGCCAA	0.423																																																	0													130.0	137.0	135.0					12																	7635292		2203	4300	6503	SO:0001589	frameshift_variant	0			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3194delT	12.37:g.7635292delA	ENSP00000352071:p.Phe1065fs		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Frame_Shift_Del	DEL	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.F1065fs	ENST00000359156.4	37	c.3194	CCDS8578.1	12																																																																																			CD163	-	NULL	ENSG00000177575		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2		0.00	31	0	A	NM_004244, NM_203416		7635292	-1	tier1		no_errors	ENST00000359156	ensembl	human	known	74_37	frame_shift_del	24.53	40	13	DEL	0.030	-
CD1A	909	genome.wustl.edu	37	1	158226752	158226752	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:158226752T>C	ENST00000289429.5	+	4	1314	c.781T>C	c.(781-783)Tat>Cat	p.Y261H		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	261	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGGGACATGGTATCTCCGCGC	0.622																																																	0													104.0	94.0	98.0					1																	158226752		2203	4300	6503	SO:0001583	missense	0			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.781T>C	1.37:g.158226752T>C	ENSP00000289429:p.Tyr261His		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y261H	ENST00000289429.5	37	c.781	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948654	0.53186	.	.	ENSG00000158477	ENST00000289429	T	0.14144	2.53	3.84	3.84	0.44239	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.198179	0.25347	N	0.031336	T	0.17577	0.0422	M	0.79805	2.47	0.27216	N	0.959786	P	0.48834	0.916	P	0.54590	0.756	T	0.02226	-1.1192	10	0.72032	D	0.01	-6.297	9.2021	0.37265	0.0:0.0:0.0:1.0	.	261	P06126	CD1A_HUMAN	H	261	ENSP00000289429:Y261H	ENSP00000289429:Y261H	Y	+	1	0	CD1A	156493376	0.980000	0.34600	0.997000	0.53966	0.367000	0.29736	0.966000	0.29331	1.737000	0.51674	0.402000	0.26972	TAT	CD1A	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000158477		0.622	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2	-	0.00	52	0	T	NM_001763		158226752	+1	tier1	-	no_errors	ENST00000289429	ensembl	human	known	74_37	missense	24.68	58	19	SNP	0.997	C
CD200R1	131450	genome.wustl.edu	37	3	112693701	112693701	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:112693701G>T	ENST00000471858.1	-	1	236	c.4C>A	c.(4-6)Ctc>Atc	p.L2I	CD200R1_ENST00000308611.3_Missense_Mutation_p.L2I|CD200R1_ENST00000440122.2_Missense_Mutation_p.L2I|CD200R1_ENST00000490004.1_Missense_Mutation_p.L2I|CD200R1_ENST00000295863.4_Missense_Mutation_p.L2I	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	2					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CAAGGGCAGAGCATTTCTGTT	0.458																																																	0													205.0	177.0	186.0					3																	112693701		2203	4300	6503	SO:0001583	missense	0			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.4C>A	3.37:g.112693701G>T	ENSP00000418928:p.Leu2Ile		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like_dom	p.L2I	ENST00000471858.1	37	c.4	CCDS2970.1	3	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396354	0.62177	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.29397	2.16;2.17;1.63;1.57;1.76	5.66	1.01	0.19927	.	2.258330	0.02188	N	0.061070	T	0.30759	0.0775	L	0.43152	1.355	0.09310	N	0.999998	B;P;P;P;P	0.47962	0.267;0.822;0.903;0.728;0.822	B;B;P;B;B	0.46275	0.035;0.248;0.51;0.126;0.248	T	0.12041	-1.0563	10	0.33141	T	0.24	.	3.5124	0.07713	0.0864:0.2838:0.4421:0.1877	.	2;2;2;2;2	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	I	2	ENSP00000418928:L2I;ENSP00000311035:L2I;ENSP00000295863:L2I;ENSP00000405733:L2I;ENSP00000418801:L2I	ENSP00000295863:L2I	L	-	1	0	CD200R1	114176391	0.586000	0.26782	0.674000	0.29902	0.996000	0.88848	0.591000	0.23969	0.375000	0.24679	0.655000	0.94253	CTC	CD200R1	-	NULL	ENSG00000163606		0.458	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200R1	HGNC	protein_coding	OTTHUMT00000354467.1	-	0.00	18	0	G	NM_138806		112693701	-1	tier1	-	no_errors	ENST00000308611	ensembl	human	known	74_37	missense	29.79	33	14	SNP	0.266	T
CD22	933	genome.wustl.edu	37	19	35828664	35828664	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:35828664C>T	ENST00000085219.5	+	5	791	c.725C>T	c.(724-726)cCg>cTg	p.P242L	CD22_ENST00000536635.2_Missense_Mutation_p.P242L|CD22_ENST00000341773.6_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.P70L|CD22_ENST00000594250.1_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.P242L|CD22_ENST00000270311.6_Missense_Mutation_p.P122L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	242	Ig-like C2-type 2.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCAGACACCCCGAAGTTGGAG	0.597																																					Ovarian(42;1009 1133 23674 26041)												0													42.0	38.0	40.0					19																	35828664		2203	4300	6503	SO:0001583	missense	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.725C>T	19.37:g.35828664C>T	ENSP00000085219:p.Pro242Leu		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P242L	ENST00000085219.5	37	c.725	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456216	0.63401	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000544992;ENST00000270311;ENST00000419549	D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44	4.87	4.87	0.63330	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000110	D	0.98065	0.9362	M	0.76002	2.32	0.41111	D	0.985742	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.99032	1.0821	10	0.87932	D	0	.	13.5142	0.61530	0.0:1.0:0.0:0.0	.	70;242;242;242	Q32M46;F5GYU4;F5H7U3;P20273	.;.;.;CD22_HUMAN	L	242;242;242;122;70	ENSP00000085219:P242L;ENSP00000442279:P242L;ENSP00000441237:P242L;ENSP00000270311:P122L;ENSP00000403822:P70L	ENSP00000085219:P242L	P	+	2	0	CD22	40520504	0.889000	0.30405	0.158000	0.22627	0.010000	0.07245	3.735000	0.55044	2.258000	0.74832	0.467000	0.42956	CCG	CD22	-	pfscan_Ig-like_dom	ENSG00000012124		0.597	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	-	0.00	17	0	C	NM_001771		35828664	+1	tier1	-	no_errors	ENST00000085219	ensembl	human	known	74_37	missense	63.64	4	7	SNP	0.520	T
CD34	947	genome.wustl.edu	37	1	208063101	208063102	+	Intron	DEL	AA	AA	-	rs3043874|rs397861623	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:208063101_208063102delAA	ENST00000310833.7	-	5	919				CD34_ENST00000367036.3_Frame_Shift_Del_p.S28fs|CD34_ENST00000356522.4_Intron|CD34_ENST00000485761.1_Intron|CD34_ENST00000537704.1_Intron	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule						cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ATTCCAACAGAAAAAAAAAAAA	0.371																																																	0									,	988,105,21,411,2147		152,32,1,70,581,12,0,4,45,2,2,14,48,239,634					,	-2.9	0.0		dbSNP_102	24	3549,564,20,298,3157		701,364,8,56,1719,40,1,2,117,0,0,11,25,190,560	no	intron,intron	CD34	NM_001773.2,NM_001025109.1	,	853,396,9,126,2300,52,1,6,162,2,2,25,73,429,1194	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		53.2288,41.5305,52.8952	,	,		4537,669,41,709,5304				SO:0001627	intron_variant	0			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.598-135TT>-	1.37:g.208063111_208063112delAA			A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Frame_Shift_Del	DEL	pfam_CD34/Podocalyxin,prints_CD34	p.S28fs	ENST00000310833.7	37	c.82_81	CCDS31011.1	1																																																																																			CD34	-	NULL	ENSG00000174059		0.371	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	HGNC	protein_coding	OTTHUMT00000088933.1		0.00	16	0	AA	NM_001773		208063102	-1	tier1		no_errors	ENST00000367036	ensembl	human	known	74_37	frame_shift_del	20.00	20	5	DEL	0.000:0.000	-
CDC16	8881	genome.wustl.edu	37	13	115012591	115012591	+	Intron	DEL	T	T	-	rs5807004		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:115012591delT	ENST00000356221.3	+	11	1079				CDC16_ENST00000375312.3_Intron|CDC16_ENST00000360383.3_Intron|CDC16_ENST00000375308.1_Intron|CDC16_ENST00000252457.5_Intron|MIR548AR_ENST00000582191.1_RNA|CDC16_ENST00000252458.6_Intron|CDC16_ENST00000375310.1_Intron			Q13042	CDC16_HUMAN	cell division cycle 16						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AGAATAAATGttttttttttt	0.353																																																	0																																										SO:0001627	intron_variant	0			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.971+112T>-	13.37:g.115012591delT			A2A365|Q5T8C8|Q96AE6|Q9Y564	RNA	DEL	-	NULL	ENST00000356221.3	37	NULL	CCDS9542.2	13																																																																																			CDC16	-	-	ENSG00000130177		0.353	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC16	HGNC	protein_coding	OTTHUMT00000276737.1		0.00	11	0	T	NM_003903		115012591	+1	tier1		no_errors	ENST00000494581	ensembl	human	known	74_37	rna	33.33	14	7	DEL	0.004	-
CDC40	51362	genome.wustl.edu	37	6	110530394	110530394	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:110530394G>T	ENST00000368932.1	+	6	699	c.598G>T	c.(598-600)Gtg>Ttg	p.V200L	CDC40_ENST00000368930.1_Missense_Mutation_p.V200L|CDC40_ENST00000307731.1_Missense_Mutation_p.V200L			O60508	PRP17_HUMAN	cell division cycle 40	200					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		GGCAAAATATGTGGATGAAAA	0.328																																																	0													109.0	108.0	108.0					6																	110530394		2203	4299	6502	SO:0001583	missense	0			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.598G>T	6.37:g.110530394G>T	ENSP00000357928:p.Val200Leu		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V200L	ENST00000368932.1	37	c.598	CCDS5081.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.24|13.24	2.179442|2.179442	0.38511|0.38511	.|.	.|.	ENSG00000168438|ENSG00000168438	ENST00000431461|ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	.|T;T;T;T	.|0.60920	.|0.29;0.15;0.15;0.29	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.312422	.|0.34700	.|N	.|0.003751	T|T	0.34978|0.34978	0.0916|0.0916	L|L	0.39898|0.39898	1.24|1.24	0.44515|0.44515	D|D	0.997467|0.997467	.|B	.|0.15930	.|0.015	.|B	.|0.18263	.|0.021	T|T	0.18085|0.18085	-1.0348|-1.0348	5|10	.|0.38643	.|T	.|0.18	-12.343|-12.343	13.0532|13.0532	0.58966|0.58966	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	.|200	.|O60508	.|PRP17_HUMAN	F|L	92|200	.|ENSP00000357928:V200L;ENSP00000357929:V200L;ENSP00000357926:V200L;ENSP00000304370:V200L	.|ENSP00000304370:V200L	C|V	+|+	2|1	0|0	CDC40|CDC40	110637087|110637087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.111000|5.111000	0.64628|0.64628	2.687000|2.687000	0.91594|0.91594	0.557000|0.557000	0.71058|0.71058	TGT|GTG	CDC40	-	NULL	ENSG00000168438		0.328	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	HGNC	protein_coding	OTTHUMT00000041791.1	-	0.00	45	0	G	NM_015891		110530394	+1	tier1	-	no_errors	ENST00000307731	ensembl	human	known	74_37	missense	13.04	40	6	SNP	1.000	T
CDH11	1009	genome.wustl.edu	37	16	64984778	64984778	+	Missense_Mutation	SNP	C	C	T	rs374274441		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:64984778C>T	ENST00000268603.4	-	12	2401	c.1786G>A	c.(1786-1788)Gac>Aac	p.D596N	CDH11_ENST00000394156.3_Missense_Mutation_p.D596N|CDH11_ENST00000566827.1_Missense_Mutation_p.D470N	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	596	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCGTTCACGTCGCACCCGCAG	0.607			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													114.0	88.0	97.0					16																	64984778		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1786G>A	16.37:g.64984778C>T	ENSP00000268603:p.Asp596Asn		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D596N	ENST00000268603.4	37	c.1786	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375782	0.82682	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.57595	0.39;0.5	5.81	5.81	0.92471	Cadherin (2);	0.128642	0.64402	D	0.000001	T	0.32763	0.0840	N	0.16903	0.455	0.58432	D	0.999999	P;B	0.37061	0.58;0.004	B;B	0.26094	0.066;0.002	T	0.26326	-1.0106	10	0.51188	T	0.08	.	12.3875	0.55340	0.0:0.9239:0.0:0.0761	.	596;596	P55287-2;P55287	.;CAD11_HUMAN	N	596;596;579	ENSP00000268603:D596N;ENSP00000377711:D596N	ENSP00000268603:D596N	D	-	1	0	CDH11	63542279	1.000000	0.71417	0.959000	0.39883	0.995000	0.86356	4.931000	0.63469	2.746000	0.94184	0.655000	0.94253	GAC	CDH11	-	smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.607	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0.00	25	0	C	NM_033664		64984778	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	27.52	79	30	SNP	1.000	T
CDH11	1009	genome.wustl.edu	37	16	64984913	64984913	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:64984913C>T	ENST00000268603.4	-	12	2266	c.1651G>A	c.(1651-1653)Gca>Aca	p.A551T	CDH11_ENST00000394156.3_Missense_Mutation_p.A551T|CDH11_ENST00000566827.1_Missense_Mutation_p.A425T	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	551	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TACACGCCTGCTGTGTTATCT	0.587			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													43.0	43.0	43.0					16																	64984913		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1651G>A	16.37:g.64984913C>T	ENSP00000268603:p.Ala551Thr		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A551T	ENST00000268603.4	37	c.1651	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344466	0.82022	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.55760	2.44;0.5	5.55	5.55	0.83447	Cadherin (3);Cadherin-like (1);	0.099517	0.64402	D	0.000001	T	0.81202	0.4773	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;0.975	D;P	0.87578	0.998;0.77	D	0.86348	0.1709	10	0.87932	D	0	.	18.497	0.90869	0.0:1.0:0.0:0.0	.	551;551	P55287-2;P55287	.;CAD11_HUMAN	T	551;551;534	ENSP00000268603:A551T;ENSP00000377711:A551T	ENSP00000268603:A551T	A	-	1	0	CDH11	63542414	1.000000	0.71417	0.140000	0.22221	0.011000	0.07611	7.727000	0.84838	2.594000	0.87642	0.655000	0.94253	GCA	CDH11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.587	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0.00	27	0	C	NM_033664		64984913	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	14.67	64	11	SNP	1.000	T
CDH26	60437	genome.wustl.edu	37	20	58587784	58587784	+	Intron	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:58587784delA	ENST00000244047.5	+	15	2483				CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Stop_Codon_Del|CDH26_ENST00000244049.3_Stop_Codon_Del|CDH26_ENST00000348616.4_Stop_Codon_Del			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.*833fs?(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTTCCTTCCTAAAAAAAAAAG	0.393																																																	1	Deletion - Frameshift(1)	ovary(1)							,	355,66,3841		7,1,340,0,65,1718	39.0	41.0	40.0		,	-1.5	0.0	20		43	31,134,8089		0,0,31,0,134,3962	no	codingComplex,codingComplex	CDH26	NM_177980.2,NM_021810.4	,	7,1,371,0,199,5680	A1A1,A1A2,A1R,A2A2,A2R,RR		1.999,9.878,4.682	,	,	58587784	386,200,11930	2203	4300	6503	SO:0001627	intron_variant	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5942A>-	20.37:g.58587784delA			A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Frame_Shift_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.*833fs	ENST00000244047.5	37	c.2498		20																																																																																			CDH26	-	NULL	ENSG00000124215		0.393	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding			0.00	23	0	A	NM_177980		58587784	+1	tier1		no_errors	ENST00000348616	ensembl	human	known	74_37	frame_shift_del	48.84	22	21	DEL	0.000	-
CDK12	51755	genome.wustl.edu	37	17	37667792	37667795	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	ACAA	ACAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:37667792_37667795delACAA	ENST00000447079.4	+	8	2710_2713	c.2677_2680delACAA	c.(2677-2682)acaaacfs	p.TN893fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.TN893fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	893	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCGCCCTTACACAAACAAAGTCAT	0.397			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0																																										SO:0001589	frameshift_variant	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2677_2680delACAA	17.37:g.37667796_37667799delACAA	ENSP00000398880:p.Thr893fs		A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	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.N894fs	ENST00000447079.4	37	c.2677_2680	CCDS11337.1	17																																																																																			CDK12	-	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	ENSG00000167258		0.397	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4		0.00	32	0	ACAA	NM_016507		37667795	+1	tier1		no_errors	ENST00000447079	ensembl	human	known	74_37	frame_shift_del	35.48	20	11	DEL	1.000:1.000:1.000:1.000	-
CDK19	23097	genome.wustl.edu	37	6	110953273	110953273	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:110953273T>C	ENST00000368911.3	-	6	785	c.606A>G	c.(604-606)ccA>ccG	p.P202P	CDK19_ENST00000323817.3_Silent_p.P142P|CDK19_ENST00000413605.2_Silent_p.P78P	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GCAAAAGTTCTGGAGCCCGAT	0.368																																																	0													95.0	92.0	93.0					6																	110953273		2203	4300	6503	SO:0001819	synonymous_variant	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.606A>G	6.37:g.110953273T>C			Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P202	ENST00000368911.3	37	c.606	CCDS5085.1	6																																																																																			CDK19	-	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	ENSG00000155111		0.368	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	-	0.00	40	0	T	NM_015076		110953273	-1	tier1	-	no_errors	ENST00000368911	ensembl	human	known	74_37	silent	34.04	31	16	SNP	1.000	C
CDK19	23097	genome.wustl.edu	37	6	110988756	110988756	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:110988756C>T	ENST00000368911.3	-	4	516	c.337G>A	c.(337-339)Gca>Aca	p.A113T	CDK19_ENST00000323817.3_Missense_Mutation_p.A53T	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GCTTTTGATGCACGGTGAAAC	0.303																																																	0													72.0	71.0	71.0					6																	110988756		2203	4300	6503	SO:0001583	missense	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.337G>A	6.37:g.110988756C>T	ENSP00000357907:p.Ala113Thr		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	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.A113T	ENST00000368911.3	37	c.337	CCDS5085.1	6	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874605	0.51695	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000457688	T;T;T	0.64085	0.04;-0.07;-0.08	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.162241	0.53938	D	0.000043	T	0.33847	0.0877	N	0.20401	0.57	0.80722	D	1	B	0.20368	0.044	B	0.21360	0.034	T	0.20371	-1.0277	10	0.18276	T	0.48	-19.7349	18.9567	0.92661	0.0:1.0:0.0:0.0	.	113	Q9BWU1	CDK19_HUMAN	T	113;53;52;53	ENSP00000357907:A113T;ENSP00000317665:A53T;ENSP00000415621:A53T	ENSP00000317665:A53T	A	-	1	0	CDK19	111095449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.487000	0.83934	0.551000	0.68910	GCA	CDK19	-	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	ENSG00000155111		0.303	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	-	0.00	17	0	C	NM_015076		110988756	-1	tier1	-	no_errors	ENST00000368911	ensembl	human	known	74_37	missense	50.00	11	11	SNP	1.000	T
CDK20	23552	genome.wustl.edu	37	9	90582463	90582463	+	Frame_Shift_Del	DEL	G	G	-	rs151084868	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:90582463delG	ENST00000325303.8	-	8	1260	c.955delC	c.(955-957)cacfs	p.H319fs	CDK20_ENST00000375871.4_3'UTR|CDK20_ENST00000375883.3_Frame_Shift_Del_p.H298fs|CDK20_ENST00000336654.5_Frame_Shift_Del_p.H311fs|CDK20_ENST00000605159.1_3'UTR	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	319					cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.H319fs*4(1)		skin(1)	1						TCATGGATGTGGGGGGGCCCT	0.622																																																	1	Insertion - Frameshift(1)	large_intestine(1)							,,,,	22,4150		9,4,2073	37.0	34.0	35.0		,,,,	3.6	0.0	9	dbSNP_130	36	45,8015		10,25,3995	no	frameshift,frameshift,utr-3,utr-3,frameshift	CDK20	NM_178432.3,NM_012119.4,NM_001170640.1,NM_001170639.1,NM_001039803.2	,,,,	19,29,6068	A1A1,A1R,RR		0.5583,0.5273,0.5477	,,,,	,,,,	90582463	67,12165	2174	4238	6412	SO:0001589	frameshift_variant	0			AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.955delC	9.37:g.90582463delG	ENSP00000322343:p.His319fs		A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Frame_Shift_Del	DEL	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.H319fs	ENST00000325303.8	37	c.955	CCDS35060.1	9																																																																																			CDK20	-	superfamily_Kinase-like_dom	ENSG00000156345		0.622	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK20	HGNC	protein_coding	OTTHUMT00000214996.1		0.00	26	0	G	NM_012119		90582463	-1	tier1		no_errors	ENST00000325303	ensembl	human	known	74_37	frame_shift_del	35.71	18	10	DEL	0.178	-
CDK8	1024	genome.wustl.edu	37	13	26978124	26978124	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:26978124C>A	ENST00000381527.3	+	13	1804	c.1301C>A	c.(1300-1302)cCt>cAt	p.P434H	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	434					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TATCCCAACCCTGGACCAAGC	0.527																																																	0													294.0	246.0	263.0					13																	26978124		2203	4300	6503	SO:0001583	missense	0			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.1301C>A	13.37:g.26978124C>A	ENSP00000370938:p.Pro434His		Q5VUF3|Q6ISB5	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.P434H	ENST00000381527.3	37	c.1301	CCDS9317.1	13	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882408	0.72294	.	.	ENSG00000132964	ENST00000381527	T	0.68331	-0.32	5.54	5.54	0.83059	.	0.045969	0.85682	D	0.000000	T	0.55273	0.1910	N	0.08118	0	0.80722	D	1	P;P	0.52316	0.925;0.952	P;P	0.45610	0.487;0.472	T	0.64931	-0.6291	10	0.62326	D	0.03	-4.3342	19.4585	0.94906	0.0:1.0:0.0:0.0	.	433;434	P49336-2;P49336	.;CDK8_HUMAN	H	434	ENSP00000370938:P434H	ENSP00000370938:P434H	P	+	2	0	CDK8	25876124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.172000	0.77604	2.605000	0.88082	0.591000	0.81541	CCT	CDK8	-	NULL	ENSG00000132964		0.527	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK8	HGNC	protein_coding	OTTHUMT00000044250.1	-	0.00	27	0	C			26978124	+1	tier1	-	no_errors	ENST00000381527	ensembl	human	known	74_37	missense	40.54	22	15	SNP	1.000	A
CDS2	8760	genome.wustl.edu	37	20	5170988	5170990	+	3'UTR	DEL	TTT	TTT	-	rs11477708		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:5170988_5170990delTTT	ENST00000460006.1	+	0	1753_1755				CDS2_ENST00000379062.4_3'UTR|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2						CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ACTCACTGTCTTTTTTTTTTTTT	0.409																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.*110TTT>-	20.37:g.5170997_5170999delTTT			B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	RNA	DEL	-	NULL	ENST00000460006.1	37	NULL	CCDS13088.1	20																																																																																			CDS2	-	-	ENSG00000101290		0.409	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS2	HGNC	protein_coding	OTTHUMT00000077858.2		0.00	34	0	TTT			5170990	+1	tier1		no_errors	ENST00000379070	ensembl	human	known	74_37	rna	21.92	57	16	DEL	0.003:0.004:0.004	-
CELSR1	9620	genome.wustl.edu	37	22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:46931227delC	ENST00000262738.3	-	1	1840	c.1841delG	c.(1840-1842)ggcfs	p.G615fs	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Frame_Shift_Del_p.G615fs	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	615	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCGCTGCCGCCCCCCAGAAA	0.657																																																	0													24.0	26.0	25.0					22																	46931227		2203	4296	6499	SO:0001589	frameshift_variant	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1841delG	22.37:g.46931227delC	ENSP00000262738:p.Gly615fs		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.G614fs	ENST00000262738.3	37	c.1841	CCDS14076.1	22																																																																																			CELSR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000075275		0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1		0.00	26	0	C	NM_014246		46931227	-1	tier1		no_errors	ENST00000262738	ensembl	human	known	74_37	frame_shift_del	39.76	50	33	DEL	0.000	-
CELSR2	1952	genome.wustl.edu	37	1	109811737	109811737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:109811737delC	ENST00000271332.3	+	20	6698	c.6637delC	c.(6637-6639)cccfs	p.P2214fs		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2214					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCAGAGACGCCCCCCGTGGT	0.682																																					NSCLC(158;1285 2011 34800 34852 42084)												0													16.0	19.0	18.0					1																	109811737		2201	4296	6497	SO:0001589	frameshift_variant	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6637delC	1.37:g.109811737delC	ENSP00000271332:p.Pro2214fs		Q5T2Y7|Q92566	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V2215fs	ENST00000271332.3	37	c.6637	CCDS796.1	1																																																																																			CELSR2	-	pfam_DUF3497	ENSG00000143126		0.682	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0.00	19	0	C	NM_001408		109811737	+1	tier1		no_errors	ENST00000271332	ensembl	human	known	74_37	frame_shift_del	35.42	31	17	DEL	0.004	-
CENPE	1062	genome.wustl.edu	37	4	104115550	104115550	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:104115550G>A	ENST00000265148.3	-	7	697	c.608C>T	c.(607-609)tCt>tTt	p.S203F	CENPE_ENST00000380026.3_Missense_Mutation_p.S203F	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	203	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GATGGTATGAGAACGACTGCT	0.323																																																	0													103.0	106.0	105.0					4																	104115550		2203	4299	6502	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.608C>T	4.37:g.104115550G>A	ENSP00000265148:p.Ser203Phe		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S203F	ENST00000265148.3	37	c.608	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134355	0.77662	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705;ENST00000514974	D;D;D;T	0.88124	-2.34;-2.34;-2.34;1.58	5.24	4.38	0.52667	Kinesin, motor domain (5);	.	.	.	.	D	0.96756	0.8941	H	0.99668	4.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98799	1.0739	9	0.87932	D	0	.	16.1281	0.81408	0.0:0.1339:0.8661:0.0	.	203;203	Q02224-3;Q02224	.;CENPE_HUMAN	F	203;203;203;203;163	ENSP00000265148:S203F;ENSP00000369365:S203F;ENSP00000423981:S203F;ENSP00000426023:S163F	ENSP00000265148:S203F	S	-	2	0	CENPE	104334999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.834000	0.92094	1.312000	0.45043	0.591000	0.81541	TCT	CENPE	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000138778		0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		-	0.00	38	0	G			104115550	-1	tier1	-	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	72.22	5	13	SNP	1.000	A
CEP170	9859	genome.wustl.edu	37	1	243288182	243288183	+	3'UTR	DEL	TT	TT	-	rs572223491		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:243288182_243288183delTT	ENST00000366542.1	-	0	6374_6375				CEP170_ENST00000366544.1_3'UTR|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000366543.1_3'UTR	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa							centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTCATTTACCTTTTTTTTTTTG	0.252																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.*1569AA>-	1.37:g.243288190_243288191delTT			O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	RNA	DEL	-	NULL	ENST00000366542.1	37	NULL	CCDS44339.1	1																																																																																			CEP170	-	-	ENSG00000143702		0.252	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2		0.00	29	0	TT	NM_014812		243288183	-1	tier1		no_errors	ENST00000468254	ensembl	human	known	74_37	rna	42.86	12	9	DEL	0.001:0.014	-
CEP170B	283638	genome.wustl.edu	37	14	105353130	105353130	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105353130C>T	ENST00000414716.3	+	12	2782	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	CEP170B_ENST00000418279.1_Missense_Mutation_p.R782W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R782W|CEP170B_ENST00000453495.1_Missense_Mutation_p.R853W	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	852						cytoplasm (GO:0005737)|microtubule (GO:0005874)											ACGGCCTGGACGGTCCCCAGA	0.677																																																	0													30.0	39.0	36.0					14																	105353130		2019	4152	6171	SO:0001583	missense	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2554C>T	14.37:g.105353130C>T	ENSP00000404151:p.Arg852Trp		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R853W	ENST00000414716.3	37	c.2557	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608331	0.28623	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.63	1.74	0.24563	.	1.482120	0.04313	N	0.349313	T	0.43523	0.1251	L	0.44542	1.39	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.997	P;P;P	0.50708	0.635;0.549;0.648	T	0.17776	-1.0358	10	0.72032	D	0.01	-5.4196	2.8546	0.05568	0.1463:0.5513:0.1419:0.1605	.	852;852;782	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	W	782;852;853;782	ENSP00000451249:R782W;ENSP00000404151:R852W;ENSP00000407238:R853W;ENSP00000415006:R782W	ENSP00000404151:R852W	R	+	1	2	KIAA0284	104424175	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.031000	0.13710	0.056000	0.16144	0.462000	0.41574	CGG	CEP170B	-	NULL	ENSG00000099814		0.677	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	HGNC	protein_coding	OTTHUMT00000410289.2	-	0.00	24	0	C	NM_001112726		105353130	+1	tier1	-	no_errors	ENST00000453495	ensembl	human	known	74_37	missense	23.73	44	14	SNP	0.001	T
CEP85L	387119	genome.wustl.edu	37	6	118887391	118887391	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:118887391G>A	ENST00000368491.3	-	3	942	c.321C>T	c.(319-321)tcC>tcT	p.S107S	CEP85L_ENST00000392500.3_Silent_p.S110S|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000368488.5_Silent_p.S110S|CEP85L_ENST00000419517.2_Silent_p.S107S|CEP85L_ENST00000360290.3_Silent_p.S5S	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	107						centrosome (GO:0005813)|cytoplasm (GO:0005737)											TTGAAGCGCTGGAATTAGACG	0.428																																																	0													63.0	62.0	62.0					6																	118887391		2203	4300	6503	SO:0001819	synonymous_variant	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.321C>T	6.37:g.118887391G>A			A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	NULL	p.S110	ENST00000368491.3	37	c.330	CCDS43498.1	6																																																																																			CEP85L	-	NULL	ENSG00000111860		0.428	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	-	0.00	39	0	G	NM_001042475		118887391	-1	tier1	-	no_errors	ENST00000368488	ensembl	human	known	74_37	silent	38.10	26	16	SNP	1.000	A
CFI	3426	genome.wustl.edu	37	4	110670692	110670692	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:110670692C>T	ENST00000394634.2	-	9	1214	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	CFI_ENST00000394635.3_Missense_Mutation_p.R344Q|CFI_ENST00000512148.1_Missense_Mutation_p.R329Q	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	336					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCGTTTCCTTCGAATGTGCAT	0.388																																																	0													143.0	133.0	136.0					4																	110670692		2203	4300	6503	SO:0001583	missense	0			J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1007G>A	4.37:g.110670692C>T	ENSP00000378130:p.Arg336Gln		O60442	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.R336Q	ENST00000394634.2	37	c.1007	CCDS34049.1	4	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493512	0.64186	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000540104;ENST00000512148;ENST00000536228	D;D;D	0.92911	-3.13;-3.13;-3.13	5.59	5.59	0.84812	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.85682	D	0.000000	D	0.95066	0.8402	L	0.55213	1.73	0.51233	D	0.999914	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.966;0.999	D	0.95178	0.8296	10	0.66056	D	0.02	-21.4629	17.8252	0.88662	0.0:1.0:0.0:0.0	.	344;329;336	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	Q	344;336;336;329;318	ENSP00000378131:R344Q;ENSP00000378130:R336Q;ENSP00000427438:R329Q	ENSP00000378130:R336Q	R	-	2	0	CFI	110890141	1.000000	0.71417	0.768000	0.31515	0.010000	0.07245	5.063000	0.64332	2.633000	0.89246	0.558000	0.71614	CGA	CFI	-	superfamily_Trypsin-like_Pept_dom	ENSG00000205403		0.388	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	CFI	HGNC	protein_coding		-	0.00	24	0	C	NM_000204		110670692	-1	tier1	-	no_errors	ENST00000394634	ensembl	human	known	74_37	missense	36.67	19	11	SNP	0.999	T
CHD1L	9557	genome.wustl.edu	37	1	146757121	146757123	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:146757121_146757123delGAG	ENST00000369258.4	+	17	1995_1997	c.1975_1977delGAG	c.(1975-1977)gagdel	p.E660del	CHD1L_ENST00000361293.5_In_Frame_Del_p.E379del|CHD1L_ENST00000369259.3_In_Frame_Del_p.E456del|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_In_Frame_Del_p.E566del	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	660					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GAGACTCATAGAGGAGAAGAAGA	0.473																																																	0																																										SO:0001651	inframe_deletion	0			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1975_1977delGAG	1.37:g.146757124_146757126delGAG	ENSP00000358262:p.Glu660del		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	In_Frame_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E660in_frame_del	ENST00000369258.4	37	c.1975_1977	CCDS927.1	1																																																																																			CHD1L	-	NULL	ENSG00000131778		0.473	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1L	HGNC	protein_coding	OTTHUMT00000040377.1		0.00	14	0	GAG	NM_004284		146757123	+1	tier1		no_errors	ENST00000369258	ensembl	human	known	74_37	in_frame_del	20.00	16	4	DEL	0.998:1.000:0.999	-
CHD3	1107	genome.wustl.edu	37	17	7798765	7798765	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:7798765delC	ENST00000330494.7	+	10	1762	c.1612delC	c.(1612-1614)cccfs	p.P539fs	CHD3_ENST00000358181.4_Frame_Shift_Del_p.P539fs|CHD3_ENST00000380358.4_Frame_Shift_Del_p.P598fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	539	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGATGTCCCACCCCCCCGTCC	0.577																																																	0													130.0	103.0	112.0					17																	7798765		2203	4300	6503	SO:0001589	frameshift_variant	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1612delC	17.37:g.7798765delC	ENSP00000332628:p.Pro539fs		D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Del	DEL	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R540fs	ENST00000330494.7	37	c.1612	CCDS32554.1	17																																																																																			CHD3	-	superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000170004		0.577	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1		0.00	33	0	C	NM_001005273		7798765	+1			no_errors	ENST00000330494	ensembl	human	known	74_37	frame_shift_del	9.46	67	7	DEL	0.007	0
CHRDL2	25884	genome.wustl.edu	37	11	74415621	74415621	+	Missense_Mutation	SNP	C	C	T	rs200667288		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:74415621C>T	ENST00000376332.3	-	7	1157	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	CHRDL2_ENST00000263671.5_Missense_Mutation_p.A221T|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	221					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTCAGAGGGGCGCTGAGGCCA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		14246	0.0		0.0	False		,,,				2504	0.001																0													54.0	53.0	53.0					11																	74415621		2200	4293	6493	SO:0001583	missense	0			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.661G>A	11.37:g.74415621C>T	ENSP00000365510:p.Ala221Thr		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.A221T	ENST00000376332.3	37	c.661		11	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596523	0.46318	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	T;T;T	0.63096	0.91;0.91;-0.02	5.39	-1.16	0.09678	.	0.391849	0.29021	N	0.013399	T	0.42494	0.1205	L	0.46157	1.445	0.26284	N	0.97823	B;B;P	0.36438	0.043;0.287;0.553	B;B;B	0.30401	0.012;0.054;0.115	T	0.34601	-0.9822	10	0.17832	T	0.49	-6.1376	6.6995	0.23217	0.357:0.4718:0.1712:0.0	.	221;221;221	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	T	221;221;107;105;221	ENSP00000263671:A221T;ENSP00000365510:A221T;ENSP00000431380:A221T	ENSP00000263671:A221T	A	-	1	0	CHRDL2	74093269	0.955000	0.32602	0.994000	0.49952	0.911000	0.54048	0.164000	0.16542	-0.222000	0.09958	0.462000	0.41574	GCC	CHRDL2	-	NULL	ENSG00000054938		0.577	CHRDL2-002	KNOWN	basic	protein_coding	CHRDL2	HGNC	protein_coding	OTTHUMT00000385391.1	-	0.00	26	0	C			74415621	-1	tier1	rs200667288	no_errors	ENST00000263671	ensembl	human	known	74_37	missense	35.82	43	24	SNP	0.997	T
CHRND	1144	genome.wustl.edu	37	2	233393037	233393037	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:233393037delC	ENST00000258385.3	+	4	341	c.309delC	c.(307-309)ctcfs	p.L103fs	CHRND_ENST00000536614.1_Frame_Shift_Del_p.L103fs|CHRND_ENST00000457943.2_Frame_Shift_Del_p.S13fs|CHRND_ENST00000543200.1_Frame_Shift_Del_p.L88fs	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	103					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	TCCTGCGCCTCCCCCCGGACA	0.567																																																	0													118.0	115.0	116.0					2																	233393037		2203	4300	6503	SO:0001589	frameshift_variant	0			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.309delC	2.37:g.233393037delC	ENSP00000258385:p.Leu103fs		A8K661|B4DT92|Q52LH4	Frame_Shift_Del	DEL	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P105fs	ENST00000258385.3	37	c.309	CCDS2494.1	2																																																																																			CHRND	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000135902		0.567	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	HGNC	protein_coding	OTTHUMT00000257038.2		0.00	20	0	C			233393037	+1	tier1		no_errors	ENST00000258385	ensembl	human	known	74_37	frame_shift_del	25.00	39	13	DEL	1.000	-
CHST1	8534	genome.wustl.edu	37	11	45671131	45671131	+	3'UTR	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:45671131C>T	ENST00000308064.2	-	0	2013				RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'UTR	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1						carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGGAAGGACACGAAGATGAGG	0.567																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.*107G>A	11.37:g.45671131C>T			D3DQP2	RNA	SNP	-	NULL	ENST00000308064.2	37	NULL	CCDS7913.1	11																																																																																			CHST1	-	-	ENSG00000175264		0.567	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	HGNC	protein_coding	OTTHUMT00000390127.1	-	0.00	38	0	C	NM_003654		45671131	-1	tier1	-	no_errors	ENST00000533673	ensembl	human	known	74_37	rna	15.38	44	8	SNP	0.988	T
CIDEA	1149	genome.wustl.edu	37	18	12277160	12277160	+	Missense_Mutation	SNP	C	C	T	rs374773954		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:12277160C>T	ENST00000320477.9	+	5	616	c.551C>T	c.(550-552)aCg>aTg	p.T184M	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	184					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GCCCAGGTGACGGGACAGTTT	0.582																																																	0								C	MET/THR	0,4406		0,0,2203	104.0	89.0	94.0		551	4.9	0.6	18		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	CIDEA	NM_001279.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	184/220	12277160	1,13005	2203	4300	6503	SO:0001583	missense	0			AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.551C>T	18.37:g.12277160C>T	ENSP00000320209:p.Thr184Met		B0YIY7|Q6UPR7	Missense_Mutation	SNP	pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.T184M	ENST00000320477.9	37	c.551	CCDS11856.1	18	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123889	0.37533	0.0	1.16E-4	ENSG00000176194	ENST00000320477	T	0.80909	-1.43	4.87	4.87	0.63330	.	0.061993	0.64402	D	0.000007	D	0.89114	0.6623	M	0.83223	2.63	0.45366	D	0.998353	D;D	0.89917	1.0;1.0	D;P	0.67725	0.953;0.886	D	0.90480	0.4459	10	0.66056	D	0.02	-14.9227	13.5318	0.61625	0.0:1.0:0.0:0.0	.	218;184	Q8N5P9;O60543	.;CIDEA_HUMAN	M	184	ENSP00000320209:T184M	ENSP00000320209:T184M	T	+	2	0	CIDEA	12267160	0.973000	0.33851	0.647000	0.29507	0.015000	0.08874	4.195000	0.58400	2.234000	0.73211	0.462000	0.41574	ACG	CIDEA	-	NULL	ENSG00000176194		0.582	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CIDEA	HGNC	protein_coding	OTTHUMT00000254599.2	-	0.00	43	0	C	NM_001279		12277160	+1	tier1	-	no_errors	ENST00000320477	ensembl	human	known	74_37	missense	41.75	60	43	SNP	0.798	T
PCGF2	7703	genome.wustl.edu	37	17	36891208	36891208	+	3'UTR	DEL	A	A	-	rs1060338	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:36891208delA	ENST00000580830.1	-	0	2004				CISD3_ENST00000439660.2_3'UTR|CISD3_ENST00000578573.1_3'UTR|PCGF2_ENST00000581345.1_3'UTR|PCGF2_ENST00000360797.2_3'UTR			P35227	PCGF2_HUMAN	polycomb group ring finger 2						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)					GACCCCCCCCAAAAAAAATGA	0.418											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001624	3_prime_UTR_variant	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.*268T>-	17.37:g.36891208delA		866	A6NGD8	RNA	DEL	-	NULL	ENST00000580830.1	37	NULL	CCDS32638.1	17																																																																																			CISD3	-	-	ENSG00000230055		0.418	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD3	HGNC	protein_coding	OTTHUMT00000442246.2		0.00	35	0	A	NM_007144		36891208	+1	tier1		no_errors	ENST00000578573	ensembl	human	known	74_37	rna	36.00	32	18	DEL	0.038	-
CLASP1	23332	genome.wustl.edu	37	2	122125240	122125240	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:122125240T>C	ENST00000263710.4	-	35	4199	c.3810A>G	c.(3808-3810)tcA>tcG	p.S1270S	CLASP1_ENST00000541377.1_Silent_p.S1209S|CLASP1_ENST00000455322.2_Silent_p.S1226S|CLASP1_ENST00000545861.1_Silent_p.S977S|CLASP1_ENST00000397587.3_Silent_p.S1210S|CLASP1_ENST00000409078.3_Silent_p.S1203S|CLASP1_ENST00000541859.1_Silent_p.S987S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1270	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGATGGCATCTGAGTAGGGGT	0.582																																																	0													143.0	146.0	145.0					2																	122125240		2062	4190	6252	SO:0001819	synonymous_variant	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3810A>G	2.37:g.122125240T>C			B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S1270	ENST00000263710.4	37	c.3810		2																																																																																			CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.582	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		-	0.00	66	0	T	NM_015282		122125240	-1	tier1	-	no_errors	ENST00000263710	ensembl	human	known	74_37	silent	32.31	88	42	SNP	0.000	C
CLCN7	1186	genome.wustl.edu	37	16	1497455	1497455	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:1497455C>T	ENST00000382745.4	-	23	2793	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	CLCN7_ENST00000262318.8_Missense_Mutation_p.E706K|CCDC154_ENST00000409671.1_5'Flank|CCDC154_ENST00000389176.3_5'Flank|LA16c-390E6.5_ENST00000566287.1_RNA|CLCN7_ENST00000448525.1_Missense_Mutation_p.E706K	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	730					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CACTCCCGCTCGTCCTGGGAC	0.667																																																	0													56.0	36.0	43.0					16																	1497455		2147	4237	6384	SO:0001583	missense	0			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.2188G>A	16.37:g.1497455C>T	ENSP00000372193:p.Glu730Lys		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.E730K	ENST00000382745.4	37	c.2188	CCDS32361.1	16	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761764	0.89932	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.88277	-2.36;-2.36	4.91	3.96	0.45880	.	0.045985	0.85682	N	0.000000	D	0.90123	0.6914	L	0.34521	1.04	0.80722	D	1	P;P;D;D	0.89917	0.812;0.807;1.0;1.0	B;B;D;D	0.80764	0.153;0.18;0.994;0.984	D	0.88914	0.3361	10	0.41790	T	0.15	-44.0774	12.1128	0.53848	0.0:0.9147:0.0:0.0853	.	706;706;730;179	A8K7X1;E9PDB9;P51798;B3KUD9	.;.;CLCN7_HUMAN;.	K	706;683;730;672	ENSP00000410907:E706K;ENSP00000372193:E730K	ENSP00000262318:E683K	E	-	1	0	CLCN7	1437456	1.000000	0.71417	0.980000	0.43619	0.820000	0.46376	7.732000	0.84908	1.052000	0.40392	-0.291000	0.09656	GAG	CLCN7	-	NULL	ENSG00000103249		0.667	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	-	0.00	35	0	C	NM_001287		1497455	-1	tier1	-	no_errors	ENST00000382745	ensembl	human	known	74_37	missense	27.27	56	21	SNP	1.000	T
CLCNKB	1188	genome.wustl.edu	37	1	16375608	16375608	+	Intron	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:16375608delC	ENST00000375679.4	+	8	766				CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.P49fs	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|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)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATCAGTGTCGCCCCCAGGCGT	0.617																																																	0													84.0	85.0	85.0					1																	16375608		2203	4300	6503	SO:0001627	intron_variant	0			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.656-7C>-	1.37:g.16375608delC			B3KUY3|Q5T5Q7|Q5T5Q8	Frame_Shift_Del	DEL	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated	p.P49fs	ENST00000375679.4	37	c.142	CCDS168.1	1																																																																																			CLCNKB	-	NULL	ENSG00000184908		0.617	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCNKB	HGNC	protein_coding	OTTHUMT00000026331.1		0.00	60	0	C	NM_000085		16375608	+1	tier1		no_errors	ENST00000375667	ensembl	human	known	74_37	frame_shift_del	66.67	24	48	DEL	0.851	-
CLEC16A	23274	genome.wustl.edu	37	16	11272324	11272324	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:11272324C>T	ENST00000409790.1	+	24	3169	c.2939C>T	c.(2938-2940)tCc>tTc	p.S980F	CLEC16A_ENST00000381822.2_Missense_Mutation_p.S67F	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCAGCCTGTCCCCCAGCCTC	0.627																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											63.0	78.0	73.0					16																	11272324		2159	4247	6406	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2939C>T	16.37:g.11272324C>T	ENSP00000387122:p.Ser980Phe			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.S980F	ENST00000409790.1	37	c.2939	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001978	0.54254	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.52295	0.67	4.49	3.53	0.40419	.	0.131039	0.52532	D	0.000074	T	0.48960	0.1529	N	0.14661	0.345	0.33876	D	0.635509	D;B	0.76494	0.999;0.38	D;B	0.68943	0.961;0.229	T	0.64483	-0.6397	10	0.87932	D	0	-15.1249	12.3965	0.55389	0.0:0.8311:0.1689:0.0	.	67;980	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	F	980;980;67	ENSP00000387122:S980F	ENSP00000371244:S67F	S	+	2	0	CLEC16A	11179825	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.904000	0.56325	1.006000	0.39211	0.655000	0.94253	TCC	CLEC16A	-	NULL	ENSG00000038532		0.627	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	-	0.00	19	0	C	NM_015226		11272324	+1	tier1	-	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	20.69	46	12	SNP	1.000	T
CLEC19A	728276	genome.wustl.edu	37	16	19309988	19309988	+	Intron	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:19309988delC	ENST00000465414.1	+	2	161				CLEC19A_ENST00000493231.1_Intron			Q6UXS0	CL19A_HUMAN	C-type lectin domain family 19, member A							extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)										TTCCTTTCTGCCCCCAGCCCT	0.468																																																	0																																										SO:0001627	intron_variant	0					16p12.3	2013-01-07			ENSG00000261210	ENSG00000261210		"""C-type lectin domain containing"""	34522	protein-coding gene	gene with protein product							Standard	NM_001256720		Approved		uc031qvg.1	Q6UXS0	OTTHUMG00000177218	ENST00000465414.1:c.89-7C>-	16.37:g.19309988delC			Q0VF32	Frame_Shift_Del	DEL	NULL	p.S37fs	ENST00000465414.1	37	c.104		16																																																																																			CLEC19A	-	NULL	ENSG00000261210		0.468	CLEC19A-001	KNOWN	basic|appris_principal	protein_coding	CLEC19A	HGNC	protein_coding	OTTHUMT00000254277.2		0.00	22	0	C	NM_00125672		19309988	+1	tier1		no_errors	ENST00000476906	ensembl	human	known	74_37	frame_shift_del	27.69	47	18	DEL	0.988	-
CLEC9A	283420	genome.wustl.edu	37	12	10205421	10205422	+	Intron	DEL	TT	TT	-	rs375899502		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:10205421_10205422delTT	ENST00000355819.1	+	4	704				CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A						positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AGAGTTCATGTTTTTTTTTTTT	0.381														16	0.00319489	0.0053	0.0	5008	,	,		19644	0.002		0.005	False		,,,				2504	0.002																0																																										SO:0001627	intron_variant	0				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.91+44TT>-	12.37:g.10205431_10205432delTT			B0ZBM2	RNA	DEL	-	NULL	ENST00000355819.1	37	NULL	CCDS8611.1	12																																																																																			CLEC9A	-	-	ENSG00000197992		0.381	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CLEC9A	HGNC	protein_coding	OTTHUMT00000399564.1		0.00	19	0	TT	NM_207345		10205422	+1	tier1		no_errors	ENST00000544751	ensembl	human	known	74_37	rna	24.14	22	7	DEL	0.000:0.000	-
CLECL1	160365	genome.wustl.edu	37	12	9875256	9875256	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:9875256T>C	ENST00000327839.3	-	2	504	c.470A>G	c.(469-471)cAa>cGa	p.Q157R		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	157	C-type lectin; atypical.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						AGTAATGTCTTGAATCACCAT	0.378																																																	0													167.0	156.0	160.0					12																	9875256		2203	4300	6503	SO:0001583	missense	0			AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"""dendritic cell associated lectin 1"""	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.470A>G	12.37:g.9875256T>C	ENSP00000331766:p.Gln157Arg			Missense_Mutation	SNP	superfamily_C-type_lectin_fold	p.Q157R	ENST00000327839.3	37	c.470	CCDS8603.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.54|10.54	1.377725|1.377725	0.24944|0.24944	.|.	.|.	ENSG00000184293|ENSG00000184293	ENST00000542530|ENST00000540988;ENST00000327839	.|T	.|0.16897	.|2.31	3.15|3.15	-1.16|-1.16	0.09678|0.09678	.|C-type lectin fold (1);C-type lectin-like (1);	.|.	.|.	.|.	.|.	T|T	0.09468|0.09468	0.0233|0.0233	N|N	0.21373|0.21373	0.66|0.66	0.09310|0.09310	N|N	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.16289	.|0.015	T|T	0.39375|0.39375	-0.9617|-0.9617	5|8	.|.	.|.	.|.	.|.	6.4191|6.4191	0.21734|0.21734	0.0:0.4304:0.0:0.5696|0.0:0.4304:0.0:0.5696	.|.	.|157	.|Q8IZS7	.|CLCL1_HUMAN	E|R	109|1;157	.|ENSP00000331766:Q157R	.|.	K|Q	-|-	1|2	0|0	CLECL1|CLECL1	9766523|9766523	0.207000|0.207000	0.23482|0.23482	0.016000|0.016000	0.15963|0.15963	0.708000|0.708000	0.40852|0.40852	-0.587000|-0.587000	0.05780|0.05780	-0.347000|-0.347000	0.08299|0.08299	0.486000|0.486000	0.48141|0.48141	AAG|CAA	CLECL1	-	superfamily_C-type_lectin_fold	ENSG00000184293		0.378	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLECL1	HGNC	protein_coding	OTTHUMT00000399815.1	-	0.00	50	0	T	NM_172004		9875256	-1	tier1	-	no_errors	ENST00000327839	ensembl	human	known	74_37	missense	28.30	38	15	SNP	0.072	C
CLIC5	53405	genome.wustl.edu	37	6	45870934	45870934	+	Missense_Mutation	SNP	C	C	T	rs372300556		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:45870934C>T	ENST00000185206.6	-	6	1276	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	CLIC5_ENST00000339561.6_Missense_Mutation_p.R216Q	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	375	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTTGAGGTACCGCCACAGGCC	0.537																																																	0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	129.0	99.0	109.0		1124,647	5.6	1.0	6		109	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CLIC5	NM_001114086.1,NM_016929.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	375/411,216/252	45870934	1,13005	2203	4300	6503	SO:0001583	missense	0			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.1124G>A	6.37:g.45870934C>T	ENSP00000185206:p.Arg375Gln		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.R375Q	ENST00000185206.6	37	c.1124	CCDS47438.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.220362	0.95139	0.0	1.16E-4	ENSG00000112782	ENST00000185206;ENST00000339561	D;D	0.95001	-3.58;-3.32	5.59	5.59	0.84812	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	M	0.81179	2.53	0.80722	D	1	P;P	0.51933	0.949;0.867	B;B	0.36666	0.23;0.197	D	0.93723	0.7034	10	0.62326	D	0.03	.	19.9643	0.97261	0.0:1.0:0.0:0.0	.	375;216	Q9NZA1;Q53G01	CLIC5_HUMAN;.	Q	375;216	ENSP00000185206:R375Q;ENSP00000344165:R216Q	ENSP00000185206:R375Q	R	-	2	0	CLIC5	45978912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.090000	0.57693	2.790000	0.95986	0.637000	0.83480	CGG	CLIC5	-	superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel	ENSG00000112782		0.537	CLIC5-002	KNOWN	basic|CCDS	protein_coding	CLIC5	HGNC	protein_coding	OTTHUMT00000040761.1	-	0.00	35	0	C			45870934	-1	tier1	-	no_errors	ENST00000185206	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	T
CLIP2	7461	genome.wustl.edu	37	7	73770923	73770923	+	Silent	SNP	C	C	T	rs199730295		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:73770923C>T	ENST00000395060.1	+	4	987	c.987C>T	c.(985-987)tcC>tcT	p.S329S	CLIP2_ENST00000223398.6_Silent_p.S329S|CLIP2_ENST00000361545.5_Silent_p.S329S			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	329	Ser-rich.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGCCTCCTCCGTGGGGGGTC	0.627																																																	0													35.0	31.0	32.0					7																	73770923		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.987C>T	7.37:g.73770923C>T			O14527|O43611	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.S329	ENST00000395060.1	37	c.987	CCDS5569.1	7																																																																																			CLIP2	-	superfamily_CAP-Gly_domain	ENSG00000106665		0.627	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	-	0.00	35	0	C	NM_003388		73770923	+1	tier1	rs199730295	no_errors	ENST00000223398	ensembl	human	known	74_37	silent	33.33	42	21	SNP	0.192	T
CLSTN1	22883	genome.wustl.edu	37	1	9795218	9795219	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:9795218_9795219insC	ENST00000377298.4	-	14	2689_2690	c.1897_1898insG	c.(1897-1899)gccfs	p.A633fs	CLSTN1_ENST00000361311.4_Frame_Shift_Ins_p.A623fs|CLSTN1_ENST00000377288.3_Frame_Shift_Ins_p.A614fs|CLSTN1_ENST00000477264.1_5'Flank	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	633					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AATGCAGGTGGCCTCGTTAAAA	0.579																																																	0																																										SO:0001589	frameshift_variant	0			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1898dupG	1.37:g.9795220_9795220dupC	ENSP00000366513:p.Ala633fs		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Frame_Shift_Ins	INS	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A633fs	ENST00000377298.4	37	c.1898_1897	CCDS30580.1	1																																																																																			CLSTN1	-	NULL	ENSG00000171603		0.579	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1		0.00	39	0	-			9795219	-1	tier1		no_errors	ENST00000377298	ensembl	human	known	74_37	frame_shift_ins	17.07	34	7	INS	0.989:1.000	C
CNBD2	140894	genome.wustl.edu	37	20	34568534	34568534	+	Missense_Mutation	SNP	C	C	T	rs146293825	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:34568534C>T	ENST00000373973.3	+	4	570	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	CNBD2_ENST00000538900.1_Missense_Mutation_p.R133C|CNBD2_ENST00000349339.1_Missense_Mutation_p.R133C			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	133																	CAAAGTCATGCGCTTTGAACG	0.587													C|||	4	0.000798722	0.003	0.0	5008	,	,		20744	0.0		0.0	False		,,,				2504	0.0																0								C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	63.0	54.0	57.0		397,397	5.3	1.0	20	dbSNP_134	57	0,8600		0,0,4300	yes	missense,missense	C20orf152	NM_001207076.1,NM_080834.2	180,180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	133/424,133/573	34568534	2,13004	2203	4300	6503	SO:0001583	missense	0			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.397C>T	20.37:g.34568534C>T	ENSP00000363084:p.Arg133Cys		Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R133C	ENST00000373973.3	37	c.397		20	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925216	0.52759	4.54E-4	0.0	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	D;D;D	0.84944	-1.92;-1.92;-1.92	5.35	5.35	0.76521	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.163363	0.44097	D	0.000496	D	0.85146	0.5630	M	0.66939	2.045	0.51233	D	0.999912	D;D	0.58970	0.979;0.984	B;P	0.47941	0.288;0.562	D	0.85435	0.1151	10	0.49607	T	0.09	-17.2267	10.0763	0.42362	0.0:0.9094:0.0:0.0906	.	133;133	Q96M20;Q96M20-2	CT152_HUMAN;.	C	133	ENSP00000363084:R133C;ENSP00000340954:R133C;ENSP00000442729:R133C	ENSP00000340954:R133C	R	+	1	0	C20orf152	34031948	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	2.291000	0.43540	2.503000	0.84419	0.655000	0.94253	CGC	CNBD2	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000149646		0.587	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	-	0.00	20	0	C	NM_080834		34568534	+1	tier1	rs146293825	no_errors	ENST00000373973	ensembl	human	known	74_37	missense	45.65	25	21	SNP	1.000	T
CNGB1	1258	genome.wustl.edu	37	16	57918169	57918169	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:57918169C>T	ENST00000251102.8	-	33	3715	c.3655G>A	c.(3655-3657)Gaa>Aaa	p.E1219K	CNGB1_ENST00000564448.1_Missense_Mutation_p.E1213K	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1219					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAGTGCTCTTCGGGCTCGGCC	0.716																																					Colon(156;1293 1853 16336 28962 38659)												0													24.0	28.0	27.0					16																	57918169		1878	4062	5940	SO:0001583	missense	0			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3655G>A	16.37:g.57918169C>T	ENSP00000251102:p.Glu1219Lys		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E1219K	ENST00000251102.8	37	c.3655	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881804	0.51908	.	.	ENSG00000070729	ENST00000251102	D	0.96459	-4.02	4.83	-2.3	0.06785	.	1.353330	0.05018	N	0.472216	D	0.88614	0.6484	N	0.16478	0.41	0.09310	N	0.999999	B;B	0.19935	0.04;0.024	B;B	0.12837	0.008;0.006	T	0.80694	-0.1268	10	0.10377	T	0.69	.	2.5888	0.04837	0.2646:0.3598:0.2773:0.0982	.	591;1219	Q14028-2;Q14028	.;CNGB1_HUMAN	K	1219	ENSP00000251102:E1219K	ENSP00000251102:E1219K	E	-	1	0	CNGB1	56475670	0.000000	0.05858	0.036000	0.18154	0.288000	0.27193	-1.077000	0.03416	-0.214000	0.10078	0.655000	0.94253	GAA	CNGB1	-	NULL	ENSG00000070729		0.716	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	-	0.00	17	0	C	NM_001297		57918169	-1	tier1	-	no_errors	ENST00000251102	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.001	T
CNOT1	23019	genome.wustl.edu	37	16	58577327	58577327	+	Intron	SNP	A	A	C	rs556592424		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:58577327A>C	ENST00000317147.5	-	31	4767				CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.F1540V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		aaaaaaaaaaaacacacagac	0.299													A|||	1	0.000199681	0.0	0.0	5008	,	,		18548	0.0		0.001	False		,,,				2504	0.0																0													20.0	20.0	20.0					16																	58577327		1013	2122	3135	SO:0001627	intron_variant	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+183T>G	16.37:g.58577327A>C			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F1540V	ENST00000317147.5	37	c.4618	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	A	4.645	0.119968	0.08881	.	.	ENSG00000125107	ENST00000441024	T	0.44482	0.92	1.6	-3.2	0.05156	.	.	.	.	.	T	0.28499	0.0705	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12400	-1.0549	8	0.87932	D	0	.	5.872	0.18809	0.2548:0.5872:0.158:0.0	.	1540	A5YKK6-4	.	V	1540	ENSP00000413113:F1540V	ENSP00000413113:F1540V	F	-	1	0	CNOT1	57134828	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.507000	0.22675	-2.105000	0.00842	-1.344000	0.01245	TTT	CNOT1	-	NULL	ENSG00000125107		0.299	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	-	0.00	31	0	A	NM_016284		58577327	-1	tier1	-	no_errors	ENST00000441024	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.000	C
CNOT3	4849	genome.wustl.edu	37	19	54656009	54656009	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:54656009C>T	ENST00000406403.1	+	13	3255	c.1652C>T	c.(1651-1653)gCc>gTc	p.A551V	CNOT3_ENST00000358389.3_Missense_Mutation_p.A370V|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.A551V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	551	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAACGGGCAGCCATCAGCTCT	0.647																																																	0													61.0	58.0	59.0					19																	54656009		2203	4300	6503	SO:0001583	missense	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1652C>T	19.37:g.54656009C>T	ENSP00000383954:p.Ala551Val		Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.A551V	ENST00000406403.1	37	c.1652	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792834	0.70452	.	.	ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403	T;T	0.48201	0.82;0.82	4.59	4.59	0.56863	.	0.060646	0.64402	D	0.000004	T	0.59676	0.2211	L	0.46157	1.445	0.54753	D	0.999981	D;B;D;D	0.76494	0.993;0.003;0.993;0.999	D;B;D;D	0.78314	0.978;0.007;0.978;0.991	T	0.53027	-0.8496	10	0.16420	T	0.52	-28.0233	16.5577	0.84490	0.0:1.0:0.0:0.0	.	551;370;551;475	B7Z6J7;O75175-3;O75175;Q6ZMJ6	.;.;CNOT3_HUMAN;.	V	551;370;551	ENSP00000221232:A551V;ENSP00000383954:A551V	ENSP00000221232:A551V	A	+	2	0	CNOT3	59347821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.003000	0.76310	2.258000	0.74832	0.655000	0.94253	GCC	CNOT3	-	pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.647	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	-	0.00	43	0	C	NM_014516		54656009	+1	tier1	-	no_errors	ENST00000221232	ensembl	human	known	74_37	missense	68.00	16	34	SNP	1.000	T
CNTNAP2	26047	genome.wustl.edu	37	7	148112873	148112873	+	3'UTR	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:148112873delA	ENST00000361727.3	+	0	4677				CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACTGATCACAAAAAAAAAAA	0.333										HNSCC(39;0.1)																																							0																																										SO:0001624	3_prime_UTR_variant	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.*165A>-	7.37:g.148112873delA			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	RNA	DEL	-	NULL	ENST00000361727.3	37	NULL	CCDS5889.1	7																																																																																			CNTNAP2	-	-	ENSG00000174469		0.333	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1		0.00	19	0	A			148112873	+1	tier1		no_errors	ENST00000463592	ensembl	human	known	74_37	rna	44.83	16	13	DEL	0.048	-
CNTNAP5	129684	genome.wustl.edu	37	2	125547549	125547549	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:125547549G>A	ENST00000431078.1	+	18	3184	c.2820G>A	c.(2818-2820)atG>atA	p.M940I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	940	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACAGAAAATGGACCTGGAAG	0.527																																																	0													65.0	66.0	66.0					2																	125547549		2070	4224	6294	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2820G>A	2.37:g.125547549G>A	ENSP00000399013:p.Met940Ile		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.M940I	ENST00000431078.1	37	c.2820	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305870	0.40795	.	.	ENSG00000155052	ENST00000431078	T	0.46819	0.86	5.24	1.07	0.20283	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.588457	0.13880	N	0.356403	T	0.10895	0.0266	N	0.00162	-1.95	0.19300	N	0.999972	B	0.02656	0.0	B	0.01281	0.0	T	0.26538	-1.0100	10	0.39692	T	0.17	.	3.1761	0.06569	0.0913:0.1226:0.312:0.474	.	940	Q8WYK1	CNTP5_HUMAN	I	940	ENSP00000399013:M940I	ENSP00000399013:M940I	M	+	3	0	CNTNAP5	125264019	0.997000	0.39634	0.947000	0.38551	0.992000	0.81027	0.354000	0.20146	0.683000	0.31428	0.655000	0.94253	ATG	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000155052		0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0.00	46	0	G			125547549	+1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	21.28	37	10	SNP	0.972	A
COBLL1	22837	genome.wustl.edu	37	2	165551296	165551296	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:165551296delA	ENST00000392717.2	-	13	2838	c.2834delT	c.(2833-2835)ttgfs	p.L945fs	COBLL1_ENST00000375458.2_Frame_Shift_Del_p.L869fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.L974fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.L907fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	945						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGCATCTGCAAAAAAAAAGA	0.418																																																	0													32.0	35.0	34.0					2																	165551296		2203	4300	6503	SO:0001589	frameshift_variant	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2834delT	2.37:g.165551296delA	ENSP00000376478:p.Leu945fs		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom	p.L974fs	ENST00000392717.2	37	c.2921		2																																																																																			COBLL1	-	NULL	ENSG00000082438		0.418	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding			0.00	18	0	A	NM_014900		165551296	-1	tier1		no_errors	ENST00000194871	ensembl	human	known	74_37	frame_shift_del	35.29	11	6	DEL	0.972	-
COL11A1	1301	genome.wustl.edu	37	1	103474067	103474067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:103474067delC	ENST00000370096.3	-	15	1947	c.1635delG	c.(1633-1635)gggfs	p.G545fs	COL11A1_ENST00000358392.2_Frame_Shift_Del_p.G557fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G429fs|COL11A1_ENST00000461720.1_5'Flank|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G506fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	545	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGAACCAGGCCCCCCCTATA	0.368																																																	0													53.0	64.0	60.0					1																	103474067		2202	4300	6502	SO:0001589	frameshift_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1635delG	1.37:g.103474067delC	ENSP00000359114:p.Gly545fs		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P558fs	ENST00000370096.3	37	c.1671	CCDS778.1	1																																																																																			COL11A1	-	pfam_Collagen	ENSG00000060718		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0.00	38	0	C	NM_080630		103474067	-1	tier1		no_errors	ENST00000358392	ensembl	human	known	74_37	frame_shift_del	17.31	43	9	DEL	0.000	-
COL12A1	1303	genome.wustl.edu	37	6	75836149	75836149	+	Silent	SNP	G	G	A	rs371734128		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:75836149G>A	ENST00000322507.8	-	39	6687	c.6378C>T	c.(6376-6378)gaC>gaT	p.D2126D	COL12A1_ENST00000345356.6_Silent_p.D962D|COL12A1_ENST00000416123.2_Silent_p.D2126D|COL12A1_ENST00000483888.2_Silent_p.D2126D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2126	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATACCATTCGTCAGAGATGT	0.428																																																	0								G	,	0,3776		0,0,1888	118.0	109.0	111.0		6378,2886	-1.0	1.0	6		111	2,8244		0,2,4121	no	coding-synonymous,coding-synonymous	COL12A1	NM_004370.5,NM_080645.2	,	0,2,6009	AA,AG,GG		0.0243,0.0,0.0166	,	2126/3064,962/1900	75836149	2,12020	1888	4123	6011	SO:0001819	synonymous_variant	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6378C>T	6.37:g.75836149G>A			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	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.D2126	ENST00000322507.8	37	c.6378	CCDS43482.1	6																																																																																			COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.428	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0.00	28	0	G	NM_004370		75836149	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	silent	56.25	14	18	SNP	0.981	A
COL4A3	1285	genome.wustl.edu	37	2	228131180	228131180	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:228131180G>T	ENST00000396578.3	+	22	1525	c.1363G>T	c.(1363-1365)Ggc>Tgc	p.G455C	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	455	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CGGACTGCCAGGCTATCTAGG	0.398																																																	0													72.0	70.0	70.0					2																	228131180		1850	4094	5944	SO:0001583	missense	0				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1363G>T	2.37:g.228131180G>T	ENSP00000379823:p.Gly455Cys		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G455C	ENST00000396578.3	37	c.1363	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117168	0.56505	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.99637	-6.29	5.69	5.69	0.88448	.	0.000000	0.56097	D	0.000025	D	0.99799	0.9914	H	0.98256	4.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97042	0.9758	10	0.87932	D	0	.	15.3121	0.74042	0.0:0.0:1.0:0.0	.	455;455;455;455	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	C	455	ENSP00000379823:G455C	ENSP00000323334:G455C	G	+	1	0	COL4A3	227839424	1.000000	0.71417	0.990000	0.47175	0.268000	0.26511	5.383000	0.66219	2.685000	0.91497	0.655000	0.94253	GGC	COL4A3	-	pfam_Collagen	ENSG00000169031		0.398	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	-	0.00	44	0	G	NM_000091		228131180	+1	tier1	-	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	42.62	35	26	SNP	1.000	T
COL5A1	1289	genome.wustl.edu	37	9	137645711	137645711	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:137645711G>A	ENST00000371817.3	+	15	2149	c.1735G>A	c.(1735-1737)Gga>Aga	p.G579R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	579	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTGGGAGCGGAGGTTTGAA	0.662																																																	0													125.0	123.0	124.0					9																	137645711		2203	4300	6503	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1735G>A	9.37:g.137645711G>A	ENSP00000360882:p.Gly579Arg		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G579R	ENST00000371817.3	37	c.1735	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347763	0.41599	.	.	ENSG00000130635	ENST00000371817	D	0.92752	-3.1	5.1	5.1	0.69264	.	0.326644	0.29431	U	0.012175	T	0.79793	0.4507	N	0.00760	-1.21	0.36411	D	0.863737	D	0.60575	0.988	P	0.50136	0.632	T	0.82610	-0.0372	10	0.40728	T	0.16	.	6.7514	0.23489	0.0899:0.0:0.7323:0.1778	.	579	P20908	CO5A1_HUMAN	R	579	ENSP00000360882:G579R	ENSP00000360882:G579R	G	+	1	0	COL5A1	136785532	0.320000	0.24616	0.995000	0.50966	0.858000	0.48976	0.653000	0.24902	2.356000	0.79943	0.563000	0.77884	GGA	COL5A1	-	pfam_Collagen	ENSG00000130635		0.662	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0.00	50	0	G	NM_000093		137645711	+1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.965	A
COL6A5	256076	genome.wustl.edu	37	3	130107894	130107894	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:130107894G>C	ENST00000432398.2	+	6	2827	c.2333G>C	c.(2332-2334)aGc>aCc	p.S778T	COL6A5_ENST00000265379.6_Missense_Mutation_p.S778T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	778	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGTGGGGATAGCAGCCTAGTT	0.428																																																	0													192.0	162.0	171.0					3																	130107894		692	1591	2283	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2333G>C	3.37:g.130107894G>C	ENSP00000390895:p.Ser778Thr		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.S778T	ENST00000432398.2	37	c.2333		3	.	.	.	.	.	.	.	.	.	.	G	1.211	-0.629584	0.03610	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.76839	-1.05;-1.05	5.48	2.62	0.31277	.	.	.	.	.	T	0.64068	0.2565	N	0.25031	0.7	0.09310	N	1	B	0.14438	0.01	B	0.26614	0.071	T	0.56733	-0.7930	9	0.66056	D	0.02	.	5.3238	0.15895	0.27:0.2226:0.5074:0.0	.	778	A8TX70-2	.	T	778	ENSP00000390895:S778T;ENSP00000265379:S778T	ENSP00000265379:S778T	S	+	2	0	COL6A5	131590584	0.000000	0.05858	0.014000	0.15608	0.167000	0.22549	0.209000	0.17435	0.674000	0.31244	0.650000	0.86243	AGC	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.428	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding			0.00	20	0	G	NM_153264		130107894	+1			no_errors	ENST00000265379	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.000	C
CORO1A	11151	genome.wustl.edu	37	16	30198370	30198370	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:30198370C>T	ENST00000219150.5	+	5	767	c.462C>T	c.(460-462)aaC>aaT	p.N154N	RP11-455F5.5_ENST00000566144.1_RNA|CORO1A_ENST00000565497.1_Silent_p.N154N|RP11-455F5.5_ENST00000567153.1_RNA|RP11-455F5.5_ENST00000568506.1_RNA|CORO1A_ENST00000570045.1_Silent_p.N154N	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	154					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GTTGTGACAACGTGATCATGG	0.637																																																	0													117.0	92.0	101.0					16																	30198370		2197	4300	6497	SO:0001819	synonymous_variant	0			X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.462C>T	16.37:g.30198370C>T			B2RBL1|Q2YD73	Silent	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N154	ENST00000219150.5	37	c.462	CCDS10673.1	16																																																																																			CORO1A	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000102879		0.637	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1A	HGNC	protein_coding	OTTHUMT00000255195.2	-	0.00	59	0	C	NM_007074		30198370	+1	tier1	-	no_errors	ENST00000219150	ensembl	human	known	74_37	silent	47.67	45	41	SNP	0.980	T
CORO1B	57175	genome.wustl.edu	37	11	67209168	67209169	+	Intron	DEL	GG	GG	-	rs540646391	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:67209168_67209169delGG	ENST00000341356.5	-	4	565				CORO1B_ENST00000545016.1_Frame_Shift_Del_p.H164fs|CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000393893.1_Intron	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B						actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGGGGTCCGTGGGGGGGGGGAG	0.658																																																	0																																										SO:0001627	intron_variant	0			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.454+34CC>-	11.37:g.67209176_67209177delGG			B2RD45	Frame_Shift_Del	DEL	pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H164fs	ENST00000341356.5	37	c.490_489	CCDS8164.1	11																																																																																			CORO1B	-	NULL	ENSG00000172725		0.658	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1B	HGNC	protein_coding	OTTHUMT00000396220.1		0.00	18	0	GG	NM_020441		67209169	-1	tier1		no_errors	ENST00000545016	ensembl	human	known	74_37	frame_shift_del	50.00	31	31	DEL	0.000:0.000	-
COX10	1352	genome.wustl.edu	37	17	14095522	14095522	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:14095522G>A	ENST00000261643.3	+	6	989	c.912G>A	c.(910-912)acG>acA	p.T304T	COX10_ENST00000537334.1_Silent_p.T87T|COX10_ENST00000536205.1_Silent_p.T112T	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	304					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CAGCGGCCACGGGCAGCCTCG	0.587																																																	0													72.0	73.0	73.0					17																	14095522		2203	4300	6503	SO:0001819	synonymous_variant	0			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.912G>A	17.37:g.14095522G>A			B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	p.T304	ENST00000261643.3	37	c.912	CCDS11166.1	17																																																																																			COX10	-	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	ENSG00000006695		0.587	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX10	HGNC	protein_coding	OTTHUMT00000130003.1		0.00	70	0	G	NM_001303		14095522	+1			no_errors	ENST00000261643	ensembl	human	known	74_37	silent	10.43	103	12	SNP	0.010	A
COX16	51241	genome.wustl.edu	37	14	70793016	70793017	+	3'UTR	DEL	AA	AA	-	rs74353890|rs572419917	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:70793016_70793017delAA	ENST00000389912.6	-	0	497_498				SYNJ2BP-COX16_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)							integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)				large_intestine(1)|lung(2)	3						atttttatttaaaaaaaaaaaa	0.356																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF151037	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983			20213	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 112"""	C14orf112		11042152, 15596615	Standard	NM_016468		Approved	HSPC203		Q9P0S2	OTTHUMG00000171238	ENST00000389912.6:c.*34TT>-	14.37:g.70793026_70793027delAA			A6NDT5|A8K3X8	RNA	DEL	-	NULL	ENST00000389912.6	37	NULL	CCDS9802.1	14																																																																																			COX16	-	-	ENSG00000133983		0.356	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX16	HGNC	protein_coding	OTTHUMT00000412470.2		0.00	22	0	AA	NM_016468		70793017	-1	tier1		no_errors	ENST00000557612	ensembl	human	known	74_37	rna	27.59	21	8	DEL	0.002:0.001	-
COX7C	1350	genome.wustl.edu	37	5	85913793	85913794	+	5'UTR	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:85913793_85913794insA	ENST00000509578.1	+	0	21_22				COX7C_ENST00000515763.1_5'UTR|COX7C_ENST00000247655.3_5'UTR|MIR3607_ENST00000362392.1_RNA			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc						cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		ACAAGGTCGTGAAAAAAAAGGT	0.55																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.-79->A	5.37:g.85913801_85913801dupA			Q6NR81	RNA	INS	-	NULL	ENST00000509578.1	37	NULL	CCDS4063.1	5																																																																																			COX7C	-	-	ENSG00000127184		0.550	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	COX7C	HGNC	protein_coding	OTTHUMT00000369746.1		0.00	41	0	-	NM_001867		85913794	+1	tier1		no_errors	ENST00000505430	ensembl	human	known	74_37	rna	23.26	33	10	INS	0.001:0.000	A
CPEB2	132864	genome.wustl.edu	37	4	15060881	15060881	+	Missense_Mutation	SNP	G	G	A	rs374594133		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:15060881G>A	ENST00000507071.1	+	9	1403	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q	CPEB2_ENST00000442003.2_Missense_Mutation_p.R857Q|CPEB2_ENST00000259997.5_Missense_Mutation_p.R447Q|CPEB2_ENST00000541112.1_Missense_Mutation_p.R876Q|CPEB2_ENST00000382395.3_Missense_Mutation_p.R417Q|CPEB2_ENST00000345451.3_Missense_Mutation_p.R409Q|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000538197.1_Missense_Mutation_p.R884Q|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.R412Q			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	439					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TTGGATCCCCGAAAAACAATT	0.343																																																	0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	111.0	115.0	114.0		2570,2651,2561,2546,2627,2537	5.7	1.0	4		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	CPEB2	NM_001177381.1,NM_001177382.1,NM_001177383.1,NM_001177384.1,NM_182485.2,NM_182646.2	43,43,43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	857/1008,884/1035,854/1005,849/1000,876/1027,846/997	15060881	1,13005	2203	4300	6503	SO:0001583	missense	0			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1316G>A	4.37:g.15060881G>A	ENSP00000424084:p.Arg439Gln		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R884Q	ENST00000507071.1	37	c.2651		4	.	.	.	.	.	.	.	.	.	.	G	36	5.604348	0.96626	0.0	1.16E-4	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.87578	0.975;0.992;0.993;0.995;0.998;0.974	T	0.31392	-0.9945	10	0.87932	D	0	-7.9725	19.7607	0.96316	0.0:0.0:1.0:0.0	.	412;417;857;884;409;439	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	Q	884;876;857;439;409;417;412;447;426;92	ENSP00000443985:R884Q;ENSP00000437884:R876Q;ENSP00000414270:R857Q;ENSP00000424084:R439Q;ENSP00000334058:R409Q;ENSP00000371832:R417Q;ENSP00000371838:R412Q;ENSP00000259997:R447Q;ENSP00000423890:R92Q	ENSP00000259997:R447Q	R	+	2	0	CPEB2	14669979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.662000	0.90505	0.591000	0.81541	CGA	CPEB2	-	NULL	ENSG00000137449		0.343	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	CPEB2	HGNC	protein_coding	OTTHUMT00000207349.2	-	0.00	51	0	G	XM_059607		15060881	+1	tier1	-	no_errors	ENST00000538197	ensembl	human	known	74_37	missense	20.69	69	18	SNP	1.000	A
CPED1	79974	genome.wustl.edu	37	7	120691425	120691427	+	Intron	DEL	TTT	TTT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:120691425_120691427delTTT	ENST00000310396.5	+	4	1007				CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Intron	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1							endoplasmic reticulum (GO:0005783)											TGTAAATGCCTTTTTTTTTTTTA	0.325																																																	0																																										SO:0001627	intron_variant	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.540+4378TTT>-	7.37:g.120691434_120691436delTTT			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	RNA	DEL	-	NULL	ENST00000310396.5	37	NULL	CCDS34739.1	7																																																																																			CPED1	-	-	ENSG00000106034		0.325	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1		0.00	17	0	TTT	NM_024913		120691427	+1	tier1		no_errors	ENST00000495036	ensembl	human	known	74_37	rna	22.22	14	4	DEL	0.653:0.693:0.715	-
CPSF1	29894	genome.wustl.edu	37	8	145625613	145625613	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:145625613delG	ENST00000349769.3	-	9	978	c.884delC	c.(883-885)ccgfs	p.P295fs	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	295					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CACGCCATACGGGGGGACGCT	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)												0													54.0	41.0	45.0					8																	145625613		2202	4300	6502	SO:0001589	frameshift_variant	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.884delC	8.37:g.145625613delG	ENSP00000339353:p.Pro295fs		Q96AF0	Frame_Shift_Del	DEL	pfam_Cleavage/polyA-sp_fac_asu_C	p.P295fs	ENST00000349769.3	37	c.884	CCDS34966.1	8																																																																																			CPSF1	-	NULL	ENSG00000071894		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2		0.00	23	0	G	NM_013291		145625613	-1	tier1		no_errors	ENST00000349769	ensembl	human	known	74_37	frame_shift_del	10.00	81	9	DEL	1.000	-
CPSF3L	54973	genome.wustl.edu	37	1	1248015	1248015	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:1248015C>T	ENST00000435064.1	-	13	1442	c.1360G>A	c.(1360-1362)Gta>Ata	p.V454I	CPSF3L_ENST00000450926.2_Missense_Mutation_p.V432I|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000421495.2_Missense_Mutation_p.V196I|CPSF3L_ENST00000419704.1_Missense_Mutation_p.V353I|CPSF3L_ENST00000545578.1_Missense_Mutation_p.V425I|CPSF3L_ENST00000540437.1_Missense_Mutation_p.V460I|CPSF3L_ENST00000411962.1_Missense_Mutation_p.V356I	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	454					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GAGATGCCTACGGGGATGCTG	0.711																																																	0													32.0	35.0	34.0					1																	1248015		2200	4293	6493	SO:0001583	missense	0			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1360G>A	1.37:g.1248015C>T	ENSP00000413493:p.Val454Ile		A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.V460I	ENST00000435064.1	37	c.1378	CCDS21.1	1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317930	0.23994	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578	T;T;T;T	0.49720	0.81;0.8;0.77;0.81	5.05	5.05	0.67936	.	0.061436	0.64402	D	0.000004	T	0.32285	0.0824	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B	0.31290	0.037;0.022;0.213;0.318;0.037;0.022	B;B;B;B;B;B	0.24541	0.031;0.014;0.011;0.054;0.031;0.014	T	0.11108	-1.0601	10	0.18710	T	0.47	-29.1828	16.1799	0.81890	0.0:1.0:0.0:0.0	.	432;425;356;353;460;454	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	I	454;356;353;460;432;425	ENSP00000413493:V454I;ENSP00000445001:V460I;ENSP00000392848:V432I;ENSP00000444672:V425I	ENSP00000400548:V356I	V	-	1	0	CPSF3L	1237878	1.000000	0.71417	0.996000	0.52242	0.041000	0.13682	6.510000	0.73729	2.349000	0.79799	0.462000	0.41574	GTA	CPSF3L	-	NULL	ENSG00000127054		0.711	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3L	HGNC	protein_coding	OTTHUMT00000009360.2	-	0.00	28	0	C	NM_017871		1248015	-1	tier1	-	no_errors	ENST00000540437	ensembl	human	known	74_37	missense	27.50	29	11	SNP	1.000	T
CR2	1380	genome.wustl.edu	37	1	207641843	207641844	+	Intron	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:207641843_207641844insT	ENST00000367058.3	+	3	634				CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Intron|CR2_ENST00000367057.3_Intron|CR2_ENST00000367059.3_Intron	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2						B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CATCTGACGGCTTTTTTTTCCT	0.45																																																	0																																										SO:0001627	intron_variant	0			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.446-28->T	1.37:g.207641851_207641851dupT			C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	RNA	INS	-	NULL	ENST00000367058.3	37	NULL	CCDS1478.1	1																																																																																			CR2	-	-	ENSG00000117322		0.450	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1		0.00	24	0	-	NM_001877		207641844	+1	tier1		no_errors	ENST00000485707	ensembl	human	known	74_37	rna	29.63	19	8	INS	0.047:0.038	T
CRAT	1384	genome.wustl.edu	37	9	131864814	131864814	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:131864814delC	ENST00000318080.2	-	5	789	c.495delG	c.(493-495)gggfs	p.G165fs	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	165					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ACAGTGGCTTCCCCCCCAGGT	0.607																																																	0													196.0	189.0	191.0					9																	131864814		2203	4300	6503	SO:0001589	frameshift_variant	0			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.495delG	9.37:g.131864814delC	ENSP00000315013:p.Gly165fs		Q5T952|Q9BW16	Frame_Shift_Del	DEL	pfam_Carn_acyl_trans	p.K166fs	ENST00000318080.2	37	c.495	CCDS6919.1	9																																																																																			CRAT	-	pfam_Carn_acyl_trans	ENSG00000095321		0.607	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAT	HGNC	protein_coding	OTTHUMT00000253700.1		0.00	49	0	C			131864814	-1	tier1		no_errors	ENST00000318080	ensembl	human	known	74_37	frame_shift_del	34.78	60	32	DEL	0.127	-
TLN1	7094	genome.wustl.edu	37	9	35733097	35733097	+	5'Flank	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:35733097C>T	ENST00000314888.9	-	0	0				TLN1_ENST00000540444.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Silent_p.D78D	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCACCATGACCACACCTACT	0.547																																																	0													130.0	125.0	127.0					9																	35733097		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35733097C>T	Exception_encountered		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.D78	ENST00000314888.9	37	c.234	CCDS35009.1	9																																																																																			CREB3	-	NULL	ENSG00000107175		0.547	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3	HGNC	protein_coding	OTTHUMT00000052353.2	-	0.00	43	0	C	NM_006289		35733097	+1	tier1	-	no_errors	ENST00000353704	ensembl	human	known	74_37	silent	20.00	40	10	SNP	0.980	T
CRIPAK	285464	genome.wustl.edu	37	4	1388569	1388569	+	Silent	SNP	C	C	T	rs550621315|rs544489321	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:1388569C>T	ENST00000324803.4	+	1	3230	c.270C>T	c.(268-270)gcC>gcT	p.A90A		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	90					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TCACATGTGCCGATGTGGAGT	0.647																																																	0													250.0	218.0	229.0					4																	1388569		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.270C>T	4.37:g.1388569C>T			Q8NB03	Silent	SNP	smart_Post-SET_dom	p.A90	ENST00000324803.4	37	c.270	CCDS3349.1	4																																																																																			CRIPAK	-	NULL	ENSG00000179979		0.647	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIPAK	HGNC	protein_coding	OTTHUMT00000241607.2	-	0.00	170	0	C	NM_175918		1388569	+1	tier1	-	no_errors	ENST00000324803	ensembl	human	known	74_37	silent	16.70	379	76	SNP	0.000	T
CRMP1	1400	genome.wustl.edu	37	4	5857915	5857915	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:5857915A>G	ENST00000397890.2	-	4	647	c.433T>C	c.(433-435)Tac>Cac	p.Y145H	CRMP1_ENST00000324989.7_Missense_Mutation_p.Y259H|CRMP1_ENST00000512574.1_Missense_Mutation_p.Y143H|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	145					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ACGCCATCGTACCAGCTTGTG	0.547																																																	0													115.0	98.0	104.0					4																	5857915		2203	4300	6503	SO:0001583	missense	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.433T>C	4.37:g.5857915A>G	ENSP00000380987:p.Tyr145His		A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.Y259H	ENST00000397890.2	37	c.775	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	a	7.485	0.649545	0.14516	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.89415	-2.51;-2.51;-2.51	3.09	0.474	0.16768	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.410728	0.24669	N	0.036578	T	0.61022	0.2314	N	0.00621	-1.32	0.35606	D	0.808234	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.14023	0.01;0.001;0.005;0.005	T	0.47315	-0.9127	10	0.21014	T	0.42	-6.7544	3.0175	0.06064	0.6074:0.0:0.2131:0.1795	.	259;143;145;82	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	H	259;145;145;143	ENSP00000321606:Y259H;ENSP00000380987:Y145H;ENSP00000425742:Y143H	ENSP00000321606:Y259H	Y	-	1	0	CRMP1	5908816	0.997000	0.39634	0.979000	0.43373	0.978000	0.69477	0.832000	0.27490	-0.065000	0.13021	-0.484000	0.04775	TAC	CRMP1	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000072832		0.547	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	-	0.00	62	0	A	NM_001313		5857915	-1	tier1	-	no_errors	ENST00000324989	ensembl	human	known	74_37	missense	70.00	24	56	SNP	1.000	G
CROCCP2	84809	genome.wustl.edu	37	1	16945454	16945454	+	lincRNA	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:16945454G>A	ENST00000412962.1	-	0	2065				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCCTACGACGGCAGGCCTACC	0.642																																																	0																																												0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945454G>A			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.642	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	-	0.00	71	0	G	NR_026752.1		16945454	-1	tier1	-	no_errors	ENST00000412962	ensembl	human	known	74_37	rna	7.83	104	9	SNP	0.003	A
CRYAA	1409	genome.wustl.edu	37	21	44589921	44589921	+	Intron	DEL	C	C	-	rs71699904		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr21:44589921delC	ENST00000291554.2	+	1	281				CRYAA_ENST00000398133.1_Frame_Shift_Del_p.R29fs|CRYAA_ENST00000398132.1_5'Flank|CRYAA_ENST00000482775.1_Intron	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A						negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GCAATGGACGCCCCCCCCCCC	0.612																																																	0																																										SO:0001627	intron_variant	0				CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.189+523C>-	21.37:g.44589921delC			Q53X53	Frame_Shift_Del	DEL	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.33fs	ENST00000291554.2	37	c.87	CCDS13695.1	21																																																																																			CRYAA	-	superfamily_HSP20-like_chaperone	ENSG00000160202		0.612	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYAA	HGNC	protein_coding	OTTHUMT00000195562.1		0.00	13	0	C			44589921	+1	tier1		no_errors	ENST00000398133	ensembl	human	putative	74_37	frame_shift_del	40.00	21	14	DEL	0.026	-
CSF2RA	1438	genome.wustl.edu	37	X	1414467	1414467	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:1414467C>T	ENST00000381524.3	+	9	996				CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381529.3_Intron|CSF2RA_ENST00000498153.1_Intron|BX649553.1_ENST00000583047.1_RNA|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000417535.2_Intron|CSF2RA_ENST00000381509.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000432318.2_Intron|CSF2RA_ENST00000361536.3_Intron|BX649553.2_ENST00000578699.1_RNA|MIR3690_ENST00000580266.1_RNA|CSF2RA_ENST00000355432.3_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCCCTACCGACGACCTCCAGC	0.567																																					Esophageal Squamous(131;723 1707 25334 40494 41806)												0																																										SO:0001627	intron_variant	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.810+118C>T	X.37:g.1414467C>T			A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	RNA	SNP	-	NULL	ENST00000381524.3	37	NULL	CCDS35191.1	X																																																																																			CSF2RA	-	-	ENSG00000198223		0.567	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2	-	0.00	124	0	C			1414467	+1	tier1	-	no_errors	ENST00000491683	ensembl	human	putative	74_37	rna	12.38	92	13	SNP	0.993	T
CSF3	1440	genome.wustl.edu	37	17	38171995	38171995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:38171995delC	ENST00000225474.2	+	2	123	c.92delC	c.(91-93)accfs	p.T31fs	RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000394148.3_Frame_Shift_Del_p.T31fs|CSF3_ENST00000394149.3_Frame_Shift_Del_p.T31fs|CSF3_ENST00000331769.2_Frame_Shift_Del_p.T27fs|CSF3_ENST00000577675.1_Frame_Shift_Del_p.T27fs			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	31					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				CAGGAAGCCACCCCCCTGGGC	0.642																																																	0													25.0	25.0	25.0					17																	38171995		2201	4297	6498	SO:0001589	frameshift_variant	0				CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"""Endogenous ligands"""	2438	protein-coding gene	gene with protein product	"""granulocyte colony stimulating factor"", ""pluripoietin"", ""filgrastim"", ""lenograstim"""	138970	"""chromosome 17 open reading frame 33"""	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.92delC	17.37:g.38171995delC	ENSP00000225474:p.Thr31fs		A8MXR7	Frame_Shift_Del	DEL	pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,pirsf_IL-6/IL-23/GCSF/MGF,prints_IL-6/IL-23/GCSF/MGF	p.L33fs	ENST00000225474.2	37	c.92	CCDS11357.1	17																																																																																			CSF3	-	pirsf_IL-6/IL-23/GCSF/MGF	ENSG00000108342		0.642	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSF3	HGNC	protein_coding	OTTHUMT00000256988.2		0.00	27	0	C	NM_172220		38171995	+1	tier1		no_errors	ENST00000225474	ensembl	human	known	74_37	frame_shift_del	21.43	33	9	DEL	0.000	-
CSMD3	114788	genome.wustl.edu	37	8	113301669	113301669	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:113301669G>A	ENST00000297405.5	-	57	9317	c.9073C>T	c.(9073-9075)Cgt>Tgt	p.R3025C	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2985C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2856C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2955C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3025	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAAGGGAACGCTTTCCTGTG	0.468										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													118.0	106.0	110.0					8																	113301669		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9073C>T	8.37:g.113301669G>A	ENSP00000297405:p.Arg3025Cys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R3025C	ENST00000297405.5	37	c.9073	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208066	0.79240	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	6.17	5.3	0.74995	Complement control module (2);Sushi/SCR/CCP (3);	0.080038	0.49916	D	0.000122	T	0.78916	0.4359	M	0.75447	2.3	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.999;0.962	T	0.81335	-0.0979	10	0.62326	D	0.03	.	15.4602	0.75349	0.066:0.0:0.934:0.0	.	2856;3025;2985	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2985;3025;2295;2856;2955	ENSP00000345799:R2985C;ENSP00000297405:R3025C;ENSP00000341558:R2295C;ENSP00000412263:R2856C;ENSP00000343124:R2955C	ENSP00000297405:R3025C	R	-	1	0	CSMD3	113370845	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	4.199000	0.58426	1.616000	0.50265	0.655000	0.94253	CGT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.468	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	32	0	G	NM_052900		113301669	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	20.00	48	12	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113308228	113308228	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:113308228A>T	ENST00000297405.5	-	54	8692	c.8448T>A	c.(8446-8448)caT>caA	p.H2816Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.H2776Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2647Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2746Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2816	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAATTCCACAATGACCCGCTG	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													70.0	67.0	68.0					8																	113308228		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8448T>A	8.37:g.113308228A>T	ENSP00000297405:p.His2816Gln		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H2816Q	ENST00000297405.5	37	c.8448	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543484	0.45280	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.31	-0.656	0.11436	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	L	0.35414	1.06	0.41100	D	0.985663	D;D;D	0.69078	0.997;0.995;0.997	D;D;D	0.76575	0.988;0.98;0.921	T	0.04115	-1.0976	10	0.16420	T	0.52	.	11.2253	0.48880	0.3623:0.0:0.6377:0.0	.	2647;2816;2776	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	2776;2816;2086;2647;2746	ENSP00000345799:H2776Q;ENSP00000297405:H2816Q;ENSP00000341558:H2086Q;ENSP00000412263:H2647Q;ENSP00000343124:H2746Q	ENSP00000297405:H2816Q	H	-	3	2	CSMD3	113377404	1.000000	0.71417	0.998000	0.56505	0.280000	0.26924	2.896000	0.48656	-0.054000	0.13266	-0.899000	0.02877	CAT	CSMD3	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	53	0	A	NM_052900		113308228	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	45.79	58	49	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113529438	113529438	+	Silent	SNP	C	C	T	rs563110439		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:113529438C>T	ENST00000297405.5	-	28	4825	c.4581G>A	c.(4579-4581)gcG>gcA	p.A1527A	CSMD3_ENST00000343508.3_Silent_p.A1487A|CSMD3_ENST00000455883.2_Silent_p.A1423A|CSMD3_ENST00000352409.3_Silent_p.A1527A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1527	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTCACGACACGCAGTGGCAA	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													51.0	46.0	48.0					8																	113529438		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4581G>A	8.37:g.113529438C>T			Q96PZ3	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A1527	ENST00000297405.5	37	c.4581	CCDS6315.1	8																																																																																			CSMD3	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	44	0	C	NM_052900		113529438	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	11.90	111	15	SNP	0.080	T
CSNK1G2	1455	genome.wustl.edu	37	19	1954193	1954193	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:1954193C>T	ENST00000255641.8	+	1	230				CSNK1G2-AS1_ENST00000586395.1_RNA|CSNK1G2-AS1_ENST00000314315.3_RNA	NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2						protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTGCGCCCCTCCATTGT	0.632																																					Ovarian(91;880 1392 21236 36928 37598)												0																																										SO:0001627	intron_variant	0			AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.-266+12776C>T	19.37:g.1954193C>T			B5BU42|O00704|Q8WUB1	RNA	SNP	-	NULL	ENST00000255641.8	37	NULL	CCDS12077.1	19																																																																																			CSNK1G2-AS1	-	-	ENSG00000180846		0.632	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1G2-AS1	HGNC	protein_coding	OTTHUMT00000449287.1	-	0.00	35	0	C	NM_001319		1954193	-1	tier1	-	no_errors	ENST00000314315	ensembl	human	known	74_37	rna	42.03	40	29	SNP	0.000	T
CSNK2A1	1457	genome.wustl.edu	37	20	485835	485835	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:485835C>T	ENST00000217244.3	-	4	515	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	CSNK2A1_ENST00000400217.2_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R47Q|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R47Q	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	47	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GTATTTACCTCGGCCTAATTT	0.338																																																	0													86.0	73.0	77.0					20																	485835		2203	4299	6502	SO:0001583	missense	0			M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.140G>A	20.37:g.485835C>T	ENSP00000217244:p.Arg47Gln		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R47Q	ENST00000217244.3	37	c.140	CCDS13003.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.518586	0.96416	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	T;T;T	0.65178	-0.14;-0.14;-0.14	4.56	4.56	0.56223	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	N	0.17312	0.475	0.80722	D	1	D	0.69078	0.997	P	0.56788	0.806	T	0.68089	-0.5501	10	0.66056	D	0.02	-6.3143	16.8636	0.86024	0.0:1.0:0.0:0.0	.	47	P68400	CSK21_HUMAN	Q	47	ENSP00000383086:R47Q;ENSP00000339247:R47Q;ENSP00000217244:R47Q	ENSP00000217244:R47Q	R	-	2	0	CSNK2A1	433835	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.609000	0.82925	2.535000	0.85469	0.555000	0.69702	CGA	CSNK2A1	-	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	ENSG00000101266		0.338	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSNK2A1	HGNC	protein_coding	OTTHUMT00000077466.1	-	0.00	70	0	C	NM_001895		485835	-1	tier1	-	no_errors	ENST00000217244	ensembl	human	known	74_37	missense	23.08	40	12	SNP	1.000	T
CSPG4	1464	genome.wustl.edu	37	15	75983102	75983103	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:75983102_75983103delTC	ENST00000308508.5	-	3	395_396	c.303_304delGA	c.(301-306)gagacgfs	p.ET101fs		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	101	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTCAGCAGCGTCTCTGCTGGAG	0.579																																																	0																																										SO:0001589	frameshift_variant	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.303_304delGA	15.37:g.75983104_75983105delTC	ENSP00000312506:p.Glu101fs		D3DW77|Q92675	Frame_Shift_Del	DEL	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.E101fs	ENST00000308508.5	37	c.304_303	CCDS10284.1	15																																																																																			CSPG4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000173546		0.579	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1		0.00	95	0	TC	NM_001897		75983103	-1	tier1		no_errors	ENST00000308508	ensembl	human	known	74_37	frame_shift_del	21.80	104	29	DEL	0.000:0.000	-
CST4	1472	genome.wustl.edu	37	20	23667826	23667826	+	Frame_Shift_Del	DEL	C	C	-	rs140501583		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:23667826delC	ENST00000217423.3	-	2	311	c.241delG	c.(241-243)gtgfs	p.V81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AAGTAATTCACCCCCCCAAAG	0.552																																																	0													208.0	191.0	197.0					20																	23667826		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.241delG	20.37:g.23667826delC	ENSP00000217423:p.Val81fs		Q9UBI5|Q9UCS9	Frame_Shift_Del	DEL	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.V81fs	ENST00000217423.3	37	c.241	CCDS13159.1	20																																																																																			CST4	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000101441		0.552	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST4	HGNC	protein_coding	OTTHUMT00000078349.2		0.00	65	0	C	NM_001899		23667826	-1	tier1		no_errors	ENST00000217423	ensembl	human	known	74_37	frame_shift_del	17.81	180	39	DEL	0.000	-
CSTF2T	23283	genome.wustl.edu	37	10	53459077	53459077	+	Missense_Mutation	SNP	T	T	C	rs376475408		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:53459077T>C	ENST00000331173.4	-	1	278	c.233A>G	c.(232-234)aAt>aGt	p.N78S	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	78	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CTCCCGCCCATTGAGGTTCCG	0.547																																																	0								T	,,SER/ASN	0,4406		0,0,2203	111.0	123.0	119.0		,,233	4.8	1.0	10		119	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,missense	PRKG1,CSTF2T	NM_001098512.2,NM_006258.3,NM_015235.2	,,46	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	,,benign	,,78/617	53459077	2,13004	2203	4300	6503	SO:0001583	missense	0			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.233A>G	10.37:g.53459077T>C	ENSP00000332444:p.Asn78Ser		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N78S	ENST00000331173.4	37	c.233	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	T	15.76	2.928685	0.52759	0.0	2.33E-4	ENSG00000177613	ENST00000331173	T	0.79653	-1.29	4.77	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	L	0.45352	1.415	0.80722	D	1	B	0.25272	0.122	B	0.37198	0.243	T	0.78478	-0.2188	10	0.87932	D	0	-8.7855	12.5663	0.56312	0.0:0.0:0.0:1.0	.	78	Q9H0L4	CSTFT_HUMAN	S	78	ENSP00000332444:N78S	ENSP00000332444:N78S	N	-	2	0	CSTF2T	53129083	1.000000	0.71417	0.958000	0.39756	0.973000	0.67179	7.330000	0.79181	2.141000	0.66446	0.402000	0.26972	AAT	CSTF2T	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000177613		0.547	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	HGNC	protein_coding	OTTHUMT00000048097.1	-	0.00	34	0	T	NM_015235		53459077	-1	tier1	-	no_errors	ENST00000331173	ensembl	human	known	74_37	missense	32.61	31	15	SNP	0.999	C
CTDP1	9150	genome.wustl.edu	37	18	77474867	77474867	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:77474867C>T	ENST00000299543.7	+	8	1554	c.1407C>T	c.(1405-1407)tcC>tcT	p.S469S	CTDP1_ENST00000075430.7_Silent_p.S469S	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	469	Ser-rich.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCACGAAGTCCTCCTCCTCCG	0.672																																																	0																																										SO:0001819	synonymous_variant	0			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1407C>T	18.37:g.77474867C>T			A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.S469	ENST00000299543.7	37	c.1407	CCDS12017.1	18																																																																																			CTDP1	-	NULL	ENSG00000060069		0.672	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	-	0.00	9	0	C	NM_004715		77474867	+1	tier1	-	no_errors	ENST00000299543	ensembl	human	known	74_37	silent	26.47	25	9	SNP	0.000	T
CTSC	1075	genome.wustl.edu	37	11	88068234	88068234	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:88068234delT	ENST00000227266.5	-	2	303	c.189delA	c.(187-189)aaafs	p.K63fs	CTSC_ENST00000524463.1_Frame_Shift_Del_p.K63fs|CTSC_ENST00000529974.1_Frame_Shift_Del_p.K63fs|CTSC_ENST00000393301.4_5'UTR	NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	63				K -> I (in Ref. 6; BAD96758). {ECO:0000305}.	aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACACCACTACTTTTTTTTCTT	0.343																																																	0													79.0	78.0	78.0					11																	88068234		2201	4299	6500	SO:0001589	frameshift_variant	0			AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.189delA	11.37:g.88068234delT	ENSP00000227266:p.Lys63fs		A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Frame_Shift_Del	DEL	pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.V64fs	ENST00000227266.5	37	c.189	CCDS8282.1	11																																																																																			CTSC	-	pfam_CathepsinC_exc	ENSG00000109861		0.343	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSC	HGNC	protein_coding	OTTHUMT00000394019.2		0.00	24	0	T	NM_001814		88068234	-1			no_errors	ENST00000227266	ensembl	human	known	74_37	frame_shift_del	32.14	19	9	DEL	0.999	0
CTTNBP2NL	55917	genome.wustl.edu	37	1	112999148	112999148	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:112999148A>G	ENST00000271277.6	+	6	1259	c.1034A>G	c.(1033-1035)tAt>tGt	p.Y345C		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	345					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		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)		GCTTACTCATATGCAAAAACC	0.493																																																	0													144.0	147.0	146.0					1																	112999148		2203	4300	6503	SO:0001583	missense	0			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1034A>G	1.37:g.112999148A>G	ENSP00000271277:p.Tyr345Cys		B3KMS5|Q96B40	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N	p.Y345C	ENST00000271277.6	37	c.1034	CCDS845.1	1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.728796	0.30593	.	.	ENSG00000143079	ENST00000271277	T	0.23348	1.91	5.69	4.5	0.54988	.	0.260319	0.39834	N	0.001260	T	0.10551	0.0258	L	0.47716	1.5	0.44282	D	0.997143	P	0.47106	0.89	B	0.35971	0.215	T	0.04678	-1.0934	10	0.39692	T	0.17	-6.0267	11.414	0.49941	0.8647:0.0:0.0:0.1353	.	345	Q9P2B4	CT2NL_HUMAN	C	345	ENSP00000271277:Y345C	ENSP00000271277:Y345C	Y	+	2	0	CTTNBP2NL	112800671	0.757000	0.28394	0.989000	0.46669	0.525000	0.34531	1.681000	0.37618	2.163000	0.67991	0.460000	0.39030	TAT	CTTNBP2NL	-	NULL	ENSG00000143079		0.493	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	HGNC	protein_coding	OTTHUMT00000030686.1	-	0.00	18	0	A	NM_018704		112999148	+1	tier1	-	no_errors	ENST00000271277	ensembl	human	known	74_37	missense	69.57	7	16	SNP	0.981	G
CUX1	1523	genome.wustl.edu	37	7	101845168	101845168	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:101845168G>T	ENST00000292535.7	+	18	2629	c.2591G>T	c.(2590-2592)cGg>cTg	p.R864L	CUX1_ENST00000550008.2_Missense_Mutation_p.R808L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R762L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R706L|CUX1_ENST00000360264.3_Missense_Mutation_p.R875L|CUX1_ENST00000549414.2_Missense_Mutation_p.R842L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	864					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCCAGCCTCGGGCCGAGCGC	0.657																																																	0													41.0	43.0	42.0					7																	101845168		2203	4300	6503	SO:0001583	missense	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2591G>T	7.37:g.101845168G>T	ENSP00000292535:p.Arg864Leu		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R875L	ENST00000292535.7	37	c.2624	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.185419	0.94885	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.64438	-0.07;-0.04;-0.1;-0.1;-0.1;-0.09	5.29	5.29	0.74685	.	0.254652	0.31221	N	0.008028	T	0.72423	0.3458	L	0.60455	1.87	0.80722	D	1	P;D	0.56035	0.956;0.974	P;P	0.55545	0.605;0.778	T	0.75476	-0.3304	10	0.72032	D	0.01	-32.4629	17.9256	0.88982	0.0:0.0:1.0:0.0	.	864;875	P39880;P39880-3	CUX1_HUMAN;.	L	875;864;842;808;762;706	ENSP00000353401:R875L;ENSP00000292535:R864L;ENSP00000446630:R842L;ENSP00000447373:R808L;ENSP00000450125:R762L;ENSP00000451558:R706L	ENSP00000292535:R864L	R	+	2	0	CUX1	101631888	1.000000	0.71417	0.019000	0.16419	0.712000	0.41017	4.247000	0.58750	2.483000	0.83821	0.655000	0.94253	CGG	CUX1	-	NULL	ENSG00000257923		0.657	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	-	0.00	43	0	G	NM_001913		101845168	+1	tier1	-	no_errors	ENST00000360264	ensembl	human	known	74_37	missense	39.60	61	40	SNP	0.187	T
CUX2	23316	genome.wustl.edu	37	12	111748477	111748477	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:111748477C>T	ENST00000261726.6	+	15	2045	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	631					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CATCCAAGTGCGGCAGCGAGG	0.637																																																	0													26.0	29.0	28.0					12																	111748477		2061	4190	6251	SO:0001583	missense	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1891C>T	12.37:g.111748477C>T	ENSP00000261726:p.Arg631Trp		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R631W	ENST00000261726.6	37	c.1891	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068530	0.55539	.	.	ENSG00000111249	ENST00000261726	T	0.57436	0.4	4.75	3.83	0.44106	Homeodomain protein CUT (1);Lambda repressor-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	L	0.36672	1.1	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.65553	-0.6140	10	0.87932	D	0	-30.141	13.7788	0.63071	0.1599:0.8401:0.0:0.0	.	631	O14529	CUX2_HUMAN	W	631	ENSP00000261726:R631W	ENSP00000261726:R631W	R	+	1	2	CUX2	110232860	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	3.867000	0.56047	0.930000	0.37217	0.305000	0.20034	CGG	CUX2	-	superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000111249		0.637	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	-	0.00	13	0	C	NM_015267		111748477	+1	tier1	-	no_errors	ENST00000261726	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	T
CXCR2	3579	genome.wustl.edu	37	2	219000454	219000454	+	Frame_Shift_Del	DEL	C	C	-	rs544347825		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:219000454delC	ENST00000318507.2	+	3	1357	c.930delC	c.(928-930)aacfs	p.N310fs		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	310					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCTGCCTCAACCCCCTCATCT	0.557																																																	0													94.0	91.0	92.0					2																	219000454		2203	4300	6503	SO:0001589	frameshift_variant	0			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.930delC	2.37:g.219000454delC	ENSP00000319635:p.Asn310fs		Q8IUZ1|Q9P2T6|Q9P2T7	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.L312fs	ENST00000318507.2	37	c.930	CCDS2408.1	2																																																																																			CXCR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180871		0.557	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR2	HGNC	protein_coding	OTTHUMT00000256772.2		0.00	29	0	C	NM_001557		219000454	+1	tier1		no_errors	ENST00000318507	ensembl	human	known	74_37	frame_shift_del	41.27	37	26	DEL	1.000	-
RTP5	285093	genome.wustl.edu	37	2	242814375	242814375	+	Frame_Shift_Del	DEL	C	C	-	rs35989328		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:242814375delC	ENST00000343216.3	+	2	696	c.668delC	c.(667-669)gccfs	p.A223fs		NM_173821.2	NP_776182.2																					GAGGGCCCTGCCCCCCCTGCG	0.657																																																	0													23.0	26.0	25.0					2																	242814375		1939	4124	6063	SO:0001589	frameshift_variant	0																														ENST00000343216.3:c.668delC	2.37:g.242814375delC	ENSP00000345374:p.Ala223fs			Frame_Shift_Del	DEL	NULL	p.P225fs	ENST00000343216.3	37	c.668	CCDS42843.1	2																																																																																			CXXC11	-	NULL	ENSG00000188011		0.657	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC11	HGNC	protein_coding	OTTHUMT00000322310.1		0.00	34	0	C			242814375	+1	tier1		no_errors	ENST00000343216	ensembl	human	known	74_37	frame_shift_del	41.79	39	28	DEL	0.000	-
CXorf36	79742	genome.wustl.edu	37	X	45051221	45051221	+	Silent	SNP	G	G	A	rs141296501	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:45051221G>A	ENST00000398000.2	-	2	347	c.273C>T	c.(271-273)ccC>ccT	p.P91P	CXorf36_ENST00000377934.4_Silent_p.P91P|CXorf36_ENST00000477281.1_5'Flank|RP11-342D14.1_ENST00000450527.1_RNA|RP11-342D14.1_ENST00000438181.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	91						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						GCAAGGAATCGGGAGGCAGTC	0.498																																																	0								G	,	0,3835		0,0,0,1632,571	62.0	61.0	62.0		273,273	-9.3	0.0	X	dbSNP_134	62	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous	CXorf36	NM_024689.2,NM_176819.3	,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	,	91/183,91/434	45051221	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.273C>T	X.37:g.45051221G>A			A8MUU5|B2RPN7|Q6UWJ5	Silent	SNP	NULL	p.P91	ENST00000398000.2	37	c.273	CCDS48096.1	X																																																																																			CXorf36	-	NULL	ENSG00000147113		0.498	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf36	HGNC	protein_coding	OTTHUMT00000056333.2	-	0.00	29	0	G	NM_024689		45051221	-1	tier1	rs141296501	no_errors	ENST00000398000	ensembl	human	known	74_37	silent	71.43	10	25	SNP	0.001	A
CYB561A3	220002	genome.wustl.edu	37	11	61124145	61124145	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:61124145C>T	ENST00000294072.4	-	3	718	c.41G>A	c.(40-42)gGg>gAg	p.G14E	CYB561A3_ENST00000544118.1_Missense_Mutation_p.G14E|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000546151.1_Missense_Mutation_p.G14E|CYB561A3_ENST00000426130.2_Missense_Mutation_p.G31E|CYB561A3_ENST00000536915.1_Missense_Mutation_p.G14E|CYB561A3_ENST00000539890.1_Missense_Mutation_p.G14E|CYB561A3_ENST00000447532.2_Missense_Mutation_p.G14E	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	14	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)										GCCCAGGGACCCCAGCAGCAG	0.532																																																	0													149.0	140.0	143.0					11																	61124145		2203	4299	6502	SO:0001583	missense	0			AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.41G>A	11.37:g.61124145C>T	ENSP00000294072:p.Gly14Glu		B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.G31E	ENST00000294072.4	37	c.92	CCDS8004.1	11	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264656	0.40095	.	.	ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000546151;ENST00000544118;ENST00000536915;ENST00000539890;ENST00000542361;ENST00000537364;ENST00000539128;ENST00000545361;ENST00000537680	T;T;T;T;T;T	0.62364	0.03;0.05;0.04;0.05;1.06;1.07	5.38	3.47	0.39725	Cytochrome b561/ferric reductase transmembrane (1);	0.521085	0.21402	N	0.075135	T	0.64951	0.2645	L	0.57536	1.79	0.24359	N	0.994883	P;D;D;P	0.53462	0.933;0.96;0.96;0.933	B;P;P;B	0.48795	0.386;0.504;0.59;0.231	T	0.58498	-0.7626	10	0.29301	T	0.29	-2.1037	15.7705	0.78164	0.0:0.7428:0.2572:0.0	.	31;14;14;14	B4DLN9;F5H0P5;F5H1Q2;Q8NBI2	.;.;.;CYAC3_HUMAN	E	31;14;14;14;14;14;14;14;14;14;14;14	ENSP00000398979:G31E;ENSP00000294072:G14E;ENSP00000389745:G14E;ENSP00000437390:G14E;ENSP00000443321:G14E;ENSP00000438725:G14E	ENSP00000294072:G14E	G	-	2	0	CYBASC3	60880721	0.967000	0.33354	0.058000	0.19502	0.975000	0.68041	2.306000	0.43673	0.604000	0.29930	0.561000	0.74099	GGG	CYB561A3	-	pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000162144		0.532	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB561A3	HGNC	protein_coding	OTTHUMT00000398714.2	-	0.00	32	0	C	NM_153611		61124145	-1	tier1	-	no_errors	ENST00000426130	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.555	T
CYP27A1	1593	genome.wustl.edu	37	2	219674399	219674399	+	Missense_Mutation	SNP	C	C	T	rs369294392|rs587778793		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:219674399C>T	ENST00000258415.4	+	2	782	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	119					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GCAAGTGATGCGGCAAGAGGG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18140	0.0		0.0	False		,,,				2504	0.001																0			GRCh37	CD941659	CYP27A1	D		C	TRP/ARG	0,4406		0,0,2203	144.0	124.0	131.0		355	3.6	1.0	2		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP27A1	NM_000784.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	119/532	219674399	1,13005	2203	4300	6503	SO:0001583	missense	0			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.355C>T	2.37:g.219674399C>T	ENSP00000258415:p.Arg119Trp		A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.R119W	ENST00000258415.4	37	c.355	CCDS2423.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083515	0.76642	0.0	1.16E-4	ENSG00000135929	ENST00000258415;ENST00000411688	T;T	0.69175	-0.38;-0.38	5.67	3.62	0.41486	.	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	M	0.88181	2.935	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	D	0.87250	0.2272	10	0.87932	D	0	-36.1956	14.2688	0.66138	0.3746:0.6254:0.0:0.0	.	119	Q02318	CP27A_HUMAN	W	119;25	ENSP00000258415:R119W;ENSP00000392671:R25W	ENSP00000258415:R119W	R	+	1	2	CYP27A1	219382643	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.443000	0.21644	1.339000	0.45563	0.655000	0.94253	CGG	CYP27A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000135929		0.587	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	HGNC	protein_coding	OTTHUMT00000109734.4	-	0.00	30	0	C			219674399	+1	tier1	-	no_errors	ENST00000258415	ensembl	human	known	74_37	missense	36.99	46	27	SNP	1.000	T
CYP4F3	4051	genome.wustl.edu	37	19	15769134	15769134	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:15769134T>C	ENST00000221307.8	+	10	1223	c.1176T>C	c.(1174-1176)caT>caC	p.H392H	CYP4F3_ENST00000586182.2_Silent_p.H392H|CYP4F3_ENST00000585846.1_Silent_p.H392H|CYP4F3_ENST00000591058.1_Silent_p.H392H	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	392					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGAGGCTGCATCCCCCAGTCC	0.622																																																	0													71.0	72.0	72.0					19																	15769134		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1176T>C	19.37:g.15769134T>C			B7Z8Z3|O60634|Q5U740	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.H392	ENST00000221307.8	37	c.1176	CCDS12332.1	19																																																																																			CYP4F3	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	ENSG00000186529		0.622	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP4F3	HGNC	protein_coding	OTTHUMT00000460819.3	-	0.00	53	0	T	NM_000896		15769134	+1	tier1	-	no_errors	ENST00000221307	ensembl	human	known	74_37	silent	40.45	53	36	SNP	0.894	C
DAAM1	23002	genome.wustl.edu	37	14	59835592	59835592	+	3'UTR	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:59835592delT	ENST00000395125.1	+	0	3275				DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_3'UTR|DAAM1_ENST00000351081.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1						actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCATGAATACTTTTTTTTAGA	0.373																																																	0													36.0	37.0	37.0					14																	59835592		2203	4299	6502	SO:0001624	3_prime_UTR_variant	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.*15T>-	14.37:g.59835592delT			Q86U34|Q8N1Z8|Q8TB39	RNA	DEL	-	NULL	ENST00000395125.1	37	NULL	CCDS9737.1	14																																																																																			DAAM1	-	-	ENSG00000100592		0.373	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2		0.00	38	0	T	NM_014992		59835592	+1	tier1		no_errors	ENST00000553966	ensembl	human	known	74_37	rna	68.89	14	31	DEL	0.059	-
DAZAP1	26528	genome.wustl.edu	37	19	1434830	1434830	+	Frame_Shift_Del	DEL	G	G	-	rs368917206		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:1434830delG	ENST00000233078.4	+	12	1304	c.1143delG	c.(1141-1143)tcgfs	p.S381fs	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	381	Pro-rich.		S -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCAGGGTcggggggccccc	0.711																																																	0													12.0	16.0	15.0					19																	1434830		2200	4293	6493	SO:0001589	frameshift_variant	0				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.1143delG	19.37:g.1434830delG	ENSP00000233078:p.Ser381fs		Q96MJ3|Q9NRR9	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G383fs	ENST00000233078.4	37	c.1143	CCDS12065.1	19																																																																																			DAZAP1	-	NULL	ENSG00000071626		0.711	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP1	HGNC	protein_coding	OTTHUMT00000449522.3		0.00	42	0	G	NM_170711		1434830	+1	tier1		no_errors	ENST00000233078	ensembl	human	known	74_37	frame_shift_del	24.17	91	29	DEL	0.048	-
PGAM2	5224	genome.wustl.edu	37	7	44101106	44101106	+	IGR	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:44101106G>A	ENST00000297283.3	-	0	857				DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_3'UTR|DBNL_ENST00000494774.1_3'UTR	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GATGCAGATGGCCAAGCTCCC	0.567																																																	0																																										SO:0001628	intergenic_variant	0				CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355		7.37:g.44101106G>A				RNA	SNP	-	NULL	ENST00000297283.3	37	NULL	CCDS34624.1	7																																																																																			DBNL	-	-	ENSG00000136279		0.567	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBNL	HGNC	protein_coding	OTTHUMT00000339614.1	-	0.00	37	0	G			44101106	+1	tier1	-	no_errors	ENST00000497184	ensembl	human	known	74_37	rna	45.00	43	36	SNP	0.000	A
DCAF8L2	347442	genome.wustl.edu	37	X	27765039	27765039	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:27765039C>T	ENST00000451261.2	+	5	426	c.27C>T	c.(25-27)gaC>gaT	p.D9D		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	9										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GCAGCACAGACGGCTTACCAG	0.547																																																	0													54.0	40.0	44.0					X																	27765039		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.27C>T	X.37:g.27765039C>T			B2RXH9|J3KT06	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D9	ENST00000451261.2	37	c.27	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL	ENSG00000189186		0.547	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	-	0.00	10	0	C	XM_293354		27765039	+1	tier1	-	no_errors	ENST00000451261	ensembl	human	known	74_37	silent	88.89	2	16	SNP	0.000	T
DCC	1630	genome.wustl.edu	37	18	50592505	50592505	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:50592505G>T	ENST00000442544.2	+	7	1846	c.1230G>T	c.(1228-1230)caG>caT	p.Q410H	DCC_ENST00000412726.1_Missense_Mutation_p.Q258H|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.Q65H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	410	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAATGCCCAGACCAGTGCAC	0.448																																																	0													151.0	137.0	142.0					18																	50592505		2203	4300	6503	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1230G>T	18.37:g.50592505G>T	ENSP00000389140:p.Gln410His			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q410H	ENST00000442544.2	37	c.1230	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647003	0.29246	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.67865	-0.29;-0.29	5.31	4.32	0.51571	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.74619	0.3740	L	0.54965	1.715	0.41798	D	0.989901	D;D;D	0.89917	0.994;0.999;1.0	D;D;D	0.83275	0.953;0.985;0.996	T	0.74548	-0.3629	10	0.56958	D	0.05	.	7.567	0.27885	0.2258:0.0:0.7742:0.0	.	258;258;410	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	H	410;343;258	ENSP00000389140:Q410H;ENSP00000397322:Q258H	ENSP00000304146:Q343H	Q	+	3	2	DCC	48846503	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.596000	0.54024	1.046000	0.40249	0.650000	0.86243	CAG	DCC	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000187323		0.448	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0.00	80	0	G	NM_005215		50592505	+1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	21.67	47	13	SNP	1.000	T
DCHS1	8642	genome.wustl.edu	37	11	6655411	6655411	+	Missense_Mutation	SNP	G	G	A	rs374740842		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:6655411G>A	ENST00000299441.3	-	3	2335	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCAGGGTCCGGGTTGTGCAC	0.592																																																	0								G	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	96.0	90.0	92.0		1924	3.8	0.9	11		92	0,8592		0,0,4296	no	missense	DCHS1	NM_003737.2	101	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	642/3299	6655411	1,12993	2201	4296	6497	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1924C>T	11.37:g.6655411G>A	ENSP00000299441:p.Arg642Trp		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R642W	ENST00000299441.3	37	c.1924	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937691	0.52972	2.27E-4	0.0	ENSG00000166341	ENST00000299441	T	0.54279	0.58	4.75	3.81	0.43845	Cadherin (4);Cadherin-like (1);	0.176831	0.27455	N	0.019300	T	0.64853	0.2636	L	0.50847	1.595	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56727	-0.7931	10	0.72032	D	0.01	.	11.5319	0.50616	0.0:0.0:0.8208:0.1792	.	642	Q96JQ0	PCD16_HUMAN	W	642	ENSP00000299441:R642W	ENSP00000299441:R642W	R	-	1	2	DCHS1	6611987	0.981000	0.34729	0.929000	0.37066	0.958000	0.62258	1.752000	0.38349	1.172000	0.42781	0.561000	0.74099	CGG	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	-	0.00	28	0	G	NM_003737		6655411	-1	tier1	-	no_errors	ENST00000299441	ensembl	human	known	74_37	missense	58.57	29	41	SNP	0.002	A
DCHS2	54798	genome.wustl.edu	37	4	155253834	155253834	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:155253834T>C	ENST00000357232.4	-	9	2028	c.2029A>G	c.(2029-2031)Aca>Gca	p.T677A	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Missense_Mutation_p.T1176A	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	677	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAATGACTGTAGTGCTCACA	0.448																																																	0													123.0	126.0	125.0					4																	155253834		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2029A>G	4.37:g.155253834T>C	ENSP00000349768:p.Thr677Ala		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T677A	ENST00000357232.4	37	c.2029	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	T	3.148	-0.174847	0.06421	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.64260	-0.09;-0.09	4.89	-1.15	0.09709	Cadherin (3);Cadherin-like (1);	0.869354	0.09687	N	0.768953	T	0.53867	0.1823	M	0.64630	1.985	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.47275	-0.9130	10	0.39692	T	0.17	.	6.9249	0.24410	0.5219:0.24:0.0:0.2381	.	1176;677	E9PC11;Q6V1P9	.;PCD23_HUMAN	A	677;1176;1176	ENSP00000349768:T677A;ENSP00000345062:T1176A	ENSP00000345062:T1176A	T	-	1	0	DCHS2	155473284	0.005000	0.15991	0.017000	0.16124	0.196000	0.23810	1.103000	0.31062	-0.007000	0.14345	-1.629000	0.00783	ACA	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0.00	51	0	T	NM_001142552		155253834	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.000	C
DCST1	149095	genome.wustl.edu	37	1	155007018	155007018	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:155007018delG	ENST00000295542.1	+	3	265	c.169delG	c.(169-171)gggfs	p.G58fs	DCST2_ENST00000368424.3_5'Flank|DCST1_ENST00000368419.2_Frame_Shift_Del_p.G58fs|DCST1_ENST00000392480.1_Frame_Shift_Del_p.G58fs|DCST2_ENST00000295536.5_5'Flank|DCST1_ENST00000423025.2_Frame_Shift_Del_p.G58fs	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	58						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGCAGGCGCTGGGGGGCTCCT	0.642																																																	0													67.0	78.0	74.0					1																	155007018		2203	4300	6503	SO:0001589	frameshift_variant	0			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.169delG	1.37:g.155007018delG	ENSP00000295542:p.Gly58fs		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Frame_Shift_Del	DEL	pfam_DC_STAMP-like,pfscan_Znf_RING	p.L59fs	ENST00000295542.1	37	c.169	CCDS1083.1	1																																																																																			DCST1	-	NULL	ENSG00000163357		0.642	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1		0.00	51	0	G	NM_152494		155007018	+1	tier1		no_errors	ENST00000295542	ensembl	human	known	74_37	frame_shift_del	22.67	58	17	DEL	0.954	-
DDX11	1663	genome.wustl.edu	37	12	31256314	31256314	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:31256314G>A	ENST00000407793.2	+	25	2767	c.2516G>A	c.(2515-2517)cGt>cAt	p.R839H	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.R839H|DDX11_ENST00000542838.1_Missense_Mutation_p.V841I|DDX11_ENST00000350437.4_Missense_Mutation_p.V791I|DDX11_ENST00000228264.6_Missense_Mutation_p.V815I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	839					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CATGAAGGCCGTCAACCAGTC	0.632										Multiple Myeloma(12;0.14)																																							0													8.0	10.0	9.0					12																	31256314		2184	4232	6416	SO:0001583	missense	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2516G>A	12.37:g.31256314G>A	ENSP00000384703:p.Arg839His		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.R839H	ENST00000407793.2	37	c.2516	CCDS44856.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.90|12.90	2.076103|2.076103	0.36662|0.36662	.|.	.|.	ENSG00000013573|ENSG00000013573	ENST00000407793;ENST00000545668|ENST00000542838;ENST00000228264;ENST00000350437	T;T|D;D;D	0.73047|0.94000	-0.71;-0.71|-3.33;-3.33;-3.33	3.23|3.23	2.31|2.31	0.28768|0.28768	Helicase, ATP-dependent, c2 type (1);|.	.|0.821914	.|0.10750	.|N	.|0.638476	D|D	0.90587|0.90587	0.7049|0.7049	M|M	0.66560|0.66560	2.04|2.04	0.80722|0.80722	D|D	1|1	P|P;P;P	0.43412|0.38582	0.806|0.638;0.638;0.638	B|B;B;B	0.34722|0.35510	0.188|0.204;0.189;0.204	D|D	0.85980|0.85980	0.1482|0.1482	9|10	0.66056|0.54805	D|T	0.02|0.06	.|.	7.2792|7.2792	0.26302|0.26302	0.1428:0.0:0.8572:0.0|0.1428:0.0:0.8572:0.0	.|.	839|815;791;841	Q96FC9|Q96FC9-3;Q96FC9-4;Q96FC9-2	DDX11_HUMAN|.;.;.	H|I	839|841;815;791	ENSP00000384703:R839H;ENSP00000440402:R839H|ENSP00000443426:V841I;ENSP00000228264:V815I;ENSP00000309965:V791I	ENSP00000384703:R839H|ENSP00000228264:V815I	R|V	+|+	2|1	0|0	DDX11|DDX11	31147581|31147581	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.665000|0.665000	0.39181|0.39181	6.739000|6.739000	0.74827|0.74827	0.522000|0.522000	0.28464|0.28464	0.505000|0.505000	0.49811|0.49811	CGT|GTC	DDX11	-	smart_ATP-dep_Helicase_C	ENSG00000013573		0.632	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	-	0.00	64	0	G	NM_030653		31256314	+1	tier1	-	no_errors	ENST00000407793	ensembl	human	known	74_37	missense	32.26	84	40	SNP	1.000	A
DDX19B	11269	genome.wustl.edu	37	16	70351424	70351425	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:70351424_70351425delTA	ENST00000288071.6	+	5	567_568	c.322_323delTA	c.(322-324)tatfs	p.Y108fs	DDX19B_ENST00000451014.3_Intron|DDX19B_ENST00000355992.3_Intron|DDX19B_ENST00000393657.2_5'UTR|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_5'UTR|DDX19B_ENST00000563392.1_5'UTR|DDX19B_ENST00000563206.1_Frame_Shift_Del_p.Y113fs|RP11-529K1.3_ENST00000567706.1_Frame_Shift_Del_p.Y108fs|DDX19B_ENST00000570055.1_3'UTR	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	108	N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				CCAAGGAGTCTATGCCATGGGT	0.416																																					Esophageal Squamous(26;382 757 1343 9728 15939)												0																																										SO:0001589	frameshift_variant	0			AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.322_323delTA	16.37:g.70351424_70351425delTA	ENSP00000288071:p.Tyr108fs		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Y108fs	ENST00000288071.6	37	c.322_323	CCDS10888.1	16																																																																																			DDX19B	-	pfscan_RNA_helicase_DEAD_Q_motif	ENSG00000157349		0.416	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19B	HGNC	protein_coding	OTTHUMT00000268965.3		0.00	45	0	TA	NM_007242		70351425	+1	tier1		no_errors	ENST00000288071	ensembl	human	known	74_37	frame_shift_del	35.71	63	35	DEL	1.000:1.000	-
DDX23	9416	genome.wustl.edu	37	12	49226301	49226301	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:49226301T>C	ENST00000308025.3	-	14	1938	c.1859A>G	c.(1858-1860)tAt>tGt	p.Y620C		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	620	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCGCCGAAGATAGCTCCTGGC	0.572																																																	0													61.0	52.0	55.0					12																	49226301		2203	4300	6503	SO:0001583	missense	0			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1859A>G	12.37:g.49226301T>C	ENSP00000310723:p.Tyr620Cys		B2R600|B4DH15|O43188	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Y620C	ENST00000308025.3	37	c.1859	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	T	28.3	4.908818	0.92107	.	.	ENSG00000174243	ENST00000308025	T	0.05081	3.5	5.65	5.65	0.86999	DEAD-like helicase (2);	0.122411	0.56097	D	0.000022	T	0.26557	0.0649	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00666	-1.1619	10	0.87932	D	0	-11.379	14.9931	0.71406	0.0:0.0:0.0:1.0	.	620	Q9BUQ8	DDX23_HUMAN	C	620	ENSP00000310723:Y620C	ENSP00000310723:Y620C	Y	-	2	0	DDX23	47512568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.490000	0.81461	2.371000	0.80710	0.533000	0.62120	TAT	DDX23	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000174243		0.572	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2		0.00	15	0	T	NM_004818		49226301	-1			no_errors	ENST00000308025	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	C
DDX28	55794	genome.wustl.edu	37	16	68056444	68056444	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:68056444G>T	ENST00000332395.5	-	1	1326	c.662C>A	c.(661-663)gCt>gAt	p.A221D	DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000358896.6_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	221	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TTGGGCCACAGCCCGCACCTG	0.672																																																	0													26.0	32.0	30.0					16																	68056444		2198	4297	6495	SO:0001583	missense	0			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.662C>A	16.37:g.68056444G>T	ENSP00000332340:p.Ala221Asp			Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A221D	ENST00000332395.5	37	c.662	CCDS10858.1	16	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155162	0.21371	.	.	ENSG00000182810	ENST00000332395	T	0.14640	2.49	5.52	3.52	0.40303	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.342931	0.30428	N	0.009649	T	0.06508	0.0167	N	0.04669	-0.19	0.09310	N	1	B	0.29766	0.256	B	0.34301	0.179	T	0.29088	-1.0023	10	0.42905	T	0.14	-1.1569	6.2304	0.20732	0.0735:0.1339:0.6539:0.1387	.	221	Q9NUL7	DDX28_HUMAN	D	221	ENSP00000332340:A221D	ENSP00000332340:A221D	A	-	2	0	DDX28	66613945	0.176000	0.23096	0.005000	0.12908	0.174000	0.22865	2.612000	0.46343	0.671000	0.31185	0.561000	0.74099	GCT	DDX28	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000182810		0.672	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX28	HGNC	protein_coding	OTTHUMT00000268883.1	-	0.00	41	0	G	NM_018380		68056444	-1	tier1	-	no_errors	ENST00000332395	ensembl	human	known	74_37	missense	60.75	41	65	SNP	0.022	T
DDX54	79039	genome.wustl.edu	37	12	113599199	113599199	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:113599199C>T	ENST00000306014.5	-	19	2328				DDX54_ENST00000549271.1_5'UTR|DDX54_ENST00000314045.7_Intron	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54						ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGGAAACCTCGTTAAGGAAG	0.567																																																	0													134.0	108.0	117.0					12																	113599199		2203	4300	6503	SO:0001627	intron_variant	0			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2301-12G>A	12.37:g.113599199C>T			Q86YT8|Q9BRZ1	RNA	SNP	-	NULL	ENST00000306014.5	37	NULL	CCDS31907.1	12																																																																																			DDX54	-	-	ENSG00000123064		0.567	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DDX54	HGNC	protein_coding	OTTHUMT00000405435.1	-	0.00	35	0	C	NM_024072		113599199	-1	tier1	-	no_errors	ENST00000549271	ensembl	human	putative	74_37	rna	28.99	49	20	SNP	0.001	T
DDX59	83479	genome.wustl.edu	37	1	200594042	200594042	+	Frame_Shift_Del	DEL	T	T	-	rs544875711	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:200594042delT	ENST00000447706.2	-	8	1881	c.1730delA	c.(1729-1731)aatfs	p.N577fs				Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	0	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.N577fs*>4(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						GGAAGAACAATTTTTTTTAAG	0.373																																																	1	Deletion - Frameshift(1)	ovary(1)											107.0	97.0	101.0					1																	200594042		2202	4300	6502	SO:0001589	frameshift_variant	0			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000447706.2:c.1730delA	1.37:g.200594042delT	ENSP00000394367:p.Asn577fs		Q6PJL2|Q8IVW3|Q9H0W3	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.N577fs	ENST00000447706.2	37	c.1730		1																																																																																			DDX59	-	pfscan_Helicase_C	ENSG00000118197		0.373	DDX59-001	KNOWN	basic	protein_coding	DDX59	HGNC	protein_coding	OTTHUMT00000086882.3		0.00	54	0	T	NM_001031725.4		200594042	-1	tier1		no_errors	ENST00000447706	ensembl	human	known	74_37	frame_shift_del	50.00	30	30	DEL	0.001	-
DENND1C	79958	genome.wustl.edu	37	19	6475732	6475732	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:6475732G>A	ENST00000381480.2	-	12	922	c.810C>T	c.(808-810)caC>caT	p.H270H	DENND1C_ENST00000591030.1_5'Flank|DENND1C_ENST00000543576.1_Silent_p.H226H	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	270	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CGAGACTGGCGTGCACTCCAA	0.687																																																	0													17.0	18.0	18.0					19																	6475732		2111	4204	6315	SO:0001819	synonymous_variant	0			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.810C>T	19.37:g.6475732G>A			B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.H270	ENST00000381480.2	37	c.810	CCDS45938.1	19																																																																																			DENND1C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000205744		0.687	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1C	HGNC	protein_coding	OTTHUMT00000453332.2	-	0.00	17	0	G	NM_024898		6475732	-1	tier1	-	no_errors	ENST00000381480	ensembl	human	known	74_37	silent	43.86	32	25	SNP	0.998	A
DENND2C	163259	genome.wustl.edu	37	1	115168367	115168367	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:115168367C>T	ENST00000393274.1	-	4	864	c.239G>A	c.(238-240)gGt>gAt	p.G80D	DENND2C_ENST00000393277.1_Missense_Mutation_p.G80D|DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393276.3_Missense_Mutation_p.G80D	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	80					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATATCTAGACCCACATTTTC	0.343																																																	0													154.0	160.0	158.0					1																	115168367		2203	4300	6503	SO:0001583	missense	0				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.239G>A	1.37:g.115168367C>T	ENSP00000376955:p.Gly80Asp		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G80D	ENST00000393274.1	37	c.239	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	1.196	-0.633904	0.03584	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.08193	3.55;3.69;3.12	5.5	0.172	0.15031	.	0.915238	0.09436	N	0.802406	T	0.01695	0.0054	L	0.40543	1.245	0.09310	N	0.999999	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.003	T	0.48525	-0.9028	10	0.27785	T	0.31	.	1.7132	0.02896	0.1319:0.4516:0.1279:0.2886	.	80;80	Q68D51;Q68D51-3	DEN2C_HUMAN;.	D	80	ENSP00000376957:G80D;ENSP00000376955:G80D;ENSP00000376958:G80D	ENSP00000358553:G80D	G	-	2	0	DENND2C	114969890	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.052000	0.14163	-0.227000	0.09884	0.644000	0.83932	GGT	DENND2C	-	NULL	ENSG00000175984		0.343	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	-	0.00	54	0	C	NM_198459		115168367	-1	tier1	-	no_errors	ENST00000393274	ensembl	human	known	74_37	missense	45.45	36	30	SNP	0.009	T
DENND4B	9909	genome.wustl.edu	37	1	153914345	153914345	+	Splice_Site	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:153914345G>A	ENST00000361217.4	-	6	1473	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	352	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCATGCTCACGCTTCCAAGGG	0.637																																																	0													40.0	45.0	44.0					1																	153914345		2102	4209	6311	SO:0001630	splice_region_variant	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1055+1C>T	1.37:g.153914345G>A			Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A352V	ENST00000361217.4	37	c.1055	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183292	0.57800	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.12039	2.72;2.72	4.39	4.39	0.52855	DENN (3);	0.475831	0.20859	N	0.084397	T	0.09335	0.0230	L	0.32530	0.975	0.43745	D	0.99624	D	0.61697	0.99	P	0.52386	0.697	T	0.11446	-1.0587	9	.	.	.	-18.0066	11.1611	0.48516	0.0:0.0:0.8156:0.1844	.	352	O75064	DEN4B_HUMAN	V	352;363	ENSP00000354597:A352V;ENSP00000357635:A363V	.	A	-	2	0	DENND4B	152180969	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.592000	0.46171	2.292000	0.77174	0.462000	0.41574	GCG	DENND4B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000198837		0.637	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	-	0.00	36	0	G	XM_375806	Missense_Mutation	153914345	-1	tier1	-	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	33.33	46	23	SNP	1.000	A
DENND4B	9909	genome.wustl.edu	37	1	153914758	153914758	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:153914758G>A	ENST00000361217.4	-	5	1133	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	239	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCCCCATGGGCAGGCAGAAG	0.647																																																	0													57.0	71.0	66.0					1																	153914758		2093	4201	6294	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.715C>T	1.37:g.153914758G>A	ENSP00000354597:p.Pro239Ser		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P239S	ENST00000361217.4	37	c.715	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734213	0.89482	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	D;D	0.95756	-3.8;-3.8	4.51	4.51	0.55191	uDENN (3);	.	.	.	.	D	0.98105	0.9375	H	0.94886	3.595	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.99177	1.0866	9	0.87932	D	0	-8.2651	16.148	0.81583	0.0:0.0:1.0:0.0	.	239	O75064	DEN4B_HUMAN	S	239;250	ENSP00000354597:P239S;ENSP00000357635:P250S	ENSP00000354597:P239S	P	-	1	0	DENND4B	152181382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.450000	0.97607	2.358000	0.79984	0.563000	0.77884	CCC	DENND4B	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000198837		0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	-	0.00	23	0	G	XM_375806		153914758	-1	tier1	-	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	42.37	34	25	SNP	1.000	A
DENND5A	23258	genome.wustl.edu	37	11	9164987	9164987	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:9164987T>C	ENST00000328194.3	-	20	3670	c.3350A>G	c.(3349-3351)aAt>aGt	p.N1117S	DENND5A_ENST00000527700.1_Missense_Mutation_p.N460S|DENND5A_ENST00000530044.1_Missense_Mutation_p.N1117S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1117					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CACAATGCCATTGACTGCCTC	0.458																																																	0													235.0	214.0	221.0					11																	9164987		2201	4296	6497	SO:0001583	missense	0			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3350A>G	11.37:g.9164987T>C	ENSP00000328524:p.Asn1117Ser		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run	p.N1117S	ENST00000328194.3	37	c.3350	CCDS31423.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.5|28.5	4.926806|4.926806	0.92319|0.92319	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000533737|ENST00000328194;ENST00000530044;ENST00000527700	.|T;T;T	.|0.11277	.|2.79;2.79;2.79	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.36608|0.36608	0.0973|0.0973	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.99	.|D;P	.|0.72338	.|0.977;0.886	T|T	0.16689|0.16689	-1.0394|-1.0394	5|10	.|0.87932	.|D	.|0	.|.	16.3756|16.3756	0.83387|0.83387	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1117;1117	.|E9PS91;Q6IQ26	.|.;DEN5A_HUMAN	V|S	5|1117;1117;460	.|ENSP00000328524:N1117S;ENSP00000435866:N1117S;ENSP00000432549:N460S	.|ENSP00000328524:N1117S	M|N	-|-	1|2	0|0	DENND5A|DENND5A	9121563|9121563	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.008000|8.008000	0.88588|0.88588	2.270000|2.270000	0.75569|0.75569	0.460000|0.460000	0.39030|0.39030	ATG|AAT	DENND5A	-	NULL	ENSG00000184014		0.458	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	-	0.00	26	0	T	NM_015213		9164987	-1	tier1	-	no_errors	ENST00000328194	ensembl	human	known	74_37	missense	58.82	14	20	SNP	1.000	C
DGCR8	54487	genome.wustl.edu	37	22	20077689	20077689	+	Missense_Mutation	SNP	C	C	T	rs560910865		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:20077689C>T	ENST00000351989.3	+	5	1643	c.1214C>T	c.(1213-1215)cCg>cTg	p.P405L	DGCR8_ENST00000383024.2_Missense_Mutation_p.P405L|DGCR8_ENST00000407755.1_Missense_Mutation_p.P405L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	405	Necessary for heme-binding and pri-miRNA processing.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CCGGGGCCCCCGGACGAGAAA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		15603	0.001		0.0	False		,,,				2504	0.0																0													51.0	60.0	57.0					22																	20077689		2203	4300	6503	SO:0001583	missense	0			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1214C>T	22.37:g.20077689C>T	ENSP00000263209:p.Pro405Leu		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom	p.P405L	ENST00000351989.3	37	c.1214	CCDS13773.1	22	.	.	.	.	.	.	.	.	.	.	C	4.741	0.137751	0.09032	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.28454	1.61;1.61;1.61	5.14	-0.923	0.10465	.	1.182020	0.05757	N	0.604246	T	0.18130	0.0435	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25572	-1.0128	10	0.25106	T	0.35	1.2984	4.5223	0.11964	0.1507:0.4035:0.0:0.4459	.	405;405	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	L	405	ENSP00000263209:P405L;ENSP00000372488:P405L;ENSP00000384726:P405L	ENSP00000263209:P405L	P	+	2	0	DGCR8	18457689	0.000000	0.05858	0.004000	0.12327	0.295000	0.27426	-0.210000	0.09345	0.038000	0.15604	0.467000	0.42956	CCG	DGCR8	-	NULL	ENSG00000128191		0.627	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1	-	0.00	13	0	C			20077689	+1	tier1	-	no_errors	ENST00000351989	ensembl	human	known	74_37	missense	53.12	15	17	SNP	0.000	T
DGCR6L	85359	genome.wustl.edu	37	22	20303643	20303643	+	Splice_Site	SNP	T	T	A	rs575784275		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:20303643T>A	ENST00000248879.3	-	3	462	c.371A>T	c.(370-372)gAg>gTg	p.E124V	DGCR6L_ENST00000405465.3_Intron|XXbac-B444P24.13_ENST00000608275.1_RNA	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	124						nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					CCCCAGTACCTCTAGTTCTCG	0.692																																																	0													23.0	25.0	24.0					22																	20303643		2201	4297	6498	SO:0001630	splice_region_variant	0			AF228708	CCDS13778.1	22q11.21	2013-02-19			ENSG00000128185	ENSG00000128185			18551	protein-coding gene	gene with protein product		609459				11157784	Standard	NM_033257		Approved	FLJ10666	uc002zrx.3	Q9BY27	OTTHUMG00000150583	ENST00000248879.3:c.372+1A>T	22.37:g.20303643T>A			A8K1N7|B3KMC0|D3DX29|Q9BW33	Missense_Mutation	SNP	pfam_DGCR6	p.E124V	ENST00000248879.3	37	c.371	CCDS13778.1	22	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711556	0.30322	.	.	ENSG00000128185	ENST00000248879	T	0.34275	1.37	1.98	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.52629	0.1746	M	0.75447	2.3	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.76071	0.939;0.987	T	0.50363	-0.8837	10	0.36615	T	0.2	-20.2461	7.9455	0.29985	0.0:0.0:0.0:1.0	.	124;124	B3KMC0;Q9BY27	.;DGC6L_HUMAN	V	124	ENSP00000248879:E124V	ENSP00000248879:E124V	E	-	2	0	DGCR6L	18683643	1.000000	0.71417	0.949000	0.38748	0.496000	0.33645	3.339000	0.52135	1.185000	0.42971	0.254000	0.18369	GAG	DGCR6L	-	pfam_DGCR6	ENSG00000128185		0.692	DGCR6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6L	HGNC	protein_coding	OTTHUMT00000318970.3	-	0.00	78	0	T	NM_033257	Missense_Mutation	20303643	-1	tier1	-	no_errors	ENST00000248879	ensembl	human	known	74_37	missense	33.59	84	43	SNP	1.000	A
DGKD	8527	genome.wustl.edu	37	2	234294806	234294806	+	Intron	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:234294806delT	ENST00000264057.2	+	2	168				DGKD_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA|DGKD_ENST00000409813.3_5'Flank	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGGTTTTGTCTTTTTTTTTTT	0.408																																																	0																																										SO:0001627	intron_variant	0			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.157-2097T>-	2.37:g.234294806delT			Q14158|Q6PK55|Q8NG53	RNA	DEL	-	NULL	ENST00000264057.2	37	NULL	CCDS2504.1	2																																																																																			DGKD	-	-	ENSG00000077044		0.408	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2		0.00	22	0	T	NM_003648		234294806	+1	tier1		no_errors	ENST00000489613	ensembl	human	putative	74_37	rna	31.71	28	13	DEL	0.000	-
DIAPH1	1729	genome.wustl.edu	37	5	140953564	140953566	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140953564_140953566delGGA	ENST00000398557.4	-	16	1991_1993	c.1851_1853delTCC	c.(1849-1854)cctcca>cca	p.617_618PP>P	DIAPH1_ENST00000389054.3_In_Frame_Del_p.617_618PP>P|DIAPH1_ENST00000398562.2_In_Frame_Del_p.608_609PP>P|DIAPH1_ENST00000518047.1_In_Frame_Del_p.608_609PP>P|DIAPH1_ENST00000520569.1_In_Frame_Del_p.563_564PP>P|DIAPH1_ENST00000389057.5_In_Frame_Del_p.608_609PP>P|DIAPH1_ENST00000253811.6_In_Frame_Del_p.617_618PP>P|DIAPH1_ENST00000398566.3_In_Frame_Del_p.608_609PP>P	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	617	FH1.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAaggaggtggaggaggaggag	0.576																																																	0																																										SO:0001651	inframe_deletion	0			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1851_1853delTCC	5.37:g.140953573_140953575delGGA	ENSP00000381565:p.Pro620del		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	In_Frame_Del	DEL	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.P620in_frame_del	ENST00000398557.4	37	c.1853_1851	CCDS43374.1	5																																																																																			DIAPH1	-	pfam_Formin_homology_1	ENSG00000131504		0.576	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	DIAPH1	HGNC	protein_coding			0.00	10	0	GGA	NM_005219		140953566	-1	tier1		no_errors	ENST00000253811	ensembl	human	known	74_37	in_frame_del	18.75	13	3	DEL	0.010:0.008:0.007	-
DIDO1	11083	genome.wustl.edu	37	20	61524253	61524253	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:61524253T>C	ENST00000266070.4	-	13	3488	c.3163A>G	c.(3163-3165)Acc>Gcc	p.T1055A	DIDO1_ENST00000395343.1_Missense_Mutation_p.T1055A|DIDO1_ENST00000395335.2_Missense_Mutation_p.T1055A|DIDO1_ENST00000395340.1_Missense_Mutation_p.T1055A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1055					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTCCAAATGGTGCTGAGTCGA	0.423																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													128.0	113.0	118.0					20																	61524253		2203	4300	6503	SO:0001583	missense	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3163A>G	20.37:g.61524253T>C	ENSP00000266070:p.Thr1055Ala		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.T1055A	ENST00000266070.4	37	c.3163	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	T	13.22	2.171560	0.38315	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.12039	3.08;3.08;2.72;2.72	5.88	3.64	0.41730	.	0.000000	0.42964	U	0.000629	T	0.12987	0.0315	M	0.64997	1.995	0.80722	D	1	B;B	0.14438	0.01;0.003	B;B	0.12156	0.006;0.007	T	0.10200	-1.0640	10	0.21540	T	0.41	-30.0915	6.1928	0.20534	0.0:0.1374:0.1352:0.7273	.	1055;1055	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	A	1055	ENSP00000266070:T1055A;ENSP00000378752:T1055A;ENSP00000378749:T1055A;ENSP00000378744:T1055A	ENSP00000266070:T1055A	T	-	1	0	DIDO1	60994698	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.964000	0.56780	0.493000	0.27837	0.482000	0.46254	ACC	DIDO1	-	NULL	ENSG00000101191		0.423	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0.00	54	0	T	NM_080796		61524253	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	missense	39.13	42	27	SNP	1.000	C
DIS3L2	129563	genome.wustl.edu	37	2	232995570	232995570	+	3'UTR	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:232995570delA	ENST00000409401.3	+	0	1018				DIS3L2_ENST00000325385.7_Intron|DIS3L2_ENST00000409307.1_Intron|DIS3L2_ENST00000360410.4_Intron|DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000470087.1_3'UTR	NM_001257282.1	NP_001244211.1			DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		aaagtgaattaaaaaaaaaaa	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409401.3:c.*93A>-	2.37:g.232995570delA				RNA	DEL	-	NULL	ENST00000409401.3	37	NULL	CCDS58753.1	2																																																																																			DIS3L2	-	-	ENSG00000144535		0.353	DIS3L2-003	KNOWN	basic|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330976.1		0.00	10	0	A	NM_152383		232995570	+1	tier1		no_errors	ENST00000470087	ensembl	human	known	74_37	rna	31.25	11	5	DEL	0.000	-
DLC1	10395	genome.wustl.edu	37	8	12957055	12957055	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:12957055C>T	ENST00000276297.4	-	9	3200	c.2791G>A	c.(2791-2793)Gga>Aga	p.G931R	DLC1_ENST00000520226.1_Missense_Mutation_p.G420R|DLC1_ENST00000512044.2_Missense_Mutation_p.G528R|DLC1_ENST00000358919.2_Missense_Mutation_p.G494R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	931					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCGAATCTCCCTCATCAGAA	0.567																																																	0													105.0	95.0	99.0					8																	12957055		2203	4300	6503	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2791G>A	8.37:g.12957055C>T	ENSP00000276297:p.Gly931Arg		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.G931R	ENST00000276297.4	37	c.2791	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074916	0.76415	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06768	3.51;3.28;3.27;3.26	5.43	5.43	0.79202	.	0.160225	0.56097	D	0.000037	T	0.28366	0.0701	M	0.62723	1.935	0.80722	D	1	D;P;D	0.89917	1.0;0.781;1.0	D;B;D	0.97110	0.994;0.334;1.0	T	0.00144	-1.1994	10	0.38643	T	0.18	.	19.6216	0.95658	0.0:1.0:0.0:0.0	.	931;528;494	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	R	931;494;528;420	ENSP00000276297:G931R;ENSP00000351797:G494R;ENSP00000422595:G528R;ENSP00000428028:G420R	ENSP00000276297:G931R	G	-	1	0	DLC1	13001426	1.000000	0.71417	0.977000	0.42913	0.883000	0.51084	7.815000	0.86186	2.717000	0.92951	0.655000	0.94253	GGA	DLC1	-	NULL	ENSG00000164741		0.567	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0.00	49	0	C	NM_182643, NM_006094		12957055	-1	tier1	-	no_errors	ENST00000276297	ensembl	human	known	74_37	missense	66.67	21	42	SNP	1.000	T
DLD	1738	genome.wustl.edu	37	7	107557313	107557313	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:107557313C>A	ENST00000205402.5	+	10	1231	c.950C>A	c.(949-951)cCc>cAc	p.P317H	DLD_ENST00000437604.2_Missense_Mutation_p.P269H|DLD_ENST00000440410.1_Missense_Mutation_p.P294H|DLD_ENST00000537148.1_Missense_Mutation_p.P218H	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	317					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	GGCCGACGACCCTTTACTAAG	0.383																																																	0													149.0	145.0	146.0					7																	107557313		2203	4300	6503	SO:0001583	missense	0			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.950C>A	7.37:g.107557313C>A	ENSP00000205402:p.Pro317His		B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH	p.P317H	ENST00000205402.5	37	c.950	CCDS5749.1	7	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459853	0.84317	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;D;T;D	0.82526	-0.35;-0.35;-1.51;-0.35;-1.62	5.7	4.81	0.61882	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	H	0.99286	4.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.97352	0.9964	10	0.87932	D	0	-0.1693	16.01	0.80396	0.1356:0.8644:0.0:0.0	.	294;269;317	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	H	317;317;218;294;269;267	ENSP00000205402:P317H;ENSP00000390667:P317H;ENSP00000442399:P218H;ENSP00000417016:P294H;ENSP00000387542:P269H	ENSP00000205402:P317H	P	+	2	0	DLD	107344549	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.378000	0.79679	1.392000	0.46585	0.460000	0.39030	CCC	DLD	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Lipoamide_DH	ENSG00000091140		0.383	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLD	HGNC	protein_coding	OTTHUMT00000337194.3	-	0.00	55	0	C	NM_000108		107557313	+1	tier1	-	no_errors	ENST00000205402	ensembl	human	known	74_37	missense	21.79	122	34	SNP	1.000	A
DLG2	1740	genome.wustl.edu	37	11	84996271	84996271	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:84996271G>A	ENST00000376104.2	-	4	490	c.179C>T	c.(178-180)tCt>tTt	p.S60F	DLG2_ENST00000543673.1_Missense_Mutation_p.S60F	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TACCTCTGAAGATTTTTGAAG	0.368																																																	0													194.0	174.0	180.0					11																	84996271		1568	3581	5149	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376104.2:c.179C>T	11.37:g.84996271G>A	ENSP00000365272:p.Ser60Phe		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.S60F	ENST00000376104.2	37	c.179	CCDS44690.1	11	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674250	0.29693	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	T;T	0.16196	2.36;2.36	5.89	0.562	0.17290	.	1.365360	0.04917	N	0.454271	T	0.14313	0.0346	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31971	-0.9924	9	.	.	.	.	2.6056	0.04878	0.2063:0.2257:0.4522:0.1158	.	60	Q15700-2	.	F	60	ENSP00000365272:S60F;ENSP00000441994:S60F	.	S	-	2	0	DLG2	84673919	0.073000	0.21202	0.000000	0.03702	0.185000	0.23345	0.551000	0.23361	0.057000	0.16193	-0.165000	0.13383	TCT	DLG2	-	pirsf_M-assoc_guanylate_kinase	ENSG00000150672		0.368	DLG2-003	KNOWN	basic|CCDS	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259245.3	-	0.00	57	0	G	NM_001364		84996271	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	41.11	53	37	SNP	0.001	A
DLG5	9231	genome.wustl.edu	37	10	79579660	79579660	+	Silent	SNP	C	C	T	rs374398523		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:79579660C>T	ENST00000372391.2	-	16	3524	c.3519G>A	c.(3517-3519)ccG>ccA	p.P1173P	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.P833P	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1173					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CACCCACAGACGGCCTGCTAG	0.647																																																	0								C		3,4403		0,3,2200	70.0	79.0	76.0		3519	-11.5	0.1	10		76	0,8596		0,0,4298	no	coding-synonymous	DLG5	NM_004747.3		0,3,6498	TT,TC,CC		0.0,0.0681,0.0231		1173/1920	79579660	3,12999	2203	4298	6501	SO:0001819	synonymous_variant	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3519G>A	10.37:g.79579660C>T			A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.P1173	ENST00000372391.2	37	c.3519	CCDS7353.2	10																																																																																			DLG5	-	NULL	ENSG00000151208		0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	-	0.00	37	0	C			79579660	-1	tier1	-	no_errors	ENST00000372391	ensembl	human	known	74_37	silent	14.63	35	6	SNP	0.069	T
DLGAP1	9229	genome.wustl.edu	37	18	3534565	3534565	+	Silent	SNP	G	G	A	rs373443663		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:3534565G>A	ENST00000315677.3	-	10	2701	c.2106C>T	c.(2104-2106)gcC>gcT	p.A702A	DLGAP1_ENST00000584874.1_Silent_p.A702A|DLGAP1_ENST00000515196.2_Silent_p.A702A|DLGAP1_ENST00000581527.1_Silent_p.A702A|DLGAP1_ENST00000539435.1_Silent_p.A410A|DLGAP1_ENST00000581699.1_Silent_p.A408A|DLGAP1_ENST00000400150.3_Silent_p.A418A|DLGAP1_ENST00000400147.2_Silent_p.A400A|DLGAP1_ENST00000400149.3_Silent_p.A392A|DLGAP1_ENST00000534970.1_Silent_p.A386A|DLGAP1_ENST00000400155.1_Silent_p.A408A|DLGAP1_ENST00000400145.2_Silent_p.A400A	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	702					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGTCCAGGTCGGCCTGTACTG	0.468																																																	0								G	,,,,,,,	0,4406		0,0,2203	49.0	48.0	49.0		1200,2106,1158,1272,1224,1200,1230,2106	-9.1	1.0	18		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DLGAP1	NM_001003809.2,NM_001242761.1,NM_001242762.1,NM_001242763.1,NM_001242764.1,NM_001242765.1,NM_001242766.1,NM_004746.3	,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,	400/676,702/930,386/662,424/700,408/684,400/628,410/686,702/978	3534565	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2106C>T	18.37:g.3534565G>A			A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	pfam_GKAP	p.A702	ENST00000315677.3	37	c.2106	CCDS11836.1	18																																																																																			DLGAP1	-	pfam_GKAP	ENSG00000170579		0.468	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	-	0.00	11	0	G			3534565	-1	tier1	-	no_errors	ENST00000315677	ensembl	human	known	74_37	silent	51.85	13	14	SNP	0.415	A
DMTN	2039	genome.wustl.edu	37	8	21926552	21926552	+	Frame_Shift_Del	DEL	C	C	-	rs377647942		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:21926552delC	ENST00000523266.1	+	5	737	c.275delC	c.(274-276)tccfs	p.S92fs	DMTN_ENST00000517600.1_Intron|DMTN_ENST00000358242.3_Frame_Shift_Del_p.S92fs|DMTN_ENST00000523782.2_Frame_Shift_Del_p.S67fs|DMTN_ENST00000381470.3_Frame_Shift_Del_p.S92fs|DMTN_ENST00000265800.5_Frame_Shift_Del_p.S92fs|DMTN_ENST00000443491.2_Frame_Shift_Del_p.S67fs|DMTN_ENST00000415253.1_Frame_Shift_Del_p.S92fs|DMTN_ENST00000432128.1_Frame_Shift_Del_p.S92fs|DMTN_ENST00000519907.1_Frame_Shift_Del_p.S92fs	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	92					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										AAATCCACATCCCCCCCACCA	0.602																																																	0													137.0	117.0	124.0					8																	21926552		2203	4300	6503	SO:0001589	frameshift_variant	0			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.275delC	8.37:g.21926552delC	ENSP00000427866:p.Ser92fs		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Frame_Shift_Del	DEL	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.P94fs	ENST00000523266.1	37	c.275	CCDS6020.1	8																																																																																			DMTN	-	NULL	ENSG00000158856		0.602	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DMTN	HGNC	protein_coding	OTTHUMT00000375178.1		0.00	27	0	C	NM_001978		21926552	+1	tier1		no_errors	ENST00000265800	ensembl	human	known	74_37	frame_shift_del	50.00	13	13	DEL	1.000	-
DNAH1	25981	genome.wustl.edu	37	3	52397145	52397145	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:52397145G>T	ENST00000420323.2	+	32	5490	c.5229G>T	c.(5227-5229)gaG>gaT	p.E1743D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1743	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTCTTCTGAGCAGCTCAGCT	0.552																																																	0													105.0	103.0	104.0					3																	52397145		2018	4188	6206	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5229G>T	3.37:g.52397145G>T	ENSP00000401514:p.Glu1743Asp		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.E1743D	ENST00000420323.2	37	c.5229	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714117	0.68730	.	.	ENSG00000114841	ENST00000420323	T	0.13538	2.58	4.93	4.93	0.64822	.	0.000000	0.53938	D	0.000050	T	0.38878	0.1057	M	0.87180	2.865	0.48341	D	0.999635	D	0.89917	1.0	D	0.91635	0.999	T	0.30238	-0.9985	10	0.87932	D	0	.	8.3643	0.32378	0.2138:0.0:0.7862:0.0	.	1743	C9JXH6	.	D	1743	ENSP00000401514:E1743D	ENSP00000401514:E1743D	E	+	3	2	DNAH1	52372185	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.439000	0.35013	2.574000	0.86865	0.655000	0.94253	GAG	DNAH1	-	superfamily_P-loop_NTPase	ENSG00000114841		0.552	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	-	0.00	43	0	G	NM_015512		52397145	+1	tier1	-	no_errors	ENST00000420323	ensembl	human	known	74_37	missense	44.44	25	20	SNP	1.000	T
DNAH10	196385	genome.wustl.edu	37	12	124417966	124417966	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:124417966G>A	ENST00000409039.3	+	76	13056	c.13031G>A	c.(13030-13032)cGg>cAg	p.R4344Q	DNAH10OS_ENST00000514254.2_Intron|RP11-380L11.3_ENST00000602292.1_RNA|DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4344					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)		GCCACCTGCCGGAAGAACGGC	0.617																																																	0													33.0	35.0	35.0					12																	124417966		1976	4146	6122	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.13031G>A	12.37:g.124417966G>A	ENSP00000386770:p.Arg4344Gln		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.R4344Q	ENST00000409039.3	37	c.13031	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	36	5.867378	0.97043	.	.	ENSG00000197653	ENST00000409039	T	0.12361	2.69	5.18	5.18	0.71444	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66866	-0.5815	10	0.87932	D	0	.	18.3051	0.90177	0.0:0.0:1.0:0.0	.	4344	Q8IVF4	DYH10_HUMAN	Q	4344	ENSP00000386770:R4344Q	ENSP00000386770:R4344Q	R	+	2	0	DNAH10	122983919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.623000	0.98386	2.413000	0.81919	0.561000	0.74099	CGG	DNAH10	-	pfam_Dynein_heavy_dom	ENSG00000197653		0.617	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0.00	44	0	G			124417966	+1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	59.26	33	48	SNP	1.000	A
DNAH5	1767	genome.wustl.edu	37	5	13839629	13839629	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:13839629C>T	ENST00000265104.4	-	35	5822	c.5718G>A	c.(5716-5718)atG>atA	p.M1906I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1906	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTGATATGCATATGACACT	0.353									Kartagener syndrome																																								0													71.0	68.0	69.0					5																	13839629		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5718G>A	5.37:g.13839629C>T	ENSP00000265104:p.Met1906Ile		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.M1906I	ENST00000265104.4	37	c.5718	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481256	0.44147	.	.	ENSG00000039139	ENST00000265104	T	0.22743	1.94	4.93	4.93	0.64822	.	0.104213	0.64402	D	0.000006	T	0.26412	0.0645	M	0.64676	1.99	0.53688	D	0.999972	B	0.12013	0.005	B	0.19946	0.027	T	0.03761	-1.1006	10	0.35671	T	0.21	.	17.1545	0.86787	0.0:1.0:0.0:0.0	.	1906	Q8TE73	DYH5_HUMAN	I	1906	ENSP00000265104:M1906I	ENSP00000265104:M1906I	M	-	3	0	DNAH5	13892629	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	4.037000	0.57311	2.300000	0.77407	0.650000	0.86243	ATG	DNAH5	-	NULL	ENSG00000039139		0.353	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0.00	18	0	C	NM_001369		13839629	-1			no_errors	ENST00000265104	ensembl	human	known	74_37	missense	11.48	54	7	SNP	1.000	T
DNAJC19	131118	genome.wustl.edu	37	3	180705810	180705810	+	Splice_Site	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:180705810C>T	ENST00000382564.2	-	3	300		c.e3+1		DNAJC19_ENST00000491873.1_Splice_Site|DNAJC19_ENST00000486355.1_Splice_Site|DNAJC19_ENST00000479269.1_Splice_Site	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19						cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			CAAAGTCTTACAGATTTTGGT	0.368																																																	0													80.0	82.0	81.0					3																	180705810		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"""Heat shock proteins / DNAJ (HSP40)"""	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.129+1G>A	3.37:g.180705810C>T			B2R4B1|C9JBV1	Splice_Site	SNP	-	e3+1	ENST00000382564.2	37	c.129+1	CCDS33895.1	3	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228352	0.79576	.	.	ENSG00000205981	ENST00000382564;ENST00000491873;ENST00000479269	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8766	0.86053	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAJC19	182188504	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.085000	0.71343	2.716000	0.92895	0.655000	0.94253	.	DNAJC19	-	-	ENSG00000205981		0.368	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC19	HGNC	protein_coding	OTTHUMT00000350336.1	-	0.00	21	0	C	NM_145261	Intron	180705810	-1	tier1	-	no_errors	ENST00000382564	ensembl	human	known	74_37	splice_site	22.22	42	12	SNP	1.000	T
DNAJC2	27000	genome.wustl.edu	37	7	102964992	102964992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:102964992delT	ENST00000379263.3	-	6	840	c.590delA	c.(589-591)aatfs	p.N197fs	DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.N197fs|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	197	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTAGGAACATTTTTTTTATT	0.239																																																	0													54.0	54.0	54.0					7																	102964992		1782	4027	5809	SO:0001589	frameshift_variant	0			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.590delA	7.37:g.102964992delT	ENSP00000368565:p.Asn197fs		A4VCI0|Q9BVX1	Frame_Shift_Del	DEL	pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain	p.N197fs	ENST00000379263.3	37	c.590	CCDS43628.1	7																																																																																			DNAJC2	-	NULL	ENSG00000105821		0.239	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC2	HGNC	protein_coding	OTTHUMT00000347891.1		0.00	16	0	T			102964992	-1	tier1		no_errors	ENST00000379263	ensembl	human	known	74_37	frame_shift_del	30.95	29	13	DEL	1.000	-
DOCK1	1793	genome.wustl.edu	37	10	128841421	128841421	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:128841421G>A	ENST00000280333.6	+	21	2240	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	711					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGCAACGTTAGCCTACACGTA	0.308																																																	0													72.0	67.0	68.0					10																	128841421		1834	4071	5905	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2131G>A	10.37:g.128841421G>A	ENSP00000280333:p.Ala711Thr		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.A711T	ENST00000280333.6	37	c.2131		10	.	.	.	.	.	.	.	.	.	.	G	32	5.156479	0.94686	.	.	ENSG00000150760	ENST00000280333	T	0.67698	-0.28	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.83954	0.5366	M	0.92122	3.275	0.80722	D	1	P;P	0.49862	0.862;0.929	P;P	0.57620	0.824;0.645	D	0.88448	0.3047	10	0.87932	D	0	.	17.9189	0.88960	0.0:0.0:1.0:0.0	.	711;711	B2RUU3;Q14185	.;DOCK1_HUMAN	T	711	ENSP00000280333:A711T	ENSP00000280333:A711T	A	+	1	0	DOCK1	128731411	1.000000	0.71417	0.988000	0.46212	0.934000	0.57294	7.679000	0.84048	2.537000	0.85549	0.655000	0.94253	GCC	DOCK1	-	superfamily_ARM-type_fold	ENSG00000150760		0.308	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	-	0.00	34	0	G	NM_001380		128841421	+1	tier1	-	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	A
DOCK3	1795	genome.wustl.edu	37	3	51417604	51417604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:51417604delC	ENST00000266037.9	+	52	5572	c.5549delC	c.(5548-5550)accfs	p.T1850fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P1852fs*45(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTGGGTGATACCCCCCCAGCC	0.597																																																	1	Deletion - Frameshift(1)	large_intestine(1)											83.0	84.0	84.0					3																	51417604		1912	4118	6030	SO:0001589	frameshift_variant	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5549delC	3.37:g.51417604delC	ENSP00000266037:p.Thr1850fs		O15017	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.P1852fs	ENST00000266037.9	37	c.5549	CCDS46835.1	3																																																																																			DOCK3	-	NULL	ENSG00000088538		0.597	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5		0.00	43	0	C	NM_004947		51417604	+1	tier1		no_errors	ENST00000266037	ensembl	human	known	74_37	frame_shift_del	56.00	22	28	DEL	0.115	-
DOK1	1796	genome.wustl.edu	37	2	74782459	74782459	+	Frame_Shift_Del	DEL	C	C	-	rs200525020		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:74782459delC	ENST00000233668.5	+	2	908	c.239delC	c.(238-240)accfs	p.T80fs	DOK1_ENST00000480318.1_3'UTR|LOXL3_ENST00000409986.1_5'Flank|LOXL3_ENST00000409249.1_5'Flank|DOK1_ENST00000340004.6_Frame_Shift_Del_p.T80fs|LOXL3_ENST00000393937.2_5'Flank|M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000484369.1_5'Flank|DOK1_ENST00000409429.1_5'UTR|LOXL3_ENST00000409549.1_5'Flank|LOXL3_ENST00000264094.3_5'Flank	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	80	PH.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)	p.E83fs*1(1)		endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACCGTGGAGACCCCCCCTGAG	0.716																																					Esophageal Squamous(36;520 860 12502 33616 51270)												1	Insertion - Frameshift(1)	large_intestine(1)											49.0	47.0	48.0					2																	74782459		2203	4299	6502	SO:0001589	frameshift_variant	0			U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.239delC	2.37:g.74782459delC	ENSP00000233668:p.Thr80fs		O43204|Q53TY2|Q9UHG6	Frame_Shift_Del	DEL	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.P82fs	ENST00000233668.5	37	c.239	CCDS1954.1	2																																																																																			DOK1	-	smart_Pleckstrin_homology	ENSG00000115325		0.716	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK1	HGNC	protein_coding	OTTHUMT00000252218.3		0.00	45	0	C	NM_001381		74782459	+1	tier1		no_errors	ENST00000233668	ensembl	human	known	74_37	frame_shift_del	33.08	89	44	DEL	1.000	-
DOPEY1	23033	genome.wustl.edu	37	6	83819909	83819909	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:83819909delG	ENST00000349129.2	+	6	817	c.557delG	c.(556-558)tggfs	p.W186fs	DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.W186fs|DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.W186fs|DOPEY1_ENST00000536812.1_Frame_Shift_Del_p.W186fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	186					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGTGCCCTGTGGGGTAGTCTT	0.423																																																	0													165.0	147.0	153.0					6																	83819909		2203	4300	6503	SO:0001589	frameshift_variant	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.557delG	6.37:g.83819909delG	ENSP00000195654:p.Trp186fs		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Frame_Shift_Del	DEL	pfam_Dopey_N,superfamily_ARM-type_fold	p.G187fs	ENST00000349129.2	37	c.557	CCDS4996.1	6																																																																																			DOPEY1	-	pfam_Dopey_N,superfamily_ARM-type_fold	ENSG00000083097		0.423	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2		0.00	52	0	G	NM_015018		83819909	+1	tier1		no_errors	ENST00000349129	ensembl	human	known	74_37	frame_shift_del	45.71	38	32	DEL	1.000	-
DROSHA	29102	genome.wustl.edu	37	5	31431690	31431690	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:31431690C>T	ENST00000511367.2	-	25	3382	c.3138G>A	c.(3136-3138)gcG>gcA	p.A1046A	DROSHA_ENST00000344624.3_Silent_p.A1046A|DROSHA_ENST00000442743.1_Silent_p.A1009A|DROSHA_ENST00000513349.1_Silent_p.A1009A	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1046	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TACCTATTAACGCTTCAAAAC	0.403																																																	0													110.0	102.0	105.0					5																	31431690		1877	4105	5982	SO:0001819	synonymous_variant	0			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3138G>A	5.37:g.31431690C>T			E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.A1046	ENST00000511367.2	37	c.3138	CCDS47195.1	5																																																																																			DROSHA	-	pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom	ENSG00000113360		0.403	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	-	0.00	28	0	C	NM_013235		31431690	-1	tier1	-	no_errors	ENST00000344624	ensembl	human	known	74_37	silent	9.09	70	7	SNP	0.247	T
DST	667	genome.wustl.edu	37	6	56335022	56335022	+	Silent	SNP	G	G	A	rs545772116		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:56335022G>A	ENST00000361203.3	-	91	21427	c.21420C>T	c.(21418-21420)ggC>ggT	p.G7140G	DST_ENST00000244364.6_Silent_p.G4837G|DST_ENST00000370788.2_Silent_p.G5054G|DST_ENST00000370754.5_Silent_p.G7429G|DST_ENST00000446842.2_Silent_p.G6925G|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.G7251G|DST_ENST00000421834.2_Silent_p.G5136G			Q03001	DYST_HUMAN	dystonin	7249					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATATCCATCGCCATCTCTGT	0.398																																																	0													86.0	79.0	82.0					6																	56335022		1900	4126	6026	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21420C>T	6.37:g.56335022G>A			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.G7429	ENST00000361203.3	37	c.22287		6																																																																																			DST	-	superfamily_ABC1_TM_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000151914		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0.00	37	0	G	NM_001723		56335022	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.916	A
DTX2	113878	genome.wustl.edu	37	7	76131626	76131626	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:76131626C>T	ENST00000324432.5	+	9	1752	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	DTX2_ENST00000446820.2_Silent_p.I367I|DTX2_ENST00000446600.1_Silent_p.I323I|DTX2_ENST00000430490.2_Silent_p.I414I|DTX2_ENST00000307569.8_Silent_p.I367I|DTX2_ENST00000413936.2_Silent_p.I414I	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	414					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						ACTGCATCATCTGCATGGAGA	0.567																																																	0													72.0	58.0	63.0					7																	76131626		2201	4285	6486	SO:0001819	synonymous_variant	0				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1242C>T	7.37:g.76131626C>T			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.I414	ENST00000324432.5	37	c.1242	CCDS5587.1	7																																																																																			DTX2	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000091073		0.567	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2	-	0.00	52	0	C			76131626	+1	tier1	-	no_errors	ENST00000324432	ensembl	human	known	74_37	silent	36.54	66	38	SNP	1.000	T
DUPD1	338599	genome.wustl.edu	37	10	76803696	76803696	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:76803696C>T	ENST00000338487.5	-	2	279	c.280G>A	c.(280-282)Gtg>Atg	p.V94M		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	94	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCAGTGTCCACGTTCCAGCGG	0.657																																																	0													76.0	72.0	73.0					10																	76803696		2203	4300	6503	SO:0001583	missense	0				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.280G>A	10.37:g.76803696C>T	ENSP00000340609:p.Val94Met		B2RP93	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP	p.V94M	ENST00000338487.5	37	c.280	CCDS31223.1	10	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688846	0.88639	.	.	ENSG00000188716	ENST00000338487	T	0.61392	0.11	4.83	4.83	0.62350	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.77136	0.4086	M	0.79614	2.46	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.81187	-0.1047	10	0.87932	D	0	-29.5424	17.9113	0.88934	0.0:1.0:0.0:0.0	.	94	Q68J44	DUPD1_HUMAN	M	94	ENSP00000340609:V94M	ENSP00000340609:V94M	V	-	1	0	DUPD1	76473702	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.706000	0.68362	2.204000	0.70986	0.650000	0.86243	GTG	DUPD1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000188716		0.657	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUPD1	HGNC	protein_coding	OTTHUMT00000048777.2	-	0.00	28	0	C	XM_291741		76803696	-1	tier1	-	no_errors	ENST00000338487	ensembl	human	known	74_37	missense	19.44	58	14	SNP	1.000	T
DUS2	54920	genome.wustl.edu	37	16	68088489	68088489	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:68088489G>A	ENST00000565263.1	+	6	771	c.277G>A	c.(277-279)Gca>Aca	p.A93T	DUS2_ENST00000432752.1_Intron|AC130462.1_ENST00000408862.1_RNA|DUS2_ENST00000358896.6_Missense_Mutation_p.A93T	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	93					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										GACTTCAGACGCAGAGCGAGC	0.527																																																	0													243.0	194.0	211.0					16																	68088489		2198	4300	6498	SO:0001583	missense	0				CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.277G>A	16.37:g.68088489G>A	ENSP00000455229:p.Ala93Thr		A8K3G3|Q4H4D9	Missense_Mutation	SNP	pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom	p.A93T	ENST00000565263.1	37	c.277	CCDS10859.1	16	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547420	0.45383	.	.	ENSG00000167264	ENST00000358896	T	0.31247	1.5	5.72	4.76	0.60689	Aldolase-type TIM barrel (1);	0.067164	0.64402	D	0.000013	T	0.46014	0.1371	M	0.66439	2.03	0.80722	D	1	P	0.52463	0.953	P	0.53649	0.731	T	0.49293	-0.8955	10	0.66056	D	0.02	-37.4225	14.0972	0.65029	0.0:0.1506:0.8494:0.0	.	93	Q9NX74	DUS2L_HUMAN	T	93	ENSP00000351769:A93T	ENSP00000351769:A93T	A	+	1	0	DUS2L	66645990	1.000000	0.71417	0.986000	0.45419	0.949000	0.60115	5.508000	0.67006	1.409000	0.46915	0.650000	0.86243	GCA	DUS2	-	pfam_tRNA_hU_synthase	ENSG00000167264		0.527	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS2	HGNC	protein_coding	OTTHUMT00000268869.2	-	0.00	95	0	G	NM_017803		68088489	+1	tier1	-	no_errors	ENST00000358896	ensembl	human	known	74_37	missense	12.50	217	31	SNP	0.999	A
DUSP10	11221	genome.wustl.edu	37	1	221874930	221874932	+	3'UTR	DEL	AAA	AAA	-	rs78552579		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:221874930_221874932delAAA	ENST00000366899.3	-	0	2509_2511				DUSP10_ENST00000544095.1_3'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_3'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		ATCAAATCAGAAAAAAAAAAAAA	0.261																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.*824TTT>-	1.37:g.221874939_221874941delAAA			D3DTB4|Q6GSI4|Q9H9Z5	RNA	DEL	-	NULL	ENST00000366899.3	37	NULL	CCDS1528.1	1																																																																																			DUSP10	-	-	ENSG00000143507		0.261	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1		0.00	12	0	AAA	NM_007207		221874932	-1	tier1		no_errors	ENST00000468085	ensembl	human	known	74_37	rna	40.00	9	6	DEL	0.966:0.957:0.948	-
DUSP10	11221	genome.wustl.edu	37	1	221875662	221875662	+	3'UTR	DEL	A	A	-	rs3215279		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:221875662delA	ENST00000366899.3	-	0	1779				DUSP10_ENST00000544095.1_3'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_3'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCCCAACTACAAAAAAAAAAA	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.*92T>-	1.37:g.221875662delA			D3DTB4|Q6GSI4|Q9H9Z5	RNA	DEL	-	NULL	ENST00000366899.3	37	NULL	CCDS1528.1	1																																																																																			DUSP10	-	-	ENSG00000143507		0.348	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1		0.00	23	0	A	NM_007207		221875662	-1	tier1		no_errors	ENST00000468085	ensembl	human	known	74_37	rna	50.00	11	11	DEL	0.040	-
DUSP26	78986	genome.wustl.edu	37	8	33449611	33449611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:33449611G>A	ENST00000256261.4	-	4	1073	c.556C>T	c.(556-558)Cga>Tga	p.R186*	DUSP26_ENST00000523956.1_Nonsense_Mutation_p.R186*	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	186	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		ATGATGCCTCGGTGGTCTTTG	0.637																																																	0													102.0	91.0	95.0					8																	33449611		2203	4300	6503	SO:0001587	stop_gained	0			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.556C>T	8.37:g.33449611G>A	ENSP00000256261:p.Arg186*		D3DSV8|Q9BTW0	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP	p.R186*	ENST00000256261.4	37	c.556	CCDS6092.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.510039	0.98843	.	.	ENSG00000133878	ENST00000256261;ENST00000523956	.	.	.	4.8	3.91	0.45181	.	0.190357	0.46145	D	0.000303	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2403	12.3135	0.54942	0.0:0.0:0.6939:0.3061	.	.	.	.	X	186	.	ENSP00000256261:R186X	R	-	1	2	DUSP26	33569153	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.128000	0.50492	1.127000	0.42034	0.549000	0.68633	CGA	DUSP26	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000133878		0.637	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP26	HGNC	protein_coding	OTTHUMT00000376564.1	-	0.00	43	0	G	NM_024025		33449611	-1	tier1	-	no_errors	ENST00000256261	ensembl	human	known	74_37	nonsense	60.00	22	33	SNP	1.000	A
DZIP1L	199221	genome.wustl.edu	37	3	137811298	137811299	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:137811298_137811299insC	ENST00000327532.2	-	5	1158_1159	c.796_797insG	c.(796-798)gaafs	p.E266fs	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Frame_Shift_Ins_p.E266fs	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	266					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TTTATCTATTTCCCCATAAAGT	0.342																																																	0																																										SO:0001589	frameshift_variant	0			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.797dupG	3.37:g.137811302_137811302dupC	ENSP00000332148:p.Glu266fs		C9JUG5|Q96M38	Frame_Shift_Ins	INS	pfscan_Znf_C2H2	p.E266fs	ENST00000327532.2	37	c.797_796	CCDS3096.1	3																																																																																			DZIP1L	-	NULL	ENSG00000158163		0.342	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1		0.00	34	0	-	NM_173543		137811299	-1	tier1		no_errors	ENST00000327532	ensembl	human	known	74_37	frame_shift_ins	31.82	30	14	INS	1.000:0.998	C
E2F4	1874	genome.wustl.edu	37	16	67229794	67229796	+	In_Frame_Del	DEL	CAG	CAG	-	rs3830472|rs562856782		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:67229794_67229796delCAG	ENST00000379378.3	+	7	977_979	c.918_920delCAG	c.(916-921)gacagc>gac	p.S319del		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	319	Poly-Ser.		S -> SSSS.		blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S319_N320insS(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CCCTGCTGGAcagcagcagcagc	0.601																																																	1	Insertion - In frame(1)	breast(1)																																								SO:0001651	inframe_deletion	0			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.918_920delCAG	16.37:g.67229803_67229805delCAG	ENSP00000368686:p.Ser319del		A6NGR8|B5BU56|Q12991|Q15328	In_Frame_Del	DEL	pfam_E2F_TDP	p.S310in_frame_del	ENST00000379378.3	37	c.918_920	CCDS32464.1	16																																																																																			E2F4	-	NULL	ENSG00000205250		0.601	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	HGNC	protein_coding	OTTHUMT00000421565.1		0.00	37	0	CAG	NM_001950		67229796	+1	tier1		no_errors	ENST00000379378	ensembl	human	known	74_37	in_frame_del	17.93	119	26	DEL	0.995:0.995:0.995	-
EAF1	85403	genome.wustl.edu	37	3	15480599	15480599	+	Intron	DEL	T	T	-	rs199579790		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:15480599delT	ENST00000396842.2	+	6	1185				EAF1-AS1_ENST00000593876.1_RNA|EAF1-AS1_ENST00000597949.1_RNA|EAF1-AS1_ENST00000599742.1_RNA|EAF1-AS1_ENST00000608780.1_RNA|EAF1-AS1_ENST00000610011.1_RNA|EAF1-AS1_ENST00000609310.1_RNA|EAF1-AS1_ENST00000594820.1_RNA|EAF1-AS1_ENST00000595975.1_RNA|EAF1-AS1_ENST00000596371.1_RNA|EAF1-AS1_ENST00000595627.1_RNA|EAF1_ENST00000432764.2_Intron|EAF1-AS1_ENST00000494875.3_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ELL-EAF complex (GO:0032783)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						TTTTACTTTATTTTTTTTTTT	0.323																																																	0										7,15,4242|7,26,4231		3,0,1,1,13,2114|0,0,7,4,18,2103	42.0	45.0	44.0			0.5|0.2	0.0|0.0	3		43|44	18,2,8234|29,29,8196		9,0,0,0,2,4116|0,0,29,8,13,4077	no|no	intron|intron	EAF1|EAF1	NM_033083.6|NM_033083.6		12,0,1,1,15,6230|0,0,36,12,31,6180	A1A1,A1A2,A1R,A2A2,A2R,RR|A1A1,A1A2,A1R,A2A2,A2R,RR		0.2423,0.5159,0.3355|0.7027,0.7739,0.727			15480599	25,17,12476|36,55,12427	2202	4300	6502	SO:0001627	intron_variant	0			AF272973	CCDS2626.1	3p25.1	2011-06-10			ENSG00000144597	ENSG00000144597			20907	protein-coding gene	gene with protein product		608315				11418481	Standard	NM_033083		Approved		uc003bzu.3	Q96JC9	OTTHUMG00000162544	ENST00000396842.2:c.761-17T>-	3.37:g.15480599delT			B4E3F5|Q8IW10	RNA	DEL	-	NULL	ENST00000396842.2	37	NULL	CCDS2626.1	3																																																																																			EAF1-AS1	-	-	ENSG00000249786		0.323	EAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAF1-AS1	HGNC	protein_coding	OTTHUMT00000252100.4		0.00	26	0	T	NM_033083		15480599	-1	tier1		no_errors	ENST00000494875	ensembl	human	known	74_37	rna	26.47	25	9	DEL	0.925	-
EBPL	84650	genome.wustl.edu	37	13	50235209	50235209	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:50235209delA	ENST00000242827.6	-	4	566	c.516delT	c.(514-516)tttfs	p.F172fs	EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_Stop_Codon_Del	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	172					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.F172fs*7(1)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		ACACACCGTTAAAAAAAAACA	0.483																																					NSCLC(39;857 1083 36109 42364 51411)												1	Deletion - Frameshift(1)	ovary(1)								2,15,4247		0,0,2,0,15,2115	58.0	56.0	57.0			5.6	1.0	13		59	9,28,8217		0,0,9,2,24,4092	no	codingComplex	EBPL	NM_032565.3		0,0,11,2,39,6207	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4483,0.3987,0.4314			50235209	11,43,12464	2203	4300	6503	SO:0001589	frameshift_variant	0			AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.516delT	13.37:g.50235209delA	ENSP00000242827:p.Phe172fs		A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Frame_Shift_Del	DEL	pfam_EBP	p.F172fs	ENST00000242827.6	37	c.516	CCDS9420.1	13																																																																																			EBPL	-	pfam_EBP	ENSG00000123179		0.483	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EBPL	HGNC	protein_coding	OTTHUMT00000044932.2		0.00	36	0	A	NM_032565		50235209	-1	tier1		no_errors	ENST00000242827	ensembl	human	known	74_37	frame_shift_del	21.43	33	9	DEL	0.997	-
EDC4	23644	genome.wustl.edu	37	16	67916729	67916729	+	Missense_Mutation	SNP	G	G	A	rs543342658		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:67916729G>A	ENST00000358933.5	+	26	3829	c.3590G>A	c.(3589-3591)cGt>cAt	p.R1197H	CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000339176.3_5'Flank|NRN1L_ENST00000576147.1_5'Flank	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1197					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCAGTGTTCGTGCTGAGGTG	0.652											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													55.0	52.0	53.0					16																	67916729		2198	4300	6498	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.3590G>A	16.37:g.67916729G>A	ENSP00000351811:p.Arg1197His	1103	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1197H	ENST00000358933.5	37	c.3590	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144427	0.57044	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.74	5.74	0.90152	.	0.105601	0.64402	D	0.000003	T	0.44993	0.1320	L	0.31926	0.97	0.40470	D	0.980332	B	0.19073	0.033	B	0.08055	0.003	T	0.35051	-0.9804	9	0.33141	T	0.24	-29.4967	11.2818	0.49199	0.1146:0.0:0.8854:0.0	.	1197	Q6P2E9	EDC4_HUMAN	H	1197	.	ENSP00000351811:R1197H	R	+	2	0	EDC4	66474230	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.480000	0.81109	2.722000	0.93159	0.591000	0.81541	CGT	EDC4	-	NULL	ENSG00000038358		0.652	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	-	0.00	43	0	G	NM_014329		67916729	+1	tier1	-	no_errors	ENST00000358933	ensembl	human	known	74_37	missense	9.72	130	14	SNP	1.000	A
EDIL3	10085	genome.wustl.edu	37	5	83239319	83239319	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:83239319T>C	ENST00000296591.5	-	11	1780	c.1362A>G	c.(1360-1362)cgA>cgG	p.R454R	EDIL3_ENST00000380138.3_Silent_p.R444R	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	454	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTCTTATGTGTCGTGCATAGA	0.468																																																	0													166.0	152.0	156.0					5																	83239319		2203	4300	6503	SO:0001819	synonymous_variant	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1362A>G	5.37:g.83239319T>C			B2R763|O43855|Q5D094|Q8N610	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R454	ENST00000296591.5	37	c.1362	CCDS4062.1	5																																																																																			EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164176		0.468	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	-	0.00	72	0	T	NM_005711		83239319	-1	tier1	-	no_errors	ENST00000296591	ensembl	human	known	74_37	silent	27.08	35	13	SNP	0.983	C
EEF2	1938	genome.wustl.edu	37	19	3984216	3984216	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:3984216T>C	ENST00000309311.6	-	2	224	c.136A>G	c.(136-138)Atc>Gtc	p.I46V	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	46	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGAGGCGATGATGCCCGCC	0.612																																					Colon(165;1804 1908 4071 6587 18799)												0													148.0	135.0	139.0					19																	3984216		2203	4300	6503	SO:0001583	missense	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.136A>G	19.37:g.3984216T>C	ENSP00000307940:p.Ile46Val		B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.I46V	ENST00000309311.6	37	c.136	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946827	0.53186	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.78246	-1.16	5.34	5.34	0.76211	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.84629	0.5514	L	0.48986	1.54	0.80722	D	1	P	0.47604	0.898	D	0.68192	0.956	D	0.85547	0.1219	10	0.59425	D	0.04	-37.7705	14.489	0.67637	0.0:0.0:0.0:1.0	.	46	P13639	EF2_HUMAN	V	46	ENSP00000307940:I46V	ENSP00000307940:I46V	I	-	1	0	EEF2	3935216	1.000000	0.71417	0.998000	0.56505	0.333000	0.28666	7.815000	0.86186	2.014000	0.59158	0.533000	0.62120	ATC	EEF2	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom	ENSG00000167658		0.612	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	-	0.00	84	0	T	NM_001961		3984216	-1	tier1	-	no_errors	ENST00000309311	ensembl	human	known	74_37	missense	58.93	46	66	SNP	1.000	C
EEPD1	80820	genome.wustl.edu	37	7	36194797	36194797	+	Silent	SNP	A	A	G	rs369820285		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:36194797A>G	ENST00000242108.4	+	2	1582	c.864A>G	c.(862-864)acA>acG	p.T288T	EEPD1_ENST00000534978.1_Silent_p.T288T	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	288					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TGTGCATGACACTCCTGGAAA	0.562																																																	0								A		2,4404	2.1+/-5.4	0,2,2201	54.0	50.0	52.0		864	-10.0	0.9	7		52	0,8600		0,0,4300	no	coding-synonymous	EEPD1	NM_030636.2		0,2,6501	GG,GA,AA		0.0,0.0454,0.0154		288/570	36194797	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.864A>G	7.37:g.36194797A>G			Q96K64|Q9C0F7	Silent	SNP	pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH	p.T288	ENST00000242108.4	37	c.864	CCDS34619.1	7																																																																																			EEPD1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000122547		0.562	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	HGNC	protein_coding	OTTHUMT00000337602.1	-	0.00	21	0	A	NM_030636		36194797	+1	tier1	-	no_errors	ENST00000242108	ensembl	human	known	74_37	silent	15.38	32	6	SNP	0.360	G
EFNA1	1942	genome.wustl.edu	37	1	155100484	155100484	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:155100484C>A	ENST00000368407.3	+	1	549	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	EFNA1_ENST00000368406.2_Missense_Mutation_p.L11M|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	11					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTCTTGGGTCTGTGCTGCAG	0.652																																																	0													50.0	52.0	51.0					1																	155100484		2202	4300	6502	SO:0001583	missense	0				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.31C>A	1.37:g.155100484C>A	ENSP00000357392:p.Leu11Met		D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.L11M	ENST00000368407.3	37	c.31	CCDS1091.1	1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439287	0.63067	.	.	ENSG00000169242	ENST00000368407;ENST00000368406	D;D	0.94417	-3.39;-3.42	3.49	1.53	0.23141	.	0.312777	0.26072	N	0.026514	D	0.89508	0.6735	L	0.53561	1.675	0.24015	N	0.996165	P;P	0.49253	0.903;0.921	P;P	0.53861	0.736;0.653	T	0.81911	-0.0716	10	0.27785	T	0.31	-0.4538	5.3552	0.16057	0.0:0.729:0.0:0.271	.	11;11	P20827-2;P20827	.;EFNA1_HUMAN	M	11	ENSP00000357392:L11M;ENSP00000357391:L11M	ENSP00000357391:L11M	L	+	1	2	EFNA1	153367108	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	0.559000	0.23485	0.760000	0.33108	0.557000	0.71058	CTG	EFNA1	-	NULL	ENSG00000169242		0.652	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA1	HGNC	protein_coding	OTTHUMT00000085428.1	-	0.00	51	0	C	NM_004428		155100484	+1	tier1	-	no_errors	ENST00000368407	ensembl	human	known	74_37	missense	27.40	53	20	SNP	0.999	A
EGFLAM	133584	genome.wustl.edu	37	5	38438444	38438444	+	Missense_Mutation	SNP	C	C	T	rs200259259		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:38438444C>T	ENST00000354891.3	+	17	2697	c.2351C>T	c.(2350-2352)gCg>gTg	p.A784V	EGFLAM_ENST00000397202.2_Missense_Mutation_p.A150V|EGFLAM_ENST00000336740.6_Missense_Mutation_p.A550V|EGFLAM_ENST00000322350.5_Missense_Mutation_p.A784V	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	784	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTGGAGAATGCGGCCCACCCC	0.547																																					Colon(62;485 1295 3347 17454)												0													60.0	62.0	62.0					5																	38438444		2203	4300	6503	SO:0001583	missense	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2351C>T	5.37:g.38438444C>T	ENSP00000346964:p.Ala784Val		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.A784V	ENST00000354891.3	37	c.2351	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357047	0.82243	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;D	0.83335	0.85;0.69;-1.25;-1.71	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Epidermal growth factor-like, type 3 (1);	0.165528	0.52532	D	0.000065	D	0.87916	0.6298	M	0.76170	2.325	0.80722	D	1	D;D;P	0.54964	0.967;0.969;0.936	P;P;B	0.50490	0.642;0.536;0.388	D	0.88263	0.2924	10	0.54805	T	0.06	-9.8195	19.9065	0.97010	0.0:1.0:0.0:0.0	.	550;784;784	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	V	784;784;550;150;550	ENSP00000346964:A784V;ENSP00000313084:A784V;ENSP00000337607:A550V;ENSP00000380385:A150V	ENSP00000313084:A784V	A	+	2	0	EGFLAM	38474201	1.000000	0.71417	0.046000	0.18839	0.986000	0.74619	7.411000	0.80078	2.696000	0.92011	0.655000	0.94253	GCG	EGFLAM	-	superfamily_ConA-like_lec_gl_sf,pfscan_EG-like_dom,pfscan_Laminin_G	ENSG00000164318		0.547	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	-	0.00	40	0	C	NM_152403		38438444	+1	tier1	rs200259259	no_errors	ENST00000354891	ensembl	human	known	74_37	missense	25.86	86	30	SNP	0.535	T
EGFR	1956	genome.wustl.edu	37	7	55231514	55231514	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:55231514C>T	ENST00000275493.2	+	14	1897	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W	EGFR_ENST00000342916.3_Missense_Mutation_p.R574W|EGFR_ENST00000454757.2_Missense_Mutation_p.R521W|EGFR_ENST00000344576.2_Missense_Mutation_p.R574W|EGFR_ENST00000455089.1_Missense_Mutation_p.R529W|EGFR_ENST00000442591.1_Missense_Mutation_p.R574W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	574					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTGCACAGGACGGGTAAGAGC	0.572		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													125.0	117.0	120.0					7																	55231514		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1720C>T	7.37:g.55231514C>T	ENSP00000275493:p.Arg574Trp		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	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.R574W	ENST00000275493.2	37	c.1720	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393532	0.62066	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.65	3.8	0.43715	Growth factor, receptor (1);	0.272209	0.42172	D	0.000746	T	0.47021	0.1423	M	0.68952	2.095	0.39276	D	0.964478	D;D;D;D	0.71674	0.996;0.98;0.998;0.985	P;P;P;P	0.56514	0.8;0.645;0.755;0.559	T	0.54397	-0.8300	10	0.87932	D	0	.	13.8424	0.63446	0.2753:0.7247:0.0:0.0	.	529;574;574;574	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	W	529;574;444;574;574;574;521;368	ENSP00000415559:R529W;ENSP00000342376:R574W;ENSP00000345973:R574W;ENSP00000275493:R574W;ENSP00000410031:R574W;ENSP00000395243:R521W	ENSP00000275493:R574W	R	+	1	2	EGFR	55199008	0.998000	0.40836	0.939000	0.37840	0.211000	0.24417	2.796000	0.47869	0.700000	0.31782	0.655000	0.94253	CGG	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	ENSG00000146648		0.572	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	-	0.00	11	0	C	NM_005228		55231514	+1	tier1	-	no_errors	ENST00000275493	ensembl	human	known	74_37	missense	29.17	17	7	SNP	0.987	T
EI24	9538	genome.wustl.edu	37	11	125454387	125454387	+	3'UTR	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:125454387G>T	ENST00000530985.1	+	0	2259				EI24_ENST00000343678.4_3'UTR|EI24_ENST00000278903.6_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA			O14681	EI24_HUMAN	etoposide induced 2.4						apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		ATTTACTGTTGGCCACTGCCA	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000530985.1:c.*2256G>T	11.37:g.125454387G>T			A8K7D6|B4DKL6|Q9BUQ1	RNA	SNP	-	NULL	ENST00000530985.1	37	NULL		11																																																																																			EI24	-	-	ENSG00000149547		0.453	EI24-002	KNOWN	basic	processed_transcript	EI24	HGNC	protein_coding	OTTHUMT00000386671.1	-	0.00	37	0	G	NM_004879		125454387	+1	tier1	-	no_errors	ENST00000530985	ensembl	human	known	74_37	rna	52.08	22	25	SNP	0.925	T
EIF2B5	8893	genome.wustl.edu	37	3	183854553	183854553	+	Intron	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:183854553delT	ENST00000273783.3	+	2	442				EIF2B5_ENST00000444495.1_Intron|EIF2B5_ENST00000432569.1_3'UTR|RP11-778D9.12_ENST00000608232.1_RNA|EIF2B5_ENST00000498831.1_Intron|RP11-778D9.12_ENST00000608135.1_RNA	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa						astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCTTTCCATGTTTCGCCATCT	0.398																																																	0													135.0	142.0	140.0					3																	183854553		2203	4300	6503	SO:0001627	intron_variant	0			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.320+29T>-	3.37:g.183854553delT			Q541Z1|Q96D04	RNA	DEL	-	NULL	ENST00000273783.3	37	NULL	CCDS3252.1	3																																																																																			EIF2B5	-	-	ENSG00000145191		0.398	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	HGNC	protein_coding	OTTHUMT00000346168.1		0.00	17	0	T			183854553	+1	tier1		no_errors	ENST00000471832	ensembl	human	putative	74_37	rna	23.33	23	7	DEL	0.000	-
EIF5A2	56648	genome.wustl.edu	37	3	170611036	170611037	+	3'UTR	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:170611036_170611037insA	ENST00000295822.2	-	0	759_760				EIF5A2_ENST00000460117.1_5'UTR|EIF5A2_ENST00000487522.1_3'UTR	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2						cellular protein metabolic process (GO:0044267)|mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|polyamine homeostasis (GO:0010509)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|translational frameshifting (GO:0006452)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			TGAAAACAATTAAAAAAAGAAA	0.287																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF293386	CCDS3214.1	3q26.2	2008-05-15			ENSG00000163577	ENSG00000163577			3301	protein-coding gene	gene with protein product		605782					Standard	NM_020390		Approved		uc003fhd.3	Q9GZV4	OTTHUMG00000158958	ENST00000295822.2:c.*113->T	3.37:g.170611043_170611043dupA			B2R4V5	RNA	INS	-	NULL	ENST00000295822.2	37	NULL	CCDS3214.1	3																																																																																			EIF5A2	-	-	ENSG00000163577		0.287	EIF5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5A2	HGNC	protein_coding	OTTHUMT00000352681.1		0.00	12	0	-			170611037	-1	tier1		no_errors	ENST00000460117	ensembl	human	putative	74_37	rna	18.75	26	6	INS	0.202:0.244	A
ELAVL2	1993	genome.wustl.edu	37	9	23704941	23704941	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:23704941A>G	ENST00000397312.2	-	4	736	c.462T>C	c.(460-462)tcT>tcC	p.S154S	ELAVL2_ENST00000544538.1_Silent_p.S154S|ELAVL2_ENST00000380117.1_Silent_p.S154S|ELAVL2_ENST00000223951.6_Silent_p.S154S|ELAVL2_ENST00000380110.4_Silent_p.S183S	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	154	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAAGAATACGAGAAGTAATAA	0.423																																																	0													163.0	149.0	154.0					9																	23704941		2203	4300	6503	SO:0001819	synonymous_variant	0			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.462T>C	9.37:g.23704941A>G			D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.S154	ENST00000397312.2	37	c.462	CCDS6515.1	9																																																																																			ELAVL2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	ENSG00000107105		0.423	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	-	0.00	17	0	A	NM_004432		23704941	-1	tier1	-	no_errors	ENST00000380117	ensembl	human	known	74_37	silent	40.00	14	10	SNP	0.993	G
ELAVL3	1995	genome.wustl.edu	37	19	11577605	11577605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:11577605delC	ENST00000359227.3	-	2	471	c.47delG	c.(46-48)ggcfs	p.G16fs	CTC-398G3.6_ENST00000585656.1_Frame_Shift_Del_p.G170fs|RN7SL669P_ENST00000581926.1_RNA|ELAVL3_ENST00000438662.2_Frame_Shift_Del_p.G16fs	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	16					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						gccggccgggcccccccccAC	0.652																																																	0									,	75,148,4031		0,0,75,0,148,1904	32.0	32.0	32.0		,	1.1	1.0	19		32	103,312,7813		2,0,99,0,312,3701	no	codingComplex,codingComplex	ELAVL3	NM_032281.2,NM_001420.3	,	2,0,174,0,460,5605	A1A1,A1A2,A1R,A2A2,A2R,RR		5.0438,5.2421,5.1114	,	,	11577605	178,460,11844	2201	4296	6497	SO:0001589	frameshift_variant	0				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.47delG	19.37:g.11577605delC	ENSP00000352162:p.Gly16fs		Q16135|Q96CL8|Q96QS9	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.G16fs	ENST00000359227.3	37	c.47	CCDS32912.1	19																																																																																			ELAVL3	-	NULL	ENSG00000196361		0.652	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	HGNC	protein_coding	OTTHUMT00000458827.2		0.00	17	0	C	NM_001420		11577605	-1	tier1		no_errors	ENST00000359227	ensembl	human	known	74_37	frame_shift_del	30.61	34	15	DEL	1.000	-
ELMO2	63916	genome.wustl.edu	37	20	45000560	45000560	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:45000560G>T	ENST00000290246.6	-	17	1659	c.1465C>A	c.(1465-1467)Ccc>Acc	p.P489T	ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000445496.2_Missense_Mutation_p.P306T|ELMO2_ENST00000396391.1_Missense_Mutation_p.P489T|ELMO2_ENST00000454865.2_Missense_Mutation_p.P221T|ELMO2_ENST00000372176.1_Missense_Mutation_p.P401T|ELMO2_ENST00000439931.2_Missense_Mutation_p.P501T|ELMO2_ENST00000352077.2_Missense_Mutation_p.P487T	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	489					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AAAGAGTTGGGTTTGGAGGGC	0.488																																																	0													84.0	83.0	83.0					20																	45000560		2203	4300	6503	SO:0001583	missense	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1465C>A	20.37:g.45000560G>T	ENSP00000290246:p.Pro489Thr		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.P501T	ENST00000290246.6	37	c.1501	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550017	0.86127	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077	T;T;T;T;T;T;T;T	0.47528	2.37;2.11;0.84;2.37;2.35;1.78;1.82;2.36	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	M	0.82823	2.61	0.80722	D	1	P;D;P;D	0.89917	0.943;1.0;0.938;0.999	P;D;P;D	0.79108	0.74;0.992;0.596;0.973	T	0.76780	-0.2833	10	0.87932	D	0	-22.027	16.9137	0.86146	0.0:0.0:1.0:0.0	.	501;221;306;489	B4DRL5;B4DZ20;B7Z1S8;Q96JJ3	.;.;.;ELMO2_HUMAN	T	489;401;56;489;501;306;221;487	ENSP00000290246:P489T;ENSP00000361249:P401T;ENSP00000414329:P56T;ENSP00000379673:P489T;ENSP00000396519:P501T;ENSP00000409920:P306T;ENSP00000415641:P221T;ENSP00000326172:P487T	ENSP00000290246:P489T	P	-	1	0	ELMO2	44433967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.523000	0.85059	0.655000	0.94253	CCC	ELMO2	-	NULL	ENSG00000062598		0.488	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	-	0.00	30	0	G	NM_022086		45000560	-1	tier1	-	no_errors	ENST00000439931	ensembl	human	known	74_37	missense	17.19	53	11	SNP	1.000	T
EML4	27436	genome.wustl.edu	37	2	42490438	42490438	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:42490438T>C	ENST00000318522.5	+	5	895	c.633T>C	c.(631-633)acT>acC	p.T211T	EML4_ENST00000401738.3_Silent_p.T211T|EML4_ENST00000402711.2_Silent_p.T153T	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	211					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTACCAAAACTGCAGACAAGT	0.308			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													79.0	76.0	77.0					2																	42490438		2203	4300	6503	SO:0001819	synonymous_variant	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.633T>C	2.37:g.42490438T>C			A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T211	ENST00000318522.5	37	c.633	CCDS1807.1	2																																																																																			EML4	-	NULL	ENSG00000143924		0.308	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0.00	72	0	T	NM_019063		42490438	+1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	silent	28.04	77	30	SNP	0.072	C
EML4	27436	genome.wustl.edu	37	2	42492077	42492077	+	Intron	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:42492077delA	ENST00000318522.5	+	6	929				EML4_ENST00000401738.3_Frame_Shift_Del_p.E229fs|EML4_ENST00000402711.2_Intron	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4						microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCAACTCGCGAAAAAAACAGC	0.353			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0																																										SO:0001627	intron_variant	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.667+206A>-	2.37:g.42492077delA			A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Frame_Shift_Del	DEL	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N231fs	ENST00000318522.5	37	c.686	CCDS1807.1	2																																																																																			EML4	-	NULL	ENSG00000143924		0.353	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3		0.00	38	0	A	NM_019063		42492077	+1	tier1		no_errors	ENST00000401738	ensembl	human	novel	74_37	frame_shift_del	43.48	39	30	DEL	1.000	-
EML4	27436	genome.wustl.edu	37	2	42557121	42557121	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:42557121A>G	ENST00000318522.5	+	23	2982	c.2720A>G	c.(2719-2721)aAt>aGt	p.N907S	EML4_ENST00000401738.3_Missense_Mutation_p.N918S|EML4_ENST00000453191.2_Missense_Mutation_p.N171S|EML4_ENST00000402711.2_Missense_Mutation_p.N849S	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	907					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CAGCCCTTAAATGAGACAGCT	0.498			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													89.0	84.0	86.0					2																	42557121		2203	4300	6503	SO:0001583	missense	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2720A>G	2.37:g.42557121A>G	ENSP00000320663:p.Asn907Ser		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N907S	ENST00000318522.5	37	c.2720	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260966	0.23051	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;D;T	0.97575	1.19;1.25;-4.44;0.95	5.14	-0.208	0.13185	.	1.562160	0.03056	N	0.155223	D	0.92143	0.7509	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	D	0.84686	0.0720	10	0.20046	T	0.44	-0.0436	8.6649	0.34114	0.5308:0.3929:0.0763:0.0	.	849;849;918;907	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	S	907;849;918;171	ENSP00000320663:N907S;ENSP00000385059:N849S;ENSP00000384939:N918S;ENSP00000400590:N171S	ENSP00000320663:N907S	N	+	2	0	EML4	42410625	0.000000	0.05858	0.001000	0.08648	0.958000	0.62258	0.727000	0.25999	0.057000	0.16193	0.533000	0.62120	AAT	EML4	-	NULL	ENSG00000143924		0.498	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0.00	25	0	A	NM_019063		42557121	+1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	missense	51.61	15	16	SNP	0.006	G
EMP1	2012	genome.wustl.edu	37	12	13364427	13364427	+	5'UTR	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:13364427delA	ENST00000256951.5	+	0	182				EMP1_ENST00000537612.1_5'Flank|EMP1_ENST00000396301.3_5'UTR|EMP1_ENST00000431267.2_Intron|EMP1_ENST00000542289.1_3'UTR|EMP1_ENST00000544053.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1						cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		ACAAGTTACCAAAAAAAAAAG	0.408																																																	0													157.0	147.0	150.0					12																	13364427		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.-18A>-	12.37:g.13364427delA			B2R5N1|B4DRR1|O00681|Q13481|Q13834	RNA	DEL	-	NULL	ENST00000256951.5	37	NULL	CCDS8660.1	12																																																																																			EMP1	-	-	ENSG00000134531		0.408	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP1	HGNC	protein_coding	OTTHUMT00000401019.1		0.00	44	0	A	NM_001423		13364427	+1	tier1		no_errors	ENST00000542289	ensembl	human	known	74_37	rna	20.37	43	11	DEL	0.000	-
ENC1	8507	genome.wustl.edu	37	5	73931058	73931058	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:73931058T>C	ENST00000302351.4	-	2	2383	c.1253A>G	c.(1252-1254)gAc>gGc	p.D418G	ENC1_ENST00000537006.1_Missense_Mutation_p.D418G|ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000510316.1_Missense_Mutation_p.D345G	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	418					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GATTGTGGGGTCATAATGTTC	0.552																																																	0													58.0	64.0	62.0					5																	73931058		2203	4300	6503	SO:0001583	missense	0			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1253A>G	5.37:g.73931058T>C	ENSP00000306356:p.Asp418Gly		B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D418G	ENST00000302351.4	37	c.1253	CCDS4021.1	5	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111365	0.77210	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	D;D;D	0.88664	-2.41;-2.41;-2.41	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.93743	0.8000	M	0.89840	3.065	0.80722	D	1	P	0.42649	0.786	P	0.49799	0.622	D	0.94659	0.7846	10	0.87932	D	0	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	418	O14682	ENC1_HUMAN	G	418;345;418	ENSP00000306356:D418G;ENSP00000423804:D345G;ENSP00000446289:D418G	ENSP00000306356:D418G	D	-	2	0	ENC1	73966814	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.035000	0.88872	2.254000	0.74563	0.459000	0.35465	GAC	ENC1	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000171617		0.552	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENC1	HGNC	protein_coding	OTTHUMT00000219862.2	-	0.00	19	0	T	NM_003633		73931058	-1	tier1	-	no_errors	ENST00000302351	ensembl	human	known	74_37	missense	53.85	6	7	SNP	1.000	C
ENO1	2023	genome.wustl.edu	37	1	8928104	8928104	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:8928104T>C	ENST00000234590.4	-	5	372	c.253A>G	c.(253-255)Aca>Gca	p.T85A		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	85					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TCTTGTTCTGTGACGTTCAGT	0.473																																					Esophageal Squamous(21;302 608 19946 22210 33560)												0													378.0	366.0	370.0					1																	8928104		2203	4300	6503	SO:0001583	missense	0			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.253A>G	1.37:g.8928104T>C	ENSP00000234590:p.Thr85Ala		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.T85A	ENST00000234590.4	37	c.253	CCDS97.1	1	.	.	.	.	.	.	.	.	.	.	T	6.573	0.473956	0.12521	.	.	ENSG00000074800	ENST00000234590	T	0.30182	1.54	5.93	3.07	0.35406	Enolase, N-terminal (1);	0.550760	0.18997	N	0.125444	T	0.25827	0.0629	L	0.42529	1.33	0.21697	N	0.999585	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19031	-1.0318	10	0.54805	T	0.06	-14.1382	10.1584	0.42836	0.0:0.7852:0.0:0.2148	.	52;85	A4UCS8;P06733	.;ENOA_HUMAN	A	85	ENSP00000234590:T85A	ENSP00000234590:T85A	T	-	1	0	ENO1	8850691	0.030000	0.19436	0.247000	0.24249	0.008000	0.06430	0.352000	0.20113	0.410000	0.25675	-0.912000	0.02778	ACA	ENO1	-	pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase	ENSG00000074800		0.473	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	-	0.00	41	0	T	NM_001428		8928104	-1	tier1	-	no_errors	ENST00000234590	ensembl	human	known	74_37	missense	61.22	19	30	SNP	0.442	C
ENOX2	10495	genome.wustl.edu	37	X	129804065	129804065	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:129804065G>A	ENST00000370927.1	-	5	676	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	ENOX2_ENST00000370935.1_Missense_Mutation_p.R190C|ENOX2_ENST00000394363.1_Missense_Mutation_p.R190C|ENOX2_ENST00000338144.3_Missense_Mutation_p.R219C			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	219					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GCTAGCATACGCTGTTTACAC	0.512																																					Ovarian(101;828 1506 2951 9500 35258)												0													187.0	139.0	155.0					X																	129804065		2203	4300	6503	SO:0001583	missense	0			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.655C>T	X.37:g.129804065G>A	ENSP00000359965:p.Arg219Cys		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R219C	ENST00000370927.1	37	c.655	CCDS14626.1	X	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267189	0.80469	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.75910	0.3914	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.76924	-0.2779	8	.	.	.	-10.4316	10.0382	0.42142	0.0:0.0:0.7997:0.2003	.	219;247	Q16206;A4QPE1	ENOX2_HUMAN;.	C	190;190;219;190;247;219;190	.	.	R	-	1	0	ENOX2	129631746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.993000	0.56987	2.407000	0.81776	0.600000	0.82982	CGT	ENOX2	-	NULL	ENSG00000165675		0.512	ENOX2-004	KNOWN	basic|CCDS	protein_coding	ENOX2	HGNC	protein_coding	OTTHUMT00000058277.1	-	0.00	30	0	G	NM_182314		129804065	-1	tier1	-	no_errors	ENST00000338144	ensembl	human	known	74_37	missense	76.60	21	72	SNP	1.000	A
ENPP7	339221	genome.wustl.edu	37	17	77710926	77710926	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:77710926T>C	ENST00000328313.5	+	4	1334	c.1113T>C	c.(1111-1113)ccT>ccC	p.P371P		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGTGGGCCCTAGCTTCAGGG	0.617																																																	0													91.0	79.0	83.0					17																	77710926		2203	4300	6503	SO:0001819	synonymous_variant	0			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1113T>C	17.37:g.77710926T>C				Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core	p.P371	ENST00000328313.5	37	c.1113	CCDS11763.1	17																																																																																			ENPP7	-	superfamily_Alkaline_phosphatase_core	ENSG00000182156		0.617	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENPP7	HGNC	protein_coding	OTTHUMT00000437038.1	-	0.00	28	0	T	NM_178543		77710926	+1	tier1	-	no_errors	ENST00000328313	ensembl	human	known	74_37	silent	34.48	38	20	SNP	0.967	C
AC008132.13	0	genome.wustl.edu	37	22	18839230	18839230	+	3'UTR	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:18839230G>A	ENST00000342005.4	+	0	1597				AC008132.13_ENST00000412938.1_3'UTR																							CAAGGCGGGAGGCAGCTGACA	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000342005.4:c.*87G>A	22.37:g.18839230G>A				RNA	SNP	-	NULL	ENST00000342005.4	37	NULL		22																																																																																			AC008132.13	-	-	ENSG00000161103		0.587	AC008132.13-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	ENSG00000161103	Clone_based_vega_gene	protein_coding	OTTHUMT00000316711.1	-	0.00	29	0	G			18839230	+1	tier1	-	no_errors	ENST00000412938	ensembl	human	known	74_37	rna	20.69	46	12	SNP	0.006	A
BCRP7	100133163	genome.wustl.edu	37	22	18844558	18844558	+	3'UTR	SNP	C	C	T	rs200409248		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:18844558C>T	ENST00000412938.1	+	0	2808																											GGACAGCAGACTTTAGGACCC	0.577																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*2805C>T	22.37:g.18844558C>T				RNA	SNP	-	NULL	ENST00000412938.1	37	NULL		22																																																																																			AC008132.13	-	-	ENSG00000161103		0.577	AC008132.13-002	KNOWN	basic	processed_transcript	ENSG00000161103	Clone_based_vega_gene	protein_coding	OTTHUMT00000471615.1		0.00	13	0	C			18844558	+1			no_errors	ENST00000412938	ensembl	human	known	74_37	rna	11.76	30	4	SNP	0.097	T
TUBB8P12	260334	genome.wustl.edu	37	18	49506	49506	+	Missense_Mutation	SNP	C	C	T	rs576451750	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:49506C>T	ENST00000308911.6	-	1	51	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	RP11-683L23.1_ENST00000594555.1_5'Flank|RP11-683L23.1_ENST00000573909.1_Intron																							CCAACCTTGGCGCCGATCTGG	0.687													.|||	2	0.000399361	0.0	0.0029	5008	,	,		8848	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	0																														ENST00000308911.6:c.52G>A	18.37:g.49506C>T	ENSP00000309431:p.Ala18Thr			Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.A18T	ENST00000308911.6	37	c.52		18	.	.	.	.	.	.	.	.	.	.	.	8.409	0.843780	0.16963	.	.	ENSG00000173213	ENST00000308911	T	0.69561	-0.41	0.109	0.109	0.14578	.	0.093235	0.40728	U	0.001035	T	0.64746	0.2626	.	.	.	0.25587	N	0.986735	.	.	.	.	.	.	T	0.68969	-0.5269	6	0.87932	D	0	.	5.9913	0.19465	0.0:0.9994:0.0:6.0E-4	.	.	.	.	T	18	ENSP00000309431:A18T	ENSP00000309431:A18T	A	-	1	0	RP11-683L23.1	39506	0.399000	0.25287	0.012000	0.15200	0.028000	0.11728	1.308000	0.33528	0.181000	0.19994	0.184000	0.17185	GCC	RP11-683L23.1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin	ENSG00000173213		0.687	RP11-683L23.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000173213	Clone_based_vega_gene	protein_coding		-	0.00	238	0	C			49506	-1	tier1	-	no_errors	ENST00000308911	ensembl	human	known	74_37	missense	15.64	656	122	SNP	0.997	T
LOC101927209	101927209	genome.wustl.edu	37	1	142714101	142714102	+	lincRNA	INS	-	-	AC	rs368660230|rs529381844		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:142714101_142714102insAC	ENST00000610091.1	-	0	1556_1557																											TATAAAAGTAAacacacacaca	0.302																																																	0																																												0																															1.37:g.142714110_142714111dupAC				RNA	INS	-	NULL	ENST00000610091.1	37	NULL		1																																																																																			RP11-417J8.6	-	-	ENSG00000203849		0.302	RP11-417J8.6-001	KNOWN	basic	lincRNA	ENSG00000203849	Clone_based_vega_gene	lincRNA	OTTHUMT00000037265.2		0.00	27	0	-			142714102	-1	tier1		no_errors	ENST00000369381	ensembl	human	known	74_37	rna	21.21	26	7	INS	0.029:0.051	AC
SLC12A6	9990	genome.wustl.edu	37	15	34607028	34607029	+	Intron	DEL	AA	AA	-	rs566307709	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:34607028_34607029delAA	ENST00000354181.3	-	2	764				SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000397702.2_Intron|Y_RNA_ENST00000384363.1_RNA|SLC12A6_ENST00000458406.2_Intron|SLC12A6_ENST00000290209.5_Intron|SLC12A6_ENST00000560611.1_Intron|SLC12A6_ENST00000558589.1_Intron|SLC12A6_ENST00000558667.1_Intron			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6						angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	gaccagccttaaaaaaaaaaaa	0.386																																																	0																																										SO:0001627	intron_variant	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.271+21581TT>-	15.37:g.34607038_34607039delAA			A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	RNA	DEL	-	NULL	ENST00000354181.3	37	NULL	CCDS58352.1	15																																																																																			Y_RNA	-	-	ENSG00000207091		0.386	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000207091	RFAM	protein_coding	OTTHUMT00000417991.1		0.00	8	0	AA	NM_005135		34607029	+1	tier1		no_errors	ENST00000384363	ensembl	human	novel	74_37	rna	28.57	5	2	DEL	0.866:0.852	-
AC006988.1	0	genome.wustl.edu	37	7	88269891	88269892	+	RNA	DEL	TT	TT	-	rs200675201		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:88269891_88269892delTT	ENST00000390184.1	+	0	57_58																											GAAGGAGCACTTTTTTTTTTTT	0.317																																																	0																																												0																															7.37:g.88269901_88269902delTT				RNA	DEL	-	NULL	ENST00000390184.1	37	NULL		7																																																																																			AC006988.1	-	-	ENSG00000211518		0.317	AC006988.1-201	NOVEL	basic	miRNA	ENSG00000211518	Clone_based_ensembl_gene	miRNA			0.00	20	0	TT			88269892	+1	tier1		no_errors	ENST00000390184	ensembl	human	novel	74_37	rna	30.77	9	4	DEL	0.475:0.436	-
AC109351.1	0	genome.wustl.edu	37	4	29751861	29751861	+	RNA	DEL	A	A	-	rs113375137	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:29751861delA	ENST00000390756.1	+	0	44																											CTTGAGAAGGAAAAAAAAAAT	0.308													|||unknown(HR)	243	0.0485224	0.0961	0.0375	5008	,	,		17644	0.0069		0.0596	False		,,,				2504	0.0235																0																																												0																															4.37:g.29751861delA				RNA	DEL	-	NULL	ENST00000390756.1	37	NULL		4																																																																																			AC109351.1	-	-	ENSG00000212045		0.308	AC109351.1-201	NOVEL	basic	miRNA	ENSG00000212045	Clone_based_ensembl_gene	miRNA			0.00	38	0	A			29751861	+1	tier1		no_errors	ENST00000390756	ensembl	human	novel	74_37	rna	51.16	21	22	DEL	1.000	-
SCRIB	23513	genome.wustl.edu	37	8	144872541	144872541	+	IGR	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:144872541C>T	ENST00000320476.3	-	0	5143				RP11-429J17.8_ENST00000527139.1_RNA|SCRIB_ENST00000546337.1_5'Flank|RP11-429J17.8_ENST00000534089.1_RNA|RP11-429J17.8_ENST00000532625.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein						activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGCTGGTGTTCGACCTGCGAG	0.677																																					Pancreas(51;966 1133 10533 14576 29674)												0																																										SO:0001628	intergenic_variant	0			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154		8.37:g.144872541C>T			Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	RNA	SNP	-	NULL	ENST00000320476.3	37	NULL	CCDS6411.1	8																																																																																			RP11-429J17.8	-	-	ENSG00000214733		0.677	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000214733	Clone_based_vega_gene	protein_coding	OTTHUMT00000382215.1	-	0.00	53	0	C	NM_015356		144872541	+1	tier1	-	no_errors	ENST00000527139	ensembl	human	known	74_37	rna	26.67	143	52	SNP	0.600	T
FBXL12	54850	genome.wustl.edu	37	19	9931204	9931204	+	5'Flank	SNP	A	A	G	rs71188840|rs528156854		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:9931204A>G	ENST00000247977.4	-	0	0				FBXL12_ENST00000586073.1_5'Flank|FBXL12_ENST00000585379.1_Intron|FBXL12_ENST00000592067.1_5'Flank|AC008752.1_ENST00000401283.1_RNA|FBXL12_ENST00000588922.1_5'Flank|FBXL12_ENST00000586469.1_5'Flank|SNORA70_ENST00000363367.1_RNA|FBXL12_ENST00000586651.1_5'Flank|FBXL12_ENST00000589626.1_5'Flank	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12						protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						AAAAAAAAAAAtgtgtgtgtg	0.448																																																	0																																										SO:0001631	upstream_gene_variant	0			AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8			19.37:g.9931204A>G	Exception_encountered		B3KSJ8|Q9H5K4	RNA	SNP	-	NULL	ENST00000247977.4	37	NULL	CCDS12218.1	19																																																																																			AC008752.1	-	-	ENSG00000216102		0.448	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216102	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000450265.1	-	0.00	33	0	A	NM_017703		9931204	+1	tier1	-	no_errors	ENST00000401283	ensembl	human	novel	74_37	rna	19.30	43	11	SNP	0.000	G
SNORA11	677799	genome.wustl.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs566317626		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:70270922delT	ENST00000408133.1	-	0	126									small nucleolar RNA, H/ACA box 11																		ATGGATTCTCTTTTTTTTTTT	0.353																																																	0																																												0			AM055729		Xp11.21	2013-09-05			ENSG00000221716	ENSG00000221716		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32599	non-coding RNA	RNA, small nucleolar	"""small nucleolar RNA, H/ACA box 11A"""	300662				16361266, 16381836	Standard	NR_002953		Approved	U107, SNORA11A	uc021ptl.1				14.37:g.70270922delT				RNA	DEL	-	NULL	ENST00000408133.1	37	NULL		14																																																																																			SNORA11	-	-	ENSG00000221060		0.353	SNORA11.1-201	NOVEL	basic	snoRNA	ENSG00000221060	RFAM	snoRNA			0.00	14	0	T	NR_002953		70270922	-1	tier1		no_errors	ENST00000408133	ensembl	human	novel	74_37	rna	28.00	18	7	DEL	0.003	-
GSX2	170825	genome.wustl.edu	37	4	54969782	54969782	+	IGR	SNP	A	A	G	rs56366082|rs71200364|rs57728719		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:54969782A>G	ENST00000326902.2	+	0	1812				AC110298.1_ENST00000408292.1_RNA|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2						forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GCGCGCGcacacacacacaca	0.582																																																	0																																										SO:0001628	intergenic_variant	0				CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696		4.37:g.54969782A>G				RNA	SNP	-	NULL	ENST00000326902.2	37	NULL	CCDS3494.1	4																																																																																			AC110298.1	-	-	ENSG00000221219		0.582	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221219	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000250595.1	-	0.00	33	0	A	NM_133267		54969782	-1	tier1	rs56366082	no_errors	ENST00000408292	ensembl	human	novel	74_37	rna	13.58	70	11	SNP	0.000	G
CUX2	23316	genome.wustl.edu	37	12	111511846	111511846	+	Intron	DEL	A	A	-	rs557943101		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:111511846delA	ENST00000261726.6	+	1	217				AC002978.1_ENST00000408332.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2						cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						tacttatactaaaaaaaaaaa	0.303																																																	0																																										SO:0001627	intron_variant	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.63+39802A>-	12.37:g.111511846delA			A7E2Y4	RNA	DEL	-	NULL	ENST00000261726.6	37	NULL	CCDS41837.1	12																																																																																			AC002978.1	-	-	ENSG00000221259		0.303	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221259	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000404765.1		0.00	34	0	A	NM_015267		111511846	+1	tier1		no_errors	ENST00000408332	ensembl	human	novel	74_37	rna	35.14	24	13	DEL	0.000	-
GOLGA8H	728498	genome.wustl.edu	37	15	30906094	30906094	+	Intron	SNP	C	C	T	rs565685691	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:30906094C>T	ENST00000566740.1	+	16	1469				AC026150.1_ENST00000408431.1_RNA|RN7SL628P_ENST00000473920.2_RNA			P0CJ92	GOG8H_HUMAN	golgin A8 family, member H							Golgi apparatus (GO:0005794)											GGCCAGGGCACGGCAGGGGGA	0.612													c|||	2	0.000399361	0.0	0.0	5008	,	,		13457	0.002		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0				CCDS61576.1	15q13.2	2012-10-05			ENSG00000261794	ENSG00000261794			37443	protein-coding gene	gene with protein product	"""golgi autoantigen, golgin subfamily a, 6-like 11"""						Standard	NM_001282490		Approved	GOLGA6L11		P0CJ92	OTTHUMG00000175654	ENST00000566740.1:c.1469+21C>T	15.37:g.30906094C>T				RNA	SNP	-	NULL	ENST00000566740.1	37	NULL		15																																																																																			AC026150.1	-	-	ENSG00000221358		0.612	GOLGA8H-001	NOVEL	basic|appris_principal	protein_coding	ENSG00000221358	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000430724.1	-	0.00	68	0	C	XM_001724395		30906094	+1	tier1	-	no_errors	ENST00000408431	ensembl	human	novel	74_37	rna	82.81	22	106	SNP	0.558	T
AL357519.1	0	genome.wustl.edu	37	6	114026117	114026117	+	RNA	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:114026117delA	ENST00000408632.2	+	0	83																											TTGAGAGGGGAAAAAAAAATC	0.388																																																	0																																												0																															6.37:g.114026117delA				RNA	DEL	-	NULL	ENST00000408632.2	37	NULL		6																																																																																			AL357519.1	-	-	ENSG00000221559		0.388	AL357519.1-201	NOVEL	basic	miRNA	ENSG00000221559	Clone_based_ensembl_gene	miRNA			0.00	41	0	A			114026117	+1	tier1		no_errors	ENST00000408632	ensembl	human	novel	74_37	rna	36.17	30	17	DEL	0.000	-
C10orf90	118611	genome.wustl.edu	37	10	128245580	128245581	+	Intron	DEL	AA	AA	-	rs200947401	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:128245580_128245581delAA	ENST00000544758.1	-	3	343				AL583860.1_ENST00000408790.1_RNA			Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90						mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		taatcaatttaaaaaaaaaaaa	0.361																																																	0																																										SO:0001627	intron_variant	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000544758.1:c.314-43072TT>-	10.37:g.128245590_128245591delAA			B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	RNA	DEL	-	NULL	ENST00000544758.1	37	NULL		10																																																																																			AL583860.1	-	-	ENSG00000221717		0.361	C10orf90-204	KNOWN	basic	protein_coding	ENSG00000221717	Clone_based_ensembl_gene	protein_coding			0.00	15	0	AA	NM_001004298		128245581	-1	tier1		no_errors	ENST00000408790	ensembl	human	novel	74_37	rna	19.05	17	4	DEL	0.006:0.005	-
RP11-384J4.2	0	genome.wustl.edu	37	14	27396917	27396920	+	lincRNA	DEL	AAAA	AAAA	-	rs398024627|rs71125415|rs75230975		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:27396917_27396920delAAAA	ENST00000552303.1	+	0	205				AL110292.1_ENST00000410967.1_RNA																							aaagtatggcaaaaaaaaaaaaaa	0.304																																																	0																																												0																															14.37:g.27396925_27396928delAAAA				RNA	DEL	-	NULL	ENST00000552303.1	37	NULL		14																																																																																			AL110292.1	-	-	ENSG00000222899		0.304	RP11-384J4.2-002	KNOWN	basic	lincRNA	ENSG00000222899	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000409120.1		0.00	94	0	AAAA			27396920	+1	tier1		no_errors	ENST00000410967	ensembl	human	novel	74_37	rna	31.87	109	51	DEL	0.000:0.001:0.000:0.000	-
SH3GL3	6457	genome.wustl.edu	37	15	84285004	84285006	+	Intron	DEL	TTT	TTT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:84285004_84285006delTTT	ENST00000427482.2	+	9	1144				AC087738.1_ENST00000411248.1_RNA|SH3GL3_ENST00000535412.1_Intron|SH3GL3_ENST00000564054.1_Intron|SH3GL3_ENST00000324537.5_Intron|SH3GL3_ENST00000434347.1_Intron	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3						central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ttgtgattgcttttttttttttt	0.424																																																	0																																										SO:0001627	intron_variant	0			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.839-1828TTT>-	15.37:g.84285013_84285015delTTT			O43553|O43554	RNA	DEL	-	NULL	ENST00000427482.2	37	NULL	CCDS10325.2	15																																																																																			AC087738.1	-	-	ENSG00000223180		0.424	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000223180	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000347797.1		0.00	22	0	TTT	NM_003027		84285006	+1	tier1		no_errors	ENST00000411248	ensembl	human	novel	74_37	rna	14.29	24	4	DEL	0.148:0.156:0.163	-
BAZ2B	29994	genome.wustl.edu	37	2	160252219	160252219	+	Intron	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:160252219C>A	ENST00000392783.2	-	20	3571				BAZ2B_ENST00000392782.1_Intron|BAZ2B_ENST00000343439.5_Intron|AC008277.1_ENST00000608714.1_RNA|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Intron|AC008277.1_ENST00000594921.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTAGAAGAGCCAATGCTTTAG	0.303																																																	0													35.0	28.0	30.0					2																	160252219		692	1591	2283	SO:0001627	intron_variant	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3075+60G>T	2.37:g.160252219C>A			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	RNA	SNP	-	NULL	ENST00000392783.2	37	NULL	CCDS2209.2	2																																																																																			AC008277.1	-	-	ENSG00000223642		0.303	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000223642	Clone_based_vega_gene	protein_coding	OTTHUMT00000255037.2	-	0.00	26	0	C			160252219	+1	tier1	-	no_errors	ENST00000594921	ensembl	human	known	74_37	rna	11.63	38	5	SNP	0.002	A
DUSP19	142679	genome.wustl.edu	37	2	183948142	183948142	+	Intron	DEL	T	T	-	rs533797314	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:183948142delT	ENST00000354221.4	+	2	401				DUSP19_ENST00000469344.1_Intron|DUSP19_ENST00000342619.6_Intron|AC064871.3_ENST00000444562.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						GTTGTTGGTCTTTTTTTTTTA	0.323													|||unknown(HR)	19	0.00379393	0.0061	0.0014	5008	,	,		15233	0.002		0.0	False		,,,				2504	0.0082																0																																										SO:0001627	intron_variant	0			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.227-94T>-	2.37:g.183948142delT			B2RA79|Q547H4|Q8WYN4	RNA	DEL	-	NULL	ENST00000354221.4	37	NULL	CCDS2289.1	2																																																																																			AC064871.3	-	-	ENSG00000224643		0.323	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224643	Clone_based_vega_gene	protein_coding	OTTHUMT00000255866.1		0.00	14	0	T			183948142	-1	tier1		no_errors	ENST00000444562	ensembl	human	known	74_37	rna	60.00	10	15	DEL	0.000	-
PXT1	222659	genome.wustl.edu	37	6	36359695	36359698	+	Intron	DEL	TTTA	TTTA	-	rs200946427|rs397897132|rs10578178|rs147244815|rs373183785|rs199820722|rs549283808	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTTA	TTTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:36359695_36359698delTTTA	ENST00000454782.2	-	5	784				RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1						positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|peroxisome (GO:0005777)											TTTTTTTTTTTTTAAAAGTGATAG	0.304														20	0.00399361	0.0061	0.0014	5008	,	,		18223	0.004		0.002	False		,,,				2504	0.0051																0										2529,1715		604,1321,197							0.0		dbSNP_119	25	5150,3092		1268,2614,239	no	intron	PXT1	NM_152990.3		1872,3935,436	A1A1,A1R,RR		37.5152,40.41,38.4991				7679,4807				SO:0001627	intron_variant	0			AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165			18312	protein-coding gene	gene with protein product							Standard	NM_152990		Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.301-44TAAA>-	6.37:g.36359695_36359698delTTTA			J3KR74	RNA	DEL	-	NULL	ENST00000454782.2	37	NULL	CCDS4820.2	6																																																																																			RP1-50J22.4	-	-	ENSG00000224666		0.304	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000224666	Clone_based_vega_gene	protein_coding	OTTHUMT00000357516.2		0.00	11	0	TTTA	NM_152990		36359698	+1	tier1		no_errors	ENST00000411643	ensembl	human	known	74_37	rna	54.55	5	6	DEL	0.000:0.001:0.002:0.005	-
EXOSC10	5394	genome.wustl.edu	37	1	11132250	11132251	+	Intron	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:11132250_11132251insA	ENST00000376936.4	-	20	2207				EXOSC10_ENST00000304457.7_Intron|RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000544779.1_Intron	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10						CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCAAATATAACAAAAAAAACCC	0.416																																					Colon(179;105 1987 14326 27364 29542)												0																																										SO:0001627	intron_variant	0			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2158-22->T	1.37:g.11132258_11132258dupA			B1AKQ0|B1AKQ1|Q15158	RNA	INS	-	NULL	ENST00000376936.4	37	NULL	CCDS30584.1	1																																																																																			RP4-635E18.7	-	-	ENSG00000226849		0.416	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000226849	Clone_based_vega_gene	protein_coding	OTTHUMT00000006078.1		0.00	31	0	-	NM_001001998		11132251	+1	tier1		no_errors	ENST00000452378	ensembl	human	known	74_37	rna	42.86	20	15	INS	0.000:0.000	A
MYADM	91663	genome.wustl.edu	37	19	54378026	54378029	+	3'UTR	DEL	TTTT	TTTT	-	rs67727940|rs307934	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:54378026_54378029delTTTT	ENST00000391769.2	+	0	1523_1526				MYADM_ENST00000336967.3_3'UTR|MYADM_ENST00000391771.1_3'UTR|MYADM_ENST00000391770.4_3'UTR|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker						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)		ttttcttttctttttttttttttt	0.461																																																	0																																										SO:0001624	3_prime_UTR_variant	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.*277TTTT>-	19.37:g.54378034_54378037delTTTT			B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	RNA	DEL	-	NULL	ENST00000391769.2	37	NULL	CCDS12866.1	19																																																																																			AC008440.5	-	-	ENSG00000232220		0.461	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232220	Clone_based_vega_gene	protein_coding	OTTHUMT00000134337.1		0.00	80	0	TTTT	NM_138373		54378029	-1	tier1		no_errors	ENST00000413496	ensembl	human	known	74_37	rna	7.89	70	6	DEL	0.000:0.000:0.000:0.000	-
RP11-782C8.2	0	genome.wustl.edu	37	1	143210446	143210446	+	lincRNA	DEL	T	T	-	rs530198275|rs376698056	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:143210446delT	ENST00000412204.2	-	0	624				RP11-782C8.1_ENST00000438000.1_lincRNA																							GTCCATATACTAAAAAGGTTA	0.284																																																	0																																												0																															1.37:g.143210446delT				RNA	DEL	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			RP11-782C8.2	-	-	ENSG00000232274		0.284	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2		0.00	45	0	T			143210446	-1			no_errors	ENST00000412204	ensembl	human	known	74_37	rna	10.45	60	7	DEL	0.001	0
TIAM2	26230	genome.wustl.edu	37	6	155575539	155575539	+	Intron	DEL	C	C	-	rs201028845|rs536446786	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:155575539delC	ENST00000461783.3	+	28	5586				TIAM2_ENST00000528391.2_Intron|TIAM2_ENST00000367174.2_Intron|TIAM2_ENST00000275246.7_Intron|TIAM2_ENST00000360366.4_Intron|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000318981.5_Intron|TIAM2_ENST00000456877.2_Intron|TIAM2_ENST00000529824.2_Intron|TIAM2_ENST00000456144.1_Intron			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGTTTTCTCTCCCCCCCCACC	0.522													|||unknown(STR2?)	25	0.00499201	0.0	0.0	5008	,	,		18643	0.0		0.0249	False		,,,				2504	0.0																0									,	18,17,4229		0,0,18,0,17,2097	88.0	82.0	84.0		,	-3.4	0.0	6		84	11,97,8146		0,0,11,2,93,4021	no	intron,intron	TIAM2	NM_012454.3,NM_001010927.2	,	0,0,29,2,110,6118	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3085,0.8208,1.1424	,	,	155575539	29,114,12375	2203	4300	6503	SO:0001627	intron_variant	0				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4314-14C>-	6.37:g.155575539delC			B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	RNA	DEL	-	NULL	ENST00000461783.3	37	NULL	CCDS34558.1	6																																																																																			RP11-477D19.2	-	-	ENSG00000235381		0.522	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ENSG00000235381	Clone_based_vega_gene	protein_coding	OTTHUMT00000387980.2		0.00	28	0	C	NM_012454		155575539	-1	tier1		no_errors	ENST00000435295	ensembl	human	known	74_37	rna	25.71	26	9	DEL	0.000	-
DYRK2	8445	genome.wustl.edu	37	12	68053151	68053151	+	3'UTR	SNP	C	C	T	rs4913352		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:68053151C>T	ENST00000344096.3	+	0	2877				RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2						cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GGAATGGAAACGTGTGTGTTC	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	0			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.*658C>T	12.37:g.68053151C>T			B2R9V9|Q9BRB5	RNA	SNP	-	NULL	ENST00000344096.3	37	NULL	CCDS8978.1	12																																																																																			RP11-335O4.3	-	-	ENSG00000235872		0.368	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000235872	Clone_based_vega_gene	protein_coding	OTTHUMT00000402218.1	-	0.00	44	0	C			68053151	-1	tier1	rs4913352	no_errors	ENST00000425371	ensembl	human	known	74_37	rna	52.63	27	30	SNP	0.000	T
RP3-470B24.5	0	genome.wustl.edu	37	6	168376899	168376900	+	lincRNA	INS	-	-	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:168376899_168376900insG	ENST00000538528.1	-	0	719_720																											GAGAAGGCAGTGGGGGTCATTC	0.619																																																	0																																												0																															6.37:g.168376904_168376904dupG				RNA	INS	-	NULL	ENST00000538528.1	37	NULL		6																																																																																			RP3-470B24.5	-	-	ENSG00000235994		0.619	RP3-470B24.5-201	KNOWN	basic	lincRNA	ENSG00000235994	Clone_based_vega_gene	lincRNA			0.00	27	0	-			168376900	-1	tier1		no_errors	ENST00000538528	ensembl	human	known	74_37	rna	29.79	33	14	INS	0.995:0.987	G
GCSAML	148823	genome.wustl.edu	37	1	247729207	247729209	+	Intron	DEL	TTT	TTT	-	rs538995820|rs571531888|rs367904043	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:247729207_247729209delTTT	ENST00000366488.4	+	4	243				GCSAML_ENST00000366491.2_Intron|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000536561.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000527084.1_Intron	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like																		CCTTTCTTTCTTTTTTTTTTTTT	0.33														6	0.00119808	0.0023	0.0	5008	,	,		18277	0.0		0.0	False		,,,				2504	0.0031																0																																										SO:0001627	intron_variant	0			AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.140-24TTT>-	1.37:g.247729216_247729218delTTT			B2R4Y5|B3KX46|Q5JQT3	RNA	DEL	-	NULL	ENST00000366488.4	37	NULL	CCDS1635.1	1																																																																																			RP11-978I15.10	-	-	ENSG00000236817		0.330	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000236817	Clone_based_vega_gene	protein_coding	OTTHUMT00000097745.4		0.00	40	0	TTT	NM_145278		247729209	-1	tier1		no_errors	ENST00000435333	ensembl	human	known	74_37	rna	17.86	23	5	DEL	0.000:0.000:0.001	-
RP5-947P14.1	0	genome.wustl.edu	37	1	106623841	106623841	+	lincRNA	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:106623841G>A	ENST00000437803.1	+	0	165																											GATGGGCCGCGTCTGCTGCTC	0.612																																																	0																																												0																															1.37:g.106623841G>A				RNA	SNP	-	NULL	ENST00000437803.1	37	NULL		1																																																																																			RP5-947P14.1	-	-	ENSG00000237480		0.612	RP5-947P14.1-001	KNOWN	basic	lincRNA	ENSG00000237480	Clone_based_vega_gene	lincRNA	OTTHUMT00000030361.1	-	0.00	63	0	G			106623841	+1	tier1	-	no_errors	ENST00000429608	ensembl	human	known	74_37	rna	21.95	64	18	SNP	0.980	A
ACSL6	23305	genome.wustl.edu	37	5	131281107	131281107	+	IGR	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:131281107G>A	ENST00000379249.3	-	0	2148				AC034228.7_ENST00000411822.1_RNA|AC034228.4_ENST00000446275.1_RNA			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6						acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGGGGCCTCGGCCTTCGCTGG	0.682																																																	0																																										SO:0001628	intergenic_variant	0			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692		5.37:g.131281107G>A			J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	RNA	SNP	-	NULL	ENST00000379249.3	37	NULL		5																																																																																			AC034228.7	-	-	ENSG00000239642		0.682	ACSL6-202	KNOWN	basic	protein_coding	ENSG00000239642	Clone_based_vega_gene	protein_coding		-	0.00	27	0	G	NM_015256		131281107	-1	tier1	-	no_errors	ENST00000411822	ensembl	human	known	74_37	rna	78.67	16	59	SNP	0.000	A
RP11-464F9.1	0	genome.wustl.edu	37	10	75487193	75487193	+	RNA	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:75487193C>T	ENST00000399449.3	-	0	284				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							TAGTGGAGTTCGATCAACCAC	0.408																																																	0																																												0																															10.37:g.75487193C>T				RNA	SNP	-	NULL	ENST00000399449.3	37	NULL		10																																																																																			RP11-464F9.1	-	-	ENSG00000242288		0.408	RP11-464F9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000242288	Clone_based_vega_gene	processed_transcript	OTTHUMT00000048674.2	-	0.00	84	0	C			75487193	-1	tier1	-	no_errors	ENST00000399449	ensembl	human	known	74_37	rna	16.50	86	17	SNP	1.000	T
BMS1P17	101101776	genome.wustl.edu	37	14	19891212	19891213	+	lincRNA	DEL	TG	TG	-	rs368663251		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:19891212_19891213delTG	ENST00000552602.1	-	0	293																											TGAGCCAGCTTGTGTGTGTGTG	0.51																																																	0																																												0																															14.37:g.19891222_19891223delTG				RNA	DEL	-	NULL	ENST00000552602.1	37	NULL		14																																																																																			CTD-2314B22.3	-	-	ENSG00000244306		0.510	CTD-2314B22.3-003	KNOWN	basic	lincRNA	ENSG00000244306	Clone_based_vega_gene	lincRNA	OTTHUMT00000409412.1		0.00	44	0	TG			19891213	-1			no_errors	ENST00000547285	ensembl	human	known	74_37	rna	9.30	78	8	DEL	0.020:0.023	0
RAB1B	81876	genome.wustl.edu	37	11	66039143	66039143	+	Intron	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:66039143delA	ENST00000311481.6	+	2	161				RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Intron	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family						ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						ccttattgctaaaaaaaaaat	0.498																																																	0																																										SO:0001627	intron_variant	0			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.15-125A>-	11.37:g.66039143delA			A8K7S1	RNA	DEL	-	NULL	ENST00000311481.6	37	NULL	CCDS31613.1	11																																																																																			RP11-867G23.3	-	-	ENSG00000245156		0.498	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000245156	Clone_based_vega_gene	protein_coding	OTTHUMT00000391886.2		0.00	13	0	A	NM_030981		66039143	-1	tier1		no_errors	ENST00000501708	ensembl	human	known	74_37	rna	39.19	45	29	DEL	0.020	-
LILRA4	23547	genome.wustl.edu	37	19	54848431	54848431	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:54848431C>T	ENST00000291759.4	-	6	1009				AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AAAAGAAGGACGGGTGAGGGG	0.612																																																	0													33.0	36.0	35.0					19																	54848431		2203	4300	6503	SO:0001627	intron_variant	0			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.953-17G>A	19.37:g.54848431C>T			Q32MC4	RNA	SNP	-	NULL	ENST00000291759.4	37	NULL	CCDS12890.1	19																																																																																			AC008984.2	-	-	ENSG00000248166		0.612	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248166	Clone_based_vega_gene	protein_coding	OTTHUMT00000140229.2	-	0.00	32	0	C	NM_012276		54848431	-1	tier1	-	no_errors	ENST00000507363	ensembl	human	known	74_37	rna	76.47	12	39	SNP	0.000	T
RGS12	6002	genome.wustl.edu	37	4	3314644	3314644	+	5'Flank	DEL	A	A	-	rs76913216		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:3314644delA	ENST00000344733.5	+	0	0				RGS12_ENST00000543385.1_Intron|RGS12_ENST00000336727.3_5'Flank|RP11-357G3.2_ENST00000600073.1_RNA	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12						positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTTTTCTCCAAAAAAAAAAA	0.433																																																	0																																										SO:0001631	upstream_gene_variant	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277		4.37:g.3314644delA	Exception_encountered		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	RNA	DEL	-	NULL	ENST00000344733.5	37	NULL	CCDS3366.1	4																																																																																			RP11-357G3.2	-	-	ENSG00000248840		0.433	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000248840	Clone_based_vega_gene	protein_coding	OTTHUMT00000206602.1		0.00	9	0	A	NM_002926		3314644	+1	tier1		no_errors	ENST00000600073	ensembl	human	known	74_37	rna	56.25	7	9	DEL	0.004	-
RP11-184E9.1	0	genome.wustl.edu	37	5	25190618	25190618	+	lincRNA	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:25190618C>T	ENST00000502100.2	+	0	0				RP11-549K20.1_ENST00000507600.1_lincRNA																							CGCCCAATGGCGACAGAGTGG	0.642																																																	0																																												0																															5.37:g.25190618C>T				RNA	SNP	-	NULL	ENST00000502100.2	37	NULL		5																																																																																			RP11-549K20.1	-	-	ENSG00000251273		0.642	RP11-184E9.1-001	KNOWN	basic	lincRNA	ENSG00000251273	Clone_based_vega_gene	lincRNA	OTTHUMT00000366522.1	-	0.00	27	0	C			25190618	-1	tier1	-	no_errors	ENST00000507600	ensembl	human	known	74_37	rna	13.91	99	16	SNP	0.024	T
RP11-119D9.1	0	genome.wustl.edu	37	11	67656343	67656343	+	lincRNA	DEL	C	C	-	rs183901859	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:67656343delC	ENST00000511677.1	+	0	914																											tcaggtggcaccccccctaca	0.572																																																	0																																												0																															11.37:g.67656343delC				RNA	DEL	-	NULL	ENST00000511677.1	37	NULL		11																																																																																			RP11-119D9.1	-	-	ENSG00000251637		0.572	RP11-119D9.1-001	KNOWN	basic	lincRNA	ENSG00000251637	Clone_based_vega_gene	lincRNA	OTTHUMT00000393800.1		0.00	32	0	C			67656343	+1	tier1		no_errors	ENST00000511677	ensembl	human	known	74_37	rna	58.16	41	57	DEL	0.000	-
TUB	7275	genome.wustl.edu	37	11	8060205	8060205	+	5'UTR	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:8060205G>T	ENST00000305253.4	+	0	26				RP11-236J17.6_ENST00000528151.1_RNA|TUB_ENST00000534099.1_Intron|RP11-236J17.6_ENST00000526646.1_RNA	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor						multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TGGTCCTGAAGGGTTTGGGGG	0.527																																																	0																																										SO:0001623	5_prime_UTR_variant	0			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000305253.4:c.-216G>T	11.37:g.8060205G>T			D3DQU4|O00293|Q6B007	RNA	SNP	-	NULL	ENST00000305253.4	37	NULL	CCDS7786.1	11																																																																																			RP11-236J17.6	-	-	ENSG00000254921		0.527	TUB-002	KNOWN	basic|CCDS	protein_coding	ENSG00000254921	Clone_based_vega_gene	protein_coding	OTTHUMT00000385822.1	-	0.00	18	0	G	NM_003320		8060205	-1	tier1	-	no_errors	ENST00000528151	ensembl	human	known	74_37	rna	61.54	5	8	SNP	0.103	T
PPP1R16A	84988	genome.wustl.edu	37	8	145724495	145724495	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:145724495C>T	ENST00000292539.4	+	4	1393				PPP1R16A_ENST00000435887.1_Intron|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A							plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTCAGATGGCCGCTCAGGAGG	0.652																																																	0													13.0	12.0	12.0					8																	145724495		2190	4276	6466	SO:0001627	intron_variant	0				CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.476+51C>T	8.37:g.145724495C>T			D3DWM5	RNA	SNP	-	NULL	ENST00000292539.4	37	NULL	CCDS6429.1	8																																																																																			CTD-2517M22.14	-	-	ENSG00000255182		0.652	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255182	Clone_based_vega_gene	protein_coding	OTTHUMT00000382459.1	-	0.00	16	0	C	NM_032902		145724495	-1	tier1	-	no_errors	ENST00000527086	ensembl	human	known	74_37	rna	42.86	20	15	SNP	0.000	T
LEFTY1	10637	genome.wustl.edu	37	1	226075158	226075158	+	Silent	SNP	C	C	T	rs145906534		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:226075158C>T	ENST00000272134.5	-	3	757	c.678G>A	c.(676-678)gcG>gcA	p.A226A	LEFTY1_ENST00000492457.1_5'Flank|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.A335T	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	226					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GCCCGGCTGGCGCCCCCTGCG	0.672																																																	0													22.0	27.0	25.0					1																	226075158		2201	4294	6495	SO:0001819	synonymous_variant	0			AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.678G>A	1.37:g.226075158C>T			B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	superfamily_6-PGluconate_DH_C-like	p.A335T	ENST00000272134.5	37	c.1003	CCDS1548.1	1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269728	0.23221	.	.	ENSG00000255835	ENST00000432920	T	0.81415	-1.49	3.69	-7.37	0.01412	.	0.527879	0.21087	N	0.080392	T	0.60792	0.2296	.	.	.	0.19300	N	0.999976	B	0.06786	0.001	B	0.01281	0.0	T	0.43327	-0.9398	9	0.87932	D	0	.	2.6792	0.05089	0.4854:0.1126:0.2519:0.1502	.	335	E7EUD8	.	T	335	ENSP00000414068:A335T	ENSP00000414068:A335T	A	-	1	0	RP4-559A3.7	224141781	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.451000	0.06795	-1.644000	0.01517	0.313000	0.20887	GCC	RP4-559A3.7	-	NULL	ENSG00000255835		0.672	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255835	Clone_based_vega_gene	protein_coding	OTTHUMT00000091155.1	-	0.00	24	0	C	NM_020997		226075158	-1	tier1	-	no_errors	ENST00000432920	ensembl	human	putative	74_37	missense	25.93	20	7	SNP	0.000	T
MACROD1	28992	genome.wustl.edu	37	11	63886077	63886079	+	Intron	DEL	TTC	TTC	-	rs564377790	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:63886077_63886079delTTC	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_3'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TTTTTTTTTTTTCCCCCCTGAAC	0.468																																																	0																																										SO:0001627	intron_variant	0			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+32631GAA>-	11.37:g.63886077_63886079delTTC			Q9UH96	RNA	DEL	-	NULL	ENST00000255681.6	37	NULL	CCDS8056.1	11																																																																																			RP11-21A7A.3	-	-	ENSG00000256341		0.468	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256341	Clone_based_vega_gene	protein_coding	OTTHUMT00000396570.1		0.00	51	0	TTC	NM_014067		63886079	-1	tier1		no_errors	ENST00000543817	ensembl	human	known	74_37	rna	14.29	72	12	DEL	0.030:0.040:0.008	-
MACROD1	28992	genome.wustl.edu	37	11	63886078	63886079	+	Intron	DEL	TC	TC	-	rs564377790	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:63886078_63886079delTC	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_3'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TTTTTTTTTTTCCCCCCTGAAC	0.47																																																	0																																										SO:0001627	intron_variant	0			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+32631GA>-	11.37:g.63886078_63886079delTC			Q9UH96	RNA	DEL	-	NULL	ENST00000255681.6	37	NULL	CCDS8056.1	11																																																																																			RP11-21A7A.3	-	-	ENSG00000256341		0.470	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256341	Clone_based_vega_gene	protein_coding	OTTHUMT00000396570.1		0.00	50	0	TC	NM_014067		63886079	-1	tier1		no_errors	ENST00000543817	ensembl	human	known	74_37	rna	15.28	61	11	DEL	0.040:0.008	-
RP11-807H22.5	0	genome.wustl.edu	37	11	71870646	71870646	+	RNA	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:71870646T>C	ENST00000542477.2	+	0	470																											CATCCAGATGTGGTTCGACCT	0.597																																																	0																																												0																															11.37:g.71870646T>C				RNA	SNP	-	NULL	ENST00000542477.2	37	NULL		11																																																																																			RP11-807H22.5	-	-	ENSG00000256518		0.597	RP11-807H22.5-002	KNOWN	basic	processed_transcript	ENSG00000256518	Clone_based_vega_gene	pseudogene	OTTHUMT00000396767.2	-	0.00	27	0	T			71870646	+1	tier1	-	no_errors	ENST00000542477	ensembl	human	known	74_37	rna	40.82	29	20	SNP	1.000	C
KCNC2	3747	genome.wustl.edu	37	12	75435987	75435988	+	3'UTR	DEL	TT	TT	-	rs537467144		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:75435987_75435988delTT	ENST00000549446.1	-	0	3494_3495				KCNC2_ENST00000548513.1_Intron|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000350228.2_Intron|RP11-81K13.1_ENST00000547040.1_RNA|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000550433.1_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2						action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	ACCCTGGGTATTTTTTTTTTTT	0.371																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.*898AA>-	12.37:g.75435997_75435998delTT			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	RNA	DEL	-	NULL	ENST00000549446.1	37	NULL	CCDS9007.1	12																																																																																			RP11-81K13.1	-	-	ENSG00000257434		0.371	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000257434	Clone_based_vega_gene	protein_coding	OTTHUMT00000405581.2		0.00	17	0	TT	NM_153748		75435988	+1	tier1		no_errors	ENST00000547040	ensembl	human	known	74_37	rna	37.93	18	11	DEL	0.005:0.007	-
JPH4	84502	genome.wustl.edu	37	14	24037246	24037246	+	3'UTR	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:24037246C>T	ENST00000356300.4	-	0	4275				AP1G2_ENST00000556277.1_5'Flank|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_5'Flank|JPH4_ENST00000397118.3_Intron|AP1G2_ENST00000308724.5_5'UTR	NM_001146028.1	NP_001139500.1	Q96JJ6	JPH4_HUMAN	junctophilin 4						calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AATCCCCCCCCTTTTTTGAAC	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000356300.4:c.*1597G>A	14.37:g.24037246C>T			D3DS53|Q8ND44|Q96DQ0	RNA	SNP	-	NULL	ENST00000356300.4	37	NULL	CCDS9603.1	14																																																																																			RP11-66N24.3	-	-	ENSG00000258727		0.413	JPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258727	Clone_based_vega_gene	protein_coding	OTTHUMT00000071838.3	-	0.00	34	0	C	NM_032452		24037246	+1	tier1	-	no_errors	ENST00000555968	ensembl	human	known	74_37	rna	5.32	89	5	SNP	0.971	T
CYB5B	80777	genome.wustl.edu	37	16	69499982	69499982	+	3'UTR	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:69499982delT	ENST00000512062.1	+	0	4171				CYB5B_ENST00000307892.8_3'UTR|RP11-140H17.1_ENST00000567834.1_RNA			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)						oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				TTAACTTCCCTTTTTTTTTAA	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.*3559T>-	16.37:g.69499982delT			A8K6B1|Q96CC3|Q9BT35	RNA	DEL	-	NULL	ENST00000512062.1	37	NULL		16																																																																																			RP11-140H17.1	-	-	ENSG00000260108		0.368	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	ENSG00000260108	Clone_based_vega_gene	protein_coding	OTTHUMT00000256606.2		0.00	86	0	T	NM_030579		69499982	+1	tier1		no_errors	ENST00000567834	ensembl	human	known	74_37	rna	11.95	140	19	DEL	0.053	-
PDPK1	5170	genome.wustl.edu	37	16	2647921	2647922	+	3'UTR	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:2647921_2647922insA	ENST00000342085.4	+	0	1973_1974				PDPK1_ENST00000441549.3_3'UTR|PDPK1_ENST00000389224.3_3'UTR|PDPK1_ENST00000268673.7_3'UTR|CTD-3126B10.1_ENST00000562166.1_RNA	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1						actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	AAGAAAAGAAGAAAAAAAACAC	0.5																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.*154->A	16.37:g.2647929_2647929dupA			H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	RNA	INS	-	NULL	ENST00000342085.4	37	NULL	CCDS10472.1	16																																																																																			CTD-3126B10.1	-	-	ENSG00000261093		0.500	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261093	Clone_based_vega_gene	protein_coding	OTTHUMT00000250831.3		0.00	19	0	-			2647922	-1	tier1		no_errors	ENST00000562166	ensembl	human	known	74_37	rna	40.00	18	12	INS	0.705:0.576	A
NFATC3	4775	genome.wustl.edu	37	16	68262364	68262364	+	3'UTR	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:68262364T>C	ENST00000346183.3	+	0	5242				RP11-96D1.10_ENST00000571975.1_RNA|RP11-96D1.11_ENST00000571197.1_RNA|NFATC3_ENST00000329524.4_3'UTR|NFATC3_ENST00000349223.5_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3						cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTTTGTGCCCTCAAGAATTAA	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	0			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.*1990T>C	16.37:g.68262364T>C			O75211|Q14516|Q99840|Q99841|Q99842	RNA	SNP	-	NULL	ENST00000346183.3	37	NULL	CCDS10860.1	16																																																																																			RP11-96D1.11	-	-	ENSG00000262160		0.453	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262160	Clone_based_vega_gene	protein_coding	OTTHUMT00000268890.2	-	0.00	11	0	T	NM_004555		68262364	-1	tier1	-	no_errors	ENST00000571197	ensembl	human	known	74_37	rna	43.90	23	18	SNP	1.000	C
FAM120A	23196	genome.wustl.edu	37	9	96327977	96327978	+	3'UTR	DEL	AA	AA	-	rs577003699	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:96327977_96327978delAA	ENST00000277165.6	+	0	4706_4707				AL353629.1_ENST00000582353.1_RNA|FAM120A_ENST00000333936.5_3'UTR|FAM120A_ENST00000340893.4_3'UTR	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A							cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTTGATCTTAAAAAAAAAAAA	0.347																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.*1156AA>-	9.37:g.96327987_96327988delAA			A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	RNA	DEL	-	NULL	ENST00000277165.6	37	NULL	CCDS6706.1	9																																																																																			AL353629.1	-	-	ENSG00000263875		0.347	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263875	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000053160.2		0.00	27	0	AA	NM_014612		96327978	-1	tier1		no_errors	ENST00000582353	ensembl	human	novel	74_37	rna	41.38	17	12	DEL	0.979:1.000	-
YPEL2	388403	genome.wustl.edu	37	17	57477848	57477849	+	3'UTR	DEL	TT	TT	-	rs3835025	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:57477848_57477849delTT	ENST00000312655.4	+	0	3975_3976				RP11-567L7.5_ENST00000585190.1_RNA	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)							nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATGTTTTCAGTTTTTTTTTTTT	0.342																																					Melanoma(86;1113 1364 8518 42220 42625)												0																																										SO:0001624	3_prime_UTR_variant	0			AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.*3298TT>-	17.37:g.57477858_57477859delTT			A0PK16|A2RUG4|Q65ZA0|Q8N3W2	RNA	DEL	-	NULL	ENST00000312655.4	37	NULL	CCDS32695.1	17																																																																																			RP11-567L7.5	-	-	ENSG00000266002		0.342	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266002	Clone_based_vega_gene	protein_coding	OTTHUMT00000446032.1		0.00	29	0	TT	XM_371070		57477849	-1	tier1		no_errors	ENST00000585190	ensembl	human	known	74_37	rna	34.62	17	9	DEL	0.648:0.971	-
RP11-51L5.5	0	genome.wustl.edu	37	17	60364132	60364132	+	RNA	SNP	G	G	A	rs555294483		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:60364132G>A	ENST00000602493.1	-	0	707																											GCTGAAACCCGTTAAACCTGG	0.388													.|||	1	0.000199681	0.0	0.0	5008	,	,		18142	0.0		0.0	False		,,,				2504	0.001																0																																												0																															17.37:g.60364132G>A				RNA	SNP	-	NULL	ENST00000602493.1	37	NULL		17																																																																																			RP11-51L5.5	-	-	ENSG00000263887		0.388	RP11-51L5.5-002	KNOWN	basic	processed_transcript	ENSG00000263887	Clone_based_vega_gene	pseudogene	OTTHUMT00000467668.1	-	0.00	79	0	G			60364132	-1	tier1	-	no_errors	ENST00000602493	ensembl	human	known	74_37	rna	22.58	72	21	SNP	1.000	A
ZNF66	7617	genome.wustl.edu	37	19	20988370	20988370	+	Intron	DEL	T	T	-	rs556849654|rs34028361	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:20988370delT	ENST00000344519.8	+	4	249				AC010329.1_ENST00000582722.1_RNA|ZNF66_ENST00000425625.1_Intron			Q6ZN08	ZNF66_HUMAN	zinc finger protein 66						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGTAACAGACTTTTTTTTTTT	0.373													|||unknown(NO_COVERAGE)	562	0.11222	0.152	0.0908	5008	,	,		18132	0.0506		0.1213	False		,,,				2504	0.1278																0																																										SO:0001627	intron_variant	0			M88375		19p12	2013-03-06	2013-03-06	2013-03-06	ENSG00000160229	ENSG00000160229			13135	other	unknown			"""zinc finger protein 66, pseudogene"""	ZNF66P		1505991	Standard	NG_023377		Approved	FLJ16537	uc002npe.3	Q6ZN08	OTTHUMG00000167735	ENST00000344519.8:c.227-263T>-	19.37:g.20988370delT			I3L4P5|Q15939	RNA	DEL	-	NULL	ENST00000344519.8	37	NULL		19																																																																																			AC010329.1	-	-	ENSG00000266156		0.373	ZNF66-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000266156	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000395955.2		0.00	12	0	T	NG_023377		20988370	+1	tier1		no_errors	ENST00000582722	ensembl	human	novel	74_37	rna	75.00	3	9	DEL	0.001	-
MLLT1	4298	genome.wustl.edu	37	19	6210417	6210418	+	IGR	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:6210417_6210418insT	ENST00000252674.7	-	0	1931				CTC-503J8.6_ENST00000586154.1_lincRNA|MLLT1_ENST00000585588.1_5'Flank	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1						negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CTTTATTTCACTTTTTTTTTCT	0.446			T	MLL	AL																																			Dom	yes		19	19p13.3	4298	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""		L	0																																										SO:0001628	intergenic_variant	0				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757		19.37:g.6210426_6210426dupT			Q14768	RNA	INS	-	NULL	ENST00000252674.7	37	NULL	CCDS12160.1	19																																																																																			CTC-503J8.6	-	-	ENSG00000267427		0.446	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267427	Clone_based_vega_gene	protein_coding	OTTHUMT00000452909.1		0.00	18	0	-	NM_005934		6210418	-1	tier1		no_errors	ENST00000586154	ensembl	human	known	74_37	rna	20.00	28	7	INS	0.998:0.999	T
PTOV1	53635	genome.wustl.edu	37	19	50363638	50363639	+	3'UTR	INS	-	-	G	rs139090214|rs577978306	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:50363638_50363639insG	ENST00000391842.1	+	0	1523_1524				PTOV1_ENST00000221557.9_3'UTR|PTOV1_ENST00000599732.1_Intron|AC018766.5_ENST00000601893.1_RNA|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601675.1_Intron|PTOV1_ENST00000598325.1_Intron|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000601638.1_Intron|PTOV1_ENST00000600603.1_Intron|AC018766.4_ENST00000596624.1_RNA	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CTGGGGCATGTGGGGGGGGTGG	0.658													GGGGGG|GGGGGGGG|GGGGGGGGG|cryptic_indel	62	0.0123802	0.0356	0.0043	5008	,	,		13623	0.002		0.001	False		,,,				2504	0.0092																0																																										SO:0001624	3_prime_UTR_variant	0			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000391842.1:c.*103->G	19.37:g.50363646_50363646dupG			Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	RNA	INS	-	NULL	ENST00000391842.1	37	NULL	CCDS12782.1	19																																																																																			AC018766.4	-	-	ENSG00000267896		0.658	PTOV1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267896	Clone_based_vega_gene	protein_coding			0.00	20	0	-	NM_017432		50363639	-1	tier1		no_errors	ENST00000596624	ensembl	human	known	74_37	rna	29.17	17	7	INS	0.000:0.000	G
RAB8A	4218	genome.wustl.edu	37	19	16244264	16244264	+	3'UTR	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:16244264delT	ENST00000300935.3	+	0	2047				HSH2D_ENST00000397372.4_5'Flank|CTD-2231E14.8_ENST00000599676.1_RNA|CTD-2231E14.8_ENST00000597983.1_RNA|HSH2D_ENST00000593154.2_5'Flank|HSH2D_ENST00000253680.6_5'Flank	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family						axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						tttttctttcttttttttttt	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.*1150T>-	19.37:g.16244264delT			B4DEK7|P24407|Q6FHV5	RNA	DEL	-	NULL	ENST00000300935.3	37	NULL	CCDS12339.1	19																																																																																			CTD-2231E14.8	-	-	ENSG00000269243		0.453	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269243	Clone_based_vega_gene	protein_coding	OTTHUMT00000460186.1		0.00	9	0	T	NM_005370		16244264	-1	tier1		no_errors	ENST00000599676	ensembl	human	known	74_37	rna	37.50	15	9	DEL	0.000	-
MPND	84954	genome.wustl.edu	37	19	4357145	4357145	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:4357145C>T	ENST00000262966.8	+	9	1063				MPND_ENST00000599840.1_Intron|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000359935.4_Intron	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing								peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		cactgtgtccccaggcctgat	0.582																																																	0																																										SO:0001627	intron_variant	0				CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.997-105C>T	19.37:g.4357145C>T			Q96SJ0|Q9Y2P1|Q9Y2P2	RNA	SNP	-	NULL	ENST00000262966.8	37	NULL	CCDS42470.1	19																																																																																			AC007292.3	-	-	ENSG00000269318		0.582	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000269318	Clone_based_vega_gene	protein_coding	OTTHUMT00000458292.1	-	0.00	31	0	C	NM_032868		4357145	-1	tier1	-	no_errors	ENST00000593524	ensembl	human	known	74_37	rna	82.50	7	33	SNP	0.014	T
FEM1A	55527	genome.wustl.edu	37	19	4794097	4794097	+	3'UTR	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:4794097C>T	ENST00000269856.3	+	0	2370				AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)						negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGTCTTTCTCCGGGAGCCCGC	0.567																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.*221C>T	19.37:g.4794097C>T			B2RDI3|Q711P8|Q9NPN7|Q9NPW8	RNA	SNP	-	NULL	ENST00000269856.3	37	NULL	CCDS12135.1	19																																																																																			AC005523.2	-	-	ENSG00000269604		0.567	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269604	Clone_based_vega_gene	protein_coding	OTTHUMT00000459000.1	-	0.00	52	0	C			4794097	-1	tier1	-	no_errors	ENST00000601192	ensembl	human	known	74_37	rna	52.63	36	40	SNP	0.000	T
PPP1R3E	90673	genome.wustl.edu	37	14	23764733	23764733	+	IGR	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:23764733delA	ENST00000452015.4	-	0	4773				HOMEZ_ENST00000431326.2_5'Flank|PPP1R3E_ENST00000561426.1_5'Flank|HOMEZ_ENST00000561013.1_Intron|RP11-124D2.7_ENST00000604456.1_RNA	NM_001276318.1	NP_001263247.1	Q9H7J1	PPR3E_HUMAN	protein phosphatase 1, regulatory subunit 3E						glycogen metabolic process (GO:0005977)												CTTCATTCTTAAAAAAAAAAA	0.403																																																	0																																										SO:0001628	intergenic_variant	0			AK024489	CCDS61403.1	14q11.2	2013-01-29	2011-10-04		ENSG00000235194	ENSG00000235194		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14943	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3E"""			11948623, 15752363	Standard	NM_001276318		Approved	FLJ00089	uc031qns.1	Q9H7J1	OTTHUMG00000172116		14.37:g.23764733delA			D3DS47	RNA	DEL	-	NULL	ENST00000452015.4	37	NULL		14																																																																																			RP11-124D2.7	-	-	ENSG00000270433		0.403	PPP1R3E-001	KNOWN	NMD_exception|basic|appris_principal|readthrough_transcript	protein_coding	ENSG00000270433	Clone_based_vega_gene	protein_coding	OTTHUMT00000416883.2		0.00	16	0	A			23764733	+1	tier1		no_errors	ENST00000604456	ensembl	human	known	74_37	rna	34.29	23	12	DEL	0.835	-
POLR2J4	84820	genome.wustl.edu	37	7	44053949	44053949	+	RNA	SNP	G	G	A	rs564308986		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:44053949G>A	ENST00000427076.1	-	0	357				RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000326391.6_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		GTAGGTCCCCGCCCTGATCTG	0.642													g|||	1	0.000199681	0.0008	0.0	5008	,	,		15408	0.0		0.0	False		,,,				2504	0.0																0																																												0					7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44053949G>A				RNA	SNP	-	NULL	ENST00000427076.1	37	NULL		7																																																																																			POLR2J4	-	-	ENSG00000272655		0.642	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000272655	Clone_based_vega_gene	processed_transcript	OTTHUMT00000473169.1	-	0.00	26	0	G	NR_003655		44053949	-1	tier1	-	no_errors	ENST00000326391	ensembl	human	known	74_37	rna	34.33	44	23	SNP	0.001	A
GS1-259H13.2	100289187	genome.wustl.edu	37	7	99197892	99197892	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:99197892T>C	ENST00000455905.1	+	3	318	c.198T>C	c.(196-198)atT>atC	p.I66I	GS1-259H13.2_ENST00000431679.1_lincRNA|GS1-259H13.10_ENST00000486324.1_3'UTR																							TGGCCTACATTGGGAGTGGGG	0.532																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000455905.1:c.198T>C	7.37:g.99197892T>C				Silent	SNP	NULL	p.I66	ENST00000455905.1	37	c.198		7																																																																																			GS1-259H13.10	-	NULL	ENSG00000272647		0.532	GS1-259H13.10-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	ENSG00000272647	Clone_based_vega_gene	protein_coding	OTTHUMT00000344945.1	-	0.00	75	0	T			99197892	+1	tier1	-	no_errors	ENST00000455905	ensembl	human	known	74_37	silent	22.66	99	29	SNP	0.000	C
PPP2R3A	5523	genome.wustl.edu	37	3	135806703	135806703	+	Intron	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:135806703delT	ENST00000264977.3	+	9	3405				RP11-305O4.3_ENST00000608883.1_RNA|PPP2R3A_ENST00000334546.2_Intron|PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha						eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCTTTGCAATTTTTTTTTTA	0.338																																																	0									,,	347,621,3298		24,0,299,304,13,1493	126.0	124.0	125.0		,,	-0.2	0.0	3	dbSNP_134	125	17,1293,6942		0,0,17,637,19,3453	no	intron,intron,intron	PPP2R3A	NM_181897.2,NM_002718.4,NM_001190447.1	,,	24,0,316,941,32,4946	A1A1,A1A2,A1R,A2A2,A2R,RR		15.8749,22.691,18.1978	,,	,,	135806703	364,1914,10240	2203	4299	6502	SO:0001627	intron_variant	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2789-22T>-	3.37:g.135806703delT			A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	RNA	DEL	-	NULL	ENST00000264977.3	37	NULL	CCDS3087.1	3																																																																																			RP11-305O4.3	-	-	ENSG00000273455		0.338	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000273455	Clone_based_vega_gene	protein_coding	OTTHUMT00000357232.1		0.00	42	0	T	NM_002718		135806703	-1	tier1		no_errors	ENST00000608883	ensembl	human	known	74_37	rna	38.71	38	24	DEL	0.004	-
CC2D2B	387707	genome.wustl.edu	37	10	97779109	97779109	+	Intron	DEL	A	A	-	rs374269915		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:97779109delA	ENST00000344386.3	+	7	821				ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B											large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		GTATATGGGGAAAAAAAATCT	0.383																																																	0									,	4,3526		0,4,1761	89.0	88.0	88.0		,	-1.5	0.0	10		90	1,7817		0,1,3908	no	intron,intron	CC2D2B	NM_001159747.1,NM_001001732.3	,	0,5,5669	A1A1,A1R,RR		0.0128,0.1133,0.0441	,	,	97779109	5,11343	1829	4082	5911	SO:0001627	intron_variant	0			BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.657+15A>-	10.37:g.97779109delA			A2A3E9|B4DYD4|E9PCC3|Q5VUS0	RNA	DEL	-	NULL	ENST00000344386.3	37	NULL	CCDS41555.1	10																																																																																			ENTPD1-AS1	-	-	ENSG00000226688		0.383	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENTPD1-AS1	HGNC	protein_coding	OTTHUMT00000049573.3		0.00	36	0	A	NM_001001732		97779109	-1	tier1		no_errors	ENST00000458228	ensembl	human	known	74_37	rna	27.27	24	9	DEL	0.000	-
EPG5	57724	genome.wustl.edu	37	18	43459143	43459143	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:43459143delA	ENST00000282041.5	-	33	5738	c.5704delT	c.(5704-5706)tatfs	p.Y1902fs	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1902					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CGAAGCTTATAAAAAAAGTCT	0.343																																																	0													67.0	65.0	66.0					18																	43459143		1802	4070	5872	SO:0001589	frameshift_variant	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5704delT	18.37:g.43459143delA	ENSP00000282041:p.Tyr1902fs		A2BDF3|Q9H8C8	Frame_Shift_Del	DEL	NULL	p.Y1902fs	ENST00000282041.5	37	c.5704	CCDS11926.2	18																																																																																			EPG5	-	NULL	ENSG00000152223		0.343	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1		0.00	28	0	A	NM_020964		43459143	-1	tier1		no_errors	ENST00000282041	ensembl	human	known	74_37	frame_shift_del	17.24	24	5	DEL	1.000	-
EPHA8	2046	genome.wustl.edu	37	1	22903132	22903133	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:22903132_22903133insCT	ENST00000166244.3	+	3	654_655	c.582_583insCT	c.(583-585)ctcfs	p.L195fs	EPHA8_ENST00000374644.4_Frame_Shift_Ins_p.L195fs|EPHA8_ENST00000538803.1_Frame_Shift_Ins_p.L195fs	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	195	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCTGGCCATCCTCTCTCTCCG	0.624																																																	0																																										SO:0001589	frameshift_variant	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.589_590dupCT	1.37:g.22903139_22903140dupCT	ENSP00000166244:p.Leu195fs		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Frame_Shift_Ins	INS	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R197fs	ENST00000166244.3	37	c.582_583	CCDS225.1	1																																																																																			EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000070886		0.624	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1		0.00	49	0	-	NM_020526		22903133	+1	tier1		no_errors	ENST00000166244	ensembl	human	known	74_37	frame_shift_ins	20.31	51	13	INS	1.000:1.000	CT
EPPK1	83481	genome.wustl.edu	37	8	144942928	144942928	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:144942928C>T	ENST00000525985.1	-	2	4565	c.4494G>A	c.(4492-4494)ctG>ctA	p.L1498L				P58107	EPIPL_HUMAN	epiplakin 1	1498						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACCTGCCGCAGGGCCGCAG	0.677																																																	0													17.0	20.0	19.0					8																	144942928		2143	4251	6394	SO:0001819	synonymous_variant	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4494G>A	8.37:g.144942928C>T			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.L1498	ENST00000525985.1	37	c.4494		8																																																																																			EPPK1	-	NULL	ENSG00000227184		0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1		0.00	12	0	C	NM_031308		144942928	-1			no_errors	ENST00000525985	ensembl	human	known	74_37	silent	7.69	36	3	SNP	0.942	T
EPPK1	83481	genome.wustl.edu	37	8	144947011	144947011	+	Silent	SNP	G	G	A	rs549982161		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:144947011G>A	ENST00000525985.1	-	2	482	c.411C>T	c.(409-411)atC>atT	p.I137I				P58107	EPIPL_HUMAN	epiplakin 1	137						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCTTCCCGATGGCCTGAA	0.682													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18502	0.0		0.0	False		,,,				2504	0.0																0													22.0	26.0	25.0					8																	144947011		1986	4134	6120	SO:0001819	synonymous_variant	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.411C>T	8.37:g.144947011G>A			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.I137	ENST00000525985.1	37	c.411		8																																																																																			EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0.00	34	0	G	NM_031308		144947011	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	silent	28.57	118	48	SNP	0.316	A
EPS15	2060	genome.wustl.edu	37	1	51887719	51887719	+	Intron	DEL	A	A	-	rs574390223|rs11330309	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:51887719delA	ENST00000371733.3	-	13	1137				EPS15_ENST00000396122.4_Intron|EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Intron	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15						cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTCCATTTGTAAAAAAAAAAT	0.269			T	MLL	ALL								|||unknown(HR)	133	0.0265575	0.0643	0.0187	5008	,	,		17591	0.001		0.0308	False		,,,				2504	0.0031							Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)																																								SO:0001627	intron_variant	0			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1041-189T>-	1.37:g.51887719delA			B2R8J7|D3DPJ2|Q5SRH4	RNA	DEL	-	NULL	ENST00000371733.3	37	NULL	CCDS557.1	1																																																																																			EPS15	-	-	ENSG00000085832		0.269	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1		0.00	9	0	A	NM_001981		51887719	-1	tier1		no_errors	ENST00000493793	ensembl	human	known	74_37	rna	37.50	5	3	DEL	0.380	-
ERBB4	2066	genome.wustl.edu	37	2	212248355	212248355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:212248355delC	ENST00000342788.4	-	28	4222	c.3912delG	c.(3910-3912)cggfs	p.R1304fs	ERBB4_ENST00000402597.1_Frame_Shift_Del_p.R1294fs|ERBB4_ENST00000436443.1_Frame_Shift_Del_p.R1288fs	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1304					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CCACAGTATTCCGGTGTCTGT	0.537										TSP Lung(8;0.080)																																							0													60.0	64.0	62.0					2																	212248355		2203	4300	6503	SO:0001589	frameshift_variant	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3912delG	2.37:g.212248355delC	ENSP00000342235:p.Arg1304fs		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Frame_Shift_Del	DEL	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.N1305fs	ENST00000342788.4	37	c.3912	CCDS2394.1	2																																																																																			ERBB4	-	NULL	ENSG00000178568		0.537	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1		0.00	32	0	C	NM_001042599		212248355	-1	tier1		no_errors	ENST00000342788	ensembl	human	known	74_37	frame_shift_del	19.05	34	8	DEL	0.999	-
ERCC6	2074	genome.wustl.edu	37	10	50740752	50740752	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:50740752C>T	ENST00000355832.5	-	2	337	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	PGBD3_ENST00000603152.1_Missense_Mutation_p.A87T|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.A87T|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.A87T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	87					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGGGCCTGGGCGCTAGGCTCT	0.622								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													123.0	108.0	113.0					10																	50740752		2203	4300	6503	SO:0001583	missense	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.259G>A	10.37:g.50740752C>T	ENSP00000348089:p.Ala87Thr		D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A87T	ENST00000355832.5	37	c.259	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953639	0.73902	.	.	ENSG00000225830;ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000462247;ENST00000515869;ENST00000447839	D;T;T;T	0.83335	-1.71;0.78;3.25;3.25	5.8	5.8	0.92144	.	.	.	.	.	D	0.83825	0.5338	M	0.65975	2.015	0.80722	D	1	D;P	0.63046	0.992;0.858	P;B	0.48063	0.565;0.181	T	0.81286	-0.1001	9	0.22109	T	0.4	-17.9234	15.5384	0.76021	0.0:0.8627:0.1373:0.0	.	87;87	E7EV46;Q03468	.;ERCC6_HUMAN	T	87	ENSP00000348089:A87T;ENSP00000422827:A87T;ENSP00000423550:A87T;ENSP00000387966:A87T	ENSP00000348089:A87T	A	-	1	0	ERCC6;RP11-123B3.6	50410758	0.997000	0.39634	0.210000	0.23637	0.491000	0.33493	3.593000	0.54001	2.758000	0.94735	0.563000	0.77884	GCC	ERCC6	-	NULL	ENSG00000225830		0.622	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	-	0.00	54	0	C	NM_000124		50740752	-1	tier1	-	no_errors	ENST00000355832	ensembl	human	known	74_37	missense	39.29	51	33	SNP	0.913	T
ERN2	10595	genome.wustl.edu	37	16	23718096	23718096	+	Frame_Shift_Del	DEL	G	G	-	rs143761786		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:23718096delG	ENST00000457008.2	-	6	504	c.466delC	c.(466-468)cgcfs	p.R156fs	ERN2_ENST00000256797.4_Frame_Shift_Del_p.R204fs					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		ATGTAGAGGCGGGGGGTGGAG	0.607																																																	0													54.0	55.0	55.0					16																	23718096		2195	4300	6495	SO:0001589	frameshift_variant	0			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.466delC	16.37:g.23718096delG	ENSP00000413812:p.Arg156fs			Frame_Shift_Del	DEL	pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.R204fs	ENST00000457008.2	37	c.610		16																																																																																			ERN2	-	superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat	ENSG00000134398		0.607	ERN2-002	NOVEL	basic|exp_conf	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000434886.1		0.00	24	0	G			23718096	-1	tier1		no_errors	ENST00000256797	ensembl	human	known	74_37	frame_shift_del	20.90	53	14	DEL	0.894	-
ERO1LB	56605	genome.wustl.edu	37	1	236399648	236399648	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:236399648G>A	ENST00000354619.5	-	7	757	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	ERO1LB_ENST00000327333.8_3'UTR	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	186					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	CCAGTGTAACGCTCTGGGTTC	0.433																																																	0													148.0	153.0	151.0					1																	236399648		2203	4300	6503	SO:0001583	missense	0			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.556C>T	1.37:g.236399648G>A	ENSP00000346635:p.Arg186Cys		B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	pfam_Ero1,pirsf_Ero1	p.R186C	ENST00000354619.5	37	c.556	CCDS31064.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108721	0.77096	.	.	ENSG00000086619	ENST00000354619;ENST00000366589	T;T	0.52754	0.65;0.65	5.9	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83344	-0.0006	10	0.87932	D	0	-16.1597	14.17	0.65503	0.0:0.0:0.7314:0.2686	.	186	Q86YB8	ERO1B_HUMAN	C	186;67	ENSP00000346635:R186C;ENSP00000355548:R67C	ENSP00000346635:R186C	R	-	1	0	ERO1LB	234466271	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.520000	0.67080	2.786000	0.95864	0.563000	0.77884	CGT	ERO1LB	-	pfam_Ero1,pirsf_Ero1	ENSG00000086619		0.433	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERO1LB	HGNC	protein_coding	OTTHUMT00000096371.1	-	0.00	39	0	G	NM_019891		236399648	-1	tier1	-	no_errors	ENST00000354619	ensembl	human	known	74_37	missense	9.86	64	7	SNP	1.000	A
ESCO1	114799	genome.wustl.edu	37	18	19153489	19153489	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:19153489delA	ENST00000269214.5	-	4	2253	c.1316delT	c.(1315-1317)ttafs	p.L439fs		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	439					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTTTGTCCCTAAAAACGTACT	0.333																																																	0													65.0	67.0	66.0					18																	19153489		2203	4300	6503	SO:0001589	frameshift_variant	0			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1316delT	18.37:g.19153489delA	ENSP00000269214:p.Leu439fs		B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Frame_Shift_Del	DEL	NULL	p.L439fs	ENST00000269214.5	37	c.1316	CCDS32800.1	18																																																																																			ESCO1	-	NULL	ENSG00000141446		0.333	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO1	HGNC	protein_coding	OTTHUMT00000443942.1		0.00	28	0	A	NM_052911		19153489	-1	tier1		no_errors	ENST00000269214	ensembl	human	known	74_37	frame_shift_del	16.33	41	8	DEL	0.592	-
ESRP2	80004	genome.wustl.edu	37	16	68264764	68264764	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:68264764G>T	ENST00000565858.1	-	13	1994	c.1908C>A	c.(1906-1908)aaC>aaA	p.N636K	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.N626K	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	636					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						AGGCTGTGTAGTTCAGGTAGA	0.572																																																	0													199.0	203.0	202.0					16																	68264764		2198	4300	6498	SO:0001583	missense	0			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1908C>A	16.37:g.68264764G>T	ENSP00000454554:p.Asn636Lys		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.N636K	ENST00000565858.1	37	c.1908		16	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338419	0.81911	.	.	ENSG00000103067	ENST00000473183	T	0.10573	2.86	5.94	5.94	0.96194	.	0.138096	0.64402	D	0.000003	T	0.28764	0.0713	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.969	P;P	0.62649	0.905;0.845	T	0.01018	-1.1479	10	0.15952	T	0.53	-24.1516	20.3594	0.98849	0.0:0.0:1.0:0.0	.	636;626	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	K	626	ENSP00000418748:N626K	ENSP00000418748:N626K	N	-	3	2	ESRP2	66822265	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.143000	0.50608	2.816000	0.96949	0.563000	0.77884	AAC	ESRP2	-	NULL	ENSG00000103067		0.572	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1	-	0.00	91	0	G	NM_024939		68264764	-1	tier1	-	no_errors	ENST00000565858	ensembl	human	known	74_37	missense	7.22	167	13	SNP	1.000	T
ETNK2	55224	genome.wustl.edu	37	1	204110634	204110634	+	Intron	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:204110634delG	ENST00000367202.4	-	4	792				ETNK2_ENST00000367201.3_Intron|ETNK2_ENST00000367197.1_5'Flank|RP11-74C13.3_ENST00000433869.1_RNA|ETNK2_ENST00000367198.2_Intron|ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367199.2_Intron	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2						glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ctgatagacaggtgcttggcc	0.537																																																	0													22.0	19.0	20.0					1																	204110634		2166	4201	6367	SO:0001627	intron_variant	0			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.642-49C>-	1.37:g.204110634delG			B7Z7K1|Q5SXX5|Q68CK3|Q96G05	RNA	DEL	-	NULL	ENST00000367202.4	37	NULL	CCDS1442.2	1																																																																																			ETNK2	-	-	ENSG00000143845		0.537	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK2	HGNC	protein_coding	OTTHUMT00000087893.1		0.00	11	0	G	NM_018208		204110634	-1	tier1		no_errors	ENST00000477125	ensembl	human	known	74_37	rna	26.67	11	4	DEL	0.000	-
EWSR1	2130	genome.wustl.edu	37	22	29693886	29693886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:29693886delG	ENST00000397938.2	+	13	1683	c.1364delG	c.(1363-1365)cggfs	p.R455fs	EWSR1_ENST00000406548.1_Frame_Shift_Del_p.R454fs|EWSR1_ENST00000332035.6_Frame_Shift_Del_p.R399fs|EWSR1_ENST00000414183.2_Frame_Shift_Del_p.R460fs|EWSR1_ENST00000331029.7_Frame_Shift_Del_p.R417fs|EWSR1_ENST00000332050.6_Frame_Shift_Del_p.R382fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	455	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AACAGTATGCGGGGTGGTCTG	0.488			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																			Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	0													79.0	81.0	80.0					22																	29693886		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1364delG	22.37:g.29693886delG	ENSP00000381031:p.Arg455fs		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Frame_Shift_Del	DEL	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.G461fs	ENST00000397938.2	37	c.1379	CCDS13851.1	22																																																																																			EWSR1	-	NULL	ENSG00000182944		0.488	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1		0.00	26	0	G	NM_005243		29693886	+1	tier1		no_errors	ENST00000414183	ensembl	human	known	74_37	frame_shift_del	18.00	41	9	DEL	0.999	-
EXOC6B	23233	genome.wustl.edu	37	2	72406346	72406346	+	3'UTR	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:72406346delA	ENST00000272427.6	-	0	2684				EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B						protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						AGGGGTTAATAAAAAAATACA	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.*118T>-	2.37:g.72406346delA			B8ZZY3	RNA	DEL	-	NULL	ENST00000272427.6	37	NULL	CCDS46333.1	2																																																																																			EXOC6B	-	-	ENSG00000144036		0.463	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1		0.00	9	0	A	XM_039570		72406346	-1	tier1		no_errors	ENST00000471335	ensembl	human	known	74_37	rna	31.58	13	6	DEL	1.000	-
EXOSC8	11340	genome.wustl.edu	37	13	37580070	37580070	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:37580070T>A	ENST00000389704.3	+	6	517	c.252T>A	c.(250-252)gaT>gaA	p.D84E	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	84					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CTAATGTGGATCTACCACCCC	0.438																																																	0													115.0	107.0	110.0					13																	37580070		2203	4300	6503	SO:0001583	missense	0			AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"""CBP-interacting protein 3"", ""Opa interacting protein 2"""	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.252T>A	13.37:g.37580070T>A	ENSP00000374354:p.Asp84Glu		O43480|Q5TBA5	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.D84E	ENST00000389704.3	37	c.252	CCDS31958.1	13	.	.	.	.	.	.	.	.	.	.	T	12.61	1.988609	0.35131	.	.	ENSG00000120699	ENST00000389704	T	0.60920	0.15	5.93	3.39	0.38822	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.081669	0.85682	D	0.000000	T	0.25044	0.0608	N	0.04508	-0.205	0.52099	D	0.999946	B	0.20261	0.043	B	0.21917	0.037	T	0.19582	-1.0301	10	0.02654	T	1	-13.8773	3.5142	0.07719	0.1089:0.1266:0.1131:0.6514	.	84	Q96B26	EXOS8_HUMAN	E	84	ENSP00000374354:D84E	ENSP00000374354:D84E	D	+	3	2	EXOSC8	36478070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.658000	0.24979	0.453000	0.26858	0.533000	0.62120	GAT	EXOSC8	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000120699		0.438	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC8	HGNC	protein_coding	OTTHUMT00000044535.2	-	0.00	47	0	T	NM_181503		37580070	+1	tier1	-	no_errors	ENST00000389704	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	A
EYA1	2138	genome.wustl.edu	37	8	72128937	72128938	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:72128937_72128938insT	ENST00000340726.3	-	14	1988_1989	c.1349_1350insA	c.(1348-1350)aatfs	p.N450fs	EYA1_ENST00000303824.7_Frame_Shift_Ins_p.N444fs|EYA1_ENST00000388743.2_Frame_Shift_Ins_p.N449fs|EYA1_ENST00000419131.1_Frame_Shift_Ins_p.N415fs|EYA1_ENST00000388741.2_Frame_Shift_Ins_p.N416fs|EYA1_ENST00000388740.3_Frame_Shift_Ins_p.N417fs|EYA1_ENST00000388742.4_Frame_Shift_Ins_p.N450fs	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	450					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTCCAACATTATTTTTGTAGGT	0.441																																																	0			GRCh37	CX972739	EYA1	X																																				SO:0001589	frameshift_variant	0			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1350dupA	8.37:g.72128942_72128942dupT	ENSP00000342626:p.Asn450fs		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Frame_Shift_Ins	INS	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.N450fs	ENST00000340726.3	37	c.1350_1349	CCDS34906.1	8																																																																																			EYA1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000104313		0.441	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2		0.00	102	0	0	NM_000503, NM_172060		72128938	-1			no_errors	ENST00000340726	ensembl	human	known	74_37	frame_shift_ins	8.64	201	19	INS	0.960:1.000	T
FAAH2	158584	genome.wustl.edu	37	X	57318978	57318978	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:57318978C>T	ENST00000374900.4	+	2	360	c.240C>T	c.(238-240)gaC>gaT	p.D80D		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	80						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.D80D(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GAATCAAGGACGTGAACCCAA	0.373										HNSCC(52;0.14)																																							1	Substitution - coding silent(1)	lung(1)											177.0	158.0	164.0					X																	57318978		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.240C>T	X.37:g.57318978C>T			Q86VT2|Q96N98	Silent	SNP	pfam_Amidase,superfamily_Amidase_dom	p.D80	ENST00000374900.4	37	c.240	CCDS14375.1	X																																																																																			FAAH2	-	pfam_Amidase,superfamily_Amidase_dom	ENSG00000165591		0.373	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH2	HGNC	protein_coding	OTTHUMT00000056919.1	-	0.00	14	0	C	NM_174912		57318978	+1	tier1	-	no_errors	ENST00000374900	ensembl	human	known	74_37	silent	77.27	5	17	SNP	0.972	T
FABP5P3	220832	genome.wustl.edu	37	7	152139920	152139920	+	RNA	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:152139920A>G	ENST00000477993.1	+	0	675					NR_002935.1		A8MUU1	FB5L3_HUMAN	fatty acid binding protein 5 pseudogene 3								lipid binding (GO:0008289)|transporter activity (GO:0005215)										GTTCAGCATCAGGAGTGGGAT	0.448																																																	0																																												0					7q36.1	2010-10-12	2010-10-12	2010-10-12	ENSG00000241735	ENSG00000241735			22573	pseudogene	pseudogene			"""fatty acid binding protein 5-like 3"", ""fatty acid binding protein 5-like 3 (pseudogene)"""	FABP5L3			Standard	NR_002935		Approved	TCAG_1781704	uc003wlb.3	A8MUU1	OTTHUMG00000157257		7.37:g.152139920A>G				RNA	SNP	-	NULL	ENST00000477993.1	37	NULL		7																																																																																			FABP5P3	-	-	ENSG00000241735		0.448	FABP5P3-001	KNOWN	basic	processed_transcript	FABP5P3	HGNC	pseudogene	OTTHUMT00000348208.1	-	0.00	23	0	A	NR_002935		152139920	+1	tier1	-	no_errors	ENST00000477993	ensembl	human	known	74_37	rna	45.65	25	21	SNP	0.995	G
FAF1	11124	genome.wustl.edu	37	1	51210386	51210386	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:51210386delT	ENST00000396153.2	-	5	880	c.429delA	c.(427-429)aaafs	p.K143fs	FAF1_ENST00000371778.4_Frame_Shift_Del_p.K143fs	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	143					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCTTCCAGCCTTTTAACAGCA	0.299																																																	2	Whole gene deletion(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)											139.0	135.0	136.0					1																	51210386		2203	4299	6502	SO:0001589	frameshift_variant	0			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.429delA	1.37:g.51210386delT	ENSP00000379457:p.Lys143fs		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Frame_Shift_Del	DEL	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.G144fs	ENST00000396153.2	37	c.429	CCDS554.1	1																																																																																			FAF1	-	NULL	ENSG00000185104		0.299	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1		0.00	57	0	T	NM_007051		51210386	-1	tier1		no_errors	ENST00000371778	ensembl	human	known	74_37	frame_shift_del	38.46	32	20	DEL	1.000	-
FAM118A	55007	genome.wustl.edu	37	22	45736690	45736691	+	3'UTR	DEL	TT	TT	-	rs35399563		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:45736690_45736691delTT	ENST00000216214.3	+	0	2312_2313					NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAATAGACACtttttttttttg	0.455																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.*405TT>-	22.37:g.45736698_45736699delTT			B3KWG4|B4DY02|Q5TII5|Q96CY3	RNA	DEL	-	NULL	ENST00000216214.3	37	NULL	CCDS14065.1	22																																																																																			FAM118A	-	-	ENSG00000100376		0.455	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM118A	HGNC	protein_coding	OTTHUMT00000322260.1		0.00	12	0	TT	NM_017911		45736691	+1	tier1		no_errors	ENST00000479180	ensembl	human	known	74_37	rna	35.00	13	7	DEL	0.010:0.014	-
FAM153B	202134	genome.wustl.edu	37	5	175516516	175516516	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:175516516G>A	ENST00000253490.4	+	3	283	c.226G>A	c.(226-228)Gtt>Att	p.V76I	FAM153B_ENST00000512862.1_5'UTR|FAM153B_ENST00000515817.1_5'UTR|FAM153B_ENST00000510151.1_5'UTR			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	76										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TGTCCTGGGCGTTCATATGGT	0.378																																																	0													2.0	2.0	2.0					5																	175516516		812	2147	2959	SO:0001583	missense	0			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.226G>A	5.37:g.175516516G>A	ENSP00000253490:p.Val76Ile		A8MTI1	Missense_Mutation	SNP	prints_FAM153	p.V76I	ENST00000253490.4	37	c.226		5	.	.	.	.	.	.	.	.	.	.	G	6.448	0.450742	0.12223	.	.	ENSG00000182230	ENST00000253490	.	.	.	0.778	-0.876	0.10624	.	.	.	.	.	T	0.17450	0.0419	N	0.19112	0.55	0.29292	N	0.869313	P	0.35226	0.491	B	0.29440	0.102	T	0.16808	-1.0390	8	0.87932	D	0	.	2.9203	0.05766	0.6283:0.0:0.3717:0.0	.	76	P0C7A2	F153B_HUMAN	I	76	.	ENSP00000253490:V76I	V	+	1	0	FAM153B	175449122	0.346000	0.24844	0.000000	0.03702	0.000000	0.00434	-0.341000	0.07811	-0.239000	0.09710	-0.474000	0.04947	GTT	FAM153B	-	NULL	ENSG00000182230		0.378	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding		-	0.00	13	0	G	NM_001079529		175516516	+1	tier1	-	no_errors	ENST00000253490	ensembl	human	known	74_37	missense	64.71	6	11	SNP	0.000	A
FAM166B	730112	genome.wustl.edu	37	9	35562401	35562401	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:35562401G>T	ENST00000399742.2	-	5	785	c.715C>A	c.(715-717)Cct>Act	p.P239T	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	239										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						CCATAGTTAGGTAAAAGACCC	0.562																																																	0													26.0	27.0	27.0					9																	35562401		1879	4108	5987	SO:0001583	missense	0			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.715C>A	9.37:g.35562401G>T	ENSP00000382646:p.Pro239Thr		A1L3B2|B7ZBJ0	Missense_Mutation	SNP	pfam_UPF0573/UPF0605	p.T216N	ENST00000399742.2	37	c.647	CCDS56572.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.782|9.782	1.175654|1.175654	0.21704|0.21704	.|.	.|.	ENSG00000215187|ENSG00000215187	ENST00000399742|ENST00000537504	D|.	0.92249|.	-3.0|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	2586.160000|.	0.00567|.	U|.	0.000298|.	T|.	0.71134|.	0.3304|.	.|.	.|.	.|.	0.47441|0.47441	D|D	0.99942|0.99942	D;B|.	0.89917|.	1.0;0.275|.	D;B|.	0.87578|.	0.998;0.206|.	T|.	0.69105|.	-0.5233|.	9|.	0.52906|.	T|.	0.07|.	-1.2467|-1.2467	15.0012|15.0012	0.71473|0.71473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	227;239|.	B7ZW26;A8MTA8|.	.;F166B_HUMAN|.	T|X	239|223	ENSP00000382646:P239T|.	ENSP00000382646:P239T|.	P|Y	-|-	1|3	0|2	FAM166B|FAM166B	35552401|35552401	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.386000|0.386000	0.30323|0.30323	5.026000|5.026000	0.64103|0.64103	2.675000|2.675000	0.91044|0.91044	0.655000|0.655000	0.94253|0.94253	CCT|TAC	FAM166B	-	NULL	ENSG00000215187		0.562	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM166B	HGNC	protein_coding	OTTHUMT00000336563.1		0.00	61	0	G	NM_001099951		35562401	-1			no_errors	ENST00000447837	ensembl	human	known	74_37	missense	8.39	142	13	SNP	0.976	T
FAM178B	51252	genome.wustl.edu	37	2	97674870	97674870	+	Missense_Mutation	SNP	T	T	C	rs2698405		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:97674870T>C	ENST00000417561.3	-	2	135	c.136A>G	c.(136-138)Aaa>Gaa	p.K46E				Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	46										large_intestine(1)|ovary(1)	2						TAAGAAGCTTTCCTGAATGAC	0.373																																																	0																																										SO:0001583	missense	0			AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.136A>G	2.37:g.97674870T>C	ENSP00000413245:p.Lys46Glu		A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Missense_Mutation	SNP	NULL	p.K46E	ENST00000417561.3	37	c.136		2	.	.	.	.	.	.	.	.	.	.	t	10.55	1.383007	0.25031	.	.	ENSG00000168754	ENST00000417561	T	0.52295	0.67	0.791	-1.29	0.09288	.	.	.	.	.	T	0.39489	0.1080	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42258	-0.9462	6	0.87932	D	0	.	3.3862	0.07272	0.0:0.4399:0.0:0.5601	rs2698405	.	.	.	E	46	ENSP00000413245:K46E	ENSP00000413245:K46E	K	-	1	0	FAM178B	97038597	0.003000	0.15002	0.004000	0.12327	0.209000	0.24338	-0.201000	0.09464	-0.390000	0.07774	0.055000	0.15244	AAA	FAM178B	-	NULL	ENSG00000168754		0.373	FAM178B-202	KNOWN	basic	protein_coding	FAM178B	HGNC	protein_coding		-	0.00	174	0	T	NM_016490		97674870	-1	tier1	rs2698405	no_errors	ENST00000417561	ensembl	human	known	74_37	missense	13.98	320	52	SNP	0.003	C
FAM178B	51252	genome.wustl.edu	37	2	97674903	97674903	+	Missense_Mutation	SNP	C	C	G	rs2551258		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:97674903C>G	ENST00000417561.3	-	2	102	c.103G>C	c.(103-105)Gac>Cac	p.D35H				Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	35										large_intestine(1)|ovary(1)	2						GAAACCATGTCGATCCTCCAT	0.383																																																	0																																										SO:0001583	missense	0			AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.103G>C	2.37:g.97674903C>G	ENSP00000413245:p.Asp35His		A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Missense_Mutation	SNP	NULL	p.D35H	ENST00000417561.3	37	c.103		2	.	.	.	.	.	.	.	.	.	.	c	0.024	-1.388415	0.01185	.	.	ENSG00000168754	ENST00000417561	T	0.54866	0.55	0.604	-0.455	0.12193	.	.	.	.	.	T	0.47469	0.1447	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.47649	-0.9101	5	0.87932	D	0	.	.	.	.	rs2551258	.	.	.	H	35	ENSP00000413245:D35H	ENSP00000413245:D35H	D	-	1	0	FAM178B	97038630	0.000000	0.05858	0.003000	0.11579	0.060000	0.15804	-1.994000	0.01474	-0.155000	0.11098	0.368000	0.22195	GAC	FAM178B	-	NULL	ENSG00000168754		0.383	FAM178B-202	KNOWN	basic	protein_coding	FAM178B	HGNC	protein_coding		-	0.00	164	0	C	NM_016490		97674903	-1	tier1	rs2551258	no_errors	ENST00000417561	ensembl	human	known	74_37	missense	19.23	294	70	SNP	0.003	G
FAM198A	729085	genome.wustl.edu	37	3	43074481	43074481	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:43074481T>C	ENST00000430121.2	+	2	821	c.726T>C	c.(724-726)tgT>tgC	p.C242C	KRBOX1_ENST00000443313.1_Intron	NM_001129908.2	NP_001123380.2	Q9UFP1	F198A_HUMAN	family with sequence similarity 198, member A	242						extracellular region (GO:0005576)				endometrium(1)	1						CAGTATGGTGTGATGCTGAGA	0.602																																																	0													25.0	29.0	28.0					3																	43074481		692	1591	2283	SO:0001819	synonymous_variant	0			AL117530	CCDS46808.1	3p22.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000144649	ENSG00000144649			24485	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 41"""	C3orf41			Standard	NM_001129908		Approved	DKFZP434B172	uc003cmp.4	Q9UFP1	OTTHUMG00000156449	ENST00000430121.2:c.726T>C	3.37:g.43074481T>C			B3KR48	Silent	SNP	NULL	p.C242	ENST00000430121.2	37	c.726	CCDS46808.1	3																																																																																			FAM198A	-	NULL	ENSG00000144649		0.602	FAM198A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM198A	HGNC	protein_coding	OTTHUMT00000344240.3	-	0.00	22	0	T	NM_001129908		43074481	+1	tier1	-	no_errors	ENST00000273146	ensembl	human	known	74_37	silent	62.79	16	27	SNP	0.085	C
FAM206A	54942	genome.wustl.edu	37	9	111698645	111698645	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:111698645T>C	ENST00000322940.6	+	3	495	c.189T>C	c.(187-189)atT>atC	p.I63I	IKBKAP_ENST00000537196.1_5'Flank|FAM206A_ENST00000374624.3_Silent_p.I63I|IKBKAP_ENST00000374647.5_5'Flank	NM_017832.3	NP_060302.1	Q9NX38	F206A_HUMAN	family with sequence similarity 206, member A	63						nucleus (GO:0005634)											GAAAAACAATTAAAAGCATTT	0.373																																																	0													120.0	118.0	119.0					9																	111698645		2203	4300	6503	SO:0001819	synonymous_variant	0			BC015795	CCDS6774.1	9q31	2011-08-15	2011-08-15	2011-08-15	ENSG00000119328	ENSG00000119328			1364	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 6"""	C9orf6			Standard	NM_017832		Approved	CG-8, FLJ20457	uc004bdn.3	Q9NX38	OTTHUMG00000020467	ENST00000322940.6:c.189T>C	9.37:g.111698645T>C			Q5JTR0|Q5JTR1	Silent	SNP	pfam_GCV_H,superfamily_Single_hybrid_motif	p.I63	ENST00000322940.6	37	c.189	CCDS6774.1	9																																																																																			FAM206A	-	superfamily_Single_hybrid_motif	ENSG00000119328		0.373	FAM206A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM206A	HGNC	protein_coding	OTTHUMT00000053582.1	-	0.00	28	0	T	NM_017832		111698645	+1	tier1	-	no_errors	ENST00000322940	ensembl	human	known	74_37	silent	24.32	28	9	SNP	1.000	C
FAM20B	9917	genome.wustl.edu	37	1	179041052	179041052	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:179041052C>T	ENST00000263733.4	+	8	1339	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	335						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						TCCCAGCATTCGGGTGTCCAC	0.433																																																	0													105.0	111.0	109.0					1																	179041052		2203	4300	6503	SO:0001583	missense	0			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.1003C>T	1.37:g.179041052C>T	ENSP00000263733:p.Arg335Trp		Q5W0C3|Q5W0C4	Missense_Mutation	SNP	pfam_DUF1193	p.R335W	ENST00000263733.4	37	c.1003	CCDS1328.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901689	0.92035	.	.	ENSG00000116199	ENST00000263733	D	0.82526	-1.62	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.92011	0.7469	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93142	0.6542	10	0.87932	D	0	-21.3996	17.2548	0.87052	0.0:1.0:0.0:0.0	.	335	O75063	XYLK_HUMAN	W	335	ENSP00000263733:R335W	ENSP00000263733:R335W	R	+	1	2	FAM20B	177307675	1.000000	0.71417	0.999000	0.59377	0.891000	0.51852	4.051000	0.57412	2.484000	0.83849	0.655000	0.94253	CGG	FAM20B	-	pfam_DUF1193	ENSG00000116199		0.433	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20B	HGNC	protein_coding	OTTHUMT00000084922.1	-	0.00	29	0	C	NM_014864		179041052	+1	tier1	-	no_errors	ENST00000263733	ensembl	human	known	74_37	missense	37.84	22	14	SNP	1.000	T
GGT1	2678	genome.wustl.edu	37	22	24984229	24984229	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:24984229C>T	ENST00000248923.4	+	1	59				FAM211B_ENST00000495297.1_5'Flank|FAM211B_ENST00000318753.8_Silent_p.S125S	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCTGCTGCTTCGAGTGAGGGG	0.597																																																	0													107.0	119.0	115.0					22																	24984229		2120	4234	6354	SO:0001627	intron_variant	0			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+4453C>T	22.37:g.24984229C>T			Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	NULL	p.S125	ENST00000248923.4	37	c.375	CCDS42992.1	22																																																																																			FAM211B	-	NULL	ENSG00000178026		0.597	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM211B	HGNC	protein_coding	OTTHUMT00000319110.1	-	0.00	62	0	C	NM_013430		24984229	-1	tier1	-	no_errors	ENST00000318753	ensembl	human	known	74_37	silent	43.55	70	54	SNP	1.000	T
FAM218A	152756	genome.wustl.edu	37	4	165878447	165878447	+	Silent	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:165878447C>A	ENST00000513876.2	+	1	348	c.273C>A	c.(271-273)cgC>cgA	p.R91R	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	91																	CTGTCAGCCGCTCATGGTGCC	0.567																																																	0													49.0	43.0	45.0					4																	165878447		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 39"""	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.273C>A	4.37:g.165878447C>A				Silent	SNP	NULL	p.R91	ENST00000513876.2	37	c.273	CCDS3807.1	4																																																																																			FAM218A	-	NULL	ENSG00000250486		0.567	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM218A	HGNC	protein_coding	OTTHUMT00000364308.1	-	0.00	25	0	C	NM_153027		165878447	+1	tier1	-	no_errors	ENST00000513876	ensembl	human	known	74_37	silent	51.43	17	18	SNP	0.000	A
FAM26F	441168	genome.wustl.edu	37	6	116783245	116783245	+	Silent	SNP	C	C	T	rs541870005		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:116783245C>T	ENST00000368605.1	+	2	248	c.153C>T	c.(151-153)taC>taT	p.Y51Y	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Intron	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	51					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		ACCTGCCCTACGGCCTGGTCT	0.706																																																	0													13.0	12.0	12.0					6																	116783245		2121	4132	6253	SO:0001819	synonymous_variant	0			AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 187"""	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.153C>T	6.37:g.116783245C>T			B9EJB0|Q5R3K4	Silent	SNP	NULL	p.Y51	ENST00000368605.1	37	c.153	CCDS34519.1	6																																																																																			FAM26F	-	NULL	ENSG00000188820		0.706	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM26F	HGNC	protein_coding	OTTHUMT00000041946.1	-	0.00	20	0	C	NM_001010919		116783245	+1	tier1	-	no_errors	ENST00000368605	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.807	T
FAM71E2	284418	genome.wustl.edu	37	19	55874319	55874319	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:55874319C>T	ENST00000424985.3	-	1	309	c.116G>A	c.(115-117)cGt>cAt	p.R39H		NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	39										NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						GGGCAGCGGACGGAGGGGCAG	0.647																																																	0													37.0	40.0	39.0					19																	55874319		692	1591	2283	SO:0001583	missense	0			AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.116G>A	19.37:g.55874319C>T	ENSP00000398617:p.Arg39His		Q8ND99	Missense_Mutation	SNP	pfam_DUF3699	p.R39H	ENST00000424985.3	37	c.116		19	.	.	.	.	.	.	.	.	.	.	N	14.66	2.602788	0.46423	.	.	ENSG00000180043	ENST00000424985	T	0.13901	2.55	4.25	3.21	0.36854	.	0.629301	0.13007	N	0.421210	T	0.12944	0.0314	M	0.61703	1.905	0.25005	N	0.991447	P	0.43392	0.805	B	0.33295	0.161	T	0.17137	-1.0379	10	0.66056	D	0.02	-13.8887	8.3636	0.32374	0.0:0.8905:0.0:0.1095	.	39	Q8N5Q1	F71E2_HUMAN	H	39	ENSP00000398617:R39H	ENSP00000398617:R39H	R	-	2	0	FAM71E2	60566131	0.213000	0.23551	0.999000	0.59377	0.003000	0.03518	0.210000	0.17455	1.162000	0.42619	-0.161000	0.13427	CGT	FAM71E2	-	NULL	ENSG00000180043		0.647	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	FAM71E2	HGNC	protein_coding	OTTHUMT00000409063.4	-	0.00	48	0	C	NM_001145402		55874319	-1	tier1	-	no_errors	ENST00000424985	ensembl	human	novel	74_37	missense	41.67	28	20	SNP	0.996	T
FAM86B3P	286042	genome.wustl.edu	37	8	8095879	8095879	+	RNA	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:8095879C>T	ENST00000310542.3	+	0	0				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		TGCCACATGGCCCCAGGCCCA	0.612																																																	0																																												0					8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8095879C>T				RNA	SNP	-	NULL	ENST00000310542.3	37	NULL		8																																																																																			FAM86B3P	-	-	ENSG00000173295		0.612	FAM86B3P-005	KNOWN	basic	processed_transcript	FAM86B3P	HGNC	pseudogene	OTTHUMT00000448496.1		0.00	70	0	C			8095879	+1			no_errors	ENST00000590591	ensembl	human	known	74_37	rna	5.15	92	5	SNP	0.000	T
FAM84B	157638	genome.wustl.edu	37	8	127569172	127569172	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:127569172G>T	ENST00000304916.3	-	2	918	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-89K10.1_ENST00000519880.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	155						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GCGTCAGTCAGGAAGCTGTTA	0.642																																																	0													22.0	21.0	22.0					8																	127569172		2198	4293	6491	SO:0001583	missense	0			AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.463C>A	8.37:g.127569172G>T	ENSP00000302578:p.Leu155Met			Missense_Mutation	SNP	pfam_LRAT-like_dom	p.L155M	ENST00000304916.3	37	c.463	CCDS6358.1	8	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936901	0.34189	.	.	ENSG00000168672	ENST00000304916	T	0.08008	3.14	4.59	3.7	0.42460	NC (1);	0.077370	0.53938	D	0.000055	T	0.12305	0.0299	L	0.53249	1.67	0.41652	D	0.989131	P	0.48230	0.907	P	0.48840	0.592	T	0.00923	-1.1513	10	0.62326	D	0.03	-19.5051	7.3965	0.26939	0.088:0.0:0.7497:0.1623	.	155	Q96KN1	FA84B_HUMAN	M	155	ENSP00000302578:L155M	ENSP00000302578:L155M	L	-	1	2	FAM84B	127638354	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	3.973000	0.56845	2.072000	0.62099	0.460000	0.39030	CTG	FAM84B	-	pfam_LRAT-like_dom	ENSG00000168672		0.642	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84B	HGNC	protein_coding	OTTHUMT00000381487.1		0.00	15	0	G	NM_174911		127569172	-1			no_errors	ENST00000304916	ensembl	human	known	74_37	missense	12.82	102	15	SNP	1.000	T
ALG1L	200810	genome.wustl.edu	37	3	125647977	125647977	+	IGR	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:125647977G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						GAGACCAAACGCAGGATAAGG	0.498																																																	0																																										SO:0001628	intergenic_variant	0			BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647977G>A			D3DNA5	RNA	SNP	-	NULL	ENST00000340333.3	37	NULL	CCDS33840.1	3																																																																																			FAM86JP	-	-	ENSG00000171084		0.498	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86JP	HGNC	protein_coding	OTTHUMT00000356347.1	-	0.00	20	0	G	NM_001015050		125647977	+1	tier1	-	no_errors	ENST00000467239	ensembl	human	known	74_37	rna	48.00	13	12	SNP	0.000	A
FAP	2191	genome.wustl.edu	37	2	163055317	163055317	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:163055317T>C	ENST00000188790.4	-	16	1559	c.1352A>G	c.(1351-1353)tAc>tGc	p.Y451C	FAP_ENST00000443424.1_Missense_Mutation_p.Y426C	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						ACTTGCTGTGTAATATTGGCA	0.438																																																	0													238.0	196.0	211.0					2																	163055317		2203	4300	6503	SO:0001583	missense	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.1352A>G	2.37:g.163055317T>C	ENSP00000188790:p.Tyr451Cys			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.Y451C	ENST00000188790.4	37	c.1352	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.125393	0.77436	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.37235	1.21;1.21	6.05	6.05	0.98169	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.056076	0.64402	D	0.000001	T	0.64702	0.2622	M	0.84082	2.675	0.58432	D	0.999994	D;D	0.89917	0.999;1.0	D;D	0.83275	0.984;0.996	T	0.68288	-0.5448	10	0.56958	D	0.05	-5.6581	16.5932	0.84781	0.0:0.0:0.0:1.0	.	426;451	B4DLR2;Q12884	.;SEPR_HUMAN	C	451;426	ENSP00000188790:Y451C;ENSP00000411391:Y426C	ENSP00000188790:Y451C	Y	-	2	0	FAP	162763563	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.908000	0.69916	2.320000	0.78422	0.528000	0.53228	TAC	FAP	-	pfam_Peptidase_S9B	ENSG00000078098		0.438	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	-	0.00	61	0	T			163055317	-1	tier1	-	no_errors	ENST00000188790	ensembl	human	known	74_37	missense	29.87	54	23	SNP	1.000	C
FASN	2194	genome.wustl.edu	37	17	80046083	80046083	+	Silent	SNP	C	C	T	rs373471307	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:80046083C>T	ENST00000306749.2	-	17	2912	c.2694G>A	c.(2692-2694)acG>acA	p.T898T		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	898					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CGCGGGCCAGCGTCTTCCACA	0.652													.|||	2	0.000399361	0.0015	0.0	5008	,	,		15202	0.0		0.0	False		,,,				2504	0.0				Colon(59;314 1043 11189 28578 32273)												0								C		1,4395	2.1+/-5.4	0,1,2197	44.0	55.0	51.0		2694	-8.2	0.0	17		51	0,8596		0,0,4298	no	coding-synonymous	FASN	NM_004104.4		0,1,6495	TT,TC,CC		0.0,0.0227,0.0077		898/2512	80046083	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2694G>A	17.37:g.80046083C>T			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.T898	ENST00000306749.2	37	c.2694	CCDS11801.1	17																																																																																			FASN	-	smart_PKS_dehydratase	ENSG00000169710		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0.00	39	0	C	NM_004104		80046083	-1	tier1	-	no_errors	ENST00000306749	ensembl	human	known	74_37	silent	22.22	56	16	SNP	0.018	T
FAT2	2196	genome.wustl.edu	37	5	150922881	150922882	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:150922881_150922882delGA	ENST00000261800.5	-	9	7818_7819	c.7806_7807delTC	c.(7804-7809)tctccgfs	p.P2603fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2603	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATAACCGGAGAGTCTTTAC	0.45																																																	0																																										SO:0001589	frameshift_variant	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7806_7807delTC	5.37:g.150922883_150922884delGA	ENSP00000261800:p.Pro2603fs		O75091|Q9NSR7	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P2603fs	ENST00000261800.5	37	c.7807_7806	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000086570		0.450	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1		0.00	111	0	GA	NM_001447		150922882	-1	tier1		no_errors	ENST00000261800	ensembl	human	known	74_37	frame_shift_del	59.66	48	71	DEL	1.000:1.000	-
FBLN2	2199	genome.wustl.edu	37	3	13679189	13679189	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:13679189G>A	ENST00000295760.7	+	17	3394	c.3325G>A	c.(3325-3327)Gcg>Acg	p.A1109T	FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156T|FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135T|FBLN2_ENST00000404922.3_Missense_Mutation_p.A1156T	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1109	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.A1156T(2)|p.A575T(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATTGGCCCCGCGCCAGCCTT	0.622																																																	4	Substitution - Missense(4)	large_intestine(2)|prostate(2)											43.0	48.0	46.0					3																	13679189		2154	4245	6399	SO:0001583	missense	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3325G>A	3.37:g.13679189G>A	ENSP00000295760:p.Ala1109Thr		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.A1156T	ENST00000295760.7	37	c.3466	CCDS46762.1	3	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946543	0.34377	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.79554	-1.28;-1.24;-1.19;-1.24	4.6	2.63	0.31362	.	0.194173	0.46442	D	0.000286	T	0.44871	0.1314	N	0.01729	-0.75	0.35567	D	0.805155	B;P;P	0.48998	0.313;0.918;0.72	B;B;B	0.34138	0.058;0.176;0.131	T	0.54221	-0.8326	10	0.14656	T	0.56	.	5.867	0.18781	0.1026:0.0:0.5213:0.376	.	1109;1156;1135	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	T	1135;1156;1109;1156	ENSP00000445705:A1135T;ENSP00000384169:A1156T;ENSP00000295760:A1109T;ENSP00000420042:A1156T	ENSP00000295760:A1109T	A	+	1	0	FBLN2	13654190	0.993000	0.37304	0.747000	0.31113	0.616000	0.37450	3.099000	0.50267	1.157000	0.42530	0.462000	0.41574	GCG	FBLN2	-	NULL	ENSG00000163520		0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	-	0.00	18	0	G	NM_001004019		13679189	+1	tier1	-	no_errors	ENST00000404922	ensembl	human	known	74_37	missense	72.73	9	24	SNP	0.984	A
FBRS	64319	genome.wustl.edu	37	16	30680549	30680549	+	Silent	SNP	C	C	T	rs563758362	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:30680549C>T	ENST00000287468.5	+	12	1229	c.966C>T	c.(964-966)gcC>gcT	p.A322A	FBRS_ENST00000395073.2_Silent_p.A234A|FBRS_ENST00000356166.6_Silent_p.A842A|FBRS_ENST00000568722.1_Silent_p.A234A	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	322	Ala-rich.									ovary(1)	1			Colorectal(24;0.103)			ctgccgccgccgctgccgccg	0.716													C|||	2	0.000399361	0.0	0.0	5008	,	,		7726	0.0		0.002	False		,,,				2504	0.0																0																																										SO:0001819	synonymous_variant	0			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.966C>T	16.37:g.30680549C>T			B4DP86|Q96CI9|Q9H9X4	Silent	SNP	prints_AUTS2	p.A842	ENST00000287468.5	37	c.2526		16																																																																																			FBRS	-	NULL	ENSG00000156860		0.716	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	HGNC	protein_coding		-	0.00	8	0	C	NM_022452		30680549	+1	tier1	-	no_errors	ENST00000356166	ensembl	human	known	74_37	silent	57.14	6	8	SNP	0.000	T
FBXL7	23194	genome.wustl.edu	37	5	15928463	15928463	+	Missense_Mutation	SNP	C	C	T	rs369795247		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:15928463C>T	ENST00000504595.1	+	3	1073	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	FBXL7_ENST00000510662.1_Missense_Mutation_p.R151W|FBXL7_ENST00000329673.7_Missense_Mutation_p.R186W	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	198					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGGCTGCAGGCGGCTCACAGA	0.607																																																	0								C	TRP/ARG	0,4204		0,0,2102	34.0	40.0	38.0		592	4.5	1.0	5		38	2,8428		0,2,4213	no	missense	FBXL7	NM_012304.3	101	0,2,6315	TT,TC,CC		0.0237,0.0,0.0158	probably-damaging	198/492	15928463	2,12632	2102	4215	6317	SO:0001583	missense	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.592C>T	5.37:g.15928463C>T	ENSP00000423630:p.Arg198Trp		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.R198W	ENST00000504595.1	37	c.592	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669576	0.67814	0.0	2.37E-4	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.29655	1.56;1.56;1.56	5.36	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.88181	2.935	0.58432	D	0.999996	D	0.89917	1.0	D	0.67548	0.952	T	0.70044	-0.4980	10	0.72032	D	0.01	.	15.1343	0.72552	0.1425:0.8575:0.0:0.0	.	198	Q9UJT9	FBXL7_HUMAN	W	198;151;186	ENSP00000423630:R198W;ENSP00000425184:R151W;ENSP00000329632:R186W	ENSP00000329632:R186W	R	+	1	2	FBXL7	15981463	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.463000	0.35277	1.203000	0.43233	0.561000	0.74099	CGG	FBXL7	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000183580		0.607	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1	-	0.00	50	0	C	NM_012304		15928463	+1	tier1	-	no_errors	ENST00000504595	ensembl	human	known	74_37	missense	12.58	132	19	SNP	1.000	T
FBXO10	26267	genome.wustl.edu	37	9	37537267	37537267	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:37537267G>A	ENST00000432825.2	-	3	1307	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	FBXO10_ENST00000541829.1_Intron|FBXO10_ENST00000543968.1_5'Flank|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	420					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CAGTGCCATGGCCTCCTTATC	0.622																																																	0													31.0	34.0	33.0					9																	37537267		2014	4185	6199	SO:0001583	missense	0			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.1259C>T	9.37:g.37537267G>A	ENSP00000403802:p.Ala420Val		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2	p.A420V	ENST00000432825.2	37	c.1259	CCDS47966.1	9	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777458	0.70107	.	.	ENSG00000147912	ENST00000432825	T	0.52295	0.67	5.6	5.6	0.85130	Carbohydrate-binding/sugar hydrolysis domain (1);	0.114215	0.64402	D	0.000015	T	0.46171	0.1379	L	0.44542	1.39	0.80722	D	1	P	0.41420	0.749	P	0.45753	0.492	T	0.34104	-0.9842	10	0.37606	T	0.19	-30.7821	11.8198	0.52232	0.0813:0.0:0.9187:0.0	.	420	Q9UK96	FBX10_HUMAN	V	420	ENSP00000403802:A420V	ENSP00000276960:A420V	A	-	2	0	FBXO10	37527267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.612000	0.82975	2.631000	0.89168	0.655000	0.94253	GCC	FBXO10	-	smart_Carb-bd_sugar_hydrolysis-dom	ENSG00000147912		0.622	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO10	HGNC	protein_coding	OTTHUMT00000052472.3	-	0.00	8	0	G			37537267	-1	tier1	-	no_errors	ENST00000432825	ensembl	human	known	74_37	missense	40.82	29	20	SNP	1.000	A
FBXO15	201456	genome.wustl.edu	37	18	71749238	71749238	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:71749238delT	ENST00000419743.2	-	9	1266	c.1187delA	c.(1186-1188)aatfs	p.N397fs	FBXO15_ENST00000269500.5_Frame_Shift_Del_p.N321fs|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	397						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTCTCTGTTATTTTTTAAATG	0.328																																																	0													103.0	97.0	99.0					18																	71749238		2203	4300	6503	SO:0001589	frameshift_variant	0			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1187delA	18.37:g.71749238delT	ENSP00000393154:p.Asn397fs		B3KST3	Frame_Shift_Del	DEL	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.N396fs	ENST00000419743.2	37	c.1187	CCDS45884.1	18																																																																																			FBXO15	-	NULL	ENSG00000141665		0.328	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1		0.00	48	0	T	NM_152676		71749238	-1	tier1		no_errors	ENST00000419743	ensembl	human	known	74_37	frame_shift_del	51.02	24	25	DEL	0.379	-
FBXO47	494188	genome.wustl.edu	37	17	37093481	37093483	+	In_Frame_Del	DEL	TAG	TAG	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TAG	TAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:37093481_37093483delTAG	ENST00000378079.2	-	11	1503_1505	c.1304_1306delCTA	c.(1303-1308)gctaac>gac	p.435_436AN>D		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	435										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TTATGGAAGTTAGCCTGAGCATG	0.404																																																	0																																										SO:0001651	inframe_deletion	0				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.1304_1306delCTA	17.37:g.37093481_37093483delTAG	ENSP00000367319:p.Ala435_Asn436delinsAsp		B2RTZ4	In_Frame_Del	DEL	pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom	p.AN435in_frame_delD	ENST00000378079.2	37	c.1306_1304	CCDS32639.1	17																																																																																			FBXO47	-	NULL	ENSG00000204952		0.404	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO47	HGNC	protein_coding	OTTHUMT00000444073.1		0.00	22	0	TAG	NM_001008777		37093483	-1	tier1		no_errors	ENST00000378079	ensembl	human	known	74_37	in_frame_del	30.95	29	13	DEL	1.000:0.998:1.000	-
FBXW4	6468	genome.wustl.edu	37	10	103386257	103386257	+	Intron	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:103386257delT	ENST00000331272.7	-	6	1389				FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4						cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CAGGCAtctcttttttttttg	0.532																																																	0																																										SO:0001627	intron_variant	0			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.771-1690A>-	10.37:g.103386257delT			Q5SVS1|Q96IM6	RNA	DEL	-	NULL	ENST00000331272.7	37	NULL	CCDS31271.1	10																																																																																			FBXW4	-	-	ENSG00000107829		0.532	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW4	HGNC	protein_coding	OTTHUMT00000049979.2		0.00	11	0	T	NM_022039		103386257	-1	tier1		no_errors	ENST00000470093	ensembl	human	known	74_37	rna	50.00	9	9	DEL	0.005	-
FCGBP	8857	genome.wustl.edu	37	19	40392611	40392611	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:40392611C>T	ENST00000221347.6	-	16	7900	c.7893G>A	c.(7891-7893)ccG>ccA	p.P2631P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2631	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTGGGCGGCGGCAGGCAGG	0.647																																																	0													25.0	30.0	29.0					19																	40392611		2185	4296	6481	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7893G>A	19.37:g.40392611C>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.P2631	ENST00000221347.6	37	c.7893	CCDS12546.1	19																																																																																			FCGBP	-	NULL	ENSG00000090920		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0.00	98	0	C	NM_003890		40392611	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	29.17	68	28	SNP	0.004	T
FERMT2	10979	genome.wustl.edu	37	14	53327604	53327604	+	Intron	SNP	T	T	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:53327604T>G	ENST00000395631.2	-	13	1819				FERMT2_ENST00000341590.3_Intron|FERMT2_ENST00000343279.4_Intron|FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000553373.1_Intron|FERMT2_ENST00000399304.3_Intron			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TTTAAGGTACTTGAAATCACC	0.289																																																	0																																										SO:0001627	intron_variant	0			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1603-421A>C	14.37:g.53327604T>G			B5TJY2|Q14840|Q86TY7	RNA	SNP	-	NULL	ENST00000395631.2	37	NULL	CCDS9713.1	14																																																																																			FERMT2	-	-	ENSG00000073712		0.289	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	-	0.00	15	0	T	NM_006832		53327604	-1	tier1	-	no_errors	ENST00000557255	ensembl	human	known	74_37	rna	17.07	34	7	SNP	0.519	G
FETUB	26998	genome.wustl.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcafs	p.S143fs	FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_5'UTR|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418																																																	0													91.0	87.0	89.0					3																	186362544		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.429delA	3.37:g.186362544delA	ENSP00000265029:p.Ser143fs		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Del	DEL	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.K146fs	ENST00000265029.3	37	c.429	CCDS3279.1	3																																																																																			FETUB	-	NULL	ENSG00000090512		0.418	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FETUB	HGNC	protein_coding	OTTHUMT00000344679.1		0.00	17	0	A	NM_014375		186362544	+1			no_errors	ENST00000265029	ensembl	human	known	74_37	frame_shift_del	15.79	48	9	DEL	0.854	0
FEZ1	9638	genome.wustl.edu	37	11	125330507	125330509	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:125330507_125330509delTCT	ENST00000278919.3	-	5	786_788	c.552_554delAGA	c.(550-555)gaagag>gag	p.184_185EE>E	FEZ1_ENST00000527350.1_Intron	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	184	Poly-Glu.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CAGAACCTCCTCTTCTTCCTCAG	0.507																																					Melanoma(180;509 2033 10762 15939 24711)												0																																										SO:0001651	inframe_deletion	0			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.552_554delAGA	11.37:g.125330510_125330512delTCT	ENSP00000278919:p.Glu186del		O00679|O00728|Q6IBI7	In_Frame_Del	DEL	pfam_FEZ	p.E186in_frame_del	ENST00000278919.3	37	c.554_552	CCDS31716.1	11																																																																																			FEZ1	-	pfam_FEZ	ENSG00000149557		0.507	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1		0.00	50	0	TCT	NM_005103		125330509	-1	tier1		no_errors	ENST00000278919	ensembl	human	known	74_37	in_frame_del	53.06	23	26	DEL	1.000:1.000:0.991	-
FGF23	8074	genome.wustl.edu	37	12	4479741	4479741	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:4479741C>T	ENST00000237837.1	-	3	669	c.524G>A	c.(523-525)cGg>cAg	p.R175Q		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	175					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)				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)			GGTGTGCCGCCGTGGTATGGG	0.667																																																	0													34.0	39.0	37.0					12																	4479741		2202	4299	6501	SO:0001583	missense	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.524G>A	12.37:g.4479741C>T	ENSP00000237837:p.Arg175Gln		Q4V758	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R175Q	ENST00000237837.1	37	c.524	CCDS8526.1	12	.	.	.	.	.	.	.	.	.	.	C	11.62	1.694406	0.30052	.	.	ENSG00000118972	ENST00000237837	D	0.88818	-2.43	4.94	4.03	0.46877	.	0.268897	0.30159	N	0.010267	T	0.75332	0.3835	L	0.29908	0.895	0.26351	N	0.977204	P	0.44006	0.824	B	0.33121	0.158	T	0.66139	-0.5998	10	0.18710	T	0.47	-19.1788	5.9479	0.19229	0.0:0.7085:0.0:0.2915	rs28937881	175	Q9GZV9	FGF23_HUMAN	Q	175	ENSP00000237837:R175Q	ENSP00000237837:R175Q	R	-	2	0	FGF23	4350002	1.000000	0.71417	0.924000	0.36721	0.008000	0.06430	1.760000	0.38430	2.562000	0.86427	0.549000	0.68633	CGG	FGF23	-	NULL	ENSG00000118972		0.667	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1	-	0.00	20	0	C			4479741	-1	tier1	rs28937881	no_errors	ENST00000237837	ensembl	human	known	74_37	missense	35.21	46	25	SNP	0.898	T
FLJ33360	401172	genome.wustl.edu	37	5	6312341	6312341	+	lincRNA	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:6312341delT	ENST00000507444.1	-	0	631					NR_028351.1																						GACTAGGTGATTTTTTTTCCA	0.493																																																	0																																												0																															5.37:g.6312341delT				RNA	DEL	-	NULL	ENST00000507444.1	37	NULL		5																																																																																			CTD-2324F15.2	-	-	ENSG00000250490		0.493	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	FLJ33360	Clone_based_vega_gene	lincRNA	OTTHUMT00000365707.1		0.00	35	0	T			6312341	-1			no_errors	ENST00000507444	ensembl	human	known	74_37	rna	7.83	106	9	DEL	0.000	0
FLNC	2318	genome.wustl.edu	37	7	128498203	128498203	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:128498203G>A	ENST00000325888.8	+	47	8183	c.7922G>A	c.(7921-7923)cGg>cAg	p.R2641Q	FLNC_ENST00000346177.6_Missense_Mutation_p.R2608Q|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2641	Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGGTGACTCGGGGCCCTGGG	0.647																																																	0													21.0	23.0	22.0					7																	128498203		2025	4129	6154	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7922G>A	7.37:g.128498203G>A	ENSP00000327145:p.Arg2641Gln		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R2641Q	ENST00000325888.8	37	c.7922	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454405	0.84209	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84516	-1.86;-1.86	5.07	5.07	0.68467	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.056530	0.64402	D	0.000010	D	0.85856	0.5794	L	0.32530	0.975	0.43317	D	0.995339	P;D	0.69078	0.933;0.997	P;P	0.55667	0.564;0.781	D	0.84885	0.0833	10	0.33141	T	0.24	.	18.4516	0.90705	0.0:0.0:1.0:0.0	.	2608;2641	Q14315-2;Q14315	.;FLNC_HUMAN	Q	2641;2608	ENSP00000327145:R2641Q;ENSP00000344002:R2608Q	ENSP00000327145:R2641Q	R	+	2	0	FLNC	128285439	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	5.747000	0.68689	2.349000	0.79799	0.557000	0.71058	CGG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	-	0.00	51	0	G			128498203	+1	tier1	-	no_errors	ENST00000325888	ensembl	human	known	74_37	missense	35.83	76	43	SNP	1.000	A
FLOT2	2319	genome.wustl.edu	37	17	27211323	27211323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:27211323C>A	ENST00000394908.4	-	3	246	c.142G>T	c.(142-144)Gag>Tag	p.E48*	FLOT2_ENST00000394906.2_Nonsense_Mutation_p.E103*|FLOT2_ENST00000585169.1_Intron|FLOT2_ENST00000577789.1_Intron	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	48					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GTCATAATCTCTAGGGAAATC	0.602																																																	0													50.0	54.0	53.0					17																	27211323		2064	4184	6248	SO:0001587	stop_gained	0			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.142G>T	17.37:g.27211323C>A	ENSP00000378368:p.Glu48*			Nonsense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.E48*	ENST00000394908.4	37	c.142	CCDS11245.2	17	.	.	.	.	.	.	.	.	.	.	C	36	5.736076	0.96865	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	.	.	.	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-23.1753	17.4593	0.87616	0.0:1.0:0.0:0.0	.	.	.	.	X	103;48	.	ENSP00000378366:E103X	E	-	1	0	FLOT2	24235449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.353000	0.79882	0.563000	0.77884	GAG	FLOT2	-	pfam_Band_7	ENSG00000132589		0.602	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3		0.00	14	0	C	NM_004475		27211323	-1			no_errors	ENST00000394908	ensembl	human	known	74_37	nonsense	7.89	35	3	SNP	1.000	A
FLRT2	23768	genome.wustl.edu	37	14	86092478	86092478	+	3'UTR	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:86092478C>A	ENST00000330753.4	+	0	5387					NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATCCGTCTCCCATTTGTTACA	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.*2637C>A	14.37:g.86092478C>A			A0AV84|B7ZLP3	RNA	SNP	-	NULL	ENST00000330753.4	37	NULL	CCDS9877.1	14																																																																																			FLRT2	-	-	ENSG00000185070		0.428	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	-	0.00	32	0	C			86092478	+1	tier1	-	no_errors	ENST00000553650	ensembl	human	putative	74_37	rna	16.36	45	9	SNP	0.000	A
FLT3	2322	genome.wustl.edu	37	13	28636205	28636205	+	Splice_Site	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:28636205A>G	ENST00000241453.7	-	3	248	c.167T>C	c.(166-168)gTa>gCa	p.V56A	FLT3_ENST00000380982.4_Splice_Site_p.V56A|FLT3_ENST00000537084.1_Splice_Site_p.V56A	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	56					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGATTCTGATACCTACGTTGC	0.488			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													68.0	72.0	71.0					13																	28636205		2203	4300	6503	SO:0001630	splice_region_variant	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.166-1T>C	13.37:g.28636205A>G			A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V56A	ENST00000241453.7	37	c.167	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	A	10.10	1.257649	0.22965	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.78364	-1.1;-1.17;-0.91	5.78	-0.962	0.10333	.	0.658635	0.14535	N	0.313607	T	0.54515	0.1863	N	0.17082	0.46	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.32771	-0.9894	10	0.27785	T	0.31	.	3.935	0.09302	0.514:0.0:0.2184:0.2676	.	56;56	P36888-2;P36888	.;FLT3_HUMAN	A	56	ENSP00000241453:V56A;ENSP00000370369:V56A;ENSP00000438139:V56A	ENSP00000241453:V56A	V	-	2	0	FLT3	27534205	0.294000	0.24380	0.018000	0.16275	0.005000	0.04900	0.701000	0.25616	-0.056000	0.13221	-0.503000	0.04515	GTA	FLT3	-	NULL	ENSG00000122025		0.488	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2		0.00	13	0	A		Missense_Mutation	28636205	-1			no_errors	ENST00000380982	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.014	G
FLYWCH2	114984	genome.wustl.edu	37	16	2949270	2949270	+	3'UTR	DEL	T	T	-	rs76446842		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:2949270delT	ENST00000396958.3	+	0	923				FLYWCH2_ENST00000572786.1_3'UTR|FLYWCH2_ENST00000293981.6_3'UTR	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2								poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						Atttcttttcttttttttttt	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC014089	CCDS10482.1	16p13.3	2014-02-12	2007-06-21		ENSG00000162076	ENSG00000162076			25178	protein-coding gene	gene with protein product						12477932	Standard	NM_138439		Approved		uc010uwk.2	Q96CP2	OTTHUMG00000128962	ENST00000396958.3:c.*120T>-	16.37:g.2949270delT				RNA	DEL	-	NULL	ENST00000396958.3	37	NULL	CCDS10482.1	16																																																																																			FLYWCH2	-	-	ENSG00000162076		0.393	FLYWCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLYWCH2	HGNC	protein_coding	OTTHUMT00000250944.1		0.00	16	0	T	NM_138439		2949270	+1	tier1		no_errors	ENST00000572786	ensembl	human	putative	74_37	rna	14.29	24	4	DEL	0.000	-
FMOD	2331	genome.wustl.edu	37	1	203316470	203316470	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:203316470delG	ENST00000354955.4	-	2	1392	c.929delC	c.(928-930)ccafs	p.P310fs	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	310					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.P310R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTGTTGACTGGGGGGATCTT	0.527																																																	1	Substitution - Missense(1)	ovary(1)											145.0	135.0	138.0					1																	203316470		2203	4300	6503	SO:0001589	frameshift_variant	0			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.929delC	1.37:g.203316470delG	ENSP00000347041:p.Pro310fs		Q15331|Q8IV47	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.P310fs	ENST00000354955.4	37	c.929	CCDS30976.1	1																																																																																			FMOD	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000122176		0.527	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMOD	HGNC	protein_coding	OTTHUMT00000087472.1		0.00	30	0	G	NM_002023		203316470	-1	tier1		no_errors	ENST00000354955	ensembl	human	known	74_37	frame_shift_del	22.58	24	7	DEL	0.400	-
FNDC3B	64778	genome.wustl.edu	37	3	172096210	172096210	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:172096210delC	ENST00000336824.4	+	24	3258	c.3159delC	c.(3157-3159)gtcfs	p.V1053fs	FNDC3B_ENST00000415807.2_Frame_Shift_Del_p.V1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Del_p.V1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCAAAAGTGTCCCCCCCACCA	0.468																																																	0													69.0	70.0	69.0					3																	172096210		2203	4300	6503	SO:0001589	frameshift_variant	0			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3159delC	3.37:g.172096210delC	ENSP00000338523:p.Val1053fs		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T1056fs	ENST00000336824.4	37	c.3159	CCDS3217.1	3																																																																																			FNDC3B	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000075420		0.468	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2		0.00	44	0	C	NM_022763		172096210	+1	tier1		no_errors	ENST00000336824	ensembl	human	known	74_37	frame_shift_del	30.59	59	26	DEL	0.958	-
FNDC3B	64778	genome.wustl.edu	37	3	172098807	172098807	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:172098807C>T	ENST00000336824.4	+	25	3326	c.3227C>T	c.(3226-3228)aCg>aTg	p.T1076M	FNDC3B_ENST00000415807.2_Missense_Mutation_p.T1076M|FNDC3B_ENST00000416957.1_Missense_Mutation_p.T1076M	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1076	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.T1076R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTATGGGAGACGGTACCATCA	0.398																																																	1	Substitution - Missense(1)	lung(1)											175.0	165.0	168.0					3																	172098807		2203	4300	6503	SO:0001583	missense	0			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3227C>T	3.37:g.172098807C>T	ENSP00000338523:p.Thr1076Met		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T1076M	ENST00000336824.4	37	c.3227	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481069	0.44147	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57752	0.38;0.38;0.38	6.07	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.234215	0.50627	D	0.000111	T	0.42743	0.1216	L	0.35854	1.095	0.80722	D	1	B	0.27140	0.169	B	0.29663	0.105	T	0.23261	-1.0193	10	0.31617	T	0.26	-15.365	11.9477	0.52938	0.0:0.8719:0.0:0.1281	.	1076	Q53EP0	FND3B_HUMAN	M	1076	ENSP00000411242:T1076M;ENSP00000338523:T1076M;ENSP00000389094:T1076M	ENSP00000338523:T1076M	T	+	2	0	FNDC3B	173581501	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.503000	0.53340	2.885000	0.99019	0.655000	0.94253	ACG	FNDC3B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000075420		0.398	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	-	0.00	36	0	C	NM_022763		172098807	+1	tier1	-	no_errors	ENST00000336824	ensembl	human	known	74_37	missense	9.18	89	9	SNP	1.000	T
FNDC8	54752	genome.wustl.edu	37	17	33457310	33457310	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:33457310C>A	ENST00000158009.5	+	4	947	c.832C>A	c.(832-834)Ctg>Atg	p.L278M	NLE1_ENST00000586869.1_3'UTR	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	278	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		GTTTGCAACCCTGGCCACTGA	0.527																																																	0													66.0	64.0	65.0					17																	33457310		2203	4300	6503	SO:0001583	missense	0			BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"""Fibronectin type III domain containing"""	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.832C>A	17.37:g.33457310C>A	ENSP00000158009:p.Leu278Met		B2R9G6|Q9UFC2	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L278M	ENST00000158009.5	37	c.832	CCDS11290.1	17	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890764	0.33348	.	.	ENSG00000073598	ENST00000158009	T	0.43688	0.94	4.92	2.89	0.33648	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.312620	0.23343	N	0.049204	T	0.21267	0.0512	N	0.08118	0	0.80722	D	1	P	0.44578	0.838	B	0.39465	0.3	T	0.04961	-1.0915	10	0.66056	D	0.02	-13.0662	8.104	0.30874	0.0:0.1825:0.6455:0.1719	.	278	Q8TC99	FNDC8_HUMAN	M	278	ENSP00000158009:L278M	ENSP00000158009:L278M	L	+	1	2	FNDC8	30481423	0.449000	0.25689	0.990000	0.47175	0.985000	0.73830	0.434000	0.21494	0.765000	0.33221	-1.080000	0.02220	CTG	FNDC8	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000073598		0.527	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC8	HGNC	protein_coding	OTTHUMT00000256459.2	-	0.00	40	0	C	NM_017559		33457310	+1	tier1	-	no_errors	ENST00000158009	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.994	A
FOLR1	2348	genome.wustl.edu	37	11	71906681	71906681	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:71906681G>T	ENST00000393679.1	+	4	819	c.383G>T	c.(382-384)cGg>cTg	p.R128L	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.R128L|FOLR1_ENST00000393681.2_Missense_Mutation_p.R128L|FOLR1_ENST00000312293.4_Missense_Mutation_p.R128L			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	128	Folate binding.				cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	CGCAAAGAGCGGGTACTGAAC	0.537																																																	0													72.0	64.0	67.0					11																	71906681		2200	4293	6493	SO:0001583	missense	0			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.383G>T	11.37:g.71906681G>T	ENSP00000377284:p.Arg128Leu		Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.R128L	ENST00000393679.1	37	c.383	CCDS8211.1	11	.	.	.	.	.	.	.	.	.	.	g	19.68	3.873450	0.72180	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.45	5.45	0.79879	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.91236	0.7238	M	0.93328	3.405	0.58432	D	0.999998	D	0.76494	0.999	D	0.76575	0.988	D	0.92785	0.6243	10	0.62326	D	0.03	-21.4184	18.2226	0.89906	0.0:0.0:1.0:0.0	.	128	P15328	FOLR1_HUMAN	L	128	ENSP00000308137:R128L;ENSP00000377286:R128L;ENSP00000377284:R128L;ENSP00000377281:R128L	ENSP00000308137:R128L	R	+	2	0	FOLR1	71584329	1.000000	0.71417	0.948000	0.38648	0.204000	0.24138	8.983000	0.93477	2.700000	0.92200	0.563000	0.77884	CGG	FOLR1	-	pfam_Folate_rcpt-like	ENSG00000110195		0.537	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOLR1	HGNC	protein_coding	OTTHUMT00000396773.1	-	0.00	80	0	G	NM_016725		71906681	+1	tier1	-	no_errors	ENST00000312293	ensembl	human	known	74_37	missense	42.98	69	52	SNP	1.000	T
FOXB2	442425	genome.wustl.edu	37	9	79634851	79634851	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:79634851G>T	ENST00000376708.1	+	1	281	c.281G>T	c.(280-282)gGg>gTg	p.G94V		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	94					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CCCGACTGCGGGGACATGTTC	0.642																																																	0													39.0	43.0	42.0					9																	79634851		2203	4300	6503	SO:0001583	missense	0				CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.281G>T	9.37:g.79634851G>T	ENSP00000365898:p.Gly94Val			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1	p.G94V	ENST00000376708.1	37	c.281	CCDS35045.1	9	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403179	0.62288	.	.	ENSG00000204612	ENST00000376708	D	0.95377	-3.69	4.47	4.47	0.54385	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	L	0.41906	1.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96858	0.9630	10	0.54805	T	0.06	.	17.1266	0.86716	0.0:0.0:1.0:0.0	.	94	Q5VYV0	FOXB2_HUMAN	V	94	ENSP00000365898:G94V	ENSP00000365898:G94V	G	+	2	0	FOXB2	78824671	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.557000	0.67313	2.034000	0.60081	0.462000	0.41574	GGG	FOXB2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000204612		0.642	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXB2	HGNC	protein_coding	OTTHUMT00000052745.1	-	0.00	20	0	G	NM_001013735		79634851	+1	tier1	-	no_errors	ENST00000376708	ensembl	human	known	74_37	missense	64.10	14	25	SNP	1.000	T
FOXM1	2305	genome.wustl.edu	37	12	2968282	2968282	+	Missense_Mutation	SNP	G	G	A	rs199632659		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:2968282G>A	ENST00000359843.3	-	9	1882	c.1814C>T	c.(1813-1815)aCg>aTg	p.T605M	AC005841.1_ENST00000382678.3_5'Flank|Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000342628.2_Missense_Mutation_p.T643M|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Missense_Mutation_p.T590M	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	605					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GATGGGCAGCGTTTCCTTAAT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17338	0.0		0.0	False		,,,				2504	0.001																0								G	MET/THR,MET/THR,MET/THR	6,4390		0,6,2192	60.0	70.0	67.0		1814,1928,1769	0.5	0.0	12		67	0,8598		0,0,4299	yes	missense,missense,missense	FOXM1	NM_021953.3,NM_202002.2,NM_202003.2	81,81,81	0,6,6491	AA,AG,GG		0.0,0.1365,0.0462	benign,benign,benign	605/764,643/802,590/749	2968282	6,12988	2198	4299	6497	SO:0001583	missense	0			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1814C>T	12.37:g.2968282G>A	ENSP00000352901:p.Thr605Met		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.T643M	ENST00000359843.3	37	c.1928	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	G	1.313	-0.601736	0.03744	0.001365	0.0	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.92348	-2.95;-3.02;-2.94	4.6	0.531	0.17108	.	0.566665	0.19391	N	0.115401	T	0.80523	0.4639	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.31274	0.222;0.176;0.171;0.176;0.317	B;B;B;B;B	0.17979	0.013;0.006;0.02;0.006;0.02	T	0.65146	-0.6239	10	0.20046	T	0.44	.	0.5367	0.00638	0.3643:0.1742:0.2835:0.1781	.	589;605;590;605;643	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	M	643;590;605	ENSP00000342307:T643M;ENSP00000354492:T590M;ENSP00000352901:T605M	ENSP00000342307:T643M	T	-	2	0	FOXM1	2838543	0.000000	0.05858	0.002000	0.10522	0.297000	0.27493	-0.070000	0.11523	0.232000	0.21100	0.561000	0.74099	ACG	FOXM1	-	NULL	ENSG00000111206		0.602	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	-	0.00	32	0	G	NM_021953		2968282	-1	tier1	rs199632659	no_errors	ENST00000342628	ensembl	human	known	74_37	missense	40.43	28	19	SNP	0.002	A
FOXP3	50943	genome.wustl.edu	37	X	49108166	49108166	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:49108166G>A	ENST00000376207.4	-	11	1292	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	FOXP3_ENST00000376197.1_Missense_Mutation_p.R319C|FOXP3_ENST00000455775.2_Missense_Mutation_p.R342C|FOXP3_ENST00000557224.1_Missense_Mutation_p.R334C|FOXP3_ENST00000518685.1_Missense_Mutation_p.R334C|FOXP3_ENST00000376199.2_Missense_Mutation_p.R334C	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	369					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GCAAACATGCGTGTGAACCAG	0.572																																					GBM(182;1432 2112 16160 23073 31774)												0													111.0	74.0	87.0					X																	49108166		2202	4300	6502	SO:0001583	missense	0				CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.1105C>T	X.37:g.49108166G>A	ENSP00000365380:p.Arg369Cys		A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R369C	ENST00000376207.4	37	c.1105	CCDS14323.1	X	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255367	0.59321	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	4.36	3.42	0.39159	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.745924	0.11617	N	0.546148	D	0.97433	0.9160	M	0.85373	2.75	0.51482	D	0.999921	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.987;0.992;0.985;0.987;0.978	D	0.96308	0.9226	10	0.87932	D	0	.	8.7929	0.34861	0.0:0.0:0.5449:0.455	.	342;392;334;369;334	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	C	369;334;334;334;319;342	ENSP00000365380:R369C;ENSP00000365372:R334C;ENSP00000451208:R334C;ENSP00000428952:R334C;ENSP00000365369:R319C;ENSP00000396415:R342C	ENSP00000365369:R319C	R	-	1	0	FOXP3	48995110	0.359000	0.24955	1.000000	0.80357	0.925000	0.55904	1.446000	0.35090	1.756000	0.51951	0.287000	0.19450	CGC	FOXP3	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000049768		0.572	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXP3	HGNC	protein_coding	OTTHUMT00000060814.1	-	0.00	22	0	G	NM_014009		49108166	-1	tier1	-	no_errors	ENST00000376207	ensembl	human	known	74_37	missense	79.41	7	27	SNP	0.890	A
FPGS	2356	genome.wustl.edu	37	9	130567066	130567067	+	Intron	INS	-	-	C	rs560085760	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:130567066_130567067insC	ENST00000373247.2	+	4	436				FPGS_ENST00000373225.3_Intron|FPGS_ENST00000393706.2_Intron|FPGS_ENST00000373245.1_Intron|FPGS_ENST00000460181.1_Intron	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase						brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GACCAGGGTCACCCCCAGGAGG	0.515																																																	0																																										SO:0001627	intron_variant	0				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.386+87->C	9.37:g.130567071_130567071dupC			B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	RNA	INS	-	NULL	ENST00000373247.2	37	NULL	CCDS35148.1	9																																																																																			FPGS	-	-	ENSG00000136877		0.515	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGS	HGNC	protein_coding	OTTHUMT00000054251.1		0.00	15	0	-			130567067	+1	tier1		no_errors	ENST00000469310	ensembl	human	known	74_37	rna	16.67	15	3	INS	0.002:0.002	C
FPGT-TNNI3K	100526835	genome.wustl.edu	37	1	74930383	74930383	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:74930383A>G	ENST00000370899.3	+	24	2526	c.2489A>G	c.(2488-2490)aAt>aGt	p.N830S	TNNI3K_ENST00000326637.3_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		AAGAAGAAAAATGAAGATCGT	0.358																																																	0													18.0	18.0	18.0					1																	74930383		876	1989	2865	SO:0001583	missense	0					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2489A>G	1.37:g.74930383A>G	ENSP00000359936:p.Asn830Ser			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.N830S	ENST00000370899.3	37	c.2489		1	.	.	.	.	.	.	.	.	.	.	A	1.368	-0.586777	0.03827	.	.	ENSG00000259030	ENST00000370899	T	0.74002	-0.8	3.67	1.32	0.21799	.	.	.	.	.	T	0.29749	0.0743	.	.	.	0.19300	N	0.999974	B	0.02656	0.0	B	0.06405	0.002	T	0.16041	-1.0416	8	0.18710	T	0.47	.	3.709	0.08413	0.6554:0.2258:0.1189:0.0	.	830	Q59H18-4	.	S	830	ENSP00000359936:N830S	ENSP00000359936:N830S	N	+	2	0	RP11-653A5.2	74702971	0.013000	0.17824	0.058000	0.19502	0.102000	0.19082	-0.331000	0.07914	0.273000	0.22049	0.459000	0.35465	AAT	FPGT-TNNI3K	-	NULL	ENSG00000259030		0.358	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3	-	0.00	110	0	A			74930383	+1	tier1	-	no_errors	ENST00000370899	ensembl	human	novel	74_37	missense	48.94	72	69	SNP	0.084	G
FRMD4A	55691	genome.wustl.edu	37	10	13735686	13735688	+	Intron	DEL	TTT	TTT	-	rs200663128	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:13735686_13735688delTTT	ENST00000357447.2	-	15	1486				FRMD4A_ENST00000378503.1_Intron|FRMD4A_ENST00000358621.4_Intron|FRMD4A_ENST00000492155.1_5'UTR	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A						establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTACTGATGCTTTTTTTTTTTTT	0.478																																																	0																																										SO:0001627	intron_variant	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1117+209AAA>-	10.37:g.13735695_13735697delTTT			A7E2Y3|Q5T377	RNA	DEL	-	NULL	ENST00000357447.2	37	NULL	CCDS7101.1	10																																																																																			FRMD4A	-	-	ENSG00000151474		0.478	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1		0.00	35	0	TTT	NM_018027		13735688	-1	tier1		no_errors	ENST00000492155	ensembl	human	known	74_37	rna	28.12	23	9	DEL	0.024:0.026:0.028	-
FRY	10129	genome.wustl.edu	37	13	32709319	32709319	+	Splice_Site	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:32709319T>C	ENST00000380250.3	+	10	1572	c.1076T>C	c.(1075-1077)tTg>tCg	p.L359S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	359						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAGCATTCCTTGGTTAGTAAC	0.393																																																	0													51.0	45.0	47.0					13																	32709319		1826	4082	5908	SO:0001630	splice_region_variant	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1077+1T>C	13.37:g.32709319T>C			Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L359S	ENST00000380250.3	37	c.1076	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	T	27.2	4.808262	0.90707	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.24538	1.85	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	M	0.75085	2.285	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.55780	-0.8087	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	359	Q5TBA9	FRY_HUMAN	S	359;287	ENSP00000369600:L359S	ENSP00000267067:L287S	L	+	2	0	FRY	31607319	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.920000	0.87521	2.371000	0.80710	0.533000	0.62120	TTG	FRY	-	NULL	ENSG00000073910		0.393	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	-	0.00	37	0	T	NM_023037	Missense_Mutation	32709319	+1	tier1	-	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	52.94	16	18	SNP	1.000	C
FSIP2	401024	genome.wustl.edu	37	2	186671157	186671157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:186671157delC	ENST00000424728.1	+	17	17124	c.17124delC	c.(17122-17124)agcfs	p.S5708fs	FSIP2_ENST00000343098.5_Frame_Shift_Del_p.S5797fs			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5708										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATGACCAAAGCCCCCCAGGTG	0.333																																																	0													91.0	86.0	88.0					2																	186671157		1810	4073	5883	SO:0001589	frameshift_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17124delC	2.37:g.186671157delC	ENSP00000401306:p.Ser5708fs		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Frame_Shift_Del	DEL	NULL	p.P5799fs	ENST00000424728.1	37	c.17391		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.333	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3		0.00	43	0	C	NM_173651		186671157	+1	tier1		no_errors	ENST00000343098	ensembl	human	known	74_37	frame_shift_del	41.18	30	21	DEL	0.000	-
FZD6	8323	genome.wustl.edu	37	8	104343649	104343649	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:104343649G>A	ENST00000358755.4	+	7	2350	c.2033G>A	c.(2032-2034)aGc>aAc	p.S678N	FZD6_ENST00000540287.1_Missense_Mutation_p.S373N|FZD6_ENST00000522566.1_Missense_Mutation_p.S678N|FZD6_ENST00000523739.1_Missense_Mutation_p.S646N	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	678					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCAGAACCAAGCAGCCTCAAA	0.438																																																	0													150.0	145.0	147.0					8																	104343649		2203	4300	6503	SO:0001583	missense	0			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.2033G>A	8.37:g.104343649G>A	ENSP00000351605:p.Ser678Asn		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.S678N	ENST00000358755.4	37	c.2033	CCDS6298.1	8	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435411	0.25813	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	T;T;T;T	0.76448	-0.99;-0.99;-1.02;-0.94	5.81	0.88	0.19161	.	3.384570	0.00496	N	0.000145	T	0.58509	0.2127	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.52749	-0.8534	10	0.02654	T	1	.	5.8935	0.18927	0.2647:0.2291:0.5062:0.0	.	623;373;678	B4E236;F5H831;O60353	.;.;FZD6_HUMAN	N	678;678;646;373;623	ENSP00000429055:S678N;ENSP00000351605:S678N;ENSP00000429528:S646N;ENSP00000443757:S373N	ENSP00000351605:S678N	S	+	2	0	FZD6	104412825	0.752000	0.28338	0.213000	0.23690	0.994000	0.84299	0.896000	0.28377	0.092000	0.17331	-0.145000	0.13849	AGC	FZD6	-	NULL	ENSG00000164930		0.438	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD6	HGNC	protein_coding	OTTHUMT00000380560.1	-	0.00	65	0	G	NM_003506		104343649	+1	tier1	-	no_errors	ENST00000358755	ensembl	human	known	74_37	missense	10.07	134	15	SNP	0.047	A
G2E3	55632	genome.wustl.edu	37	14	31074772	31074772	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:31074772delA	ENST00000206595.6	+	11	1226	c.1072delA	c.(1072-1074)aaafs	p.K360fs	G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Frame_Shift_Del_p.K390fs|G2E3_ENST00000438909.2_Frame_Shift_Del_p.K314fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	360					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTCCAAATTAAAAAAAAAAC	0.274																																																	0										33,4205		0,33,2086	26.0	28.0	27.0			3.2	1.0	14		27	38,8192		0,38,4077	no	frameshift	G2E3	NM_017769.3		0,71,6163	A1A1,A1R,RR		0.4617,0.7787,0.5695			31074772	71,12397	2193	4291	6484	SO:0001589	frameshift_variant	0			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1072delA	14.37:g.31074772delA	ENSP00000206595:p.Lys360fs		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Frame_Shift_Del	DEL	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.T361fs	ENST00000206595.6	37	c.1072	CCDS9638.1	14																																																																																			G2E3	-	superfamily_HECT	ENSG00000092140		0.274	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2		0.00	19	0	A	NM_017769		31074772	+1	tier1		no_errors	ENST00000206595	ensembl	human	known	74_37	frame_shift_del	35.29	22	12	DEL	0.994	-
G2E3	55632	genome.wustl.edu	37	14	31074770	31074770	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:31074770T>A	ENST00000206595.6	+	11	1224	c.1070T>A	c.(1069-1071)aTt>aAt	p.I357N	G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Missense_Mutation_p.I387N|G2E3_ENST00000438909.2_Missense_Mutation_p.I311N	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	357					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGATTCCAAATTAAAAAAAAA	0.269																																																	0													25.0	28.0	27.0					14																	31074770		2193	4291	6484	SO:0001583	missense	0			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1070T>A	14.37:g.31074770T>A	ENSP00000206595:p.Ile357Asn		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.I357N	ENST00000206595.6	37	c.1070	CCDS9638.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.9|24.9	4.585263|4.585263	0.86748|0.86748	.|.	.|.	ENSG00000092140|ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504|ENST00000552515	T;T;T|.	0.44083|.	0.93;0.93;0.93|.	5.66|5.66	5.66|5.66	0.87406|0.87406	HECT (1);|.	0.305417|.	0.34700|.	N|.	0.003741|.	T|T	0.56746|0.56746	0.2006|0.2006	L|L	0.34521|0.34521	1.04|1.04	0.47511|0.47511	D|D	0.999441|0.999441	D|.	0.53885|.	0.963|.	P|.	0.50490|.	0.642|.	T|T	0.53315|0.53315	-0.8456|-0.8456	10|5	0.87932|.	D|.	0|.	-12.7477|-12.7477	14.7694|14.7694	0.69665|0.69665	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	357|.	Q7L622|.	G2E3_HUMAN|.	N|K	357;311;387|122	ENSP00000206595:I357N;ENSP00000391068:I311N;ENSP00000451653:I387N|.	ENSP00000206595:I357N|.	I|N	+|+	2|3	0|2	G2E3|G2E3	30144521|30144521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.172000|5.172000	0.65003|0.65003	2.284000|2.284000	0.76573|0.76573	0.528000|0.528000	0.53228|0.53228	ATT|AAT	G2E3	-	superfamily_HECT	ENSG00000092140		0.269	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2		0.00	17	0	T	NM_017769		31074770	+1			no_errors	ENST00000206595	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	A
G2E3	55632	genome.wustl.edu	37	14	31074772	31074772	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:31074772A>T	ENST00000206595.6	+	11	1226	c.1072A>T	c.(1072-1074)Aaa>Taa	p.K358*	G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Nonsense_Mutation_p.K388*|G2E3_ENST00000438909.2_Nonsense_Mutation_p.K312*	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTCCAAATTAAAAAAAAAAC	0.274																																																	0													26.0	28.0	27.0					14																	31074772		2193	4291	6484	SO:0001587	stop_gained	0			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1072A>T	14.37:g.31074772A>T	ENSP00000206595:p.Lys358*		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Nonsense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.K358*	ENST00000206595.6	37	c.1072	CCDS9638.1	14	.	.	.	.	.	.	.	.	.	.	A	48	14.922180	0.99815	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	.	.	.	5.66	5.66	0.87406	.	0.397439	0.28895	N	0.013781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5027	14.7694	0.69665	1.0:0.0:0.0:0.0	.	.	.	.	X	358;312;388	.	ENSP00000206595:K358X	K	+	1	0	G2E3	30144523	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	3.378000	0.52432	2.284000	0.76573	0.528000	0.53228	AAA	G2E3	-	superfamily_HECT	ENSG00000092140		0.274	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2		0.00	19	0	A	NM_017769		31074772	+1			no_errors	ENST00000206595	ensembl	human	known	74_37	nonsense	11.76	18	4	SNP	0.994	T
G6PC2	57818	genome.wustl.edu	37	2	169764753	169764753	+	IGR	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:169764753delT	ENST00000375363.3	+	0	1214				G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						cgcactggtctttttttttaa	0.388																																																	0																																										SO:0001628	intergenic_variant	0			AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182		2.37:g.169764753delT			E9PAX2|Q6AHZ0	RNA	DEL	-	NULL	ENST00000375363.3	37	NULL	CCDS2230.1	2																																																																																			G6PC2	-	-	ENSG00000152254		0.388	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G6PC2	HGNC	protein_coding	OTTHUMT00000255234.2		0.00	11	0	T	NM_021176		169764753	+1	tier1		no_errors	ENST00000461586	ensembl	human	known	74_37	rna	28.57	10	4	DEL	0.000	-
GAA	2548	genome.wustl.edu	37	17	78085835	78085835	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:78085835T>C	ENST00000302262.3	+	12	1909	c.1690T>C	c.(1690-1692)Ttt>Ctt	p.F564L	GAA_ENST00000390015.3_Missense_Mutation_p.F564L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	564					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CAGCCACCAGTTTCTCTCCAC	0.672																																																	0													130.0	105.0	114.0					17																	78085835		2203	4300	6503	SO:0001583	missense	0				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1690T>C	17.37:g.78085835T>C	ENSP00000305692:p.Phe564Leu		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.F564L	ENST00000302262.3	37	c.1690	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166796	0.38217	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.92752	-3.1;-3.1	4.65	2.39	0.29439	Glycoside hydrolase, superfamily (1);	0.327111	0.33092	N	0.005285	D	0.83552	0.5279	L	0.28115	0.83	0.28938	N	0.891143	B	0.06786	0.001	B	0.12837	0.008	T	0.69778	-0.5053	10	0.23302	T	0.38	.	7.4787	0.27391	0.0:0.2542:0.0:0.7458	.	564	P10253	LYAG_HUMAN	L	564	ENSP00000305692:F564L;ENSP00000374665:F564L	ENSP00000305692:F564L	F	+	1	0	GAA	75700430	0.985000	0.35326	0.866000	0.34008	0.888000	0.51559	0.171000	0.16685	0.157000	0.19338	0.533000	0.62120	TTT	GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000171298		0.672	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	-	0.00	26	0	T			78085835	+1	tier1	-	no_errors	ENST00000302262	ensembl	human	known	74_37	missense	28.85	37	15	SNP	1.000	C
GADD45GIP1	90480	genome.wustl.edu	37	19	13065136	13065138	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:13065136_13065138delCTT	ENST00000316939.1	-	2	576_578	c.553_555delAAG	c.(553-555)aagdel	p.K185del		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	185					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						GCTTGCGCTCCTTCTTCTCTAGG	0.635																																																	0																																										SO:0001651	inframe_deletion	0			AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"""papillomavirus L2 interacting nuclear protein 1"", ""CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""p53-responsive gene 6"""	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.553_555delAAG	19.37:g.13065139_13065141delCTT	ENSP00000323065:p.Lys185del		Q8IVM3|Q8TE51|Q969P9|Q9BSM6	In_Frame_Del	DEL	pfam_Damage-induce-interacting_prot	p.K185in_frame_del	ENST00000316939.1	37	c.555_553	CCDS12290.1	19																																																																																			GADD45GIP1	-	pfam_Damage-induce-interacting_prot	ENSG00000179271		0.635	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADD45GIP1	HGNC	protein_coding	OTTHUMT00000452759.2		0.00	55	0	CTT	NM_052850		13065138	-1	tier1		no_errors	ENST00000316939	ensembl	human	known	74_37	in_frame_del	33.33	78	39	DEL	1.000:1.000:1.000	-
GALNTL6	442117	genome.wustl.edu	37	4	173150833	173150833	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:173150833G>A	ENST00000506823.1	+	3	822	c.165G>A	c.(163-165)ggG>ggA	p.G55G	GALNTL6_ENST00000508122.1_Silent_p.G38G	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	55					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TGGGAGATGGGCAATTCTATT	0.448																																																	0													117.0	102.0	107.0					4																	173150833		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.165G>A	4.37:g.173150833G>A			Q2L4S6	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G55	ENST00000506823.1	37	c.165	CCDS34104.1	4																																																																																			GALNTL6	-	NULL	ENSG00000174473		0.448	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	-	0.00	69	0	G	NM_001034845		173150833	+1	tier1	-	no_errors	ENST00000506823	ensembl	human	known	74_37	silent	35.80	52	29	SNP	1.000	A
GAN	8139	genome.wustl.edu	37	16	81410849	81410849	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:81410849T>C	ENST00000568107.2	+	10	1690	c.1528T>C	c.(1528-1530)Tta>Cta	p.L510L		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	510					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CGACCAGAATTTATGCATCCC	0.398																																					GBM(106;1239 1507 7582 9741 33976)												0													216.0	210.0	212.0					16																	81410849		2201	4300	6501	SO:0001819	synonymous_variant	0			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1528T>C	16.37:g.81410849T>C				Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L510	ENST00000568107.2	37	c.1528	CCDS10935.1	16																																																																																			GAN	-	pirsf_Kelch-like_gigaxonin	ENSG00000261609		0.398	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAN	HGNC	protein_coding	OTTHUMT00000269050.3	-	0.00	124	0	T			81410849	+1	tier1	-	no_errors	ENST00000568107	ensembl	human	known	74_37	silent	40.55	129	88	SNP	0.233	C
NDUFS1	4719	genome.wustl.edu	37	2	206980715	206980715	+	3'UTR	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:206980715delT	ENST00000233190.6	-	0	10644				AC007383.4_ENST00000453039.1_RNA	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTAACAGTAGTTTTTTTTTCC	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.*8194A>-	2.37:g.206980715delT			B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	RNA	DEL	-	NULL	ENST00000233190.6	37	NULL	CCDS2366.1	2																																																																																			AC007383.4	-	-	ENSG00000231955		0.323	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCSHP3	Clone_based_vega_gene	protein_coding	OTTHUMT00000256391.4		0.00	54	0	T	NM_005006		206980715	+1	tier1		no_errors	ENST00000453039	ensembl	human	known	74_37	rna	14.29	66	11	DEL	0.033	-
GGA3	23163	genome.wustl.edu	37	17	73234468	73234470	+	Splice_Site	DEL	CTC	CTC	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:73234468_73234470delCTC	ENST00000245541.6	-	17	2278_2280	c.2062_2064delGAG	c.(2062-2064)gagdel	p.E688del	GGA3_ENST00000538886.1_Splice_Site_p.E566del|GGA3_ENST00000351904.7_Splice_Site_p.E655del|GGA3_ENST00000582486.1_Intron|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582717.1_Splice_Site_p.E616del	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	688	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GCCGCACCTTCTCCTGTGACAGA	0.611											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001630	splice_region_variant	0			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.2062-1GAG>-	17.37:g.73234468_73234470delCTC		1143	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	In_Frame_Del	DEL	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.E688in_frame_del	ENST00000245541.6	37	c.2064_2062	CCDS11717.1	17																																																																																			GGA3	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app	ENSG00000125447		0.611	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	HGNC	protein_coding	OTTHUMT00000446645.1		0.00	25	0	CTC	NM_138619	In_Frame_Del	73234470	-1	tier1		no_errors	ENST00000245541	ensembl	human	known	74_37	in_frame_del	41.86	25	18	DEL	1.000:1.000:1.000	-
GGT7	2686	genome.wustl.edu	37	20	33451230	33451230	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:33451230C>T	ENST00000336431.5	-	2	335	c.291G>A	c.(289-291)gcG>gcA	p.A97A		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	97					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGCACTCGGCCGCTGCGGCGG	0.672																																																	0													36.0	30.0	32.0					20																	33451230		2202	4299	6501	SO:0001819	synonymous_variant	0			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.291G>A	20.37:g.33451230C>T			Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.A97	ENST00000336431.5	37	c.291	CCDS13242.2	20																																																																																			GGT7	-	NULL	ENSG00000131067		0.672	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	-	0.00	30	0	C	NM_178026		33451230	-1	tier1	-	no_errors	ENST00000336431	ensembl	human	novel	74_37	silent	55.84	33	43	SNP	0.000	T
GLG1	2734	genome.wustl.edu	37	16	74526855	74526855	+	Splice_Site	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:74526855C>G	ENST00000422840.2	-	7	1233	c.1234G>C	c.(1234-1236)Ggg>Cgg	p.G412R	GLG1_ENST00000205061.5_Splice_Site_p.G412R|GLG1_ENST00000447066.2_Splice_Site_p.G401R	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	412					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TGAATGCTACCTCTGTGTACA	0.388																																																	0													58.0	52.0	54.0					16																	74526855		2198	4300	6498	SO:0001630	splice_region_variant	0				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1234+1G>C	16.37:g.74526855C>G			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	pfam_Cys-rich_GLG1_repeat	p.G412R	ENST00000422840.2	37	c.1234	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	C	30	5.053171	0.93793	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	M	0.73962	2.25	0.80722	D	1	P;P;D	0.89917	0.93;0.61;1.0	P;B;D	0.87578	0.585;0.323;0.998	T	0.78583	-0.2148	8	.	.	.	-4.4433	20.0442	0.97604	0.0:1.0:0.0:0.0	.	412;412;401	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	R	412;401;412	.	.	G	-	1	0	GLG1	73084356	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.610000	0.82949	2.814000	0.96858	0.655000	0.94253	GGG	GLG1	-	pfam_Cys-rich_GLG1_repeat	ENSG00000090863		0.388	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	-	0.00	30	0	C	NM_012201	Missense_Mutation	74526855	-1	tier1	-	no_errors	ENST00000205061	ensembl	human	known	74_37	missense	45.71	19	16	SNP	1.000	G
GLI3	2737	genome.wustl.edu	37	7	42085011	42085011	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:42085011G>A	ENST00000395925.3	-	6	882	c.798C>T	c.(796-798)atC>atT	p.I266I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	266					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATTCCATGTGGATGGCCCCCG	0.512									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													114.0	125.0	121.0					7																	42085011		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.798C>T	7.37:g.42085011G>A			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I266	ENST00000395925.3	37	c.798	CCDS5465.1	7																																																																																			GLI3	-	NULL	ENSG00000106571		0.512	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0.00	53	0	G	NM_000168		42085011	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	silent	35.24	67	37	SNP	1.000	A
GLUD1P2	100381203	genome.wustl.edu	37	10	48980252	48980252	+	RNA	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:48980252C>G	ENST00000594520.1	+	0	915									glutamate dehydrogenase 1 pseudogene 2																		ACTGTTTCCCCTTCCTGTGCT	0.438																																																	0																																												0			X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48980252C>G				RNA	SNP	-	NULL	ENST00000594520.1	37	NULL		10																																																																																			GLUD1P2	-	-	ENSG00000227781		0.438	GLUD1P2-003	KNOWN	basic	processed_transcript	GLUD1P2	HGNC	pseudogene	OTTHUMT00000461126.1	-	0.00	14	0	C	NG_016765		48980252	+1	tier1	-	no_errors	ENST00000594520	ensembl	human	known	74_37	rna	28.95	27	11	SNP	0.998	G
GMEB1	10691	genome.wustl.edu	37	1	29041386	29041387	+	IGR	DEL	AA	AA	-	rs528044464	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:29041386_29041387delAA	ENST00000294409.2	+	0	1912				GMEB1_ENST00000361872.4_3'UTR|GMEB1_ENST00000373816.1_3'UTR|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTTTTTTAAAAAAAAAAAA	0.347																																																	0																																										SO:0001628	intergenic_variant	0			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647		1.37:g.29041396_29041397delAA			B1AT48|Q9NWH1|Q9UKD0	RNA	DEL	-	NULL	ENST00000294409.2	37	NULL	CCDS327.1	1																																																																																			GMEB1	-	-	ENSG00000162419		0.347	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1		0.00	20	0	AA	NM_006582		29041387	+1	tier1		no_errors	ENST00000480454	ensembl	human	known	74_37	rna	45.45	6	5	DEL	0.252:0.049	-
GOLGA2	2801	genome.wustl.edu	37	9	131019390	131019390	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:131019390delA	ENST00000421699.2	-	26	2977	c.2965delT	c.(2965-2967)tacfs	p.Y989fs	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Frame_Shift_Del_p.Y977fs	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	989					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.Y977fs*9(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCAGCCCGGTAAAAAAAAGGA	0.562																																																	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)											92.0	103.0	99.0					9																	131019390		2203	4300	6503	SO:0001589	frameshift_variant	0			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2965delT	9.37:g.131019390delA	ENSP00000416097:p.Tyr989fs		Q6GRM9|Q9BRB0|Q9NYF9	Frame_Shift_Del	DEL	superfamily_CofA_tubulin-bd	p.Y989fs	ENST00000421699.2	37	c.2965	CCDS6896.2	9																																																																																			GOLGA2	-	NULL	ENSG00000167110		0.562	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2		0.00	30	0	A	NM_004486		131019390	-1	tier1		no_errors	ENST00000421699	ensembl	human	known	74_37	frame_shift_del	16.46	66	13	DEL	1.000	-
GOLGA2	2801	genome.wustl.edu	37	9	131020798	131020798	+	Missense_Mutation	SNP	T	T	G	rs201018639|rs112603354	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:131020798T>G	ENST00000421699.2	-	21	2156	c.2144A>C	c.(2143-2145)gAg>gCg	p.E715A	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.E703A	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	715	Poly-Glu.				mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TGCCACCGcctcctcctcctc	0.632																																																	0													38.0	43.0	41.0					9																	131020798		2201	4300	6501	SO:0001583	missense	0			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2144A>C	9.37:g.131020798T>G	ENSP00000416097:p.Glu715Ala		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	superfamily_CofA_tubulin-bd	p.E715A	ENST00000421699.2	37	c.2144	CCDS6896.2	9	.	.	.	.	.	.	.	.	.	.	t	9.585	1.124518	0.20959	.	.	ENSG00000167110	ENST00000421699	D	0.90069	-2.61	3.63	1.17	0.20885	.	1.766590	0.03436	N	0.208507	D	0.87485	0.6189	M	0.86268	2.805	0.09310	N	1	B	0.17268	0.021	B	0.13407	0.009	T	0.58387	-0.7645	10	0.10636	T	0.68	.	2.2501	0.04041	0.1473:0.093:0.1731:0.5865	.	715	Q08379	GOGA2_HUMAN	A	715	ENSP00000416097:E715A	ENSP00000416097:E715A	E	-	2	0	GOLGA2	130060619	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	-1.069000	0.03444	-0.001000	0.14495	-0.339000	0.08088	GAG	GOLGA2	-	NULL	ENSG00000167110		0.632	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2		0.00	11	0	T	NM_004486		131020798	-1			no_errors	ENST00000421699	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.004	G
GOLGA2P5	55592	genome.wustl.edu	37	12	100562921	100562921	+	RNA	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:100562921delT	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GTCTCATTTGTTTTttttttt	0.403																																																	0																																												0																															12.37:g.100562921delT			Q9NSV2	RNA	DEL	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2B	-	-	ENSG00000238105		0.403	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	Clone_based_vega_gene	pseudogene	OTTHUMT00000396439.2		0.00	25	0	T			100562921	-1	tier1		no_errors	ENST00000421840	ensembl	human	known	74_37	rna	36.36	14	8	DEL	0.000	-
GOLGA8DP	100132979	genome.wustl.edu	37	15	22709152	22709152	+	RNA	SNP	G	G	T	rs368651947		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:22709152G>T	ENST00000314246.8	-	0	1244				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											GGCCTGGAGCGCTCCTGCCAC	0.607																																																	0																																												0					15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709152G>T				RNA	SNP	-	NULL	ENST00000314246.8	37	NULL		15	.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005164	0.02112	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.887	-0.534	0.11883	.	.	.	.	.	T	0.14917	0.0360	.	.	.	0.22629	N	0.99892	B	0.06786	0.001	B	0.08055	0.003	T	0.39461	-0.9613	6	0.02654	T	1	.	4.9893	0.14205	0.0:0.0:0.3107:0.6893	.	116	F8WBT8	.	E	116;116;334	.	ENSP00000327024:A116E	A	-	2	0	AC116165.1	20260516	0.948000	0.32251	0.006000	0.13384	0.011000	0.07611	0.915000	0.28638	-0.149000	0.11215	-1.606000	0.00808	GCG	GOLGA8DP	-	-	ENSG00000185182		0.607	GOLGA8DP-002	KNOWN	basic	processed_transcript	GOLGA8DP	HGNC	pseudogene	OTTHUMT00000415613.1		0.00	66	0	G	NR_027407		22709152	-1			no_errors	ENST00000314246	ensembl	human	known	74_37	rna	7.63	121	10	SNP	0.154	T
GOLPH3	64083	genome.wustl.edu	37	5	32143921	32143922	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:32143921_32143922insA	ENST00000265070.6	-	2	605_606	c.290_291insT	c.(289-291)ttafs	p.L97fs	GOLPH3_ENST00000512668.1_Intron	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	97					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CTCTCAATGCTAATTCAATTAA	0.332																																																	0																																										SO:0001589	frameshift_variant	0			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.291dupT	5.37:g.32143923_32143923dupA	ENSP00000265070:p.Leu97fs		Q9UIW5	Frame_Shift_Ins	INS	pfam_GPP34	p.L97fs	ENST00000265070.6	37	c.291_290	CCDS3896.1	5																																																																																			GOLPH3	-	pfam_GPP34	ENSG00000113384		0.332	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLPH3	HGNC	protein_coding	OTTHUMT00000207363.2		0.00	53	0	-	NM_022130		32143922	-1	tier1		no_errors	ENST00000265070	ensembl	human	known	74_37	frame_shift_ins	18.10	95	21	INS	1.000:1.000	A
GON4L	54856	genome.wustl.edu	37	1	155734981	155734981	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:155734981delG	ENST00000368331.1	-	21	4331	c.4283delC	c.(4282-4284)ccafs	p.P1428fs	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Frame_Shift_Del_p.P1428fs|GON4L_ENST00000271883.5_Frame_Shift_Del_p.P1428fs|GON4L_ENST00000361040.5_Frame_Shift_Del_p.P1428fs	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1428					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGCTTCCCTGGGGGGCTACT	0.512																																																	0													96.0	100.0	99.0					1																	155734981		2203	4300	6503	SO:0001589	frameshift_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4283delC	1.37:g.155734981delG	ENSP00000357315:p.Pro1428fs		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Frame_Shift_Del	DEL	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.P1428fs	ENST00000368331.1	37	c.4283		1																																																																																			GON4L	-	NULL	ENSG00000116580		0.512	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding			0.00	53	0	G	NM_032292		155734981	-1	tier1		no_errors	ENST00000368331	ensembl	human	known	74_37	frame_shift_del	19.67	49	12	DEL	0.079	-
GPAA1	8733	genome.wustl.edu	37	8	145138709	145138710	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:145138709_145138710delCT	ENST00000355091.4	+	4	580_581	c.459_460delCT	c.(457-462)gactctfs	p.S154fs	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Frame_Shift_Del_p.S94fs	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	154					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGGCTCTGACTCTACCAACAG	0.668																																																	0																																										SO:0001589	frameshift_variant	0			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.459_460delCT	8.37:g.145138711_145138712delCT	ENSP00000347206:p.Ser154fs		Q9NSS0|Q9UQ31	Frame_Shift_Del	DEL	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.S154fs	ENST00000355091.4	37	c.459_460	CCDS43776.1	8																																																																																			GPAA1	-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	ENSG00000197858		0.668	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1		0.00	29	0	CT	NM_003801		145138710	+1	tier1		no_errors	ENST00000355091	ensembl	human	known	74_37	frame_shift_del	26.67	99	36	DEL	0.052:0.022	-
GPATCH4	54865	genome.wustl.edu	37	1	156565387	156565389	+	In_Frame_Del	DEL	TTC	TTC	-	rs145851878	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:156565387_156565389delTTC	ENST00000438976.2	-	8	774_776	c.744_746delGAA	c.(742-747)aagaaa>aaa	p.248_249KK>K	GPATCH4_ENST00000368232.4_In_Frame_Del_p.243_244KK>K|GPATCH4_ENST00000497287.1_5'Flank			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	243							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGTCGCCTTTTCTTCTTCTTGC	0.468																																																	0									,	11,4233		5,1,2116					,	1.0	0.3			326	16,8190		8,0,4095	no	coding,coding	GPATCH4	NM_182679.2,NM_015590.3	,	13,1,6211	A1A1,A1R,RR		0.195,0.2592,0.2169	,	,		27,12423				SO:0001651	inframe_deletion	0			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.744_746delGAA	1.37:g.156565393_156565395delTTC	ENSP00000396441:p.Lys249del		Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	In_Frame_Del	DEL	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.K249in_frame_del	ENST00000438976.2	37	c.746_744	CCDS44245.1	1																																																																																			GPATCH4	-	NULL	ENSG00000160818		0.468	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPATCH4	HGNC	protein_coding	OTTHUMT00000386947.1		0.00	94	0	TTC	NM_017725		156565389	-1	tier1		no_errors	ENST00000438976	ensembl	human	known	74_37	in_frame_del	10.53	102	12	DEL	0.959:0.981:0.986	-
GPC2	221914	genome.wustl.edu	37	7	99767927	99767927	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:99767927delC	ENST00000292377.2	-	10	1833	c.1666delG	c.(1666-1668)gcafs	p.A556fs	GAL3ST4_ENST00000482469.1_5'Flank|GAL3ST4_ENST00000423751.1_5'Flank|GAL3ST4_ENST00000360039.4_5'Flank|GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	556					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAATAGATGCCCCCCCACTC	0.617																																																	0													63.0	50.0	54.0					7																	99767927		2203	4300	6503	SO:0001589	frameshift_variant	0			BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.1666delG	7.37:g.99767927delC	ENSP00000292377:p.Ala556fs		A4D2A7	Frame_Shift_Del	DEL	pfam_Glypican	p.A556fs	ENST00000292377.2	37	c.1666	CCDS5689.1	7																																																																																			GPC2	-	NULL	ENSG00000213420		0.617	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC2	HGNC	protein_coding	OTTHUMT00000337556.1		0.00	80	0	C	NM_152742		99767927	-1	tier1		no_errors	ENST00000292377	ensembl	human	known	74_37	frame_shift_del	22.32	87	25	DEL	0.006	-
GPD2	2820	genome.wustl.edu	37	2	157407142	157407142	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:157407142T>C	ENST00000310454.6	+	8	1227	c.855T>C	c.(853-855)tgT>tgC	p.C285C	GPD2_ENST00000540309.1_Silent_p.C285C|GPD2_ENST00000438166.2_Silent_p.C285C|GPD2_ENST00000409674.1_Silent_p.C285C|GPD2_ENST00000409125.4_Silent_p.C58C	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	285					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GAGCCAAATGTGTTATCAATG	0.453																																																	0													136.0	116.0	123.0					2																	157407142		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.855T>C	2.37:g.157407142T>C			A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep	p.C285	ENST00000310454.6	37	c.855	CCDS2202.1	2																																																																																			GPD2	-	pfam_FAD-dep_OxRdtase	ENSG00000115159		0.453	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	HGNC	protein_coding	OTTHUMT00000254910.3	-	0.00	33	0	T			157407142	+1	tier1	-	no_errors	ENST00000310454	ensembl	human	known	74_37	silent	45.00	22	18	SNP	1.000	C
GPER1	2852	genome.wustl.edu	37	7	1131884	1131884	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:1131884G>A	ENST00000297469.3	+	2	1211	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	GPER1_ENST00000401670.1_Missense_Mutation_p.A174T|GPER1_ENST00000397092.1_Missense_Mutation_p.A174T|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.A174T|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000397098.3_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	174					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CAAGCACCACGCCCGGCTGAG	0.647																																																	0													75.0	60.0	65.0					7																	1131884		2203	4300	6503	SO:0001583	missense	0			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.520G>A	7.37:g.1131884G>A	ENSP00000297469:p.Ala174Thr		A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A174T	ENST00000297469.3	37	c.520	CCDS5322.1	7	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831825	0.71258	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.055330	0.64402	D	0.000001	T	0.68439	0.3001	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73251	-0.4042	10	0.66056	D	0.02	-26.829	17.8628	0.88786	0.0:0.0:1.0:0.0	.	174	Q99527	GPER_HUMAN	T	174	ENSP00000385151:A174T;ENSP00000380281:A174T;ENSP00000297469:A174T;ENSP00000380277:A174T	ENSP00000297469:A174T	A	+	1	0	GPER	1098410	1.000000	0.71417	0.216000	0.23742	0.295000	0.27426	7.204000	0.77872	2.466000	0.83321	0.643000	0.83706	GCC	GPER1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000164850		0.647	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	GPER1	HGNC	protein_coding	OTTHUMT00000060001.1	-	0.00	34	0	G	NM_001039966		1131884	+1	tier1	-	no_errors	ENST00000297469	ensembl	human	known	74_37	missense	30.43	46	21	SNP	1.000	A
GPR113	165082	genome.wustl.edu	37	2	26535919	26535919	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:26535919C>T	ENST00000311519.1	-	10	1544	c.1545G>A	c.(1543-1545)gcG>gcA	p.A515A	GPR113_ENST00000541401.1_Silent_p.A118A|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Silent_p.A316A|GPR113_ENST00000421160.2_Silent_p.A446A	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	515					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A316A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCCTCTGCCGCCTGCCCTG	0.612																																																	1	Substitution - coding silent(1)	large_intestine(1)											109.0	93.0	99.0					2																	26535919		2203	4300	6503	SO:0001819	synonymous_variant	0			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1545G>A	2.37:g.26535919C>T			B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.A316	ENST00000311519.1	37	c.948	CCDS46239.1	2																																																																																			GPR113	-	pfam_DUF3497	ENSG00000173567		0.612	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	-	0.00	39	0	C	NM_153835		26535919	-1	tier1	-	no_errors	ENST00000333478	ensembl	human	known	74_37	silent	34.21	50	26	SNP	0.001	T
GPN1	11321	genome.wustl.edu	37	2	27858031	27858031	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:27858031A>G	ENST00000610189.1	+	7	461	c.454A>G	c.(454-456)Atc>Gtc	p.I152V	GPN1_ENST00000407583.3_Missense_Mutation_p.I140V|GPN1_ENST00000424214.1_Missense_Mutation_p.I73V|GPN1_ENST00000264718.3_Missense_Mutation_p.I166V|ZNF512_ENST00000556601.1_3'UTR|GPN1_ENST00000503738.1_Missense_Mutation_p.I57V|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Missense_Mutation_p.I57V|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000515877.1_Missense_Mutation_p.I73V	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						AACAGTTGTCATCTATGTAAT	0.448																																																	0													221.0	201.0	208.0					2																	27858031		2203	4300	6503	SO:0001583	missense	0			AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.454A>G	2.37:g.27858031A>G	ENSP00000476446:p.Ile152Val			Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I166V	ENST00000610189.1	37	c.496		2	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772484	0.49680	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	5.96	3.62	0.41486	ATPase, AAA+ type, core (1);	0.269833	0.42548	N	0.000688	T	0.03520	0.0101	N	0.01624	-0.795	0.35710	D	0.816315	B;B;B;B	0.09022	0.0;0.002;0.001;0.001	B;B;B;B	0.14023	0.004;0.01;0.006;0.007	T	0.32693	-0.9897	10	0.02654	T	1	-0.0373	6.4451	0.21871	0.7616:0.0:0.2384:0.0	.	152;166;57;140	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	V	73;57;57;73;140;166	ENSP00000424678:I73V;ENSP00000427269:I57V;ENSP00000412170:I57V;ENSP00000398115:I73V;ENSP00000384255:I140V;ENSP00000264718:I166V	ENSP00000264718:I166V	I	+	1	0	GPN1	27711535	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.140000	0.42159	1.075000	0.40932	-0.256000	0.11100	ATC	GPN1	-	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000198522		0.448	GPN1-010	KNOWN	basic|appris_principal	protein_coding	GPN1	HGNC	protein_coding	OTTHUMT00000473126.1	-	0.00	110	0	A	NM_007266		27858031	+1	tier1	-	no_errors	ENST00000264718	ensembl	human	known	74_37	missense	43.22	113	86	SNP	1.000	G
GPR125	166647	genome.wustl.edu	37	4	22414846	22414846	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:22414846T>C	ENST00000334304.5	-	14	2460	c.2191A>G	c.(2191-2193)Acg>Gcg	p.T731A	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	731	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CACTGAATCGTAGTGATATTT	0.398																																																	0													209.0	207.0	208.0					4																	22414846		2203	4300	6503	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2191A>G	4.37:g.22414846T>C	ENSP00000334952:p.Thr731Ala		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.T731A	ENST00000334304.5	37	c.2191	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	T	13.50	2.254835	0.39896	.	.	ENSG00000152990	ENST00000334304	T	0.69561	-0.41	5.6	4.43	0.53597	GPS domain (3);	0.098333	0.64402	N	0.000002	T	0.70219	0.3199	M	0.65320	2	0.80722	D	1	P;B	0.48503	0.911;0.02	P;B	0.50617	0.646;0.04	T	0.69450	-0.5142	10	0.44086	T	0.13	-20.4966	11.223	0.48866	0.0:0.0713:0.0:0.9287	.	588;731	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	A	731	ENSP00000334952:T731A	ENSP00000334952:T731A	T	-	1	0	GPR125	22023944	1.000000	0.71417	0.061000	0.19648	0.115000	0.19883	3.754000	0.55189	0.961000	0.38030	0.528000	0.53228	ACG	GPR125	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000152990		0.398	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	-	0.00	63	0	T			22414846	-1	tier1	-	no_errors	ENST00000334304	ensembl	human	known	74_37	missense	15.48	71	13	SNP	0.940	C
GPR141	353345	genome.wustl.edu	37	7	37780310	37780310	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:37780310C>G	ENST00000447769.1	+	4	604	c.315C>G	c.(313-315)ttC>ttG	p.F105L	GPR141_ENST00000334425.1_Missense_Mutation_p.F105L|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGTTCCTATTCTATGTGGTGA	0.478																																																	0													120.0	106.0	111.0					7																	37780310		2203	4300	6503	SO:0001583	missense	0			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.315C>G	7.37:g.37780310C>G	ENSP00000390410:p.Phe105Leu		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F105L	ENST00000447769.1	37	c.315	CCDS5451.1	7	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284928	0.80803	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.32272	1.46;1.46	5.06	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.116344	0.64402	D	0.000014	T	0.43033	0.1229	L	0.58969	1.84	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.26395	-1.0104	10	0.18710	T	0.47	-34.0154	8.0101	0.30349	0.0:0.7449:0.0:0.2551	.	105	Q7Z602	GP141_HUMAN	L	105	ENSP00000390410:F105L;ENSP00000334540:F105L	ENSP00000334540:F105L	F	+	3	2	GPR141	37746835	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	1.579000	0.36536	0.647000	0.30713	0.650000	0.86243	TTC	GPR141	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000187037		0.478	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	-	0.00	37	0	C	NM_181791		37780310	+1	tier1	-	no_errors	ENST00000334425	ensembl	human	known	74_37	missense	38.24	42	26	SNP	1.000	G
GPR142	350383	genome.wustl.edu	37	17	72363813	72363813	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:72363813A>G	ENST00000335666.4	+	1	217	c.169A>G	c.(169-171)Agg>Ggg	p.R57G		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	57						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CAGGTGGCTGAGGTCTCCACA	0.542																																																	0													80.0	69.0	73.0					17																	72363813		2203	4300	6503	SO:0001583	missense	0			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.169A>G	17.37:g.72363813A>G	ENSP00000335158:p.Arg57Gly		A4CYJ8|Q86SL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R57G	ENST00000335666.4	37	c.169	CCDS11698.1	17	.	.	.	.	.	.	.	.	.	.	A	12.86	2.063680	0.36373	.	.	ENSG00000257008	ENST00000335666	T	0.72167	-0.63	2.25	-0.171	0.13331	.	.	.	.	.	T	0.46132	0.1377	N	0.08118	0	0.29372	N	0.863915	B	0.06786	0.001	B	0.06405	0.002	T	0.37103	-0.9720	9	0.87932	D	0	.	5.2726	0.15632	0.6904:0.0:0.3096:0.0	.	57	Q7Z601	GP142_HUMAN	G	57	ENSP00000335158:R57G	ENSP00000335158:R57G	R	+	1	2	GPR142	69875408	1.000000	0.71417	0.002000	0.10522	0.246000	0.25737	3.123000	0.50453	-0.205000	0.10219	0.491000	0.48974	AGG	GPR142	-	NULL	ENSG00000257008		0.542	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	-	0.00	33	0	A	NM_181790		72363813	+1	tier1	-	no_errors	ENST00000335666	ensembl	human	known	74_37	missense	60.78	20	31	SNP	1.000	G
GPR153	387509	genome.wustl.edu	37	1	6311533	6311533	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:6311533C>T	ENST00000377893.2	-	4	1103	c.844G>A	c.(844-846)Gtg>Atg	p.V282M		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V282M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CACCACAGCACGCAGAGTGCC	0.692																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											43.0	41.0	42.0					1																	6311533		2203	4299	6502	SO:0001583	missense	0			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.844G>A	1.37:g.6311533C>T	ENSP00000367125:p.Val282Met		Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162	p.V282M	ENST00000377893.2	37	c.844	CCDS64.1	1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623409	0.66901	.	.	ENSG00000158292	ENST00000377893	T	0.72505	-0.66	5.45	4.34	0.51931	.	0.059556	0.64402	D	0.000003	T	0.52613	0.1745	N	0.19112	0.55	0.46167	D	0.998901	P	0.51057	0.941	B	0.40134	0.32	T	0.58284	-0.7663	10	0.54805	T	0.06	-50.4604	9.9183	0.41448	0.0:0.764:0.1466:0.0894	.	282	Q6NV75	GP153_HUMAN	M	282	ENSP00000367125:V282M	ENSP00000367125:V282M	V	-	1	0	GPR153	6234120	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.998000	0.57024	2.561000	0.86390	0.643000	0.83706	GTG	GPR153	-	pfam_GPCR_Rhodpsn,prints_GCR_153/162	ENSG00000158292		0.692	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	-	0.00	16	0	C			6311533	-1	tier1	-	no_errors	ENST00000377893	ensembl	human	known	74_37	missense	41.94	18	13	SNP	0.930	T
GPR32	2854	genome.wustl.edu	37	19	51274615	51274615	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:51274615G>A	ENST00000270590.4	+	1	895	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	253					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CATGCCAACCGGCCCAAGAGG	0.617																																					Esophageal Squamous(113;152 1581 5732 15840 44398)												0													52.0	57.0	55.0					19																	51274615		2203	4300	6503	SO:0001583	missense	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.758G>A	19.37:g.51274615G>A	ENSP00000270590:p.Arg253Gln		Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.R253Q	ENST00000270590.4	37	c.758	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282736	0.40394	.	.	ENSG00000142511	ENST00000270590	T	0.40225	1.04	2.56	0.194	0.15143	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.52741	0.1753	L	0.60957	1.885	0.22500	N	0.999043	D	0.71674	0.998	D	0.68483	0.958	T	0.38866	-0.9641	9	0.72032	D	0.01	.	5.6593	0.17660	0.4314:0.0:0.5686:0.0	.	253	O75388	GPR32_HUMAN	Q	253	ENSP00000270590:R253Q	ENSP00000270590:R253Q	R	+	2	0	GPR32	55966427	0.004000	0.15560	0.002000	0.10522	0.448000	0.32197	0.606000	0.24194	-0.023000	0.13963	-0.698000	0.03680	CGG	GPR32	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt	ENSG00000142511		0.617	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	-	0.00	65	0	G			51274615	+1	tier1	-	no_errors	ENST00000270590	ensembl	human	known	74_37	missense	66.22	25	49	SNP	0.887	A
GPR37	2861	genome.wustl.edu	37	7	124386623	124386623	+	Missense_Mutation	SNP	G	G	A	rs200937236		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:124386623G>A	ENST00000303921.2	-	2	2448	c.1798C>T	c.(1798-1800)Cgc>Tgc	p.R600C		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	600					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATTTCACGGCGTATGGTACTG	0.448																																																	0													181.0	161.0	167.0					7																	124386623		2203	4300	6503	SO:0001583	missense	0				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1798C>T	7.37:g.124386623G>A	ENSP00000306449:p.Arg600Cys		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.R600C	ENST00000303921.2	37	c.1798	CCDS5792.1	7	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532958	0.64972	.	.	ENSG00000170775	ENST00000303921	T	0.75938	-0.98	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000027	T	0.80571	0.4648	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.80783	-0.1228	10	0.48119	T	0.1	-22.7768	18.0541	0.89358	0.0:0.0:1.0:0.0	.	600	O15354	GPR37_HUMAN	C	600	ENSP00000306449:R600C	ENSP00000306449:R600C	R	-	1	0	GPR37	124173859	1.000000	0.71417	0.751000	0.31187	0.857000	0.48899	7.208000	0.77907	2.489000	0.83994	0.655000	0.94253	CGC	GPR37	-	NULL	ENSG00000170775		0.448	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	HGNC	protein_coding	OTTHUMT00000347873.1	-	0.00	29	0	G	NM_005302		124386623	-1	tier1	rs200937236	no_errors	ENST00000303921	ensembl	human	known	74_37	missense	45.95	19	17	SNP	0.989	A
GPRIN3	285513	genome.wustl.edu	37	4	90169281	90169281	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:90169281C>A	ENST00000609438.1	-	2	2499	c.1981G>T	c.(1981-1983)Gga>Tga	p.G661*	GPRIN3_ENST00000333209.4_Nonsense_Mutation_p.G661*	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	661										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTCTTATCTCCTGGAGTGAGT	0.567																																																	0													62.0	62.0	62.0					4																	90169281		2203	4300	6503	SO:0001587	stop_gained	0			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1981G>T	4.37:g.90169281C>A	ENSP00000476603:p.Gly661*		Q8IVE4	Nonsense_Mutation	SNP	NULL	p.G661*	ENST00000609438.1	37	c.1981	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	C	40	7.984007	0.98594	.	.	ENSG00000185477	ENST00000333209	.	.	.	5.55	5.55	0.83447	.	0.000000	0.32190	N	0.006441	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.9671	17.675	0.88228	0.0:1.0:0.0:0.0	.	.	.	.	X	661	.	ENSP00000328672:G661X	G	-	1	0	GPRIN3	90388304	0.037000	0.19845	0.844000	0.33320	0.003000	0.03518	1.827000	0.39102	2.597000	0.87782	0.655000	0.94253	GGA	GPRIN3	-	NULL	ENSG00000185477		0.567	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	-	0.00	53	0	C	NM_198281		90169281	-1	tier1	-	no_errors	ENST00000333209	ensembl	human	known	74_37	nonsense	47.73	23	21	SNP	0.981	A
GPT	2875	genome.wustl.edu	37	8	145732306	145732306	+	Frame_Shift_Del	DEL	C	C	-	rs369193887		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:145732306delC	ENST00000528431.1	+	12	1571	c.1414delC	c.(1414-1416)cccfs	p.P473fs	GPT_ENST00000394955.2_Frame_Shift_Del_p.P473fs|MFSD3_ENST00000301327.4_5'Flank			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	473					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	GACCATTCTGCCCCCCTTGGA	0.622																																																	0													77.0	71.0	73.0					8																	145732306		2202	4300	6502	SO:0001589	frameshift_variant	0				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1414delC	8.37:g.145732306delC	ENSP00000433586:p.Pro473fs		B0YJ18|D3DWM7|P78398|Q93076	Frame_Shift_Del	DEL	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.L474fs	ENST00000528431.1	37	c.1414	CCDS6430.1	8																																																																																			GPT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000167701		0.622	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT	HGNC	protein_coding	OTTHUMT00000382471.1		0.00	35	0	C			145732306	+1	tier1		no_errors	ENST00000394955	ensembl	human	known	74_37	frame_shift_del	21.14	97	26	DEL	1.000	-
GRAMD4	23151	genome.wustl.edu	37	22	47062721	47062721	+	Splice_Site	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:47062721delG	ENST00000406902.1	+	10	1022		c.e10-1		GRAMD4_ENST00000361034.3_Splice_Site			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4						apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CTGTTCGCCAGGGGGTGGCGG	0.627																																																	0													227.0	198.0	208.0					22																	47062721		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.810-1G>-	22.37:g.47062721delG			A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Splice_Site	DEL	-	e9-1	ENST00000406902.1	37	c.810-1	CCDS33672.1	22																																																																																			GRAMD4	-	-	ENSG00000075240		0.627	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1		0.00	32	0	G	NM_015124	Intron	47062721	+1	tier1		no_errors	ENST00000361034	ensembl	human	known	74_37	splice_site_del	23.44	49	15	DEL	1.000	-
GRB10	2887	genome.wustl.edu	37	7	50737427	50737427	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:50737427C>T	ENST00000401949.1	-	7	965	c.496G>A	c.(496-498)Gca>Aca	p.A166T	GRB10_ENST00000439599.1_Missense_Mutation_p.A160T|GRB10_ENST00000398812.2_Missense_Mutation_p.A166T|GRB10_ENST00000402578.1_Missense_Mutation_p.A108T|GRB10_ENST00000407526.1_Missense_Mutation_p.A108T|GRB10_ENST00000406641.1_Missense_Mutation_p.A108T|GRB10_ENST00000335866.3_Missense_Mutation_p.A108T|GRB10_ENST00000402497.1_Missense_Mutation_p.A108T|GRB10_ENST00000357271.5_Missense_Mutation_p.A166T|GRB10_ENST00000398810.2_Missense_Mutation_p.A108T|GRB10_ENST00000403097.1_Missense_Mutation_p.A160T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	166	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ACCTGCTTTGCGGCGGCCTGG	0.587									Russell-Silver syndrome																																								0													20.0	23.0	22.0					7																	50737427		1873	4092	5965	SO:0001583	missense	0	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.496G>A	7.37:g.50737427C>T	ENSP00000385770:p.Ala166Thr		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.A166T	ENST00000401949.1	37	c.496	CCDS43582.1	7	.	.	.	.	.	.	.	.	.	.	.	14.00	2.406032	0.42715	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.71	-3.46	0.04767	Ras-association (2);	0.903088	0.09819	N	0.751759	T	0.48926	0.1527	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.004	B;B;B	0.10450	0.005;0.003;0.005	T	0.33214	-0.9877	10	0.13108	T	0.6	-2.1626	6.1857	0.20495	0.0:0.2538:0.3477:0.3985	.	160;166;166	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	T	166;160;108;108;108;160;108;166;108;166;108	ENSP00000381793:A166T;ENSP00000406716:A160T;ENSP00000338543:A108T;ENSP00000381790:A108T;ENSP00000385189:A108T;ENSP00000385544:A160T;ENSP00000385366:A108T;ENSP00000349818:A166T;ENSP00000385046:A108T;ENSP00000385770:A166T;ENSP00000385748:A108T	ENSP00000338543:A108T	A	-	1	0	GRB10	50704921	0.000000	0.05858	0.000000	0.03702	0.734000	0.41952	0.177000	0.16801	-0.500000	0.06614	0.655000	0.94253	GCA	GRB10	-	smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000106070		0.587	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB10	HGNC	protein_coding	OTTHUMT00000319157.1	-	0.00	48	0	C			50737427	-1	tier1	-	no_errors	ENST00000398812	ensembl	human	known	74_37	missense	23.61	55	17	SNP	0.000	T
GRB14	2888	genome.wustl.edu	37	2	165365288	165365288	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:165365288delT	ENST00000263915.3	-	7	1429	c.891delA	c.(889-891)aaafs	p.K297fs	GRB14_ENST00000543549.1_Frame_Shift_Del_p.K210fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	297	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GTGCTCCATGTTTTTTTTTGC	0.373																																																	2	Deletion - Frameshift(2)	ovary(1)|breast(1)											111.0	115.0	114.0					2																	165365288		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.891delA	2.37:g.165365288delT	ENSP00000263915:p.Lys297fs		B7Z7F9|Q7Z6I1	Frame_Shift_Del	DEL	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.K297fs	ENST00000263915.3	37	c.891	CCDS2222.1	2																																																																																			GRB14	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000115290		0.373	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2		0.00	42	0	T			165365288	-1	tier1		no_errors	ENST00000263915	ensembl	human	known	74_37	frame_shift_del	21.43	33	9	DEL	0.015	-
GRIN1	2902	genome.wustl.edu	37	9	140059553	140059553	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:140059553C>T	ENST00000371561.3	+	19	3686				GRIN1_ENST00000315048.3_Intron|GRIN1_ENST00000371559.4_Intron|GRIN1_ENST00000371555.4_Intron|GRIN1_ENST00000371553.3_Intron|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371550.4_Intron|GRIN1_ENST00000371560.3_Intron|GRIN1_ENST00000350902.5_3'UTR|GRIN1_ENST00000371546.4_Intron	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1						adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCGGCCAGGCTGGGCAGCGG	0.627																																					NSCLC(113;717 1653 2089 20474 37618)												0																																										SO:0001627	intron_variant	0				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.2590-85C>T	9.37:g.140059553C>T			A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	RNA	SNP	-	NULL	ENST00000371561.3	37	NULL	CCDS7031.1	9																																																																																			GRIN1	-	-	ENSG00000176884		0.627	GRIN1-002	KNOWN	basic|CCDS	protein_coding	GRIN1	HGNC	protein_coding	OTTHUMT00000055267.3	-	0.00	32	0	C	NM_007327		140059553	+1	tier1	-	no_errors	ENST00000471122	ensembl	human	known	74_37	rna	45.61	31	26	SNP	0.986	T
GRIP1	23426	genome.wustl.edu	37	12	66990679	66990679	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:66990679G>A	ENST00000398016.3	-	2	152	c.84C>T	c.(82-84)agC>agT	p.S28S	GRIP1_ENST00000286445.7_Silent_p.S28S|GRIP1_ENST00000359742.4_Silent_p.S28S	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCTTTGTCTGGCTGGCGGATT	0.448																																																	0													106.0	110.0	109.0					12																	66990679		1899	4124	6023	SO:0001819	synonymous_variant	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.84C>T	12.37:g.66990679G>A			B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S28	ENST00000398016.3	37	c.84	CCDS41807.1	12																																																																																			GRIP1	-	superfamily_PDZ	ENSG00000155974		0.448	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	-	0.00	35	0	G			66990679	-1	tier1	-	no_errors	ENST00000359742	ensembl	human	known	74_37	silent	40.00	21	14	SNP	1.000	A
GSN	2934	genome.wustl.edu	37	9	124074813	124074813	+	Intron	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:124074813A>G	ENST00000373818.4	+	5	885				GSN_ENST00000436847.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000373807.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000412819.1_Intron|GSN_ENST00000545652.1_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CACGCTGCTCATGACTTTCTT	0.498																																																	0													18.0	17.0	17.0					9																	124074813		2203	4300	6503	SO:0001627	intron_variant	0			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.816+47A>G	9.37:g.124074813A>G			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	SNP	-	NULL	ENST00000373818.4	37	NULL	CCDS6828.1	9																																																																																			GSN	-	-	ENSG00000148180		0.498	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	-	0.00	11	0	A	NM_000177		124074813	+1	tier1	-	no_errors	ENST00000485767	ensembl	human	known	74_37	rna	23.26	33	10	SNP	0.000	G
GSR	2936	genome.wustl.edu	37	8	30546820	30546820	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:30546820delT	ENST00000221130.5	-	9	989	c.899delA	c.(898-900)aagfs	p.K300fs	GSR_ENST00000546342.1_Frame_Shift_Del_p.K271fs|GSR_ENST00000541648.1_Intron|GSR_ENST00000414019.1_Frame_Shift_Del_p.K257fs|GSR_ENST00000537535.1_Intron	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	300					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	CGACAAAGTCTTTTTAACCTC	0.478																																																	0													93.0	88.0	90.0					8																	30546820		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.899delA	8.37:g.30546820delT	ENSP00000221130:p.Lys300fs		C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Frame_Shift_Del	DEL	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac	p.K300fs	ENST00000221130.5	37	c.899	CCDS34877.1	8																																																																																			GSR	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,tigrfam_Glutathione_Rdtase_euk/bac	ENSG00000104687		0.478	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSR	HGNC	protein_coding	OTTHUMT00000376519.1		0.00	31	0	T			30546820	-1	tier1		no_errors	ENST00000221130	ensembl	human	known	74_37	frame_shift_del	66.67	8	16	DEL	1.000	-
GTF3C1	2975	genome.wustl.edu	37	16	27475971	27475972	+	Frame_Shift_Ins	INS	-	-	G	rs200275527	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:27475971_27475972insG	ENST00000356183.4	-	34	5556_5557	c.5541_5542insC	c.(5539-5544)cccgagfs	p.E1848fs	GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.E1848fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1848					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCTGCCCCTCGGGGGGGCTGT	0.673																																																	0																																										SO:0001589	frameshift_variant	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5542dupC	16.37:g.27475978_27475978dupG	ENSP00000348510:p.Glu1848fs		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Ins	INS	pfam_TFIIIC_Bblock-bd	p.E1847fs	ENST00000356183.4	37	c.5542_5541	CCDS32414.1	16																																																																																			GTF3C1	-	NULL	ENSG00000077235		0.673	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1		0.00	33	0	-	NM_001520		27475972	-1	tier1		no_errors	ENST00000356183	ensembl	human	known	74_37	frame_shift_ins	22.06	53	15	INS	0.012:0.000	G
GTF3C1	2975	genome.wustl.edu	37	16	27475971	27475972	+	Frame_Shift_Ins	INS	-	-	GG	rs200275527	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:27475971_27475972insGG	ENST00000356183.4	-	34	5556_5557	c.5541_5542insCC	c.(5539-5544)cccgagfs	p.E1848fs	GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.E1848fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1848					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCTGCCCCTCGGGGGGGCTGT	0.673																																																	0																																										SO:0001589	frameshift_variant	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5540_5541dupCC	16.37:g.27475976_27475977dupGG	ENSP00000348510:p.Glu1848fs		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Ins	INS	pfam_TFIIIC_Bblock-bd	p.E1847fs	ENST00000356183.4	37	c.5542_5541	CCDS32414.1	16																																																																																			GTF3C1	-	NULL	ENSG00000077235		0.673	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1		0.00	33	0	-	NM_001520		27475972	-1	tier1		no_errors	ENST00000356183	ensembl	human	known	74_37	frame_shift_ins	16.18	57	11	INS	0.012:0.000	GG
GTF3C1	2975	genome.wustl.edu	37	16	27506096	27506096	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:27506096T>A	ENST00000356183.4	-	16	2781	c.2766A>T	c.(2764-2766)caA>caT	p.Q922H	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Q922H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	922					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGTAGCTGACTTGCACAATCT	0.567																																																	0													78.0	65.0	70.0					16																	27506096		2197	4300	6497	SO:0001583	missense	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2766A>T	16.37:g.27506096T>A	ENSP00000348510:p.Gln922His		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.Q922H	ENST00000356183.4	37	c.2766	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879777	0.72294	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.25250	1.81	5.78	4.69	0.59074	.	0.339399	0.31821	N	0.007003	T	0.49201	0.1543	M	0.76574	2.34	0.40074	D	0.976057	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51371	-0.8714	10	0.56958	D	0.05	-20.3314	11.2322	0.48918	0.0:0.0717:0.0:0.9283	.	922;922	Q12789;Q12789-3	TF3C1_HUMAN;.	H	922;920	ENSP00000348510:Q922H	ENSP00000348510:Q922H	Q	-	3	2	GTF3C1	27413597	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.338000	0.43957	1.025000	0.39708	0.460000	0.39030	CAA	GTF3C1	-	NULL	ENSG00000077235		0.567	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	-	0.00	26	0	T	NM_001520		27506096	-1	tier1	-	no_errors	ENST00000356183	ensembl	human	known	74_37	missense	37.50	25	15	SNP	1.000	A
GTF3C3	9330	genome.wustl.edu	37	2	197653994	197653994	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:197653994C>T	ENST00000263956.3	-	6	916	c.827G>A	c.(826-828)cGt>cAt	p.R276H	GTF3C3_ENST00000470386.1_5'UTR|GTF3C3_ENST00000409364.3_Missense_Mutation_p.R276H	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	276					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						GTTTAAAATACGCCTATAACC	0.413																																																	0													122.0	110.0	114.0					2																	197653994		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.827G>A	2.37:g.197653994C>T	ENSP00000263956:p.Arg276His		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R276H	ENST00000263956.3	37	c.827	CCDS2316.1	2	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606021	0.66445	.	.	ENSG00000119041	ENST00000263956;ENST00000409364	T;T	0.60797	0.16;0.16	4.87	4.87	0.63330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.060552	0.64402	D	0.000013	T	0.65396	0.2687	L	0.38175	1.15	0.53005	D	0.999968	P;D	0.71674	0.656;0.998	B;P	0.59595	0.122;0.86	T	0.68743	-0.5328	10	0.66056	D	0.02	-15.3393	18.1981	0.89829	0.0:1.0:0.0:0.0	.	276;276	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	H	276	ENSP00000263956:R276H;ENSP00000386465:R276H	ENSP00000263956:R276H	R	-	2	0	GTF3C3	197362239	1.000000	0.71417	0.978000	0.43139	0.868000	0.49771	4.668000	0.61568	2.536000	0.85505	0.591000	0.81541	CGT	GTF3C3	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000119041		0.413	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	HGNC	protein_coding	OTTHUMT00000256104.1	-	0.00	45	0	C			197653994	-1	tier1	-	no_errors	ENST00000263956	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	T
GTPBP2	54676	genome.wustl.edu	37	6	43596716	43596717	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:43596716_43596717insG	ENST00000307126.5	-	1	182_183	c.183_184insC	c.(181-186)cccgagfs	p.E62fs	MAD2L1BP_ENST00000451025.2_5'Flank|GTPBP2_ENST00000476510.1_5'Flank|GTPBP2_ENST00000307114.7_5'Flank	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GTGCTCACCTCGGGGGGCAAAT	0.629																																					GBM(116;405 1620 28302 32150 44768)												0																																										SO:0001589	frameshift_variant	0			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.184dupC	6.37:g.43596722_43596722dupG	ENSP00000303997:p.Glu62fs			Frame_Shift_Ins	INS	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel	p.E61fs	ENST00000307126.5	37	c.184_183	CCDS4903.1	6																																																																																			GTPBP2	-	NULL	ENSG00000172432		0.629	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1		0.00	50	0	-			43596717	-1	tier1		no_errors	ENST00000307126	ensembl	human	known	74_37	frame_shift_ins	24.29	53	17	INS	1.000:0.961	G
GUF1	60558	genome.wustl.edu	37	4	44690095	44690095	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:44690095T>C	ENST00000281543.5	+	9	1204	c.1010T>C	c.(1009-1011)tTa>tCa	p.L337S	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GGAGATACATTATGTTTACAT	0.398																																																	0													177.0	176.0	176.0					4																	44690095		2203	4300	6503	SO:0001583	missense	0				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1010T>C	4.37:g.44690095T>C	ENSP00000281543:p.Leu337Ser			Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom	p.L337S	ENST00000281543.5	37	c.1010	CCDS3468.1	4	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518670	0.85495	.	.	ENSG00000151806	ENST00000281543	T	0.47869	0.83	5.58	5.58	0.84498	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.64402	D	0.000001	T	0.72471	0.3464	M	0.90252	3.1	0.58432	D	0.999999	D	0.67145	0.996	D	0.63957	0.92	T	0.79468	-0.1791	10	0.87932	D	0	-8.3568	14.9256	0.70875	0.0:0.0:0.0:1.0	.	337	Q8N442	GUF1_HUMAN	S	337	ENSP00000281543:L337S	ENSP00000281543:L337S	L	+	2	0	GUF1	44384852	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.687000	0.84139	2.108000	0.64289	0.528000	0.53228	TTA	GUF1	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel,tigrfam_EF-4	ENSG00000151806		0.398	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUF1	HGNC	protein_coding	OTTHUMT00000250469.3	-	0.00	59	0	T	NM_021927		44690095	+1	tier1	-	no_errors	ENST00000281543	ensembl	human	known	74_37	missense	15.12	73	13	SNP	1.000	C
GUK1	2987	genome.wustl.edu	37	1	228333720	228333720	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:228333720C>T	ENST00000366718.1	+	3	539				GUK1_ENST00000366726.1_Intron|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366721.1_Intron|GUK1_ENST00000366730.1_Intron|GUK1_ENST00000366723.1_Intron|GUK1_ENST00000366728.2_Intron|GUK1_ENST00000366722.1_Intron|GUK1_ENST00000366716.1_Intron|GUK1_ENST00000391865.3_Intron|GUK1_ENST00000312726.4_Intron	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1						ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				ACAGGTCTCTCTGCTAGATAC	0.667																																																	0													64.0	68.0	67.0					1																	228333720		2203	4300	6503	SO:0001627	intron_variant	0			BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.113-7C>T	1.37:g.228333720C>T			B1ANH1	RNA	SNP	-	NULL	ENST00000366718.1	37	NULL	CCDS1568.1	1																																																																																			GUK1	-	-	ENSG00000143774		0.667	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	GUK1	HGNC	protein_coding	OTTHUMT00000095944.1	-	0.00	45	0	C	NM_000858		228333720	+1	tier1	-	no_errors	ENST00000460224	ensembl	human	known	74_37	rna	58.57	28	41	SNP	0.011	T
GVINP1	387751	genome.wustl.edu	37	11	6741491	6741491	+	RNA	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:6741491delT	ENST00000526769.3	-	0	1713					NR_003945.1		Q7Z2Y8	GVIN1_HUMAN	GTPase, very large interferon inducible pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AATTTATCAGTTTTTTAAGTT	0.358																																																	0																																												0			BX538318		11p15.4	2014-03-18	2010-09-28	2010-09-28	ENSG00000254838	ENSG00000254838			25813	pseudogene	pseudogene	"""very large inducible GTPase 1"""		"""GTPase, very large interferon inducible 1"", ""GTPase, very large interferon inducible 1, pseudogene"""	GVIN1, GVIN1P		12874213, 19369598	Standard	NR_003945		Approved	VLIG-1, FLJ13373, VLIG1	uc001meo.4	Q7Z2Y8	OTTHUMG00000165506		11.37:g.6741491delT			A6NFL2|Q9H8N5	RNA	DEL	-	NULL	ENST00000526769.3	37	NULL		11																																																																																			GVINP1	-	-	ENSG00000254838		0.358	GVINP1-002	KNOWN	basic|exp_conf	processed_transcript	GVINP1	HGNC	pseudogene	OTTHUMT00000386960.3		0.00	15	0	T	NR_003945		6741491	-1	tier1		no_errors	ENST00000526769	ensembl	human	known	74_37	rna	16.67	20	4	DEL	0.000	-
GYS2	2998	genome.wustl.edu	37	12	21715887	21715887	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:21715887G>C	ENST00000261195.2	-	7	1281	c.1027C>G	c.(1027-1029)Cta>Gta	p.L343V		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	343					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAGGATTCTAGGAAGATGTCA	0.393																																					Colon(149;9 1820 3690 10544 50424)												0													140.0	140.0	140.0					12																	21715887		2203	4300	6503	SO:0001583	missense	0				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1027C>G	12.37:g.21715887G>C	ENSP00000261195:p.Leu343Val		A0AVD8	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1	p.L343V	ENST00000261195.2	37	c.1027	CCDS8690.1	12	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064691	0.36470	.	.	ENSG00000111713	ENST00000261195	T	0.64618	-0.11	5.11	2.11	0.27256	.	0.077530	0.52532	D	0.000077	T	0.69324	0.3098	M	0.75264	2.295	0.42859	D	0.994109	B	0.31655	0.334	P	0.46452	0.517	T	0.70651	-0.4813	10	0.62326	D	0.03	-11.7908	9.1779	0.37123	0.3161:0.0:0.6839:0.0	.	343	P54840	GYS2_HUMAN	V	343	ENSP00000261195:L343V	ENSP00000261195:L343V	L	-	1	2	GYS2	21607154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.109000	0.31135	0.749000	0.32854	0.655000	0.94253	CTA	GYS2	-	pfam_Glycogen_synth	ENSG00000111713		0.393	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS2	HGNC	protein_coding	OTTHUMT00000402396.1	-	0.00	70	0	G	NM_021957		21715887	-1	tier1	-	no_errors	ENST00000261195	ensembl	human	known	74_37	missense	47.25	48	43	SNP	0.999	C
GZF1	64412	genome.wustl.edu	37	20	23350283	23350283	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:23350283C>T	ENST00000338121.5	+	5	1767	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C	GZF1_ENST00000542987.1_Missense_Mutation_p.R73C|GZF1_ENST00000544236.1_Missense_Mutation_p.R88C|GZF1_ENST00000377051.2_Missense_Mutation_p.R564C			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	564					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CGCCCTCCAGCGCCACCGCCG	0.627																																																	0													85.0	79.0	81.0					20																	23350283		2203	4300	6503	SO:0001583	missense	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1690C>T	20.37:g.23350283C>T	ENSP00000338290:p.Arg564Cys		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R564C	ENST00000338121.5	37	c.1690	CCDS13151.1	20	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899676	0.91962	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.26660	3.16;1.72;3.16;1.72	5.95	5.95	0.96441	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.206166	0.32836	N	0.005590	T	0.55194	0.1905	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51466	-0.8702	10	0.48119	T	0.1	.	19.3594	0.94431	0.0:1.0:0.0:0.0	.	564	Q9H116	GZF1_HUMAN	C	88;564;73;564	ENSP00000445458:R88C;ENSP00000338290:R564C;ENSP00000445118:R73C;ENSP00000366250:R564C	ENSP00000338290:R564C	R	+	1	0	GZF1	23298283	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.201000	0.72124	2.822000	0.97130	0.655000	0.94253	CGC	GZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125812		0.627	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1	-	0.00	16	0	C	NM_022482		23350283	+1	tier1	-	no_errors	ENST00000338121	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	T
H2AFY	9555	genome.wustl.edu	37	5	134705060	134705060	+	Intron	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:134705060C>A	ENST00000511689.1	-	4	1071				H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000312469.4_Intron|H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000423969.2_Intron	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y						chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTACCCCATCCTATCCCACTT	0.517																																																	0													206.0	223.0	217.0					5																	134705060		2203	4300	6503	SO:0001627	intron_variant	0			AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.477+35G>T	5.37:g.134705060C>A			O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	RNA	SNP	-	NULL	ENST00000511689.1	37	NULL	CCDS4185.1	5																																																																																			H2AFY	-	-	ENSG00000113648		0.517	H2AFY-001	KNOWN	basic|CCDS	protein_coding	H2AFY	HGNC	protein_coding	OTTHUMT00000251196.3	-	0.00	37	0	C	NM_004893		134705060	-1	tier1	-	no_errors	ENST00000506532	ensembl	human	known	74_37	rna	33.85	43	22	SNP	0.000	A
HACE1	57531	genome.wustl.edu	37	6	105192413	105192413	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:105192413A>G	ENST00000262903.4	-	21	2692	c.2416T>C	c.(2416-2418)Tat>Cat	p.Y806H	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.Y591H	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	806	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCTCTTTCATAGCCACTTGTG	0.348																																																	0													96.0	95.0	95.0					6																	105192413		2203	4297	6500	SO:0001583	missense	0			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2416T>C	6.37:g.105192413A>G	ENSP00000262903:p.Tyr806His		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt	p.Y806H	ENST00000262903.4	37	c.2416	CCDS5050.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.5|22.5	4.299689|4.299689	0.81136|0.81136	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000518503;ENST00000518402|ENST00000262903;ENST00000369125	.|T;T	.|0.64438	.|-0.1;-0.1	5.93|5.93	5.93|5.93	0.95920|0.95920	.|HECT (4);	.|0.054523	.|0.85682	.|D	.|0.000000	D|D	0.82806|0.82806	0.5117|0.5117	H|H	0.96518|0.96518	3.835|3.835	0.30424|0.30424	N|N	0.777792|0.777792	.|D;D;D;D	.|0.89917	.|1.0;0.975;0.991;0.997	.|D;P;P;D	.|0.91635	.|0.999;0.89;0.9;0.925	D|D	0.84946|0.84946	0.0868|0.0868	5|10	.|0.87932	.|D	.|0	.|.	16.3766|16.3766	0.83401|0.83401	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|591;295;806;459	.|E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.|.;.;HACE1_HUMAN;.	P|H	244;196|806;591	.|ENSP00000262903:Y806H;ENSP00000358121:Y591H	.|ENSP00000262903:Y806H	L|Y	-|-	2|1	0|0	HACE1|HACE1	105299106|105299106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.734000|8.734000	0.91543|0.91543	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	CTA|TAT	HACE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000085382		0.348	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HACE1	HGNC	protein_coding	OTTHUMT00000041643.2	-	0.00	37	0	A	XM_045095		105192413	-1	tier1	-	no_errors	ENST00000262903	ensembl	human	known	74_37	missense	32.00	34	16	SNP	1.000	G
HCCS	3052	genome.wustl.edu	37	X	11135400	11135400	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:11135400A>T	ENST00000321143.4	+	4	468	c.266A>T	c.(265-267)aAt>aTt	p.N89I	HCCS_ENST00000380763.3_Missense_Mutation_p.N89I|HCCS_ENST00000380762.4_Missense_Mutation_p.N89I|Y_RNA_ENST00000384422.1_RNA	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	89					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						CCACCACCAAATCAAACACCA	0.378																																					Ovarian(86;1338 1347 1462 10340 37882)												0													130.0	123.0	126.0					X																	11135400		2203	4300	6503	SO:0001583	missense	0				CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.266A>T	X.37:g.11135400A>T	ENSP00000326579:p.Asn89Ile		B3KUS1|Q502X8	Missense_Mutation	SNP	pfam_Cyt_C/C1_haem_lyase	p.N89I	ENST00000321143.4	37	c.266	CCDS14139.1	X	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218306	0.79464	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.83163	-1.69;-1.69;-1.69	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.92146	0.7510	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93285	0.6663	10	0.66056	D	0.02	-30.3699	12.7073	0.57067	1.0:0.0:0.0:0.0	.	89	P53701	CCHL_HUMAN	I	89	ENSP00000326579:N89I;ENSP00000370140:N89I;ENSP00000370139:N89I	ENSP00000326579:N89I	N	+	2	0	HCCS	11045321	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	8.739000	0.91574	1.908000	0.55244	0.486000	0.48141	AAT	HCCS	-	pfam_Cyt_C/C1_haem_lyase	ENSG00000004961		0.378	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCCS	HGNC	protein_coding	OTTHUMT00000055742.1	-	0.00	25	0	A			11135400	+1	tier1	-	no_errors	ENST00000321143	ensembl	human	known	74_37	missense	70.83	7	17	SNP	1.000	T
HDAC4	9759	genome.wustl.edu	37	2	240002800	240002800	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:240002800G>A	ENST00000345617.3	-	22	3517	c.2726C>T	c.(2725-2727)gCg>gTg	p.A909V	HDAC4_ENST00000543185.1_Missense_Mutation_p.A493V	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	909	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCTGAAGGCCGCCAAGTACTC	0.597																																																	0													31.0	37.0	35.0					2																	240002800		2203	4300	6503	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2726C>T	2.37:g.240002800G>A	ENSP00000264606:p.Ala909Val		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.A909V	ENST00000345617.3	37	c.2726	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	g	18.49	3.635417	0.67130	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	T;T	0.71103	-0.54;-0.54	3.78	2.89	0.33648	Histone deacetylase domain (2);	0.117223	0.64402	D	0.000020	D	0.83376	0.5241	M	0.90369	3.11	0.51233	D	0.999917	D;D	0.76494	0.999;0.996	P;P	0.61592	0.891;0.754	D	0.85083	0.0947	10	0.66056	D	0.02	.	11.0832	0.48072	0.0925:0.0:0.9075:0.0	.	877;909	Q53SM2;P56524	.;HDAC4_HUMAN	V	909;797;493	ENSP00000264606:A909V;ENSP00000440481:A493V	ENSP00000264606:A909V	A	-	2	0	HDAC4	239667737	1.000000	0.71417	0.041000	0.18516	0.438000	0.31896	9.313000	0.96297	0.729000	0.32403	0.450000	0.29827	GCG	HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.597	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	-	0.00	34	0	G	NM_006037		240002800	-1	tier1	-	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	36.36	49	28	SNP	0.955	A
HDAC9	9734	genome.wustl.edu	37	7	18674336	18674336	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:18674336T>C	ENST00000432645.2	+	7	874	c.874T>C	c.(874-876)Tcg>Ccg	p.S292P	HDAC9_ENST00000401921.1_Missense_Mutation_p.S251P|HDAC9_ENST00000405010.3_Missense_Mutation_p.S292P|HDAC9_ENST00000456174.2_Missense_Mutation_p.S264P|HDAC9_ENST00000406451.4_Missense_Mutation_p.S292P|HDAC9_ENST00000524023.1_Missense_Mutation_p.S215P|HDAC9_ENST00000417496.2_Missense_Mutation_p.S290P|HDAC9_ENST00000428307.2_Missense_Mutation_p.S248P|HDAC9_ENST00000441542.2_Missense_Mutation_p.S295P|HDAC9_ENST00000406072.1_Missense_Mutation_p.S279P	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	292	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)	AAATGAGACTTCGGTTTTGCC	0.403																																																	0													86.0	84.0	84.0					7																	18674336		1864	4098	5962	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.874T>C	7.37:g.18674336T>C	ENSP00000410337:p.Ser292Pro		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.S295P	ENST00000432645.2	37	c.883	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	T	13.64	2.297260	0.40694	.	.	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	0.82;0.87;0.3;0.83;0.83;0.26;0.3;0.3;0.88;0.83	5.71	4.56	0.56223	.	0.140255	0.32952	N	0.005451	T	0.38799	0.1054	N	0.20685	0.6	0.48288	D	0.999626	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.11235	0.001;0.0;0.001;0.003;0.001;0.004;0.0;0.004;0.001;0.001;0.0;0.001;0.001;0.003	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.13407	0.001;0.0;0.003;0.004;0.001;0.009;0.0;0.006;0.0;0.002;0.0;0.0;0.0;0.005	T	0.13791	-1.0496	10	0.22109	T	0.4	-10.0753	8.882	0.35380	0.0:0.1433:0.0:0.8567	.	215;264;292;279;290;292;295;251;295;292;264;292;292;270	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	P	290;293;292;292;248;279;251;292;295;264;215;292	ENSP00000401669:S290P;ENSP00000384382:S292P;ENSP00000384657:S292P;ENSP00000395655:S248P;ENSP00000384017:S279P;ENSP00000383912:S251P;ENSP00000410337:S292P;ENSP00000408617:S295P;ENSP00000388568:S264P;ENSP00000430036:S215P	ENSP00000262069:S293P	S	+	1	0	HDAC9	18640861	0.555000	0.26530	0.973000	0.42090	0.827000	0.46813	0.576000	0.23744	1.006000	0.39211	0.528000	0.53228	TCG	HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.403	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0.00	82	0	T			18674336	+1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	missense	17.04	112	23	SNP	1.000	C
HECTD4	283450	genome.wustl.edu	37	12	112630932	112630932	+	Missense_Mutation	SNP	C	C	T	rs374889610		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:112630932C>T	ENST00000430131.2	-	57	8898	c.7753G>A	c.(7753-7755)Gtg>Atg	p.V2585M	HECTD4_ENST00000377560.5_Missense_Mutation_p.V2835M|HECTD4_ENST00000550722.1_Missense_Mutation_p.V2861M			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2585					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGGAAATTCACGTCCATGTTG	0.473																																																	0								C	MET/VAL	0,3696		0,0,1848	54.0	53.0	54.0		8503	5.4	1.0	12		54	1,8209		0,1,4104	no	missense	C12orf51	NM_001109662.2	21	0,1,5952	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	2835/4247	112630932	1,11905	1848	4105	5953	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7753G>A	12.37:g.112630932C>T	ENSP00000404379:p.Val2585Met		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.V2835M	ENST00000430131.2	37	c.8503		12	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937516	0.92458	0.0	1.22E-4	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56444	0.46;0.47;0.46	5.44	5.44	0.79542	.	.	.	.	.	T	0.63034	0.2477	L	0.27053	0.805	0.58432	D	0.999997	D	0.71674	0.998	D	0.73708	0.981	T	0.67074	-0.5762	9	0.87932	D	0	.	19.2698	0.94004	0.0:1.0:0.0:0.0	.	2585	Q9Y4D8	K0614_HUMAN	M	2835;2585;2861	ENSP00000366783:V2835M;ENSP00000404379:V2585M;ENSP00000449784:V2861M	ENSP00000366783:V2835M	V	-	1	0	C12orf51	111115315	1.000000	0.71417	0.987000	0.45799	0.793000	0.44817	5.675000	0.68123	2.556000	0.86216	0.591000	0.81541	GTG	HECTD4	-	NULL	ENSG00000173064		0.473	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0.00	49	0	C	NM_173813		112630932	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	18.75	39	9	SNP	1.000	T
HEG1	57493	genome.wustl.edu	37	3	124733606	124733606	+	Intron	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:124733606G>A	ENST00000311127.4	-	6	1656				HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1						cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGCCCATGTCGTCCGTCACGT	0.582																																																	0																																										SO:0001627	intron_variant	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1589-772C>T	3.37:g.124733606G>A			Q6NX66|Q8NC40|Q9BSV0	RNA	SNP	-	NULL	ENST00000311127.4	37	NULL	CCDS46898.1	3																																																																																			HEG1	-	-	ENSG00000173706		0.582	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	-	0.00	21	0	G	XM_087386		124733606	-1	tier1	-	no_errors	ENST00000477536	ensembl	human	putative	74_37	rna	33.33	30	15	SNP	0.000	A
HELZ2	85441	genome.wustl.edu	37	20	62193250	62193251	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:62193250_62193251insG	ENST00000467148.1	-	11	6685_6686	c.6616_6617insC	c.(6616-6618)cgtfs	p.R2206fs	HELZ2_ENST00000427522.2_Frame_Shift_Ins_p.R1637fs	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2206	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTTCTCCCCACGGGGGGGGCCT	0.649																																																	0																																										SO:0001589	frameshift_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6617dupC	20.37:g.62193258_62193258dupG	ENSP00000417401:p.Arg2206fs		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Ins	INS	superfamily_P-loop_NTPase	p.R2206fs	ENST00000467148.1	37	c.6617_6616	CCDS33508.1	20																																																																																			HELZ2	-	superfamily_P-loop_NTPase	ENSG00000130589		0.649	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1		0.00	14	0	-	NM_001037335		62193251	-1	tier1		no_errors	ENST00000467148	ensembl	human	known	74_37	frame_shift_ins	18.42	31	7	INS	0.000:0.000	G
HELZ2	85441	genome.wustl.edu	37	20	62195615	62195615	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:62195615C>T	ENST00000467148.1	-	8	4629	c.4560G>A	c.(4558-4560)gcG>gcA	p.A1520A	HELZ2_ENST00000427522.2_Silent_p.A951A	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1520					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGATGTGGGCCGCGCGGAAGC	0.647																																																	0													33.0	22.0	26.0					20																	62195615		2186	4298	6484	SO:0001819	synonymous_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4560G>A	20.37:g.62195615C>T			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	superfamily_P-loop_NTPase	p.A1520	ENST00000467148.1	37	c.4560	CCDS33508.1	20																																																																																			HELZ2	-	NULL	ENSG00000130589		0.647	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0.00	22	0	C	NM_001037335		62195615	-1	tier1	-	no_errors	ENST00000467148	ensembl	human	known	74_37	silent	36.84	48	28	SNP	0.005	T
HEPHL1	341208	genome.wustl.edu	37	11	93796775	93796775	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:93796775G>A	ENST00000315765.9	+	3	525	c.517G>A	c.(517-519)Gca>Aca	p.A173T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	173	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGAAGAATATGCACCTACTCC	0.532																																																	0													71.0	74.0	73.0					11																	93796775		1961	4160	6121	SO:0001583	missense	0			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.517G>A	11.37:g.93796775G>A	ENSP00000313699:p.Ala173Thr		Q3C1W7	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.A173T	ENST00000315765.9	37	c.517	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325991	0.81580	.	.	ENSG00000181333	ENST00000315765	D	0.98747	-5.11	5.42	4.51	0.55191	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.051039	0.85682	D	0.000000	D	0.98560	0.9519	M	0.70595	2.14	0.42896	D	0.994218	D	0.56746	0.977	P	0.62560	0.904	D	0.98742	1.0717	10	0.54805	T	0.06	.	9.9538	0.41655	0.0738:0.0:0.7804:0.1457	.	173	Q6MZM0	HPHL1_HUMAN	T	173	ENSP00000313699:A173T	ENSP00000313699:A173T	A	+	1	0	HEPHL1	93436423	1.000000	0.71417	0.197000	0.23402	0.594000	0.36715	6.279000	0.72620	1.301000	0.44836	0.655000	0.94253	GCA	HEPHL1	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin	ENSG00000181333		0.532	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2	-	0.00	38	0	G	XM_291947		93796775	+1	tier1	-	no_errors	ENST00000315765	ensembl	human	known	74_37	missense	31.76	57	27	SNP	0.999	A
HERC4	26091	genome.wustl.edu	37	10	69716603	69716603	+	Intron	DEL	A	A	-	rs78135151		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:69716603delA	ENST00000395198.3	-	18	2297				HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000395187.2_Intron|HERC4_ENST00000373700.4_Intron|HERC4_ENST00000412272.2_Intron|HERC4_ENST00000277817.6_Intron	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4						cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGAAACAATTAAAAAAAAAAA	0.328																																																	0													37.0	43.0	41.0					10																	69716603		2202	4297	6499	SO:0001627	intron_variant	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2049+31T>-	10.37:g.69716603delA			Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	RNA	DEL	-	NULL	ENST00000395198.3	37	NULL	CCDS41533.1	10																																																																																			HERC4	-	-	ENSG00000148634		0.328	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1		0.00	14	0	A	NM_015601		69716603	-1	tier1		no_errors	ENST00000480158	ensembl	human	known	74_37	rna	54.55	10	12	DEL	0.000	-
HEXDC	284004	genome.wustl.edu	37	17	80397532	80397532	+	Missense_Mutation	SNP	G	G	A	rs375964079		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:80397532G>A	ENST00000327949.9	+	8	936	c.925G>A	c.(925-927)Gag>Aag	p.E309K	HEXDC_ENST00000337014.6_Missense_Mutation_p.E309K|HEXDC_ENST00000577944.1_Missense_Mutation_p.E309K			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	309					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGTGCTGTGCGAGCTGCTGCC	0.697																																																	0								G	LYS/GLU	0,4120		0,0,2060	80.0	97.0	92.0		925	5.1	1.0	17		92	1,8409		0,1,4204	no	missense	HEXDC	NM_173620.2	56	0,1,6264	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	309/586	80397532	1,12529	2060	4205	6265	SO:0001583	missense	0			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.925G>A	17.37:g.80397532G>A	ENSP00000332634:p.Glu309Lys		B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.E309K	ENST00000327949.9	37	c.925		17	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496037	0.44352	0.0	1.19E-4	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.90504	-2.68;-2.68	5.08	5.08	0.68730	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96178	0.8754	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	D	0.96340	0.9250	10	0.51188	T	0.08	-39.3136	16.3389	0.83075	0.0:0.0:1.0:0.0	.	132;309;309	B7Z2X3;Q8WVB3;Q8WVB3-2	.;HEXDC_HUMAN;.	K	309	ENSP00000337854:E309K;ENSP00000332634:E309K	ENSP00000332634:E309K	E	+	1	0	HEXDC	77990821	1.000000	0.71417	0.998000	0.56505	0.357000	0.29423	8.889000	0.92470	2.543000	0.85770	0.462000	0.41574	GAG	HEXDC	-	superfamily_Glycoside_hydrolase_SF	ENSG00000169660		0.697	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1	-	0.00	98	0	G	NM_173620		80397532	+1	tier1	-	no_errors	ENST00000337014	ensembl	human	known	74_37	missense	50.26	95	96	SNP	1.000	A
HEXDC	284004	genome.wustl.edu	37	17	80400297	80400298	+	3'UTR	INS	-	-	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:80400297_80400298insG	ENST00000327949.9	+	0	1509_1510				HEXDC_ENST00000337014.6_Frame_Shift_Ins_p.G530fs|HEXDC_ENST00000577944.1_Frame_Shift_Ins_p.LG502fs			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing						carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGCTGGAGGCTGGGGGGGCTCT	0.693																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.*38->G	17.37:g.80400304_80400304dupG			B7UUP6|Q8IYN4|Q8TE81	Frame_Shift_Ins	INS	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.A531fs	ENST00000327949.9	37	c.1587_1588		17																																																																																			HEXDC	-	NULL	ENSG00000169660		0.693	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1		0.00	18	0	-	NM_173620		80400298	+1	tier1		no_errors	ENST00000337014	ensembl	human	known	74_37	frame_shift_ins	48.89	23	22	INS	0.001:0.000	G
HEY2	23493	genome.wustl.edu	37	6	126080617	126080617	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:126080617C>T	ENST00000368364.3	+	5	880	c.683C>T	c.(682-684)aCg>aTg	p.T228M	HEY2_ENST00000368365.1_Missense_Mutation_p.T182M	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	228					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GCTCTCCTCACGGCCACGTTT	0.642																																																	0													167.0	156.0	160.0					6																	126080617		2202	4299	6501	SO:0001583	missense	0			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.683C>T	6.37:g.126080617C>T	ENSP00000357348:p.Thr228Met			Missense_Mutation	SNP	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1	p.T228M	ENST00000368364.3	37	c.683	CCDS5131.1	6	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047154	0.75846	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.59772	0.25;0.24	5.06	5.06	0.68205	.	0.448895	0.18040	N	0.153660	T	0.43853	0.1266	L	0.34521	1.04	0.46678	D	0.999154	D	0.54047	0.964	P	0.44477	0.451	T	0.52946	-0.8507	10	0.72032	D	0.01	-19.2793	18.6224	0.91326	0.0:1.0:0.0:0.0	.	228	Q9UBP5	HEY2_HUMAN	M	182;228	ENSP00000357349:T182M;ENSP00000357348:T228M	ENSP00000357348:T228M	T	+	2	0	HEY2	126122310	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	5.435000	0.66532	2.625000	0.88918	0.561000	0.74099	ACG	HEY2	-	NULL	ENSG00000135547		0.642	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEY2	HGNC	protein_coding	OTTHUMT00000042077.1	-	0.00	17	0	C			126080617	+1	tier1	-	no_errors	ENST00000368364	ensembl	human	known	74_37	missense	50.00	16	16	SNP	1.000	T
HHIP	64399	genome.wustl.edu	37	4	145580090	145580090	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:145580090G>T	ENST00000296575.3	+	3	1276	c.621G>T	c.(619-621)gaG>gaT	p.E207D	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.E207D	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	207					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAGTGGAAGAGATCAGCAGGT	0.378																																																	0													86.0	89.0	88.0					4																	145580090		2203	4300	6503	SO:0001583	missense	0			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.621G>T	4.37:g.145580090G>T	ENSP00000296575:p.Glu207Asp		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom	p.E207D	ENST00000296575.3	37	c.621	CCDS3762.1	4	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429329	0.25726	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.46819	3.35;0.86	5.91	5.07	0.68467	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Folate receptor-like (1);	0.266540	0.42964	D	0.000623	T	0.37073	0.0990	L	0.41236	1.265	0.31865	N	0.620459	B;B	0.12630	0.002;0.006	B;B	0.14023	0.005;0.01	T	0.39522	-0.9610	10	0.13470	T	0.59	-14.0709	12.7179	0.57125	0.0:0.1259:0.743:0.131	.	207;207	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	D	207	ENSP00000296575:E207D;ENSP00000408587:E207D	ENSP00000296575:E207D	E	+	3	2	HHIP	145799540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.115000	0.31209	1.502000	0.48669	-0.189000	0.12847	GAG	HHIP	-	pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH	ENSG00000164161		0.378	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIP	HGNC	protein_coding	OTTHUMT00000364887.2	-	0.00	39	0	G			145580090	+1	tier1	-	no_errors	ENST00000296575	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	T
HIAT1	64645	genome.wustl.edu	37	1	100547662	100547662	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:100547662G>T	ENST00000370152.3	+	12	1506	c.1370G>T	c.(1369-1371)aGg>aTg	p.R457M	RP4-714D9.2_ENST00000432294.1_RNA|SASS6_ENST00000462159.1_5'Flank	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	457					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTAAGCTTAAGGTCCAGCAGT	0.493																																																	0													99.0	90.0	93.0					1																	100547662		2203	4300	6503	SO:0001583	missense	0			AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.1370G>T	1.37:g.100547662G>T	ENSP00000359171:p.Arg457Met		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.R457M	ENST00000370152.3	37	c.1370	CCDS763.1	1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791463	0.50102	.	.	ENSG00000156875	ENST00000370152	T	0.35605	1.3	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.27349	0.0671	L	0.50333	1.59	0.58432	D	0.999998	B	0.24533	0.105	B	0.24006	0.05	T	0.05068	-1.0908	10	0.62326	D	0.03	-33.0769	20.1991	0.98252	0.0:0.0:1.0:0.0	.	457	Q96MC6	HIAT1_HUMAN	M	457	ENSP00000359171:R457M	ENSP00000359171:R457M	R	+	2	0	HIAT1	100320250	1.000000	0.71417	0.991000	0.47740	0.854000	0.48673	7.876000	0.87215	2.775000	0.95449	0.650000	0.86243	AGG	HIAT1	-	NULL	ENSG00000156875		0.493	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIAT1	HGNC	protein_coding	OTTHUMT00000029657.1	-	0.00	27	0	G	NM_033055		100547662	+1	tier1	-	no_errors	ENST00000370152	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.987	T
HIST1H3I	8354	genome.wustl.edu	37	6	27839733	27839733	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:27839733T>A	ENST00000328488.2	-	1	366	c.361A>T	c.(361-363)Atg>Ttg	p.M121L		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	121					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	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)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCTTTAGGCATAATAGTGACG	0.557																																																	0													133.0	145.0	141.0					6																	27839733		2203	4300	6503	SO:0001583	missense	0			X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.361A>T	6.37:g.27839733T>A	ENSP00000329554:p.Met121Leu		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.M121L	ENST00000328488.2	37	c.361	CCDS4636.1	6	.	.	.	.	.	.	.	.	.	.	T	13.28	2.188962	0.38707	.	.	ENSG00000182572	ENST00000328488	T	0.70045	-0.45	4.12	4.12	0.48240	.	.	.	.	.	T	0.67135	0.2861	.	.	.	0.33232	D	0.55609	.	.	.	.	.	.	T	0.71699	-0.4514	6	0.87932	D	0	.	13.3331	0.60500	0.0:0.0:0.0:1.0	.	.	.	.	L	121	ENSP00000329554:M121L	ENSP00000329554:M121L	M	-	1	0	HIST1H3I	27947712	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	7.579000	0.82511	2.086000	0.62901	0.528000	0.53228	ATG	HIST1H3I	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000182572		0.557	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3I	HGNC	protein_coding	OTTHUMT00000043452.1	-	0.00	43	0	T	NM_003533		27839733	-1	tier1	-	no_errors	ENST00000328488	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	A
HIST2H2BF	440689	genome.wustl.edu	37	1	149783804	149783806	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:149783804_149783806delCTT	ENST00000369167.1	-	1	108_110	c.73_75delAAG	c.(73-75)aagdel	p.K25del	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_In_Frame_Del_p.K25del|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_In_Frame_Del_p.K25del	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	25					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TCTTGCCGTCCTTCTTCTGCACT	0.547																																																	0																																										SO:0001651	inframe_deletion	0			BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.73_75delAAG	1.37:g.149783807_149783809delCTT	ENSP00000358164:p.Lys25del		A8K0U9|B4DLA9	In_Frame_Del	DEL	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.K25in_frame_del	ENST00000369167.1	37	c.75_73	CCDS30846.1	1																																																																																			HIST2H2BF	-	superfamily_Histone-fold	ENSG00000203814		0.547	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BF	HGNC	protein_coding	OTTHUMT00000033453.2		0.00	93	0	CTT	NM_001024599		149783806	-1	tier1		no_errors	ENST00000427880	ensembl	human	known	74_37	in_frame_del	19.26	109	26	DEL	0.914:1.000:1.000	-
HLA-G	3135	genome.wustl.edu	37	6	29797635	29797635	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:29797635C>T	ENST00000360323.6	+	5	962	c.938C>T	c.(937-939)gCt>gTt	p.A313V	HLA-G_ENST00000376818.3_Missense_Mutation_p.A221V|HLA-G_ENST00000428701.1_Missense_Mutation_p.A313V|HLA-G_ENST00000376815.3_Missense_Mutation_p.A129V|HLA-G_ENST00000376828.2_Missense_Mutation_p.A318V			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	313					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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GGTATCGTTGCTGGCCTGGTT	0.597																																																	0													108.0	89.0	95.0					6																	29797635		2203	4300	6503	SO:0001583	missense	0				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.938C>T	6.37:g.29797635C>T	ENSP00000353472:p.Ala313Val			Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.A318V	ENST00000360323.6	37	c.953	CCDS4668.1	6	.	.	.	.	.	.	.	.	.	.	.	13.48	2.248758	0.39797	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818;ENST00000376815	T;T;T;T;T	0.00753	6.04;6.03;6.03;5.74;6.0	2.23	-1.17	0.09648	.	0.401307	0.17554	U	0.170072	T	0.00754	0.0025	L	0.48218	1.51	0.09310	N	1	B;B;B;D	0.71674	0.005;0.185;0.005;0.998	B;B;B;D	0.81914	0.002;0.053;0.002;0.995	T	0.53070	-0.8490	10	0.59425	D	0.04	.	5.1146	0.14827	0.0:0.4519:0.0:0.5481	.	129;318;221;313	Q29897;Q5RJ85;Q31611;P17693	.;.;.;HLAG_HUMAN	V	318;313;313;221;129	ENSP00000366024:A318V;ENSP00000412927:A313V;ENSP00000353472:A313V;ENSP00000366014:A221V;ENSP00000366011:A129V	ENSP00000353472:A313V	A	+	2	0	HLA-G	29905614	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-1.508000	0.02266	-0.337000	0.08426	0.291000	0.19559	GCT	HLA-G	-	NULL	ENSG00000204632		0.597	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-G	HGNC	protein_coding	OTTHUMT00000076286.2	-	0.00	97	0	C	NM_002127		29797635	+1	tier1	-	no_errors	ENST00000376828	ensembl	human	known	74_37	missense	31.50	87	40	SNP	0.002	T
HM13	81502	genome.wustl.edu	37	20	30142485	30142485	+	Intron	DEL	A	A	-	rs375749810		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:30142485delA	ENST00000340852.5	+	8	848				HM13_ENST00000335574.5_Intron|HM13_ENST00000492709.1_Intron|HM13_ENST00000398174.3_Intron|HM13_ENST00000376127.3_Intron	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13						membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			actccgtctcaaaaaaaaaaa	0.552																																																	0																																										SO:0001627	intron_variant	0			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.725-64A>-	20.37:g.30142485delA			B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	RNA	DEL	-	NULL	ENST00000340852.5	37	NULL	CCDS13182.1	20																																																																																			HM13	-	-	ENSG00000101294		0.552	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	HM13	HGNC	protein_coding	OTTHUMT00000078527.2		0.00	11	0	A	NM_178580		30142485	+1	tier1		no_errors	ENST00000474466	ensembl	human	known	74_37	rna	30.00	35	15	DEL	0.172	-
HMGN2P46	283651	genome.wustl.edu	37	15	45848231	45848233	+	lincRNA	DEL	TTT	TTT	-	rs372861121|rs368577527		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:45848231_45848233delTTT	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TTTGTTTAGCTTTTTTTTTTTTT	0.325																																																	0																																												0																															15.37:g.45848240_45848242delTTT				RNA	DEL	-	NULL	ENST00000557965.1	37	NULL		15																																																																																			HMGN2P46	-	-	ENSG00000179362		0.325	RP11-96O20.2-001	KNOWN	basic	lincRNA	HMGN2P46	HGNC	lincRNA	OTTHUMT00000416553.1		0.00	18	0	TTT			45848233	+1	tier1		no_errors	ENST00000313559	ensembl	human	known	74_37	rna	36.36	14	8	DEL	0.997:0.996:0.997	-
HMMR	3161	genome.wustl.edu	37	5	162917426	162917426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:162917426delA	ENST00000358715.3	+	17	2026	c.1990delA	c.(1990-1992)aaafs	p.K666fs	RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Frame_Shift_Del_p.K651fs|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Frame_Shift_Del_p.K580fs|HMMR_ENST00000393915.4_Frame_Shift_Del_p.K667fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	666	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TCAGCTTGCTAAAAAAAAACA	0.308																																																	0									,,,	16,16,4226		0,0,16,1,14,2098	55.0	58.0	57.0		,,,	-1.0	1.0	5		57	16,27,8209		0,0,16,5,17,4088	no	codingComplex,codingComplex,codingComplex,codingComplex	HMMR	NM_012485.2,NM_012484.2,NM_001142557.1,NM_001142556.1	,,,	0,0,32,6,31,6186	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5211,0.7515,0.5995	,,,	,,,	162917426	32,43,12435	2201	4299	6500	SO:0001589	frameshift_variant	0			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1990delA	5.37:g.162917426delA	ENSP00000351554:p.Lys666fs		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Del	DEL	NULL	p.K667fs	ENST00000358715.3	37	c.1993	CCDS4362.1	5																																																																																			HMMR	-	NULL	ENSG00000072571		0.308	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1		0.00	25	0	A	NM_012484		162917426	+1	tier1		no_errors	ENST00000393915	ensembl	human	known	74_37	frame_shift_del	24.00	19	6	DEL	1.000	-
HNF4G	3174	genome.wustl.edu	37	8	76459907	76459907	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:76459907delA	ENST00000354370.1	+	4	502	c.232delA	c.(232-234)aaafs	p.K79fs	HNF4G_ENST00000396423.2_Frame_Shift_Del_p.K116fs			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	79					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGCGGGAATGAAAAAAGAAGG	0.294																																																	0													100.0	104.0	102.0					8																	76459907		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.232delA	8.37:g.76459907delA	ENSP00000346339:p.Lys79fs		Q7Z2V9|Q9UH81|Q9UIS6	Frame_Shift_Del	DEL	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.E117fs	ENST00000354370.1	37	c.343		8																																																																																			HNF4G	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	ENSG00000164749		0.294	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	HNF4G	HGNC	protein_coding	OTTHUMT00000313914.2		0.00	60	0	A	NM_004133		76459907	+1	tier1		no_errors	ENST00000396423	ensembl	human	known	74_37	frame_shift_del	32.22	61	29	DEL	1.000	-
HNRNPA1P48	642659	genome.wustl.edu	37	16	51679811	51679811	+	RNA	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:51679811A>G	ENST00000562726.1	+	0	145					NR_002944.2|NR_003277.1				heterogeneous nuclear ribonucleoprotein A1 pseudogene 48																		ACAACTGATGAGAGCCTGAGG	0.512																																																	0																																												0					16q12.1	2013-06-13			ENSG00000224578	ENSG00000224578			48778	pseudogene	pseudogene							Standard	NG_005530		Approved				OTTHUMG00000173250		16.37:g.51679811A>G				RNA	SNP	-	NULL	ENST00000562726.1	37	NULL		16																																																																																			HNRNPA1P48	-	-	ENSG00000224578		0.512	HNRNPA1P48-002	KNOWN	basic	processed_transcript	HNRNPA1P48	HGNC	pseudogene	OTTHUMT00000422613.1	-	0.00	28	0	A			51679811	+1	tier1	-	no_errors	ENST00000562726	ensembl	human	known	74_37	rna	31.25	21	10	SNP	1.000	G
HNRNPA1P48	642659	genome.wustl.edu	37	16	51680669	51680670	+	RNA	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:51680669_51680670insT	ENST00000562726.1	+	0	1003_1004					NR_002944.2|NR_003277.1				heterogeneous nuclear ribonucleoprotein A1 pseudogene 48																		AGCAGTAGCTATGGCAGTGGCA	0.5																																																	0																																												0					16q12.1	2013-06-13			ENSG00000224578	ENSG00000224578			48778	pseudogene	pseudogene							Standard	NG_005530		Approved				OTTHUMG00000173250		16.37:g.51680670_51680670dupT				RNA	INS	-	NULL	ENST00000562726.1	37	NULL		16																																																																																			HNRNPA1P48	-	-	ENSG00000224578		0.500	HNRNPA1P48-002	KNOWN	basic	processed_transcript	HNRNPA1P48	HGNC	pseudogene	OTTHUMT00000422613.1		0.00	13	0	-			51680670	+1	tier1		no_errors	ENST00000562726	ensembl	human	known	74_37	rna	45.24	23	19	INS	1.000:1.000	T
HNRNPK	3190	genome.wustl.edu	37	9	86586596	86586596	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:86586596G>A	ENST00000376264.2	-	12	1257	c.999C>T	c.(997-999)taC>taT	p.Y333Y	RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376263.3_Silent_p.Y333Y|HNRNPK_ENST00000376281.4_Silent_p.Y333Y|HNRNPK_ENST00000351839.3_Silent_p.Y333Y|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000360384.5_Silent_p.Y333Y	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	333	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCATGCCGTCGTAACGGTCTC	0.418																																																	0													206.0	186.0	193.0					9																	86586596		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.999C>T	9.37:g.86586596G>A			Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Silent	SNP	pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1	p.Y333	ENST00000376264.2	37	c.999	CCDS6667.1	9																																																																																			HNRNPK	-	NULL	ENSG00000165119		0.418	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	HGNC	protein_coding	OTTHUMT00000052846.2	-	0.00	59	0	G			86586596	-1	tier1	-	no_errors	ENST00000376263	ensembl	human	known	74_37	silent	51.79	26	29	SNP	0.647	A
HOXA9	3205	genome.wustl.edu	37	7	27202966	27202966	+	3'UTR	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:27202966delC	ENST00000343483.6	-	0	1147				HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000465941.1_5'Flank	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9						endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						AGCACTAATGCCCCCCCCTCA	0.393			T	"""NUP98, MSI2"""	AML*																																			Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.*256G>-	7.37:g.27202966delC			O43369|O43429|Q99820	RNA	DEL	-	NULL	ENST00000343483.6	37	NULL	CCDS5409.1	7																																																																																			HOXA9	-	-	ENSG00000078399		0.393	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA9	HGNC	protein_coding	OTTHUMT00000358706.2		0.00	20	0	C			27202966	-1	tier1		no_errors	ENST00000487384	ensembl	human	known	74_37	rna	28.12	23	9	DEL	0.997	-
HOXB3	3213	genome.wustl.edu	37	17	46628044	46628044	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:46628044G>A	ENST00000470495.1	-	2	2395	c.948C>T	c.(946-948)ggC>ggT	p.G316G	HOXB3_ENST00000311626.4_Silent_p.G316G|HOXB3_ENST00000498678.1_Silent_p.G316G|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_Silent_p.G184G|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Silent_p.G243G|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Silent_p.G182G|HOXB3_ENST00000476342.1_Silent_p.G316G|HOXB3_ENST00000460160.1_Silent_p.G184G|HOXB3_ENST00000489475.1_Silent_p.G243G			P14651	HXB3_HUMAN	homeobox B3	316					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTGCGGGGCGCCGCAGCCTT	0.697											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													37.0	47.0	44.0					17																	46628044		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.948C>T	17.37:g.46628044G>A		940	A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G316	ENST00000470495.1	37	c.948	CCDS11528.1	17																																																																																			HOXB3	-	NULL	ENSG00000120093		0.697	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB3	HGNC	protein_coding	OTTHUMT00000358261.1	-	0.00	37	0	G			46628044	-1	tier1	-	no_errors	ENST00000311626	ensembl	human	known	74_37	silent	26.87	49	18	SNP	0.998	A
HPX	3263	genome.wustl.edu	37	11	6461701	6461701	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:6461701delA	ENST00000265983.3	-	3	310	c.210delT	c.(208-210)tttfs	p.F70fs	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	70					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TCCTACCTTTAAAAAACAGCA	0.488																																																	0													117.0	113.0	115.0					11																	6461701		2201	4296	6497	SO:0001589	frameshift_variant	0			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.210delT	11.37:g.6461701delA	ENSP00000265983:p.Phe70fs		B2R957	Frame_Shift_Del	DEL	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	p.F70fs	ENST00000265983.3	37	c.210	CCDS7763.1	11																																																																																			HPX	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	ENSG00000110169		0.488	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1		0.00	26	0	A	NM_000613		6461701	-1	tier1		no_errors	ENST00000265983	ensembl	human	known	74_37	frame_shift_del	52.94	16	18	DEL	0.998	-
HRNR	388697	genome.wustl.edu	37	1	152187979	152187979	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:152187979G>A	ENST00000368801.2	-	3	6201	c.6126C>T	c.(6124-6126)caC>caT	p.H2042H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2042					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGCTGACCGTGGCTGGAAG	0.592																																																	0													76.0	107.0	96.0					1																	152187979		1516	3106	4622	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6126C>T	1.37:g.152187979G>A			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.H2042	ENST00000368801.2	37	c.6126	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0.00	107	0	G	XM_373868		152187979	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	14.29	102	17	SNP	0.000	A
HSD11B1	3290	genome.wustl.edu	37	1	209880402	209880402	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:209880402delT	ENST00000367028.2	+	5	615	c.446delT	c.(445-447)gtcfs	p.V149fs	HSD11B1_ENST00000367027.3_Frame_Shift_Del_p.V149fs|HSD11B1_ENST00000261465.1_Frame_Shift_Del_p.V149fs|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	149					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	AGTTACGTGGTCCTGACTGTA	0.473																																																	0													162.0	139.0	147.0					1																	209880402		2203	4300	6503	SO:0001589	frameshift_variant	0			BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.446delT	1.37:g.209880402delT	ENSP00000355995:p.Val149fs		B2R9Z1|D3DT89	Frame_Shift_Del	DEL	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.V149fs	ENST00000367028.2	37	c.446	CCDS1489.1	1																																																																																			HSD11B1	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000117594		0.473	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B1	HGNC	protein_coding	OTTHUMT00000088743.2		0.00	20	0	T	NM_005525		209880402	+1	tier1		no_errors	ENST00000261465	ensembl	human	known	74_37	frame_shift_del	30.00	14	6	DEL	0.998	-
HSP90B1	7184	genome.wustl.edu	37	12	104341424	104341424	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:104341424delA	ENST00000299767.5	+	18	2578	c.2396delA	c.(2395-2397)gaafs	p.E799fs	C12orf73_ENST00000543740.2_5'Flank	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	799					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TCTACAGCTGAAAAAGATGAA	0.323																																																	0													62.0	64.0	63.0					12																	104341424		2203	4300	6503	SO:0001589	frameshift_variant	0			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2396delA	12.37:g.104341424delA	ENSP00000299767:p.Glu799fs		Q96A97	Frame_Shift_Del	DEL	pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N	p.D801fs	ENST00000299767.5	37	c.2396	CCDS9094.1	12																																																																																			HSP90B1	-	NULL	ENSG00000166598		0.323	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90B1	HGNC	protein_coding	OTTHUMT00000407349.1		0.00	50	0	A	NM_003299		104341424	+1	tier1		no_errors	ENST00000299767	ensembl	human	known	74_37	frame_shift_del	52.54	28	31	DEL	0.998	-
HSPA12A	259217	genome.wustl.edu	37	10	118464786	118464786	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:118464786C>T	ENST00000369209.3	-	3	234	c.130G>A	c.(130-132)Gac>Aac	p.D44N		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	44						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)		GAGTCAGTGTCGTTCTGCAGA	0.577																																																	0													165.0	176.0	172.0					10																	118464786		2143	4269	6412	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.130G>A	10.37:g.118464786C>T	ENSP00000358211:p.Asp44Asn			Missense_Mutation	SNP	NULL	p.D44N	ENST00000369209.3	37	c.130	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133369	0.77662	.	.	ENSG00000165868	ENST00000369209	T	0.43294	0.95	5.93	5.93	0.95920	.	0.132495	0.64402	D	0.000003	T	0.38904	0.1058	L	0.44542	1.39	0.80722	D	1	B	0.21381	0.055	B	0.17979	0.02	T	0.15896	-1.0421	10	0.17369	T	0.5	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	44	O43301	HS12A_HUMAN	N	44	ENSP00000358211:D44N	ENSP00000358211:D44N	D	-	1	0	HSPA12A	118454776	1.000000	0.71417	0.502000	0.27614	0.598000	0.36846	5.847000	0.69451	2.808000	0.96608	0.655000	0.94253	GAC	HSPA12A	-	NULL	ENSG00000165868		0.577	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	-	0.00	39	0	C	NM_025015		118464786	-1	tier1	-	no_errors	ENST00000369209	ensembl	human	known	74_37	missense	34.04	62	32	SNP	1.000	T
HSPA6	3310	genome.wustl.edu	37	1	161496162	161496162	+	Missense_Mutation	SNP	A	A	G	rs452004		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:161496162A>G	ENST00000309758.4	+	1	2127	c.1714A>G	c.(1714-1716)Atg>Gtg	p.M572V	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	572			M -> V (in dbSNP:rs452004).		ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGGCGCAAAATGCAAGACAA	0.532													A|||	1	0.000199681	0.0	0.0	5008	,	,		21702	0.001		0.0	False		,,,				2504	0.0																0													34.0	32.0	33.0					1																	161496162		2203	4300	6503	SO:0001583	missense	0				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1714A>G	1.37:g.161496162A>G	ENSP00000310219:p.Met572Val		Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.M572V	ENST00000309758.4	37	c.1714	CCDS1231.1	1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.279385	0.00254	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.10382	2.88	3.28	1.39	0.22231	.	0.376647	0.15137	N	0.278513	T	0.00468	0.0015	N	0.00093	-2.17	0.19945	N	0.999948	B	0.02656	0.0	B	0.01281	0.0	T	0.43507	-0.9387	10	0.13470	T	0.59	.	5.5477	0.17073	0.3746:0.0:0.6254:0.0	rs452004;rs60763008	572	P17066	HSP76_HUMAN	V	572;548	ENSP00000310219:M572V	ENSP00000310219:M572V	M	+	1	0	HSPA6	159762786	0.838000	0.29461	0.046000	0.18839	0.358000	0.29455	1.628000	0.37060	0.121000	0.18284	-0.220000	0.12472	ATG	HSPA6	-	pfam_Hsp_70_fam	ENSG00000173110		0.532	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	HGNC	protein_coding	OTTHUMT00000083308.1		0.00	44	0	A	NM_002155		161496162	+1			no_errors	ENST00000309758	ensembl	human	known	74_37	missense	6.58	71	5	SNP	0.562	G
HTR1B	3351	genome.wustl.edu	37	6	78172236	78172236	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:78172236G>A	ENST00000369947.2	-	1	1254	c.885C>T	c.(883-885)tcC>tcT	p.S295S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	295					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCAGGGCGTCGGAGACTCGCA	0.552																																																	0													157.0	168.0	164.0					6																	78172236		2203	4300	6503	SO:0001819	synonymous_variant	0			BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.885C>T	6.37:g.78172236G>A			Q4VAY7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam	p.S295	ENST00000369947.2	37	c.885	CCDS4986.1	6																																																																																			HTR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1B_rcpt	ENSG00000135312		0.552	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1B	HGNC	protein_coding	OTTHUMT00000041292.1	-	0.00	23	0	G	NM_000863		78172236	-1	tier1	-	no_errors	ENST00000369947	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.938	A
HTR1E	3354	genome.wustl.edu	37	6	87726135	87726135	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:87726135C>T	ENST00000305344.5	+	2	1786	c.1083C>T	c.(1081-1083)tgC>tgT	p.C361C		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	361					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCATTAGATGCCGAGAGCATA	0.413																																																	0													49.0	52.0	51.0					6																	87726135		2171	4294	6465	SO:0001819	synonymous_variant	0				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.1083C>T	6.37:g.87726135C>T			E1P503|Q9P1Y1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.C361	ENST00000305344.5	37	c.1083	CCDS5006.1	6																																																																																			HTR1E	-	NULL	ENSG00000168830		0.413	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2	-	0.00	64	0	C	NM_000865		87726135	+1	tier1	-	no_errors	ENST00000305344	ensembl	human	known	74_37	silent	40.62	38	26	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53576405	53576405	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:53576405C>T	ENST00000342160.3	-	66	10007	c.9550G>A	c.(9550-9552)Gaa>Aaa	p.E3184K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E3184K|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3184					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAAAGGGCTTCGTGGTCCAGA	0.502																																																	0													46.0	47.0	47.0					X																	53576405		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9550G>A	X.37:g.53576405C>T	ENSP00000340648:p.Glu3184Lys		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E3184K	ENST00000342160.3	37	c.9550	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.59|18.59	3.656566|3.656566	0.67586|0.67586	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.48522|.	0.81;0.81|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.193573|.	0.42682|.	D|.	0.000671|.	T|T	0.73938|0.73938	0.3651|0.3651	M|M	0.68317|0.68317	2.08|2.08	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.65815|.	0.992;0.995|.	P;D|.	0.68192|.	0.905;0.956|.	T|T	0.73040|0.73040	-0.4108|-0.4108	10|5	0.54805|.	T|.	0.06|.	.|.	17.3491|17.3491	0.87318|0.87318	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3184;3168|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	K|Q	3184|2217;21	ENSP00000340648:E3184K;ENSP00000262854:E3184K|.	ENSP00000262854:E3184K|.	E|R	-|-	1|2	0|0	HUWE1|HUWE1	53593130|53593130	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.961000|0.961000	0.63080|0.63080	6.816000|6.816000	0.75247|0.75247	2.363000|2.363000	0.80096|0.80096	0.600000|0.600000	0.82982|0.82982	GAA|CGA	HUWE1	-	NULL	ENSG00000086758		0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0.00	19	0	C	XM_497119		53576405	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	57.14	9	12	SNP	1.000	T
HYAL3	8372	genome.wustl.edu	37	3	50332292	50332292	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:50332292G>A	ENST00000336307.1	-	2	1014	c.742C>T	c.(742-744)Cca>Tca	p.P248S	HYAL3_ENST00000450982.1_Missense_Mutation_p.P248S|IFRD2_ENST00000417626.2_5'Flank|HYAL3_ENST00000359051.3_Missense_Mutation_p.P248S|IFRD2_ENST00000429673.2_5'Flank|HYAL3_ENST00000513170.1_Intron|IFRD2_ENST00000484043.1_5'Flank|HYAL3_ENST00000415204.1_Intron|IFRD2_ENST00000336089.4_5'Flank|IFRD2_ENST00000436390.1_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	248					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGCCTGGGTGGGAGGTAGATG	0.652																																																	0													62.0	62.0	62.0					3																	50332292		2203	4300	6503	SO:0001583	missense	0			AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.742C>T	3.37:g.50332292G>A	ENSP00000337425:p.Pro248Ser		O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.P248S	ENST00000336307.1	37	c.742	CCDS2815.1	3	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892255	0.52014	.	.	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000450982	T;T;T	0.21191	2.02;2.02;2.02	5.26	4.39	0.52855	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.461259	0.22002	U	0.065988	T	0.33294	0.0858	L	0.49126	1.545	0.28577	N	0.910343	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.11941	-1.0567	10	0.16896	T	0.51	-7.3315	7.4411	0.27183	0.0902:0.1686:0.7412:0.0	.	248;248	O43820;O43820-2	HYAL3_HUMAN;.	S	248	ENSP00000351946:P248S;ENSP00000337425:P248S;ENSP00000391922:P248S	ENSP00000337425:P248S	P	-	1	0	HYAL3	50307296	0.291000	0.24352	0.997000	0.53966	0.806000	0.45545	1.445000	0.35079	1.224000	0.43551	0.563000	0.77884	CCA	HYAL3	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase	ENSG00000186792		0.652	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	HYAL3	HGNC	protein_coding	OTTHUMT00000346664.1	-	0.00	52	0	G	NM_003549		50332292	-1	tier1	-	no_errors	ENST00000336307	ensembl	human	known	74_37	missense	36.36	56	32	SNP	0.944	A
IARS	3376	genome.wustl.edu	37	9	95002935	95002935	+	Intron	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:95002935delA	ENST00000375643.3	-	30	3550				IARS_ENST00000443024.2_Intron|IARS_ENST00000447699.2_Intron|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000375627.1_Frame_Shift_Del_p.W161fs|IARS_ENST00000375629.3_Frame_Shift_Del_p.W161fs	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	cttggcttccaaaagtggtag	0.363																																																	0																																										SO:0001627	intron_variant	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3283+202T>-	9.37:g.95002935delA			A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Frame_Shift_Del	DEL	NULL	p.W161fs	ENST00000375643.3	37	c.481	CCDS6694.1	9																																																																																			IARS	-	NULL	ENSG00000196305		0.363	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2		0.00	13	0	A	NM_002161		95002935	-1	tier1		no_errors	ENST00000375627	ensembl	human	known	74_37	frame_shift_del	25.00	15	5	DEL	0.046	-
ICAM5	7087	genome.wustl.edu	37	19	10403406	10403406	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:10403406G>A	ENST00000221980.4	+	5	1143	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	360	Ig-like C2-type 4.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TTCCAGCCGCGGTCCCGGGGC	0.657																																																	0													40.0	41.0	41.0					19																	10403406		2203	4300	6503	SO:0001819	synonymous_variant	0			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1080G>A	19.37:g.10403406G>A			Q9Y6F3	Silent	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.A360	ENST00000221980.4	37	c.1080	CCDS12233.1	19																																																																																			ICAM5	-	smart_Ig_sub	ENSG00000105376		0.657	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	-	0.00	17	0	G	NM_003259		10403406	+1	tier1	-	no_errors	ENST00000221980	ensembl	human	known	74_37	silent	41.51	31	22	SNP	0.000	A
IFI44	10561	genome.wustl.edu	37	1	79129487	79129487	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:79129487delA	ENST00000370747.4	+	9	1411	c.1326delA	c.(1324-1326)ggafs	p.G442fs	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	442					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GTGCACAAGGAAAAAAATAGA	0.358																																																	0													115.0	107.0	110.0					1																	79129487		2203	4300	6503	SO:0001589	frameshift_variant	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.1326delA	1.37:g.79129487delA	ENSP00000359783:p.Gly442fs		B7ZAG3|D3DQ80|Q14496	Frame_Shift_Del	DEL	pfam_TLDc,superfamily_P-loop_NTPase	p.K444fs	ENST00000370747.4	37	c.1326	CCDS688.1	1																																																																																			IFI44	-	NULL	ENSG00000137965		0.358	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1		0.00	45	0	A	NM_006417		79129487	+1	tier1		no_errors	ENST00000370747	ensembl	human	known	74_37	frame_shift_del	31.67	41	19	DEL	0.000	-
IFIT5	24138	genome.wustl.edu	37	10	91177806	91177806	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:91177806T>C	ENST00000371795.4	+	2	1063	c.850T>C	c.(850-852)Ttc>Ctc	p.F284L	IFIT5_ENST00000416601.1_Missense_Mutation_p.F236L	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	284					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						AACTTCTTCTTTCCTGCATCA	0.428																																																	0													81.0	85.0	84.0					10																	91177806		2202	4300	6502	SO:0001583	missense	0			U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.850T>C	10.37:g.91177806T>C	ENSP00000360860:p.Phe284Leu		B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F284L	ENST00000371795.4	37	c.850	CCDS7403.1	10	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497201	0.64186	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.52526	0.66;0.66	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);	0.157727	0.56097	D	0.000023	T	0.49150	0.1540	L	0.54965	1.715	0.35318	D	0.784482	D;D	0.58620	0.983;0.983	P;P	0.51016	0.656;0.656	T	0.54662	-0.8260	10	0.09843	T	0.71	-10.8313	12.4685	0.55773	0.0:0.0:0.1392:0.8608	.	284;236	Q13325;B4DDV1	IFIT5_HUMAN;.	L	284;236	ENSP00000360860:F284L;ENSP00000414042:F236L	ENSP00000360860:F284L	F	+	1	0	IFIT5	91167786	0.932000	0.31603	1.000000	0.80357	0.994000	0.84299	1.726000	0.38085	2.218000	0.71995	0.533000	0.62120	TTC	IFIT5	-	NULL	ENSG00000152778		0.428	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT5	HGNC	protein_coding	OTTHUMT00000049303.1	-	0.00	21	0	T	NM_012420		91177806	+1	tier1	-	no_errors	ENST00000371795	ensembl	human	known	74_37	missense	39.47	23	15	SNP	1.000	C
IFT140	9742	genome.wustl.edu	37	16	1634250	1634250	+	Missense_Mutation	SNP	C	C	T	rs538562131		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:1634250C>T	ENST00000426508.2	-	11	1690	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	443					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ATGTGCATGTCGGTGCGCAGG	0.617																																																	0													46.0	38.0	41.0					16																	1634250		2199	4300	6499	SO:0001583	missense	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1327G>A	16.37:g.1634250C>T	ENSP00000406012:p.Asp443Asn		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D443N	ENST00000426508.2	37	c.1327	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843969	0.32606	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.61158	0.13	5.51	4.56	0.56223	.	0.099620	0.64402	N	0.000002	T	0.72787	0.3504	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.61800	0.747;0.894	T	0.76780	-0.2833	10	0.62326	D	0.03	.	13.5045	0.61477	0.0:0.9248:0.0:0.0752	.	443;168	Q96RY7;B4DR58	IF140_HUMAN;.	N	443	ENSP00000406012:D443N	ENSP00000380562:D443N	D	-	1	0	IFT140	1574251	1.000000	0.71417	0.856000	0.33681	0.013000	0.08279	4.559000	0.60796	1.462000	0.47948	0.655000	0.94253	GAC	IFT140	-	NULL	ENSG00000187535		0.617	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2		0.00	18	0	C	NM_014714		1634250	-1			no_errors	ENST00000426508	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.999	T
IGDCC3	9543	genome.wustl.edu	37	15	65628266	65628266	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:65628266C>A	ENST00000327987.4	-	3	689	c.438G>T	c.(436-438)caG>caT	p.Q146H	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	146	Ig-like C2-type 2.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCACGGTGGCCTGGGGATGCA	0.592																																																	0													91.0	80.0	84.0					15																	65628266		2201	4299	6500	SO:0001583	missense	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.438G>T	15.37:g.65628266C>A	ENSP00000332773:p.Gln146His		O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q146H	ENST00000327987.4	37	c.438	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608870	0.66558	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.68181	-0.31	5.06	2.85	0.33270	Immunoglobulin I-set (1);	0.148138	0.46758	D	0.000261	T	0.71459	0.3342	L	0.48642	1.525	0.44061	D	0.996809	D	0.65815	0.995	D	0.68483	0.958	T	0.69320	-0.5176	10	0.62326	D	0.03	-20.7366	7.1768	0.25749	0.0:0.5727:0.0:0.4273	.	146	Q8IVU1	IGDC3_HUMAN	H	146;9	ENSP00000332773:Q146H	ENSP00000332773:Q146H	Q	-	3	2	IGDCC3	63415319	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	1.426000	0.34870	0.455000	0.26910	0.655000	0.94253	CAG	IGDCC3	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000174498		0.592	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	-	0.00	40	0	C	NM_004884		65628266	-1	tier1	-	no_errors	ENST00000327987	ensembl	human	known	74_37	missense	68.92	23	51	SNP	0.999	A
IGDCC4	57722	genome.wustl.edu	37	15	65702608	65702608	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:65702608G>A	ENST00000352385.2	-	3	680	c.471C>T	c.(469-471)aaC>aaT	p.N157N		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	157	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GAGCTGTCCCGTTCTCCTCCA	0.577																																																	0													82.0	71.0	75.0					15																	65702608		2201	4299	6500	SO:0001819	synonymous_variant	0				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.471C>T	15.37:g.65702608G>A			Q9HCE4	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N157	ENST00000352385.2	37	c.471	CCDS10206.1	15																																																																																			IGDCC4	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000103742		0.577	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	-	0.00	30	0	G	NM_020962		65702608	-1	tier1	-	no_errors	ENST00000352385	ensembl	human	novel	74_37	silent	78.38	8	29	SNP	0.011	A
IL2RG	3561	genome.wustl.edu	37	X	70330527	70330527	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:70330527G>A	ENST00000374202.2	-	3	372	c.281C>T	c.(280-282)tCg>tTg	p.S94L	IL2RG_ENST00000456850.2_Intron|IL2RG_ENST00000374188.3_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	94					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	ATCATTATCCGAGTTCTTGTA	0.468									Severe Combined Immunodeficiency, X-linked																																								0													65.0	57.0	60.0					X																	70330527		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Agammaglobulinemia, Swiss Type	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.281C>T	X.37:g.70330527G>A	ENSP00000363318:p.Ser94Leu		Q5FC12	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S94L	ENST00000374202.2	37	c.281	CCDS14406.1	X	.	.	.	.	.	.	.	.	.	.	G	0.830	-0.745513	0.03065	.	.	ENSG00000147168	ENST00000374202;ENST00000374191;ENST00000464642;ENST00000487883;ENST00000473378	D;D;D;D	0.95980	-3.87;-3.87;-1.53;-1.53	4.86	0.403	0.16350	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.651720	0.03233	N	0.179213	D	0.89795	0.6818	L	0.45581	1.43	0.09310	N	1	D	0.54047	0.964	B	0.32724	0.151	T	0.81867	-0.0735	10	0.16896	T	0.51	-14.136	4.4057	0.11407	0.3314:0.1603:0.5083:0.0	.	94	P31785	IL2RG_HUMAN	L	94;94;50;82;73	ENSP00000363318:S94L;ENSP00000425233:S50L;ENSP00000423966:S82L;ENSP00000423601:S73L	ENSP00000363306:S94L	S	-	2	0	IL2RG	70247252	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.795000	0.26972	0.022000	0.15160	-0.380000	0.06706	TCG	IL2RG	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	ENSG00000147168		0.468	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RG	HGNC	protein_coding	OTTHUMT00000057102.2	-	0.00	22	0	G			70330527	-1	tier1	-	no_errors	ENST00000374202	ensembl	human	known	74_37	missense	68.00	8	17	SNP	0.000	A
IL34	146433	genome.wustl.edu	37	16	70690943	70690943	+	Silent	SNP	C	C	T	rs368553371	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:70690943C>T	ENST00000288098.2	+	4	704	c.321C>T	c.(319-321)gaC>gaT	p.D107D	IL34_ENST00000566361.1_Silent_p.D82D|IL34_ENST00000429149.2_Silent_p.D107D	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	107					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						CGGTGCAGGACGTGCTGCTCG	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		20315	0.0		0.0	False		,,,				2504	0.002																0								C	,,	1,4395	2.1+/-5.4	0,1,2197	124.0	104.0	111.0		318,321,321	-10.4	0.2	16		111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	,,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,,	106/242,107/243,107/243	70690943	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.321C>T	16.37:g.70690943C>T			B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Silent	SNP	prints_IL-34	p.D107	ENST00000288098.2	37	c.321	CCDS10895.1	16																																																																																			IL34	-	prints_IL-34	ENSG00000157368		0.627	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL34	HGNC	protein_coding	OTTHUMT00000268971.3	-	0.00	34	0	C	NM_152456		70690943	+1	tier1	-	no_errors	ENST00000288098	ensembl	human	known	74_37	silent	33.33	44	22	SNP	0.103	T
IL36G	56300	genome.wustl.edu	37	2	113742537	113742537	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:113742537G>T	ENST00000259205.4	+	5	490	c.421G>T	c.(421-423)Gcc>Tcc	p.A141S	IL36G_ENST00000376489.2_Missense_Mutation_p.A106S	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	141					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CTGGTTCATTGCCTCCTCCAA	0.502																																																	0													105.0	93.0	97.0					2																	113742537		2203	4300	6503	SO:0001583	missense	0			AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.421G>T	2.37:g.113742537G>T	ENSP00000259205:p.Ala141Ser		Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1	p.A141S	ENST00000259205.4	37	c.421	CCDS2108.1	2	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693614	0.30052	.	.	ENSG00000136688	ENST00000376489;ENST00000259205	T;T	0.21543	2.0;2.0	4.39	3.43	0.39272	.	0.365960	0.23389	N	0.048715	T	0.23886	0.0578	L	0.45422	1.42	0.09310	N	1	D;P	0.69078	0.997;0.927	P;P	0.58520	0.84;0.759	T	0.11275	-1.0594	10	0.02654	T	1	-31.2199	9.0165	0.36173	0.0:0.0:0.78:0.22	.	106;141	Q9NZH8-2;Q9NZH8	.;IL36G_HUMAN	S	106;141	ENSP00000365672:A106S;ENSP00000259205:A141S	ENSP00000259205:A141S	A	+	1	0	IL36G	113459008	0.031000	0.19500	0.107000	0.21349	0.003000	0.03518	1.556000	0.36288	2.427000	0.82271	0.462000	0.41574	GCC	IL36G	-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1	ENSG00000136688		0.502	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL36G	HGNC	protein_coding	OTTHUMT00000330713.2		0.00	27	0	G	NM_019618		113742537	+1			no_errors	ENST00000259205	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.124	T
INF2	64423	genome.wustl.edu	37	14	105180705	105180705	+	Missense_Mutation	SNP	C	C	T	rs376139171		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105180705C>T	ENST00000392634.4	+	21	3318	c.3206C>T	c.(3205-3207)cCa>cTa	p.P1069L	INF2_ENST00000330634.7_Missense_Mutation_p.P1069L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1069					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GAGGGTGGTCCACGGCCCCTG	0.667																																																	0								C	LEU/PRO,LEU/PRO	0,3862		0,0,1931	32.0	40.0	37.0		3206,3206	2.9	0.0	14		37	4,8202		0,4,4099	no	missense,missense	INF2	NM_022489.3,NM_001031714.3	98,98	0,4,6030	TT,TC,CC		0.0487,0.0,0.0331	benign,benign	1069/1250,1069/1241	105180705	4,12064	1931	4103	6034	SO:0001583	missense	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3206C>T	14.37:g.105180705C>T	ENSP00000376410:p.Pro1069Leu		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.P1069L	ENST00000392634.4	37	c.3206	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865930	0.32977	0.0	4.87E-4	ENSG00000203485	ENST00000330634;ENST00000392634	D;D	0.83075	-1.66;-1.68	3.79	2.89	0.33648	.	1.901300	0.03206	N	0.175424	T	0.76212	0.3956	L	0.32530	0.975	0.23795	N	0.996826	B;B	0.13594	0.008;0.005	B;B	0.14023	0.01;0.004	T	0.57791	-0.7750	10	0.26408	T	0.33	.	7.9582	0.30055	0.0:0.8783:0.0:0.1217	.	1069;1069	Q27J81-2;Q27J81	.;INF2_HUMAN	L	1069	ENSP00000376406:P1069L;ENSP00000376410:P1069L	ENSP00000252527:P537L	P	+	2	0	INF2	104251750	0.003000	0.15002	0.003000	0.11579	0.033000	0.12548	1.076000	0.30729	0.888000	0.36160	0.491000	0.48974	CCA	INF2	-	NULL	ENSG00000203485		0.667	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	-	0.00	34	0	C	NM_022489		105180705	+1	tier1	-	no_errors	ENST00000392634	ensembl	human	known	74_37	missense	84.62	13	77	SNP	0.011	T
ING4	51147	genome.wustl.edu	37	12	6762111	6762111	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:6762111C>A	ENST00000396807.4	-	4	420	c.382G>T	c.(382-384)Ggc>Tgc	p.G128C	ING4_ENST00000486287.1_5'UTR|ING4_ENST00000444704.2_Missense_Mutation_p.G104C|ING4_ENST00000412586.2_Splice_Site_p.E128*|ING4_ENST00000341550.4_Missense_Mutation_p.G128C|ING4_ENST00000423703.2_Missense_Mutation_p.G128C|ING4_ENST00000446105.2_Splice_Site_p.G128C	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	128					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						CTCTTTTTGCCTTTGCTGGAA	0.542																																																	0													63.0	66.0	65.0					12																	6762111		2203	4300	6503	SO:0001583	missense	0			AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"""Zinc fingers, PHD-type"""	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.382G>T	12.37:g.6762111C>A	ENSP00000380024:p.Gly128Cys		A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E128*	ENST00000396807.4	37	c.382	CCDS44813.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.573016|4.573016	0.86542|0.86542	.|.	.|.	ENSG00000111653|ENSG00000111653	ENST00000412586|ENST00000341550;ENST00000396807;ENST00000446105;ENST00000444704;ENST00000423703	.|T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88	4.96|4.96	4.08|4.08	0.47627|0.47627	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.64148	.|0.2572	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|D;D;P;D;D	.|0.89917	.|0.996;1.0;0.525;0.983;1.0	.|D;D;B;P;D	.|0.97110	.|0.917;0.922;0.303;0.827;1.0	.|T	.|0.74405	.|-0.3676	.|8	0.05620|0.59425	T|D	0.96|0.04	-8.9717|-8.9717	13.4124|13.4124	0.60950|0.60950	0.0:0.9244:0.0:0.0756|0.0:0.9244:0.0:0.0756	.|.	.|104;128;128;128;128	.|Q9UNL4-3;A4KYM6;Q9UNL4-4;Q9UNL4;Q4VBQ6	.|.;.;.;ING4_HUMAN;.	X|C	128|128;128;128;104;128	.|ENSP00000343396:G128C;ENSP00000380024:G128C;ENSP00000415903:G128C;ENSP00000397343:G104C	ENSP00000412705:E128X|ENSP00000343396:G128C	E|G	-|-	1|1	0|0	ING4|ING4	6632372|6632372	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.294000|7.294000	0.78760|0.78760	1.317000|1.317000	0.45149|0.45149	0.650000|0.650000	0.86243|0.86243	GAA|GGC	ING4	-	NULL	ENSG00000111653		0.542	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ING4	HGNC	protein_coding	OTTHUMT00000280467.2		0.00	16	0	C	NM_198287		6762111	-1			no_errors	ENST00000412586	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	1.000	A
INPP5F	22876	genome.wustl.edu	37	10	121551401	121551401	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:121551401G>T	ENST00000361976.2	+	5	631	c.465G>T	c.(463-465)aaG>aaT	p.K155N	INPP5F_ENST00000369081.1_Missense_Mutation_p.K59N|INPP5F_ENST00000369083.3_Missense_Mutation_p.K155N	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GTAAAGAGAAGGAGAAGTTGG	0.353																																																	0													116.0	119.0	118.0					10																	121551401		2203	4300	6503	SO:0001583	missense	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.465G>T	10.37:g.121551401G>T	ENSP00000354519:p.Lys155Asn		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.K155N	ENST00000361976.2	37	c.465	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208386	0.58343	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	T;T;T	0.58358	0.34;0.34;0.34	5.68	2.85	0.33270	Synaptojanin, N-terminal (1);	0.215815	0.48767	D	0.000162	T	0.67458	0.2895	M	0.72118	2.19	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	T	0.66834	-0.5823	10	0.51188	T	0.08	-26.1989	10.0171	0.42020	0.3207:0.0:0.6793:0.0	.	155;155	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	N	155;155;59	ENSP00000354519:K155N;ENSP00000358079:K155N;ENSP00000358077:K59N	ENSP00000354519:K155N	K	+	3	2	INPP5F	121541391	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.130000	0.31393	0.749000	0.32854	-0.157000	0.13467	AAG	INPP5F	-	pfam_Syja_N	ENSG00000198825		0.353	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1		0.00	19	0	G	NM_014937		121551401	+1			no_errors	ENST00000361976	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
INTU	27152	genome.wustl.edu	37	4	128605591	128605591	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:128605591G>T	ENST00000335251.6	+	7	1312	c.1209G>T	c.(1207-1209)atG>atT	p.M403I		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	403					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TAAGGAACATGATAGAAAATG	0.279																																																	0													109.0	107.0	108.0					4																	128605591		2201	4300	6501	SO:0001583	missense	0			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1209G>T	4.37:g.128605591G>T	ENSP00000334003:p.Met403Ile		A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M403I	ENST00000335251.6	37	c.1209	CCDS34061.1	4	.	.	.	.	.	.	.	.	.	.	G	8.340	0.828504	0.16749	.	.	ENSG00000164066	ENST00000335251	T	0.32753	1.44	4.48	4.48	0.54585	.	0.146878	0.64402	D	0.000010	T	0.24547	0.0595	N	0.25144	0.715	0.80722	D	1	B	0.23185	0.081	B	0.26614	0.071	T	0.04796	-1.0926	10	0.33141	T	0.24	-1.747	17.3652	0.87362	0.0:0.0:1.0:0.0	.	403	Q9ULD6	PDZD6_HUMAN	I	403	ENSP00000334003:M403I	ENSP00000334003:M403I	M	+	3	0	INTU	128825041	1.000000	0.71417	0.816000	0.32577	0.304000	0.27724	6.994000	0.76251	2.304000	0.77564	0.591000	0.81541	ATG	INTU	-	NULL	ENSG00000164066		0.279	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	INTU	HGNC	protein_coding	OTTHUMT00000364147.2		0.00	45	0	G	XM_371707		128605591	+1			no_errors	ENST00000335251	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
IPO5	3843	genome.wustl.edu	37	13	98655251	98655251	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:98655251T>C	ENST00000490680.1	+	13	1522	c.1457T>C	c.(1456-1458)gTg>gCg	p.V486A	IPO5_ENST00000261574.5_Missense_Mutation_p.V504A|IPO5_ENST00000539640.1_Missense_Mutation_p.V361A			O00410	IPO5_HUMAN	importin 5	486					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GATAATTTGGTGAAACATCTG	0.408																																																	0													163.0	158.0	160.0					13																	98655251		2203	4300	6503	SO:0001583	missense	0			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1457T>C	13.37:g.98655251T>C	ENSP00000418393:p.Val486Ala		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.V504A	ENST00000490680.1	37	c.1511		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.02|17.02	3.281049|3.281049	0.59758|0.59758	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.72051|.	-0.62;-0.62;-0.62;-0.62|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.057004|.	0.64402|.	D|.	0.000001|.	T|.	0.62877|.	0.2464|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	B;B;B|.	0.06786|.	0.001;0.0;0.001|.	B;B;B|.	0.10450|.	0.003;0.002;0.005|.	T|.	0.59994|.	-0.7349|.	10|.	0.49607|.	T|.	0.09|.	-12.7159|-12.7159	15.7846|15.7846	0.78291|0.78291	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	361;486;504|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	A|R	504;486;486;361|488	ENSP00000261574:V504A;ENSP00000350219:V486A;ENSP00000418393:V486A;ENSP00000445126:V361A|.	ENSP00000261574:V504A|.	V|X	+|+	2|1	0|0	IPO5|IPO5	97453252|97453252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.972000|7.972000	0.88022|0.88022	2.123000|2.123000	0.65237|0.65237	0.460000|0.460000	0.39030|0.39030	GTG|TGA	IPO5	-	superfamily_ARM-type_fold	ENSG00000065150		0.408	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	-	0.00	22	0	T	NM_002271		98655251	+1	tier1	-	no_errors	ENST00000261574	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	C
IQCA1	79781	genome.wustl.edu	37	2	237240170	237240170	+	Silent	SNP	C	C	T	rs377472762		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:237240170C>T	ENST00000409907.3	-	18	2479	c.2205G>A	c.(2203-2205)gcG>gcA	p.A735A	IQCA1_ENST00000431676.2_Silent_p.A694A|IQCA1_ENST00000309507.5_Silent_p.A732A	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	735							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CAGTGACCTTCGCCAGGCAGC	0.488																																																	0								C		0,4064		0,0,2032	88.0	87.0	87.0		2205	-10.5	0.0	2		87	1,8349		0,1,4174	no	coding-synonymous	IQCA1	NM_024726.3		0,1,6206	TT,TC,CC		0.012,0.0,0.0081		735/823	237240170	1,12413	2032	4175	6207	SO:0001819	synonymous_variant	0			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.2205G>A	2.37:g.237240170C>T			B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.A735	ENST00000409907.3	37	c.2205	CCDS46549.1	2																																																																																			IQCA1	-	superfamily_P-loop_NTPase	ENSG00000132321		0.488	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	-	0.00	33	0	C	NM_024726		237240170	-1	tier1	-	no_errors	ENST00000409907	ensembl	human	known	74_37	silent	32.76	39	19	SNP	0.000	T
IRF9	10379	genome.wustl.edu	37	14	24632612	24632612	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:24632612A>G	ENST00000396864.3	+	4	677	c.390A>G	c.(388-390)ccA>ccG	p.P130P	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Silent_p.P28P	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	130					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGAAAGTACCATCAAAGCGAC	0.547																																																	0													219.0	215.0	216.0					14																	24632612		2203	4300	6503	SO:0001819	synonymous_variant	0			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.390A>G	14.37:g.24632612A>G			D3DS61	Silent	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.P130	ENST00000396864.3	37	c.390	CCDS9615.1	14																																																																																			IRF9	-	NULL	ENSG00000213928		0.547	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF9	HGNC	protein_coding	OTTHUMT00000071927.2	-	0.00	75	0	A			24632612	+1	tier1	-	no_errors	ENST00000396864	ensembl	human	known	74_37	silent	45.71	56	48	SNP	0.004	G
IRS1	3667	genome.wustl.edu	37	2	227661663	227661664	+	Frame_Shift_Ins	INS	-	-	C	rs552502879		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:227661663_227661664insC	ENST00000305123.5	-	1	2811_2812	c.1791_1792insG	c.(1789-1794)gggcacfs	p.H598fs	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	598					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.H598fs*13(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGCGGTGGTGCCCCCCCCGAC	0.683											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Insertion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1792dupG	2.37:g.227661671_227661671dupC	ENSP00000304895:p.His598fs	2321		Frame_Shift_Ins	INS	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.H597fs	ENST00000305123.5	37	c.1792_1791	CCDS2463.1	2																																																																																			IRS1	-	NULL	ENSG00000169047		0.683	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3		0.00	84	0	-	NM_005544		227661664	-1	tier1		no_errors	ENST00000305123	ensembl	human	known	74_37	frame_shift_ins	30.22	97	42	INS	1.000:0.995	C
ITGA6	3655	genome.wustl.edu	37	2	173335732	173335733	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:173335732_173335733insT	ENST00000264106.6	+	5	877_878	c.674_675insT	c.(673-678)acttttfs	p.TF225fs	ITGA6_ENST00000409080.1_Frame_Shift_Ins_p.TF225fs|ITGA6_ENST00000375221.2_Frame_Shift_Ins_p.TF225fs|ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000264107.7_Frame_Shift_Ins_p.TF225fs|ITGA6_ENST00000343713.4_Intron			P23229	ITA6_HUMAN	integrin, alpha 6	225					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAGAATAACACTTTTTTTGACA	0.347																																																	0																																										SO:0001589	frameshift_variant	0				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.681dupT	2.37:g.173335739_173335739dupT	ENSP00000264106:p.Thr225fs		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Frame_Shift_Ins	INS	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.D228fs	ENST00000264106.6	37	c.674_675		2																																																																																			ITGA6	-	NULL	ENSG00000091409		0.347	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding			0.00	37	0	-			173335733	+1	tier1		no_errors	ENST00000264106	ensembl	human	known	74_37	frame_shift_ins	21.43	55	15	INS	1.000:1.000	T
ITGAM	3684	genome.wustl.edu	37	16	31336608	31336608	+	Silent	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:31336608G>T	ENST00000287497.8	+	20	2463	c.2388G>T	c.(2386-2388)ggG>ggT	p.G796G	ITGAM_ENST00000544665.3_Silent_p.G797G			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	796					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGGTGGGTGGGCCCCGGGAGT	0.607																																																	0													56.0	59.0	58.0					16																	31336608		2052	4204	6256	SO:0001819	synonymous_variant	0			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2388G>T	16.37:g.31336608G>T			Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G797	ENST00000287497.8	37	c.2391	CCDS45470.1	16																																																																																			ITGAM	-	pfam_Integrin_alpha-2	ENSG00000169896		0.607	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1		0.00	45	0	G	NM_000632		31336608	+1			no_errors	ENST00000544665	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.000	T
ITGAV	3685	genome.wustl.edu	37	2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-	rs567294324		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:187521085delG	ENST00000261023.3	+	17	1950	c.1676delG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACTATTTCAAGGGGGGGACTG	0.428																																					Melanoma(58;108 1995 6081)												0													249.0	235.0	239.0					2																	187521085		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1676delG	2.37:g.187521085delG	ENSP00000261023:p.Arg559fs		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Del	DEL	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G561fs	ENST00000261023.3	37	c.1676	CCDS2292.1	2																																																																																			ITGAV	-	pfam_Integrin_alpha-2	ENSG00000138448		0.428	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2		0.00	20	0	G	NM_002210		187521085	+1	tier1		no_errors	ENST00000261023	ensembl	human	known	74_37	frame_shift_del	29.03	22	9	DEL	0.609	-
ITIH5	80760	genome.wustl.edu	37	10	7601825	7601825	+	Frame_Shift_Del	DEL	T	T	-	rs141248725|rs368850950	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:7601825delT	ENST00000397146.2	-	12	2124	c.2019delA	c.(2017-2019)aaafs	p.K673fs	ITIH5_ENST00000256861.6_3'UTR			Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	125					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ttttgttttgtttttttttga	0.493																																																	0																																										SO:0001589	frameshift_variant	0					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000397146.2:c.2019delA	10.37:g.7601825delT	ENSP00000380333:p.Lys673fs		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Frame_Shift_Del	DEL	pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.K673fs	ENST00000397146.2	37	c.2019		10																																																																																			ITIH5	-	NULL	ENSG00000123243		0.493	ITIH5-202	KNOWN	basic	protein_coding	ITIH5	HGNC	protein_coding			0.00	13	0	T	NM_030569		7601825	-1	tier1		no_errors	ENST00000397146	ensembl	human	known	74_37	frame_shift_del	50.00	3	3	DEL	0.008	-
ITPKC	80271	genome.wustl.edu	37	19	41223790	41223791	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:41223790_41223791insA	ENST00000263370.2	+	1	783_784	c.750_751insA	c.(751-753)aaafs	p.K251fs	ADCK4_ENST00000450541.1_5'Flank|ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000324464.3_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	251					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATGGCTCCCAGAAAAAACAGGA	0.495																																																	0																																										SO:0001589	frameshift_variant	0			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.756dupA	19.37:g.41223796_41223796dupA	ENSP00000263370:p.Lys251fs		Q9UE25|Q9Y475	Frame_Shift_Ins	INS	pfam_IPK	p.Q252fs	ENST00000263370.2	37	c.750_751	CCDS12563.1	19																																																																																			ITPKC	-	NULL	ENSG00000086544		0.495	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKC	HGNC	protein_coding	OTTHUMT00000463104.1		0.00	23	0	-	NM_025194		41223791	+1	tier1		no_errors	ENST00000263370	ensembl	human	known	74_37	frame_shift_ins	40.00	15	10	INS	0.002:0.001	A
JAK1	3716	genome.wustl.edu	37	1	65306997	65306997	+	Frame_Shift_Del	DEL	T	T	-	rs202179869		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:65306997delT	ENST00000342505.4	-	19	2828	c.2580delA	c.(2578-2580)aaafs	p.K860fs	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	860					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CAGTTGCTGGTTTTTTTTCTG	0.468			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													93.0	93.0	93.0					1																	65306997		1870	4100	5970	SO:0001589	frameshift_variant	0			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2580delA	1.37:g.65306997delT	ENSP00000343204:p.Lys860fs		Q59GQ2|Q9UD26	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,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,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom	p.K860fs	ENST00000342505.4	37	c.2580	CCDS41346.1	1																																																																																			JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_Kinase-like_dom	ENSG00000162434		0.468	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1		0.00	43	0	T	NM_002227		65306997	-1	tier1		no_errors	ENST00000342505	ensembl	human	known	74_37	frame_shift_del	26.32	42	15	DEL	0.055	-
JAK2	3717	genome.wustl.edu	37	9	5044449	5044449	+	Silent	SNP	C	C	A	rs371826393		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:5044449C>A	ENST00000381652.3	+	5	891	c.397C>A	c.(397-399)Cgg>Agg	p.R133R	JAK2_ENST00000539801.1_Silent_p.R133R|JAK2_ENST00000544510.1_5'UTR	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	133	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CAGAGCCTATCGGCATGGAAT	0.383		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													141.0	131.0	134.0					9																	5044449		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.397C>A	9.37:g.5044449C>A			O14636|O75297	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,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_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R133	ENST00000381652.3	37	c.397	CCDS6457.1	9																																																																																			JAK2	-	smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,prints_Tyr_kinase_non-rcpt_Jak2	ENSG00000096968		0.383	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	-	0.00	41	0	C			5044449	+1	tier1	-	no_errors	ENST00000381652	ensembl	human	known	74_37	silent	28.57	35	14	SNP	1.000	A
JKAMP	51528	genome.wustl.edu	37	14	59965486	59965486	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:59965486T>C	ENST00000261247.9	+	5	647	c.500T>C	c.(499-501)tTa>tCa	p.L167S	JKAMP_ENST00000356057.5_Missense_Mutation_p.L175S|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000554271.1_Missense_Mutation_p.L181S|JKAMP_ENST00000425728.2_Missense_Mutation_p.L161S	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	182					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGCTTGGTATTAATGATGCTG	0.308																																																	0													94.0	84.0	87.0					14																	59965486		1827	4085	5912	SO:0001583	missense	0			AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"""Jun N-terminal kinase 1-associated membrane protein"""	611176	"""chromosome 14 open reading frame 100"""	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.500T>C	14.37:g.59965486T>C	ENSP00000261247:p.Leu167Ser		B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Missense_Mutation	SNP	pfam_DUF766	p.L175S	ENST00000261247.9	37	c.524	CCDS45116.1	14	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328283	0.60743	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000554271;ENST00000554795;ENST00000356057	.	.	.	5.39	5.39	0.77823	.	0.366777	0.29515	N	0.011940	T	0.56485	0.1988	L	0.41236	1.265	0.50813	D	0.999898	P;P;B;P;P	0.44429	0.78;0.527;0.235;0.527;0.835	P;B;B;B;P	0.45577	0.486;0.354;0.246;0.354;0.474	T	0.60510	-0.7249	9	0.59425	D	0.04	-39.9199	15.7009	0.77541	0.0:0.0:0.0:1.0	.	182;181;161;175;167	Q9P055;G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	JKAMP_HUMAN;.;.;.;.	S	167;161;181;175;175	.	ENSP00000261247:L167S	L	+	2	0	JKAMP	59035239	0.997000	0.39634	0.992000	0.48379	0.995000	0.86356	7.860000	0.86993	2.169000	0.68431	0.533000	0.62120	TTA	JKAMP	-	pfam_DUF766	ENSG00000050130		0.308	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	JKAMP	HGNC	protein_coding	OTTHUMT00000411430.1	-	0.00	22	0	T	NM_001098625		59965486	+1	tier1	-	no_errors	ENST00000356057	ensembl	human	known	74_37	missense	50.94	26	27	SNP	0.997	C
JMJD8	339123	genome.wustl.edu	37	16	732799	732799	+	Missense_Mutation	SNP	C	C	T	rs201419838		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:732799C>T	ENST00000293882.4	-	9	999	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	STUB1_ENST00000219548.4_3'UTR|JMJD8_ENST00000562824.1_Missense_Mutation_p.G234S|JMJD8_ENST00000562111.1_Missense_Mutation_p.G219S|JMJD8_ENST00000412368.2_Missense_Mutation_p.G285S|JMJD8_ENST00000609261.1_Missense_Mutation_p.G264S|JMJD8_ENST00000454700.1_Missense_Mutation_p.G304S			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	334	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					extracellular vesicular exosome (GO:0070062)				breast(1)	1						TTTGGCTAGCCGAGGAAGGTG	0.592																																																	0								C	SER/GLY	3,4287		0,3,2142	35.0	42.0	40.0		853	0.5	0.0	16		40	13,8503		0,13,4245	yes	missense	JMJD8	NM_001005920.2	56	0,16,6387	TT,TC,CC		0.1527,0.0699,0.1249	benign	285/286	732799	16,12790	2145	4258	6403	SO:0001583	missense	0				CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.1000G>A	16.37:g.732799C>T	ENSP00000293882:p.Gly334Ser		B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	pfam_JmjC_dom,pfscan_JmjC_dom	p.G334S	ENST00000293882.4	37	c.1000		16	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574713	0.65878	6.99E-4	0.001527	ENSG00000161999	ENST00000412368;ENST00000293882;ENST00000454700	.	.	.	4.78	0.455	0.16649	.	0.234850	0.42420	N	0.000708	T	0.38799	0.1054	N	0.19112	0.55	0.47276	D	0.999371	B	0.28880	0.226	B	0.24394	0.053	T	0.13150	-1.0520	9	0.38643	T	0.18	-15.266	13.5042	0.61476	0.0:0.8443:0.0:0.1557	.	304	Q96S16-2	.	S	285;334;304	.	ENSP00000293882:G334S	G	-	1	0	JMJD8	672800	0.862000	0.29867	0.004000	0.12327	0.280000	0.26924	1.849000	0.39318	-0.064000	0.13043	0.655000	0.94253	GGC	JMJD8	-	pfscan_JmjC_dom	ENSG00000161999		0.592	JMJD8-201	KNOWN	basic	protein_coding	JMJD8	HGNC	protein_coding		-	0.00	45	0	C	NM_001005920		732799	-1	tier1	rs201419838	no_errors	ENST00000293882	ensembl	human	known	74_37	missense	60.78	19	31	SNP	0.869	T
JPH3	57338	genome.wustl.edu	37	16	87677966	87677966	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:87677966C>T	ENST00000284262.2	+	2	727	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	162					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)		CCCCTGAGGACGTCCATCAAC	0.731																																																	0													52.0	54.0	53.0					16																	87677966		2198	4297	6495	SO:0001583	missense	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.485C>T	16.37:g.87677966C>T	ENSP00000284262:p.Thr162Met		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.T162M	ENST00000284262.2	37	c.485	CCDS10962.1	16	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673502	0.88445	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.55930	0.49	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.76561	-0.2914	10	0.72032	D	0.01	.	17.3468	0.87311	0.0:1.0:0.0:0.0	.	162	Q8WXH2	JPH3_HUMAN	M	25;162	ENSP00000284262:T162M	ENSP00000284262:T162M	T	+	2	0	JPH3	86235467	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.514000	0.81750	2.334000	0.79466	0.462000	0.41574	ACG	JPH3	-	pirsf_Junctophilin	ENSG00000154118		0.731	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	-	0.00	61	0	C			87677966	+1	tier1	-	no_errors	ENST00000284262	ensembl	human	known	74_37	missense	34.62	85	45	SNP	1.000	T
JPH3	57338	genome.wustl.edu	37	16	87678537	87678537	+	Frame_Shift_Del	DEL	C	C	-	rs563154923		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:87678537delC	ENST00000284262.2	+	2	1298	c.1056delC	c.(1054-1056)atcfs	p.I352fs		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	352					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)		AGAACCTCATCCCCCTGCGGG	0.662																																																	0													38.0	46.0	43.0					16																	87678537		2198	4300	6498	SO:0001589	frameshift_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.1056delC	16.37:g.87678537delC	ENSP00000284262:p.Ile352fs		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Frame_Shift_Del	DEL	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.L354fs	ENST00000284262.2	37	c.1056	CCDS10962.1	16																																																																																			JPH3	-	pirsf_Junctophilin	ENSG00000154118		0.662	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2		0.00	30	0	C			87678537	+1	tier1		no_errors	ENST00000284262	ensembl	human	known	74_37	frame_shift_del	37.31	42	25	DEL	1.000	-
KALRN	8997	genome.wustl.edu	37	3	124438073	124438073	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:124438073G>C	ENST00000291478.5	+	27	3789	c.3626G>C	c.(3625-3627)gGt>gCt	p.G1209A	KALRN_ENST00000428018.2_Missense_Mutation_p.G1177A|KALRN_ENST00000360013.3_Missense_Mutation_p.G2906A	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2905					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TACTTCTGTGGTGTGAGCAAT	0.512																																																	0													78.0	75.0	76.0					3																	124438073		2203	4300	6503	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3626G>C	3.37:g.124438073G>C	ENSP00000291478:p.Gly1209Ala		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.G2906A	ENST00000291478.5	37	c.8717	CCDS3028.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.75|14.75	2.627738|2.627738	0.46944|0.46944	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	T;T;T|.	0.63744|.	-0.06;-0.06;-0.06|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.209104|.	0.40640|.	N|.	0.001046|.	T|T	0.33440|0.33440	0.0863|0.0863	N|N	0.21097|0.21097	0.63|0.63	0.25982|0.25982	N|N	0.982358|0.982358	P;B|.	0.35714|.	0.517;0.037|.	B;B|.	0.36504|.	0.226;0.057|.	T|T	0.17258|0.17258	-1.0375|-1.0375	10|5	0.13470|.	T|.	0.59|.	.|.	10.3621|10.3621	0.44001|0.44001	0.1144:0.0:0.8856:0.0|0.1144:0.0:0.8856:0.0	.|.	1209;2905|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	A|L	2906;1209;1177|2875	ENSP00000353109:G2906A;ENSP00000291478:G1209A;ENSP00000402419:G1177A|.	ENSP00000291478:G1209A|.	G|V	+|+	2|1	0|0	KALRN|KALRN	125920763|125920763	0.972000|0.972000	0.33761|0.33761	0.909000|0.909000	0.35828|0.35828	0.990000|0.990000	0.78478|0.78478	2.280000|2.280000	0.43443|0.43443	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GGT|GTG	KALRN	-	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	ENSG00000160145		0.512	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	-	0.00	25	0	G	NM_003947		124438073	+1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	38.24	21	13	SNP	0.752	C
KAT2A	2648	genome.wustl.edu	37	17	40270397	40270399	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:40270397_40270399delCTC	ENST00000225916.5	-	7	1149_1151	c.1096_1098delGAG	c.(1096-1098)gagdel	p.E366del		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	366					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCCCATAGATCTCCTCCTCCAGC	0.601																																																	0																																										SO:0001651	inframe_deletion	0			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1096_1098delGAG	17.37:g.40270403_40270405delCTC	ENSP00000225916:p.Glu366del		Q8N1A2|Q9UCW1	In_Frame_Del	DEL	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain	p.E366in_frame_del	ENST00000225916.5	37	c.1098_1096	CCDS11417.1	17																																																																																			KAT2A	-	pirsf_Hist_acetylase_PCAF	ENSG00000108773		0.601	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	HGNC	protein_coding	OTTHUMT00000257458.1		0.00	29	0	CTC	NM_021078		40270399	-1	tier1		no_errors	ENST00000225916	ensembl	human	known	74_37	in_frame_del	20.00	32	8	DEL	1.000:1.000:1.000	-
KAT6B	23522	genome.wustl.edu	37	10	76780447	76780447	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:76780447T>C	ENST00000287239.4	+	14	3226	c.2737T>C	c.(2737-2739)Tat>Cat	p.Y913H	KAT6B_ENST00000372711.1_Missense_Mutation_p.Y730H|KAT6B_ENST00000372714.1_Missense_Mutation_p.Y621H|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y621H|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.Y621H	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	913	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CATCTTGGAGTATCTCTACCA	0.542																																																	0													112.0	94.0	100.0					10																	76780447		2203	4300	6503	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2737T>C	10.37:g.76780447T>C	ENSP00000287239:p.Tyr913His		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Y913H	ENST00000287239.4	37	c.2737	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	T	14.14	2.447709	0.43429	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.79033	-1.21;-1.21;-1.23;-1.21;-1.21	5.88	5.88	0.94601	.	0.000000	0.41294	D	0.000918	D	0.87759	0.6258	M	0.78049	2.395	0.58432	D	0.999993	P;P;D	0.76494	0.909;0.552;0.999	P;B;D	0.83275	0.554;0.189;0.996	D	0.86604	0.1868	10	0.33141	T	0.24	-9.8421	16.2815	0.82692	0.0:0.0:0.0:1.0	.	730;621;913	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	H	621;621;913;621;730	ENSP00000361810:Y621H;ENSP00000361809:Y621H;ENSP00000287239:Y913H;ENSP00000361799:Y621H;ENSP00000361796:Y730H	ENSP00000287239:Y913H	Y	+	1	0	KAT6B	76450453	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.613000	0.61176	2.246000	0.74042	0.533000	0.62120	TAT	KAT6B	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase	ENSG00000156650		0.542	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	-	0.00	11	0	T	NM_012330		76780447	+1	tier1	-	no_errors	ENST00000287239	ensembl	human	known	74_37	missense	68.29	13	28	SNP	1.000	C
KATNAL1	84056	genome.wustl.edu	37	13	30829644	30829644	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:30829644C>A	ENST00000380615.3	-	4	599	c.432G>T	c.(430-432)aaG>aaT	p.K144N	KATNAL1_ENST00000380617.3_Missense_Mutation_p.K144N	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCTTTTCACTCTTTGATATAG	0.493																																																	0													333.0	327.0	329.0					13																	30829644		2203	4300	6503	SO:0001583	missense	0			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.432G>T	13.37:g.30829644C>A	ENSP00000369989:p.Lys144Asn			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K144N	ENST00000380615.3	37	c.432	CCDS31956.1	13	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786243	0.49997	.	.	ENSG00000102781	ENST00000380615;ENST00000380617;ENST00000414289;ENST00000441394	D;D	0.94280	-3.39;-3.39	5.8	5.8	0.92144	.	0.510335	0.24499	N	0.037989	D	0.86636	0.5980	N	0.24115	0.695	0.44825	D	0.997839	B	0.02656	0.0	B	0.04013	0.001	T	0.80313	-0.1435	10	0.22109	T	0.4	0.0052	10.4491	0.44511	0.0:0.8559:0.0:0.1441	.	144	Q9BW62	KATL1_HUMAN	N	144	ENSP00000369989:K144N;ENSP00000369991:K144N	ENSP00000369989:K144N	K	-	3	2	KATNAL1	29727644	1.000000	0.71417	0.914000	0.36105	0.924000	0.55760	1.391000	0.34475	2.741000	0.93983	0.650000	0.86243	AAG	KATNAL1	-	NULL	ENSG00000102781		0.493	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KATNAL1	HGNC	protein_coding	OTTHUMT00000044346.2	-	0.00	65	0	C	NM_032116		30829644	-1	tier1	-	no_errors	ENST00000380615	ensembl	human	known	74_37	missense	47.44	41	37	SNP	0.998	A
KBTBD2	25948	genome.wustl.edu	37	7	32914666	32914666	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:32914666C>T	ENST00000304056.4	-	3	973	c.274G>A	c.(274-276)Ggt>Agt	p.G92S	KBTBD2_ENST00000485611.1_5'UTR|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	92	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GCCAAGTTACCCGTGTATGCA	0.393																																																	0													237.0	203.0	214.0					7																	32914666		2203	4300	6503	SO:0001583	missense	0			AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.274G>A	7.37:g.32914666C>T	ENSP00000302586:p.Gly92Ser		A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G92S	ENST00000304056.4	37	c.274	CCDS34614.1	7	.	.	.	.	.	.	.	.	.	.	C	14.35	2.507838	0.44558	.	.	ENSG00000170852	ENST00000304056	T	0.74315	-0.83	5.61	4.73	0.59995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.044361	0.85682	N	0.000000	T	0.73737	0.3625	N	0.17248	0.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68815	-0.5309	10	0.11794	T	0.64	.	14.4008	0.67044	0.0:0.929:0.0:0.071	.	92	Q8IY47	KBTB2_HUMAN	S	92	ENSP00000302586:G92S	ENSP00000302586:G92S	G	-	1	0	KBTBD2	32881191	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.740000	0.84986	1.373000	0.46208	-0.225000	0.12378	GGT	KBTBD2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000170852		0.393	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD2	HGNC	protein_coding	OTTHUMT00000328890.1	-	0.00	88	0	C	XM_291224		32914666	-1	tier1	-	no_errors	ENST00000304056	ensembl	human	known	74_37	missense	39.68	76	50	SNP	1.000	T
KCNA6	3742	genome.wustl.edu	37	12	4919431	4919431	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:4919431G>A	ENST00000280684.3	+	1	1090	c.224G>A	c.(223-225)cGc>cAc	p.R75H	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.R75H			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	75					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CGGCGAGTCCGCTTCTTCGAC	0.632										HNSCC(72;0.22)																																							0													48.0	50.0	49.0					12																	4919431		2203	4300	6503	SO:0001583	missense	0			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.224G>A	12.37:g.4919431G>A	ENSP00000280684:p.Arg75His			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R75H	ENST00000280684.3	37	c.224	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835563	0.50951	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76839	-1.05;-1.05	4.57	4.57	0.56435	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.111377	0.64402	D	0.000007	T	0.70413	0.3221	L	0.45581	1.43	0.48452	D	0.999655	B	0.26081	0.141	B	0.23574	0.047	T	0.69363	-0.5165	10	0.45353	T	0.12	.	12.0894	0.53717	0.0865:0.0:0.9135:0.0	.	75	P17658	KCNA6_HUMAN	H	75	ENSP00000408321:R75H;ENSP00000280684:R75H	ENSP00000280684:R75H	R	+	2	0	KCNA6	4789692	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.655000	0.83696	2.363000	0.80096	0.462000	0.41574	CGC	KCNA6	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1	ENSG00000151079		0.632	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	-	0.00	85	0	G	NM_002235		4919431	+1	tier1	-	no_errors	ENST00000280684	ensembl	human	known	74_37	missense	48.00	91	84	SNP	1.000	A
KCNC2	3747	genome.wustl.edu	37	12	75601161	75601161	+	Silent	SNP	G	G	A	rs200758140		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:75601161G>A	ENST00000549446.1	-	2	1283	c.603C>T	c.(601-603)ccC>ccT	p.P201P	KCNC2_ENST00000548513.1_Silent_p.P201P|KCNC2_ENST00000341669.3_Silent_p.P201P|KCNC2_ENST00000350228.2_Silent_p.P201P|KCNC2_ENST00000393288.2_Silent_p.P201P|KCNC2_ENST00000298972.1_Silent_p.P201P|KCNC2_ENST00000550433.1_Silent_p.P201P|KCNC2_ENST00000540018.1_Silent_p.P201P	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	201					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	ATTTGCCGTCGGGGCCCCCGA	0.701																																																	0													10.0	9.0	9.0					12																	75601161		2156	4182	6338	SO:0001819	synonymous_variant	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.603C>T	12.37:g.75601161G>A			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.P201	ENST00000549446.1	37	c.603	CCDS9007.1	12																																																																																			KCNC2	-	NULL	ENSG00000166006		0.701	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNC2	HGNC	protein_coding	OTTHUMT00000405581.2	-	0.00	53	0	G	NM_153748		75601161	-1	tier1	-	no_errors	ENST00000549446	ensembl	human	known	74_37	silent	57.46	57	77	SNP	0.346	A
KCNC3	3748	genome.wustl.edu	37	19	50824036	50824036	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:50824036G>A	ENST00000477616.1	-	3	2278	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	KCNC3_ENST00000474951.1_5'UTR|KCNC3_ENST00000391818.2_5'UTR|KCNC3_ENST00000376959.2_Missense_Mutation_p.R662C	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	662					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CCATTGGGGCGAGGATCTGCA	0.632																																					Melanoma(91;1496 2324 50908)												0													29.0	29.0	29.0					19																	50824036		2203	4300	6503	SO:0001583	missense	0			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1984C>T	19.37:g.50824036G>A	ENSP00000434241:p.Arg662Cys			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.R662C	ENST00000477616.1	37	c.1984	CCDS12793.1	19	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168515	0.57584	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.98135	-4.74;-4.74	2.72	2.72	0.32119	.	8.724180	0.01204	U	0.007671	D	0.94810	0.8324	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.998;0.981	P;B	0.48677	0.586;0.136	D	0.89675	0.3886	10	0.87932	D	0	.	6.9932	0.24767	0.0:0.0:0.7282:0.2718	.	662;662	Q14003;E7ETH1	KCNC3_HUMAN;.	C	662;662;476	ENSP00000366158:R662C;ENSP00000434241:R662C	ENSP00000366158:R662C	R	-	1	0	KCNC3	55515848	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	5.215000	0.65241	1.540000	0.49301	0.460000	0.39030	CGC	KCNC3	-	NULL	ENSG00000131398		0.632	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	-	0.00	75	0	G	NM_004977		50824036	-1	tier1	-	no_errors	ENST00000477616	ensembl	human	known	74_37	missense	78.01	31	110	SNP	1.000	A
KCNG3	170850	genome.wustl.edu	37	2	42671596	42671596	+	Silent	SNP	C	C	T	rs367799233		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:42671596C>T	ENST00000306078.1	-	2	1384	c.789G>A	c.(787-789)acG>acA	p.T263T	KCNG3_ENST00000394973.4_Silent_p.T252T	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	263					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TGTAATACGGCGTGATTGCCA	0.458																																																	0								C	,	0,4406		0,0,2203	118.0	105.0	109.0		789,756	-10.3	0.3	2		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KCNG3	NM_133329.5,NM_172344.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	263/437,252/426	42671596	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.789G>A	2.37:g.42671596C>T			Q53SC1	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.T263	ENST00000306078.1	37	c.789	CCDS1809.1	2																																																																																			KCNG3	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000171126		0.458	KCNG3-001	KNOWN	basic|CCDS	protein_coding	KCNG3	HGNC	protein_coding	OTTHUMT00000250464.2	-	0.00	16	0	C	NM_172344		42671596	-1	tier1	-	no_errors	ENST00000306078	ensembl	human	known	74_37	silent	16.67	30	6	SNP	0.003	T
KCNJ12	3768	genome.wustl.edu	37	17	21319498	21319498	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:21319498G>A	ENST00000583088.1	+	3	1739	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G282S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	282					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCCGCTCTTCGGCATCAGCCG	0.612										Prostate(3;0.18)																																							0																																										SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.844G>A	17.37:g.21319498G>A	ENSP00000463778:p.Gly282Ser		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.G282S	ENST00000583088.1	37	c.844	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588792	0.66105	.	.	ENSG00000184185	ENST00000331718	D	0.92348	-3.02	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.90728	0.7090	L	0.58925	1.835	0.80722	D	1	B	0.25486	0.127	B	0.25884	0.064	D	0.87324	0.2320	10	0.30078	T	0.28	.	19.2593	0.93961	0.0:0.0:1.0:0.0	.	282	Q14500	IRK12_HUMAN	S	282	ENSP00000328150:G282S	ENSP00000328150:G282S	G	+	1	0	KCNJ12	21260091	1.000000	0.71417	0.988000	0.46212	0.918000	0.54935	9.690000	0.98676	2.543000	0.85770	0.655000	0.94253	GGC	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0.00	91	0	G	NM_021012		21319498	+1	tier1	-	no_errors	ENST00000331718	ensembl	human	known	74_37	missense	19.25	130	31	SNP	1.000	A
KCNH4	23415	genome.wustl.edu	37	17	40315711	40315711	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:40315711C>G	ENST00000264661.3	-	13	2722	c.2390G>C	c.(2389-2391)gGc>gCc	p.G797A	KCNH4_ENST00000607371.1_Missense_Mutation_p.G797A	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	797			G -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTGGGGGGGCCGTGAGGGGA	0.667																																					NSCLC(117;707 1703 2300 21308 31858)												0													12.0	15.0	14.0					17																	40315711		2163	4187	6350	SO:0001583	missense	0			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2390G>C	17.37:g.40315711C>G	ENSP00000264661:p.Gly797Ala			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.G797A	ENST00000264661.3	37	c.2390	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	C	0.100	-1.153254	0.01700	.	.	ENSG00000089558	ENST00000264661	D	0.98633	-5.04	4.32	0.942	0.19525	.	1.392810	0.05456	U	0.550307	D	0.92773	0.7702	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.89008	0.3426	10	0.02654	T	1	.	2.7176	0.05192	0.1404:0.5205:0.1546:0.1845	.	797	Q9UQ05	KCNH4_HUMAN	A	797	ENSP00000264661:G797A	ENSP00000264661:G797A	G	-	2	0	KCNH4	37569237	0.000000	0.05858	0.020000	0.16555	0.146000	0.21551	-0.048000	0.11944	0.453000	0.26858	0.484000	0.47621	GGC	KCNH4	-	NULL	ENSG00000089558		0.667	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	-	0.00	22	0	C	NM_012285		40315711	-1	tier1	-	no_errors	ENST00000264661	ensembl	human	known	74_37	missense	56.76	16	21	SNP	0.000	G
KCNMA1	3778	genome.wustl.edu	37	10	78870005	78870005	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:78870005C>T	ENST00000286628.8	-	8	1056	c.1057G>A	c.(1057-1059)Gtt>Att	p.V353I	KCNMA1_ENST00000354353.5_Missense_Mutation_p.V353I|KCNMA1_ENST00000286627.5_Missense_Mutation_p.V353I|KCNMA1_ENST00000404857.1_Missense_Mutation_p.V353I|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V353I|KCNMA1_ENST00000406533.3_Missense_Mutation_p.V353I|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V353I|KCNMA1_ENST00000372440.1_Missense_Mutation_p.V353I	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	353					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.V353F(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CCATAACCAACGGTGGACATT	0.438																																																	2	Substitution - Missense(2)	endometrium(2)											226.0	222.0	223.0					10																	78870005		2203	4300	6503	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1057G>A	10.37:g.78870005C>T	ENSP00000286628:p.Val353Ile		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.V353I	ENST00000286628.8	37	c.1057		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.024791|5.024791	0.93518|0.93518	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.97575	.|-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Ion transport (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97626|0.97626	0.9222|0.9222	L|L	0.39692|0.39692	1.235|1.235	0.80722|0.80722	D|D	1|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	.|0.996;1.0;0.996;0.999;1.0;1.0;0.995	D|D	0.98863|0.98863	1.0763|1.0763	5|10	.|0.87932	.|D	.|0	-11.3747|-11.3747	19.3186|19.3186	0.94226|0.94226	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|353;353;353;353;353;135;353	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.	H|I	341;31|353;290;288;327;290;353;353;327;353;353;353;135	.|ENSP00000361517:V353I;ENSP00000361485:V290I;ENSP00000361514:V288I;ENSP00000396608:V327I;ENSP00000361520:V353I;ENSP00000286627:V353I;ENSP00000385552:V353I;ENSP00000346321:V353I;ENSP00000385806:V353I	.|ENSP00000286627:V353I	R|V	-|-	2|1	0|0	KCNMA1|KCNMA1	78540011|78540011	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.875000|0.875000	0.50365|0.50365	7.811000|7.811000	0.86092|0.86092	2.567000|2.567000	0.86603|0.86603	0.643000|0.643000	0.83706|0.83706	CGT|GTT	KCNMA1	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000156113		0.438	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0.00	60	0	C	NM_002247		78870005	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	25.40	47	16	SNP	1.000	T
KCNMB4	27345	genome.wustl.edu	37	12	70824403	70824403	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:70824403G>A	ENST00000258111.4	+	3	1062	c.603G>A	c.(601-603)gcG>gcA	p.A201A		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	201					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	CGGTCAAGGCGGAAGCCATGA	0.547																																																	0													77.0	69.0	72.0					12																	70824403		2203	4300	6503	SO:0001819	synonymous_variant	0			AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.603G>A	12.37:g.70824403G>A			Q8IVR3|Q9NPA4|Q9P0G5	Silent	SNP	pfam_K_chnl_Ca-activ_BK_bsu	p.A201	ENST00000258111.4	37	c.603	CCDS8997.1	12																																																																																			KCNMB4	-	pfam_K_chnl_Ca-activ_BK_bsu	ENSG00000135643		0.547	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNMB4	HGNC	protein_coding	OTTHUMT00000395208.1	-	0.00	26	0	G	NM_014505		70824403	+1	tier1	-	no_errors	ENST00000258111	ensembl	human	known	74_37	silent	26.42	39	14	SNP	0.964	A
KCNN1	3780	genome.wustl.edu	37	19	18100628	18100628	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:18100628G>A	ENST00000222249.9	+	8	1593	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	425	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	AAACACCAGCGTAAGTTCCTC	0.567																																																	0													90.0	97.0	95.0					19																	18100628		2140	4275	6415	SO:0001583	missense	0			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.1274G>A	19.37:g.18100628G>A	ENSP00000476519:p.Arg425His		Q5KR10|Q6DJU4	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.R425H	ENST00000222249.9	37	c.1274		19	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031533	0.93575	.	.	ENSG00000105642	ENST00000222249	.	.	.	4.72	4.72	0.59763	Calmodulin-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86915	0.2063	9	0.87932	D	0	-8.3402	15.1946	0.73078	0.0:0.0:1.0:0.0	.	425	Q92952	KCNN1_HUMAN	H	442	.	ENSP00000222249:R442H	R	+	2	0	KCNN1	17961628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.217000	0.95160	2.173000	0.68751	0.561000	0.74099	CGT	KCNN1	-	pfam_CaM-bd_dom,superfamily_CaM-bd_dom	ENSG00000105642		0.567	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	KCNN1	HGNC	protein_coding	OTTHUMT00000471896.2	-	0.00	46	0	G	NM_002248		18100628	+1	tier1	-	no_errors	ENST00000222249	ensembl	human	known	74_37	missense	35.94	41	23	SNP	1.000	A
KCNQ2	3785	genome.wustl.edu	37	20	62055548	62055548	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:62055548delG	ENST00000359125.2	-	11	1403	c.1229delC	c.(1228-1230)ccgfs	p.P411fs	KCNQ2_ENST00000354587.3_Frame_Shift_Del_p.P401fs|KCNQ2_ENST00000370224.1_Frame_Shift_Del_p.P401fs|KCNQ2_ENST00000360480.3_Frame_Shift_Del_p.P401fs|KCNQ2_ENST00000359689.1_Frame_Shift_Del_p.P411fs|KCNQ2_ENST00000357249.2_Frame_Shift_Del_p.P411fs|KCNQ2_ENST00000344462.4_Frame_Shift_Del_p.P411fs	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	411					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CGGCTCCGGCGGGGGGTCCTT	0.647																																																	0													27.0	27.0	27.0					20																	62055548		2134	4202	6336	SO:0001589	frameshift_variant	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1229delC	20.37:g.62055548delG	ENSP00000352035:p.Pro411fs		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Frame_Shift_Del	DEL	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.P400fs	ENST00000359125.2	37	c.1199	CCDS13520.1	20																																																																																			KCNQ2	-	NULL	ENSG00000075043		0.647	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1		0.00	12	0	G	NM_172109		62055548	-1	tier1		no_errors	ENST00000354587	ensembl	human	known	74_37	frame_shift_del	26.00	37	13	DEL	1.000	-
KCNQ4	9132	genome.wustl.edu	37	1	41282938	41282938	+	Splice_Site	DEL	T	T	-	rs189892658	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:41282938delT	ENST00000347132.5	+	2	398	c.316delT	c.(316-318)ttt>tt	p.F106fs	KCNQ4_ENST00000509682.2_Splice_Site_p.F106fs	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	106					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TAATTGCAGATTTTTGCTGGT	0.532																																																	0													101.0	95.0	97.0					1																	41282938		2203	4300	6503	SO:0001630	splice_region_variant	0			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.315-1T>-	1.37:g.41282938delT			O96025	Frame_Shift_Del	DEL	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.L107fs	ENST00000347132.5	37	c.316	CCDS456.1	1																																																																																			KCNQ4	-	NULL	ENSG00000117013		0.532	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNQ4	HGNC	protein_coding	OTTHUMT00000020812.1		0.00	73	0	T	NM_004700	Frame_Shift_Del	41282938	+1	tier1		no_errors	ENST00000347132	ensembl	human	known	74_37	frame_shift_del	58.10	44	61	DEL	1.000	-
KCNS2	3788	genome.wustl.edu	37	8	99441109	99441109	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:99441109G>A	ENST00000287042.4	+	2	1252	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	KCNS2_ENST00000521839.1_Missense_Mutation_p.R301Q	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	301					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGGCTGATGCGGATCTTCCGC	0.567																																					Pancreas(138;844 2489 9202 24627)												0													117.0	108.0	111.0					8																	99441109		2203	4300	6503	SO:0001583	missense	0			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.902G>A	8.37:g.99441109G>A	ENSP00000287042:p.Arg301Gln		A8KAN1	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2	p.R301Q	ENST00000287042.4	37	c.902	CCDS6279.1	8	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728150	0.89390	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.99607	-6.27;-6.27	5.83	5.83	0.93111	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99739	0.9897	M	0.92691	3.335	0.52099	D	0.999946	D	0.89917	1.0	D	0.81914	0.995	D	0.97702	1.0185	10	0.87932	D	0	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	301	Q9ULS6	KCNS2_HUMAN	Q	301	ENSP00000287042:R301Q;ENSP00000430712:R301Q	ENSP00000287042:R301Q	R	+	2	0	KCNS2	99510285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	CGG	KCNS2	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000156486		0.567	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS2	HGNC	protein_coding	OTTHUMT00000103134.1	-	0.00	28	0	G	NM_020697		99441109	+1	tier1	-	no_errors	ENST00000287042	ensembl	human	known	74_37	missense	10.96	65	8	SNP	1.000	A
KCNT2	343450	genome.wustl.edu	37	1	196392230	196392230	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:196392230C>T	ENST00000294725.9	-	12	2050	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	KCNT2_ENST00000367431.4_Missense_Mutation_p.E379K|KCNT2_ENST00000367433.5_Missense_Mutation_p.E379K|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000609185.1_Missense_Mutation_p.E379K|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	379					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAACAGGCCTCAGCGTCATCC	0.338																																																	0													61.0	56.0	58.0					1																	196392230		2202	4298	6500	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1135G>A	1.37:g.196392230C>T	ENSP00000294725:p.Glu379Lys		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.E379K	ENST00000294725.9	37	c.1135	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514374	0.64522	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.69175	-0.38;-0.38;-0.38	5.38	5.38	0.77491	NAD(P)-binding domain (1);	0.102055	0.43747	D	0.000535	T	0.58452	0.2123	N	0.26162	0.8	0.80722	D	1	B;B;B;B	0.30605	0.287;0.193;0.007;0.287	B;B;B;B	0.33454	0.052;0.164;0.022;0.052	T	0.54827	-0.8235	10	0.32370	T	0.25	-18.9797	19.4967	0.95075	0.0:1.0:0.0:0.0	.	379;379;379;379	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	K	379;379;200;379	ENSP00000356403:E379K;ENSP00000356401:E379K;ENSP00000294725:E379K	ENSP00000294725:E379K	E	-	1	0	KCNT2	194658853	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	7.776000	0.85560	2.678000	0.91216	0.585000	0.79938	GAG	KCNT2	-	NULL	ENSG00000162687		0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0.00	42	0	C	NM_198503		196392230	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	56.00	22	28	SNP	1.000	T
KCTD13	253980	genome.wustl.edu	37	16	29918228	29918228	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:29918228G>A	ENST00000568000.1	-	6	1956	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	319					cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CCATGAGGACGCTCGTCGTGG	0.617																																																	0													110.0	100.0	103.0					16																	29918228		2197	4300	6497	SO:0001583	missense	0			AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"""polymerase delta-interacting protein 1"", ""TNFAIP1-like"""	608947	"""potassium channel tetramerisation domain containing 13"""			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.955C>T	16.37:g.29918228G>A	ENSP00000455785:p.Arg319Cys		A8K0R5|Q96P93|Q96SA1	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R319C	ENST00000568000.1	37	c.955	CCDS10661.1	16	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893866	0.72639	.	.	ENSG00000174943	ENST00000308768	T	0.61040	0.14	5.2	4.23	0.50019	.	0.129717	0.35739	N	0.003013	T	0.71290	0.3322	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74520	-0.3638	10	0.87932	D	0	-12.0901	14.6298	0.68647	0.0:0.1471:0.8529:0.0	.	319	Q8WZ19	BACD1_HUMAN	C	319	ENSP00000311202:R319C	ENSP00000311202:R319C	R	-	1	0	KCTD13	29825729	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	5.328000	0.65887	1.157000	0.42530	0.467000	0.42956	CGT	KCTD13	-	NULL	ENSG00000174943		0.617	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	KCTD13	HGNC	protein_coding	OTTHUMT00000255162.2	-	0.00	25	0	G	NM_178863		29918228	-1	tier1	-	no_errors	ENST00000308768	ensembl	human	known	74_37	missense	17.14	29	6	SNP	1.000	A
KDELC1	79070	genome.wustl.edu	37	13	103443722	103443722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:103443722delT	ENST00000376004.4	-	5	1067	c.731delA	c.(730-732)aagfs	p.K245fs	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	245						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATTGGATTTCTTTTTTTCCAA	0.418																																																	0													203.0	218.0	213.0					13																	103443722		2203	4300	6503	SO:0001589	frameshift_variant	0			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.731delA	13.37:g.103443722delT	ENSP00000365172:p.Lys245fs		Q53HL3|Q9BVD2	Frame_Shift_Del	DEL	pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.K244fs	ENST00000376004.4	37	c.731	CCDS9504.1	13																																																																																			KDELC1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying	ENSG00000134901		0.418	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC1	HGNC	protein_coding	OTTHUMT00000045699.1		0.00	65	0	T			103443722	-1	tier1		no_errors	ENST00000376004	ensembl	human	known	74_37	frame_shift_del	53.03	31	35	DEL	1.000	-
KDM2A	22992	genome.wustl.edu	37	11	67023823	67023823	+	3'UTR	DEL	A	A	-	rs112132478		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:67023823delA	ENST00000529006.2	+	0	5232				KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_3'UTR|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A						histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TTTGCACTTTAAAAAAAAAAA	0.443																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.*1297A>-	11.37:g.67023823delA			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	RNA	DEL	-	NULL	ENST00000529006.2	37	NULL	CCDS44657.1	11																																																																																			KDM2A	-	-	ENSG00000173120		0.443	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2		0.00	8	0	A	NM_012308		67023823	+1	tier1		no_errors	ENST00000524657	ensembl	human	known	74_37	rna	47.06	9	8	DEL	1.000	-
KEAP1	9817	genome.wustl.edu	37	19	10602788	10602788	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:10602788C>T	ENST00000171111.5	-	3	1337	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	KEAP1_ENST00000393623.2_Missense_Mutation_p.V264I|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	264	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AGCGCCTGGACGTAGAACCGT	0.637																																																	0													63.0	61.0	61.0					19																	10602788		2203	4300	6503	SO:0001583	missense	0			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.790G>A	19.37:g.10602788C>T	ENSP00000171111:p.Val264Ile		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V264I	ENST00000171111.5	37	c.790	CCDS12239.1	19	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748797	0.30955	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.69040	-0.37;-0.37	5.36	4.31	0.51392	BTB/Kelch-associated (2);	0.187315	0.47093	N	0.000252	T	0.43567	0.1253	N	0.08118	0	0.41628	D	0.989001	B	0.02656	0.0	B	0.04013	0.001	T	0.41305	-0.9516	10	0.49607	T	0.09	.	8.78	0.34785	0.0:0.8275:0.0:0.1725	.	264	Q14145	KEAP1_HUMAN	I	264	ENSP00000171111:V264I;ENSP00000377245:V264I	ENSP00000171111:V264I	V	-	1	0	KEAP1	10463788	0.989000	0.36119	0.994000	0.49952	0.451000	0.32288	0.678000	0.25277	2.523000	0.85059	0.313000	0.20887	GTC	KEAP1	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.637	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	-	0.00	37	0	C	NM_012289		10602788	-1	tier1	-	no_errors	ENST00000171111	ensembl	human	known	74_37	missense	36.08	62	35	SNP	0.998	T
KHDC3L	154288	genome.wustl.edu	37	6	74073483	74073483	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:74073483C>T	ENST00000370367.3	+	3	607	c.554C>T	c.(553-555)gCt>gTt	p.A185V		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	185							RNA binding (GO:0003723)										TCTCTCCAGGCTGCCAACAAG	0.657																																																	0													32.0	34.0	33.0					6																	74073483		2203	4300	6503	SO:0001583	missense	0			AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.554C>T	6.37:g.74073483C>T	ENSP00000359392:p.Ala185Val		B2RNW7	Missense_Mutation	SNP	NULL	p.A185V	ENST00000370367.3	37	c.554	CCDS34484.1	6	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551360	0.45383	.	.	ENSG00000203908	ENST00000370367	T	0.54866	0.55	2.57	-1.77	0.07982	.	.	.	.	.	T	0.32763	0.0840	L	0.48642	1.525	0.09310	N	1	D	0.62365	0.991	P	0.53593	0.73	T	0.13019	-1.0525	9	0.59425	D	0.04	.	4.0632	0.09847	0.5332:0.3341:0.0:0.1327	.	185	Q587J8	ECAT1_HUMAN	V	185	ENSP00000359392:A185V	ENSP00000359392:A185V	A	+	2	0	C6orf221	74130204	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.516000	0.35856	-0.439000	0.07222	-0.467000	0.05162	GCT	KHDC3L	-	NULL	ENSG00000203908		0.657	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDC3L	HGNC	protein_coding	OTTHUMT00000041202.3	-	0.00	58	0	C	NM_001017361		74073483	+1	tier1	-	no_errors	ENST00000370367	ensembl	human	known	74_37	missense	52.48	48	53	SNP	0.000	T
KHDRBS3	10656	genome.wustl.edu	37	8	136659489	136659490	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:136659489_136659490delAA	ENST00000355849.5	+	0	1613_1614				KHDRBS3_ENST00000520981.1_3'UTR	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3						regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ACCTGGGCAGAAAAAAAAAAAA	0.252																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.*163AA>-	8.37:g.136659499_136659500delAA			Q6NUL8|Q9UPA8	RNA	DEL	-	NULL	ENST00000355849.5	37	NULL	CCDS6374.1	8																																																																																			KHDRBS3	-	-	ENSG00000131773		0.252	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	HGNC	protein_coding	OTTHUMT00000377529.1		0.00	18	0	AA			136659490	+1	tier1		no_errors	ENST00000518728	ensembl	human	putative	74_37	rna	34.21	25	13	DEL	1.000:1.000	-
KHNYN	23351	genome.wustl.edu	37	14	24902031	24902031	+	Missense_Mutation	SNP	C	C	T	rs200900567		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:24902031C>T	ENST00000251343.5	+	4	1592	c.1453C>T	c.(1453-1455)Cgc>Tgc	p.R485C	KHNYN_ENST00000556842.1_Missense_Mutation_p.R485C|KHNYN_ENST00000554268.1_5'UTR|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.R485C			O15037	KHNYN_HUMAN	KH and NYN domain containing	485							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCCTCAGTGGCGCTTCAGTAA	0.532											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													178.0	152.0	160.0					14																	24902031		2203	4300	6503	SO:0001583	missense	0			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1453C>T	14.37:g.24902031C>T	ENSP00000251343:p.Arg485Cys	774	Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.R485C	ENST00000251343.5	37	c.1453	CCDS32058.1	14	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237851	0.58886	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.50813	0.73;0.73;0.73	4.98	4.98	0.66077	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.69531	0.3121	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.73649	-0.3916	10	0.87932	D	0	.	15.7821	0.78269	0.0:1.0:0.0:0.0	.	526;485	D3DS77;O15037	.;KHNYN_HUMAN	C	485	ENSP00000251343:R485C;ENSP00000451106:R485C;ENSP00000450799:R485C	ENSP00000251343:R485C	R	+	1	0	KHNYN	23971871	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	0.460000	0.21924	2.585000	0.87301	0.462000	0.41574	CGC	KHNYN	-	pfam_RNase_Zc3h12	ENSG00000100441		0.532	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KHNYN	HGNC	protein_coding	OTTHUMT00000412928.1	-	0.00	32	0	C			24902031	+1	tier1	rs200900567	no_errors	ENST00000251343	ensembl	human	known	74_37	missense	52.75	43	48	SNP	1.000	T
KIAA0195	9772	genome.wustl.edu	37	17	73487189	73487189	+	Silent	SNP	G	G	A	rs142602580		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:73487189G>A	ENST00000314256.7	+	12	1582	c.1188G>A	c.(1186-1188)acG>acA	p.T396T	KIAA0195_ENST00000579208.1_Silent_p.T47T|KIAA0195_ENST00000375248.5_Silent_p.T406T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	396						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCGCCAACGCTGAGCCACA	0.637																																																	0													48.0	46.0	47.0					17																	73487189		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1188G>A	17.37:g.73487189G>A			O75536|Q86XF1	Silent	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.T396	ENST00000314256.7	37	c.1188	CCDS32732.1	17																																																																																			KIAA0195	-	NULL	ENSG00000177728		0.637	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	-	0.00	58	0	G	NM_014738		73487189	+1	tier1	-	no_errors	ENST00000314256	ensembl	human	known	74_37	silent	31.25	55	25	SNP	0.005	A
KIAA0907	22889	genome.wustl.edu	37	1	155903598	155903598	+	Silent	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:155903598G>T	ENST00000368321.3	-	2	104	c.81C>A	c.(79-81)ctC>ctA	p.L27L	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Silent_p.L27L|KIAA0907_ENST00000368319.3_Silent_p.L27L	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	27							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCGGGAGGAAGAGAAGTGGGG	0.587																																																	0													21.0	27.0	25.0					1																	155903598		2201	4297	6498	SO:0001819	synonymous_variant	0			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.81C>A	1.37:g.155903598G>T			O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Silent	SNP	NULL	p.L27	ENST00000368321.3	37	c.81	CCDS30885.1	1																																																																																			KIAA0907	-	NULL	ENSG00000132680		0.587	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	-	0.00	24	0	G	NM_014949		155903598	-1	tier1	-	no_errors	ENST00000368321	ensembl	human	known	74_37	silent	44.74	21	17	SNP	1.000	T
KIAA1109	84162	genome.wustl.edu	37	4	123131023	123131023	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:123131023A>T	ENST00000264501.4	+	19	2355	c.1982A>T	c.(1981-1983)gAt>gTt	p.D661V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.D661V|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.D661V			Q2LD37	K1109_HUMAN	KIAA1109	661					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTACAATTGATTATACATGG	0.348																																																	0													116.0	109.0	111.0					4																	123131023		1879	4122	6001	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1982A>T	4.37:g.123131023A>T	ENSP00000264501:p.Asp661Val		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.D661V	ENST00000264501.4	37	c.1982	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.190714|4.190714	0.78789|0.78789	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.24350|.	2.45;2.45;1.86|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.118777|.	0.30277|.	U|.	0.009990|.	T|.	0.60983|.	0.2311|.	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D;P|.	0.76494|.	0.999;0.954|.	D;P|.	0.68192|.	0.956;0.617|.	T|.	0.57027|.	-0.7881|.	10|.	0.51188|.	T|.	0.08|.	.|.	16.2578|16.2578	0.82526|0.82526	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	661;661|.	Q2LD37-5;Q2LD37|.	.;K1109_HUMAN|.	V|C	661|493	ENSP00000264501:D661V;ENSP00000373390:D661V;ENSP00000389925:D661V|.	ENSP00000264501:D661V|.	D|X	+|+	2|3	0|0	KIAA1109|KIAA1109	123350473|123350473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.206000|9.206000	0.95056|0.95056	2.245000|2.245000	0.73994|0.73994	0.482000|0.482000	0.46254|0.46254	GAT|TGA	KIAA1109	-	NULL	ENSG00000138688		0.348	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0.00	60	0	A	NM_020797		123131023	+1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	T
KIAA1467	57613	genome.wustl.edu	37	12	13232776	13232776	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:13232776C>T	ENST00000197268.8	+	12	1816	c.1696C>T	c.(1696-1698)Cca>Tca	p.P566S		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	566						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GACAACAGGGCCAAGCTCCGA	0.527																																																	0													93.0	82.0	86.0					12																	13232776		2203	4300	6503	SO:0001583	missense	0			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1696C>T	12.37:g.13232776C>T	ENSP00000197268:p.Pro566Ser		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.P566S	ENST00000197268.8	37	c.1696	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726498	0.30593	.	.	ENSG00000084444	ENST00000197268	T	0.42131	0.98	5.51	4.6	0.57074	.	0.338850	0.35291	N	0.003311	T	0.37210	0.0995	L	0.50333	1.59	0.09310	N	1	B	0.27971	0.196	B	0.30495	0.116	T	0.37934	-0.9684	10	0.62326	D	0.03	-13.6852	8.5127	0.33226	0.2951:0.5515:0.1534:0.0	.	566	A2RU67	K1467_HUMAN	S	566	ENSP00000197268:P566S	ENSP00000197268:P566S	P	+	1	0	KIAA1467	13124043	0.635000	0.27199	0.096000	0.21009	0.892000	0.51952	1.241000	0.32743	1.258000	0.44101	0.603000	0.83216	CCA	KIAA1467	-	NULL	ENSG00000084444		0.527	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	-	0.00	55	0	C	NM_020853		13232776	+1	tier1	-	no_errors	ENST00000197268	ensembl	human	known	74_37	missense	44.79	53	43	SNP	0.006	T
KIAA1468	57614	genome.wustl.edu	37	18	59922664	59922664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:59922664C>T	ENST00000398130.2	+	13	2081	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	KIAA1468_ENST00000256858.6_Nonsense_Mutation_p.R617*	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	617										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCCAGAAAGACGACTGCTTGT	0.343																																																	0													102.0	111.0	108.0					18																	59922664		2203	4300	6503	SO:0001587	stop_gained	0			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1849C>T	18.37:g.59922664C>T	ENSP00000381198:p.Arg617*			Nonsense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.R617*	ENST00000398130.2	37	c.1849	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	C	40	8.063510	0.98635	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	6.06	3.26	0.37387	.	0.051729	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.3521	14.1336	0.65270	0.4171:0.5829:0.0:0.0	.	.	.	.	X	617	.	.	R	+	1	2	KIAA1468	58073644	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.495000	0.35627	0.413000	0.25759	-0.182000	0.12963	CGA	KIAA1468	-	superfamily_ARM-type_fold	ENSG00000134444		0.343	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	-	0.00	15	0	C	NM_020854		59922664	+1	tier1	-	no_errors	ENST00000256858	ensembl	human	known	74_37	nonsense	52.38	10	11	SNP	1.000	T
KIAA1549L	25758	genome.wustl.edu	37	11	33677558	33677558	+	Splice_Site	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:33677558G>T	ENST00000321505.4	+	17	5050	c.4870G>T	c.(4870-4872)Gct>Tct	p.A1624S	KIAA1549L_ENST00000389726.3_Splice_Site_p.A1630S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1624						integral component of membrane (GO:0016021)											TCTTTCACAGGCTTACAGGTT	0.552																																																	0													65.0	67.0	67.0					11																	33677558		1984	4162	6146	SO:0001630	splice_region_variant	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4870-1G>T	11.37:g.33677558G>T			B0QYU0	Missense_Mutation	SNP	NULL	p.A1630S	ENST00000321505.4	37	c.4888	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259932	0.39995	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000010	T	0.61337	0.2339	L	0.27053	0.805	0.44539	D	0.997497	D	0.71674	0.998	D	0.66847	0.947	T	0.57585	-0.7786	8	.	.	.	-18.5825	13.0533	0.58966	0.0736:0.0:0.9264:0.0	.	1630	E9PAT2	.	S	1624;1630;1463	.	.	A	+	1	0	C11orf41	33634134	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	4.623000	0.61247	2.746000	0.94184	0.655000	0.94253	GCT	KIAA1549L	-	NULL	ENSG00000110427		0.552	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	-	0.00	45	0	G	NM_012194	Missense_Mutation	33677558	+1	tier1	-	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	31.71	56	26	SNP	1.000	T
KIAA1841	84542	genome.wustl.edu	37	2	61315639	61315640	+	Intron	DEL	TA	TA	-	rs377349663|rs375991537	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:61315639_61315640delTA	ENST00000402291.1	+	10	1329				KIAA1841_ENST00000453873.1_Intron|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Intron|KIAA1841_ENST00000356719.2_Intron	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841											breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			tgtatttttgtatatatatata	0.391																																																	0									,	335,63,3410		22,3,288,4,52,1535					,	-1.2	0.0			16	699,131,6732		46,2,605,7,115,3006	no	intron,intron	KIAA1841	NM_032506.2,NM_001129993.1	,	68,5,893,11,167,4541	A1A1,A1A2,A1R,A2A2,A2R,RR		10.9759,10.4517,10.8004	,	,		1034,194,10142				SO:0001627	intron_variant	0			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1088+36TA>-	2.37:g.61315649_61315650delTA			Q49AF0|Q6ZND0|Q96JI6	RNA	DEL	-	NULL	ENST00000402291.1	37	NULL	CCDS46296.1	2																																																																																			KIAA1841	-	-	ENSG00000162929		0.391	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000325477.1		0.00	13	0	TA	NM_032506		61315640	+1	tier1		no_errors	ENST00000482513	ensembl	human	known	74_37	rna	35.29	11	6	DEL	0.001:0.000	-
KIAA2018	205717	genome.wustl.edu	37	3	113377481	113377482	+	Frame_Shift_Ins	INS	-	-	T	rs78597857		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:113377481_113377482insT	ENST00000478658.1	-	5	3064_3065	c.3047_3048insA	c.(3046-3048)aacfs	p.N1016fs	KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.N1016fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1016						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.N1016fs*8(1)|p.N1016fs*9(1)|p.N1016fs*23(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTTCTGAGGGTTTTTTTTTTT	0.366																																																	3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	ovary(3)																																								SO:0001589	frameshift_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3048dupA	3.37:g.113377492_113377492dupT	ENSP00000420721:p.Asn1016fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N1016fs	ENST00000478658.1	37	c.3048_3047	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.366	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0.00	25	0	-	NM_001009899		113377482	-1	tier1		no_errors	ENST00000316407	ensembl	human	known	74_37	frame_shift_ins	15.62	27	5	INS	0.174:0.827	T
KIAA2018	205717	genome.wustl.edu	37	3	113377482	113377482	+	Frame_Shift_Del	DEL	T	T	-	rs78597857		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:113377482delT	ENST00000478658.1	-	5	3064	c.3047delA	c.(3046-3048)aacfs	p.N1016fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.N1016fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1016						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.N1016fs*8(1)|p.N1016fs*9(1)|p.N1016fs*23(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTTCTGAGGGTTTTTTTTTTT	0.363																																																	3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	ovary(3)											99.0	91.0	93.0					3																	113377482		1809	4067	5876	SO:0001589	frameshift_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3047delA	3.37:g.113377482delT	ENSP00000420721:p.Asn1016fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N1016fs	ENST00000478658.1	37	c.3047	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.363	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0.00	25	0	T	NM_001009899		113377482	-1	tier1		no_errors	ENST00000316407	ensembl	human	known	74_37	frame_shift_del	22.58	24	7	DEL	0.827	-
KIAA2018	205717	genome.wustl.edu	37	3	113376116	113376116	+	Silent	SNP	C	C	T	rs112313093|rs59601191		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:113376116C>T	ENST00000478658.1	-	5	4430	c.4413G>A	c.(4411-4413)caG>caA	p.Q1471Q	KIAA2018_ENST00000316407.4_Silent_p.Q1471Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1471	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gctgttgctgctgctgctgct	0.498																																																	0													63.0	72.0	69.0					3																	113376116		2187	4278	6465	SO:0001819	synonymous_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4413G>A	3.37:g.113376116C>T			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Q1471	ENST00000478658.1	37	c.4413	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0.00	29	0	C	NM_001009899		113376116	-1			no_errors	ENST00000316407	ensembl	human	known	74_37	silent	21.88	25	7	SNP	1.000	T
KIAA2018	205717	genome.wustl.edu	37	3	113376122	113376122	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:113376122C>T	ENST00000478658.1	-	5	4424	c.4407G>A	c.(4405-4407)caG>caA	p.Q1469Q	KIAA2018_ENST00000316407.4_Silent_p.Q1469Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1469	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gctgctgctgctgctgctgct	0.498																																																	0													55.0	66.0	62.0					3																	113376122		2188	4278	6466	SO:0001819	synonymous_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4407G>A	3.37:g.113376122C>T			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Q1469	ENST00000478658.1	37	c.4407	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0.00	38	0	C	NM_001009899		113376122	-1			no_errors	ENST00000316407	ensembl	human	known	74_37	silent	11.36	39	5	SNP	1.000	T
KIF20B	9585	genome.wustl.edu	37	10	91518600	91518600	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:91518600T>G	ENST00000371728.3	+	27	4706	c.4641T>G	c.(4639-4641)atT>atG	p.I1547M	KIF20B_ENST00000394289.2_Missense_Mutation_p.I1547M|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.I1577M|KIF20B_ENST00000260753.4_Missense_Mutation_p.I1507M	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1547					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATAATGAAATTGAACAACTAA	0.323																																																	0													61.0	60.0	61.0					10																	91518600		2202	4299	6501	SO:0001583	missense	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4641T>G	10.37:g.91518600T>G	ENSP00000360793:p.Ile1547Met		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I1577M	ENST00000371728.3	37	c.4731		10	.	.	.	.	.	.	.	.	.	.	T	16.45	3.125470	0.56721	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.91	-0.246	0.13022	.	0.259107	0.27340	N	0.019802	T	0.66247	0.2770	M	0.68952	2.095	0.33796	D	0.626075	D;D	0.89917	1.0;1.0	D;D	0.72338	0.95;0.977	T	0.69661	-0.5085	10	0.72032	D	0.01	-7.8242	5.686	0.17803	0.1542:0.3721:0.0:0.4738	.	1547;1507	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	M	1507;1577;1547;1547	ENSP00000260753:I1507M;ENSP00000411545:I1577M;ENSP00000377830:I1547M;ENSP00000360793:I1547M	ENSP00000260753:I1507M	I	+	3	3	KIF20B	91508580	0.997000	0.39634	0.098000	0.21074	0.956000	0.61745	0.315000	0.19451	-0.058000	0.13177	0.533000	0.62120	ATT	KIF20B	-	NULL	ENSG00000138182		0.323	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	-	0.00	28	0	T	NM_016195		91518600	+1	tier1	-	no_errors	ENST00000416354	ensembl	human	known	74_37	missense	46.15	14	12	SNP	0.320	G
KIF5C	3800	genome.wustl.edu	37	2	149854978	149854978	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:149854978G>A	ENST00000435030.1	+	19	2533	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R627Q|KIF5C_ENST00000397413.1_Missense_Mutation_p.R490Q			O60282	KIF5C_HUMAN	kinesin family member 5C	722					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TCCAGACTCCGAGACGAAATT	0.572																																																	0													22.0	26.0	25.0					2																	149854978		2061	4203	6264	SO:0001583	missense	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2165G>A	2.37:g.149854978G>A	ENSP00000393379:p.Arg722Gln		O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R722Q	ENST00000435030.1	37	c.2165		2	.	.	.	.	.	.	.	.	.	.	G	36	5.831598	0.97003	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.86769	-2.17;-2.17;-2.17	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	D	0.93979	0.8072	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93199	0.6590	8	.	.	.	.	20.0278	0.97529	0.0:0.0:1.0:0.0	.	722	O60282	KIF5C_HUMAN	Q	722;627;625;490	ENSP00000393379:R722Q;ENSP00000410115:R627Q;ENSP00000380560:R490Q	.	R	+	2	0	KIF5C	149563224	1.000000	0.71417	0.928000	0.36995	0.850000	0.48378	9.864000	0.99589	2.717000	0.92951	0.650000	0.86243	CGA	KIF5C	-	NULL	ENSG00000168280		0.572	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	-	0.00	31	0	G	NM_004522		149854978	+1	tier1	-	no_errors	ENST00000435030	ensembl	human	known	74_37	missense	42.86	40	30	SNP	1.000	A
KIR2DL3	3804	genome.wustl.edu	37	19	55263121	55263121	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:55263121G>A	ENST00000342376.3	+	6	767	c.736G>A	c.(736-738)Gtt>Att	p.V246I	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	246					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		ACACCTGCATGTTCTGATTGG	0.443																																																	0													172.0	148.0	157.0					19																	55263121		1421	2577	3998	SO:0001583	missense	0			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.736G>A	19.37:g.55263121G>A	ENSP00000342215:p.Val246Ile		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.V246I	ENST00000342376.3	37	c.736	CCDS33107.1	19	.	.	.	.	.	.	.	.	.	.	g	0.025	-1.379275	0.01204	.	.	ENSG00000243772	ENST00000342376	T	0.00472	7.19	0.635	-1.27	0.09347	.	.	.	.	.	T	0.00552	0.0018	L	0.28694	0.88	0.09310	N	1	B;P;B;B	0.41597	0.0;0.756;0.002;0.002	B;P;B;B	0.61722	0.002;0.893;0.004;0.004	T	0.50092	-0.8868	8	0.41790	T	0.15	.	.	.	.	.	246;148;246;246	E3NZD7;P43628-2;P43628;E3NZD8	.;.;KI2L3_HUMAN;.	I	246	ENSP00000342215:V246I	ENSP00000342215:V246I	V	+	1	0	KIR2DL3	59954933	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	-0.317000	0.08060	-0.898000	0.03906	-0.706000	0.03657	GTT	KIR2DL3	-	NULL	ENSG00000243772		0.443	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1		0.00	182	0	G			55263121	+1			no_errors	ENST00000342376	ensembl	human	known	74_37	missense	14.29	137	23	SNP	0.005	A
KIR2DL3	3804	genome.wustl.edu	37	19	55263158	55263160	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:55263158_55263160delTCC	ENST00000342376.3	+	6	804_806	c.773_775delTCC	c.(772-777)atcctc>atc	p.L261del	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	261					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		atcctcttcatcctcctcctctt	0.498																																																	0										14,3944		6,2,1971						-1.3	0.0			142	21,7701		2,17,3842	no	coding	KIR2DL3	NM_015868.2		8,19,5813	A1A1,A1R,RR		0.272,0.3537,0.2997				35,11645				SO:0001651	inframe_deletion	0			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.773_775delTCC	19.37:g.55263164_55263166delTCC	ENSP00000342215:p.Leu261del		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	In_Frame_Del	DEL	pfam_Immunoglobulin,smart_Ig_sub	p.L261in_frame_del	ENST00000342376.3	37	c.773_775	CCDS33107.1	19																																																																																			KIR2DL3	-	NULL	ENSG00000243772		0.498	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1		0.00	193	0	TCC			55263160	+1			no_errors	ENST00000342376	ensembl	human	known	74_37	in_frame_del	7.27	153	12	DEL	0.000:0.001:0.002	0
KIR3DL2	3812	genome.wustl.edu	37	19	55361941	55361941	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:55361941C>T	ENST00000326321.3	+	1	44	c.11C>T	c.(10-12)aCg>aTg	p.T4M	KIR3DL1_ENST00000402254.2_Intron|KIR2DS4_ENST00000339924.8_RNA|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.T4M	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	4					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ATGTCGCTCACGGTCGTCAGC	0.602																																																	0													42.0	57.0	53.0					19																	55361941		729	1866	2595	SO:0001583	missense	0			L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.11C>T	19.37:g.55361941C>T	ENSP00000325525:p.Thr4Met		Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.T4M	ENST00000326321.3	37	c.11	CCDS12906.1	19	.	.	.	.	.	.	.	.	.	.	N	0	-2.611732	0.00120	.	.	ENSG00000240403	ENST00000326321;ENST00000270442	T;T	0.00481	7.11;7.13	0.868	-0.429	0.12303	.	.	.	.	.	T	0.00144	0.0004	N	0.01464	-0.85	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.08055	0.003;0.002	T	0.33599	-0.9862	9	0.02654	T	1	.	4.5217	0.11962	0.0:0.5104:0.0:0.4896	.	4;4	Q95366;P43630	.;KI3L2_HUMAN	M	4	ENSP00000325525:T4M;ENSP00000270442:T4M	ENSP00000270442:T4M	T	+	2	0	KIR3DL2	60053753	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.827000	0.00356	-1.050000	0.03230	-1.461000	0.01025	ACG	KIR3DL2	-	NULL	ENSG00000240403		0.602	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIR3DL2	HGNC	protein_coding	OTTHUMT00000141241.1	-	0.00	38	0	C			55361941	+1	tier1	-	no_errors	ENST00000326321	ensembl	human	known	74_37	missense	75.28	22	67	SNP	0.001	T
KLHDC8B	200942	genome.wustl.edu	37	3	49210244	49210244	+	Frame_Shift_Del	DEL	C	C	-	rs201475255	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:49210244delC	ENST00000332780.2	+	2	251	c.42delC	c.(40-42)ttcfs	p.F14fs	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	14						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAAGTGTTCCCCCCCATGC	0.637																																																	0													54.0	52.0	53.0					3																	49210244		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.42delC	3.37:g.49210244delC	ENSP00000327468:p.Phe14fs			Frame_Shift_Del	DEL	pfam_Kelch_1,smart_Kelch_1	p.M17fs	ENST00000332780.2	37	c.42	CCDS2791.1	3																																																																																			KLHDC8B	-	NULL	ENSG00000185909		0.637	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC8B	HGNC	protein_coding	OTTHUMT00000345974.1		0.00	39	0	C	NM_173546		49210244	+1	tier1		no_errors	ENST00000332780	ensembl	human	known	74_37	frame_shift_del	28.57	45	18	DEL	1.000	-
KLF15	28999	genome.wustl.edu	37	3	126071107	126071107	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:126071107A>G	ENST00000296233.3	-	2	889	c.659T>C	c.(658-660)tTg>tCg	p.L220S	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	220					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GATCTGCAGCAACACTGGGAT	0.677																																																	0													26.0	24.0	24.0					3																	126071107		2201	4300	6501	SO:0001583	missense	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.659T>C	3.37:g.126071107A>G	ENSP00000296233:p.Leu220Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L220S	ENST00000296233.3	37	c.659	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870358	0.51588	.	.	ENSG00000163884	ENST00000296233	T	0.08546	3.08	4.44	4.44	0.53790	.	0.343079	0.30483	N	0.009532	T	0.06735	0.0172	L	0.28274	0.84	0.40187	D	0.977364	P	0.42827	0.791	B	0.37650	0.255	T	0.37244	-0.9714	10	0.45353	T	0.12	.	12.2775	0.54744	1.0:0.0:0.0:0.0	.	220	Q9UIH9	KLF15_HUMAN	S	220	ENSP00000296233:L220S	ENSP00000296233:L220S	L	-	2	0	KLF15	127553797	1.000000	0.71417	0.994000	0.49952	0.759000	0.43091	9.215000	0.95146	1.950000	0.56595	0.402000	0.26972	TTG	KLF15	-	NULL	ENSG00000163884		0.677	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	-	0.00	19	0	A	NM_014079		126071107	-1	tier1	-	no_errors	ENST00000296233	ensembl	human	known	74_37	missense	44.00	28	22	SNP	0.995	G
KLHL20	27252	genome.wustl.edu	37	1	173703092	173703092	+	Silent	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:173703092C>A	ENST00000209884.4	+	3	400	c.264C>A	c.(262-264)gcC>gcA	p.A88A	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	88	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TTTTGTCAGCCTGTAGTCCCT	0.483																																					GBM(159;862 2695 6559 23041)												0													135.0	120.0	125.0					1																	173703092		2203	4300	6503	SO:0001819	synonymous_variant	0			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.264C>A	1.37:g.173703092C>A			B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A88	ENST00000209884.4	37	c.264	CCDS1310.1	1																																																																																			KLHL20	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000076321		0.483	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL20	HGNC	protein_coding	OTTHUMT00000097582.1	-	0.00	91	0	C	NM_014458		173703092	+1	tier1	-	no_errors	ENST00000209884	ensembl	human	known	74_37	silent	51.52	48	51	SNP	1.000	A
KLHL25	64410	genome.wustl.edu	37	15	86312008	86312008	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:86312008G>A	ENST00000337975.5	-	2	1308	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.T345M	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	345					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCTGCCCCCCGTCACATAGAC	0.642																																																	0													34.0	31.0	32.0					15																	86312008		2202	4299	6501	SO:0001583	missense	0				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1034C>T	15.37:g.86312008G>A	ENSP00000336800:p.Thr345Met		B2RDH2|B3KRT7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T345M	ENST00000337975.5	37	c.1034	CCDS10339.1	15	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060282	0.55432	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.77620	-1.11;-1.11	5.39	5.39	0.77823	Kelch-type beta propeller (1);	0.109380	0.64402	D	0.000010	T	0.81781	0.4895	N	0.25201	0.72	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84484	0.0607	10	0.87932	D	0	.	18.1417	0.89642	0.0:0.0:1.0:0.0	.	345	Q9H0H3	ENC2_HUMAN	M	345;314;345	ENSP00000336800:T345M;ENSP00000444739:T345M	ENSP00000336800:T345M	T	-	2	0	KLHL25	84113012	1.000000	0.71417	0.939000	0.37840	0.387000	0.30353	9.869000	0.99810	2.537000	0.85549	0.462000	0.41574	ACG	KLHL25	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000183655		0.642	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL25	HGNC	protein_coding	OTTHUMT00000309023.1	-	0.00	50	0	G	NM_022480		86312008	-1	tier1	-	no_errors	ENST00000337975	ensembl	human	known	74_37	missense	78.26	15	54	SNP	1.000	A
KLHL30	377007	genome.wustl.edu	37	2	239049639	239049639	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:239049639G>A	ENST00000409223.1	+	2	351	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	KLHL30_ENST00000305959.4_Missense_Mutation_p.A64T			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	82	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CGTGGAGCCCGCCGTGGTGGG	0.672																																																	0													93.0	109.0	103.0					2																	239049639		2177	4254	6431	SO:0001583	missense	0				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.244G>A	2.37:g.239049639G>A	ENSP00000386389:p.Ala82Thr		Q6ZUS1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A82T	ENST00000409223.1	37	c.244	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552453	0.45487	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.66995	-0.24;-0.24	5.75	4.86	0.63082	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.174508	0.50627	D	0.000111	T	0.52948	0.1766	N	0.25332	0.735	0.09310	N	1	P	0.50443	0.935	P	0.44422	0.449	T	0.47355	-0.9124	10	0.09338	T	0.73	.	14.1721	0.65517	0.0749:0.0:0.9251:0.0	.	82	Q0D2K2	KLH30_HUMAN	T	82;64	ENSP00000386389:A82T;ENSP00000302386:A64T	ENSP00000302386:A64T	A	+	1	0	KLHL30	238714378	0.011000	0.17503	0.232000	0.24009	0.206000	0.24218	1.786000	0.38694	2.720000	0.93068	0.655000	0.94253	GCC	KLHL30	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000168427		0.672	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1	-	0.00	39	0	G	NM_198582		239049639	+1	tier1	-	no_errors	ENST00000409223	ensembl	human	known	74_37	missense	48.21	28	27	SNP	0.076	A
KLHL36	79786	genome.wustl.edu	37	16	84695293	84695293	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:84695293C>T	ENST00000564996.1	+	5	1546	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	KLHL36_ENST00000258157.5_Missense_Mutation_p.R406W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	469					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTACGACCACCGGACAGACGT	0.642																																																	0													78.0	74.0	75.0					16																	84695293		2199	4300	6499	SO:0001583	missense	0			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1405C>T	16.37:g.84695293C>T	ENSP00000456743:p.Arg469Trp		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R469W	ENST00000564996.1	37	c.1405	CCDS10948.1	16	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976575	0.74360	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.67698	-0.28	5.66	4.72	0.59763	Kelch-type beta propeller (1);	0.187395	0.48767	N	0.000178	T	0.78629	0.4313	M	0.71036	2.16	0.24255	N	0.995303	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.818	T	0.72316	-0.4330	10	0.72032	D	0.01	.	13.616	0.62108	0.0:0.926:0.0:0.074	.	406;469	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	W	469;406	ENSP00000258157:R406W	ENSP00000258157:R406W	R	+	1	2	KLHL36	83252794	0.964000	0.33143	0.985000	0.45067	0.985000	0.73830	2.011000	0.40922	1.398000	0.46701	0.655000	0.94253	CGG	KLHL36	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000135686		0.642	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL36	HGNC	protein_coding	OTTHUMT00000269084.2	-	0.00	28	0	C			84695293	+1	tier1	-	no_errors	ENST00000564996	ensembl	human	known	74_37	missense	49.02	26	25	SNP	0.977	T
KLKP1	606293	genome.wustl.edu	37	19	51391542	51391543	+	RNA	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:51391542_51391543insT	ENST00000600104.1	-	0	374_375							Q107X0	KRIP1_HUMAN	kallikrein pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAAGTTAGCAGTTTTTTCAGCC	0.505																																																	0																																												0			AY302756		19q13.33	2014-03-18			ENSG00000197588	ENSG00000197588		"""Kallikreins"""	21260	pseudogene	pseudogene	"""kallikrein 31 pseudogene"""					15498522, 16541416, 18196551	Standard	NR_002948		Approved	YKLK1, PsiKLK1, KLK31P	uc002ptw.3	Q107X0	OTTHUMG00000183118		19.37:g.51391548_51391548dupT				RNA	INS	-	NULL	ENST00000600104.1	37	NULL		19																																																																																			KLKP1	-	-	ENSG00000197588		0.505	KLKP1-002	KNOWN	basic	processed_transcript	KLKP1	HGNC	pseudogene	OTTHUMT00000465166.1		0.00	71	0	-	NG_005220		51391543	-1	tier1		no_errors	ENST00000600104	ensembl	human	known	74_37	rna	56.00	33	42	INS	0.001:0.002	T
KMT2A	4297	genome.wustl.edu	37	11	118343390	118343390	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:118343390A>G	ENST00000389506.5	+	3	1516	c.1516A>G	c.(1516-1518)Acc>Gcc	p.T506A	KMT2A_ENST00000534358.1_Missense_Mutation_p.T506A|KMT2A_ENST00000354520.4_Missense_Mutation_p.T506A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	506					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GCGGAGCGATACCCCTGAAGT	0.502																																																	0													109.0	115.0	113.0					11																	118343390		2200	4296	6496	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1516A>G	11.37:g.118343390A>G	ENSP00000374157:p.Thr506Ala		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.T506A	ENST00000389506.5	37	c.1516	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	A	5.746	0.322137	0.10900	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	D;T;D;D	0.82344	-1.59;3.51;-1.6;-1.57	5.08	3.95	0.45737	.	0.260820	0.39475	N	0.001346	T	0.69788	0.3150	N	0.19112	0.55	0.38057	D	0.935962	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.09377	0.004;0.004;0.001	T	0.66069	-0.6015	10	0.59425	D	0.04	.	8.29	0.31952	0.8459:0.0:0.1541:0.0	.	506;506;539	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	A	506;539;506;506	ENSP00000436786:T506A;ENSP00000432391:T539A;ENSP00000374157:T506A;ENSP00000346516:T506A	ENSP00000346516:T506A	T	+	1	0	MLL	117848600	0.998000	0.40836	0.789000	0.31954	0.989000	0.77384	3.666000	0.54540	0.895000	0.36342	0.402000	0.26972	ACC	KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0.00	12	0	A	NM_005933		118343390	+1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.903	G
KMT2D	8085	genome.wustl.edu	37	12	49420213	49420213	+	Missense_Mutation	SNP	C	C	T	rs267607237		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:49420213C>T	ENST00000301067.7	-	48	15535	c.15536G>A	c.(15535-15537)cGt>cAt	p.R5179H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5179	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.		R -> H (in KABUK1). {ECO:0000269|PubMed:20711175}.		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.R4909L(1)|p.R5179L(1)									GCCCCCCACACGGAACATGTG	0.592																																																	2	Substitution - Missense(2)	lung(2)											40.0	42.0	41.0					12																	49420213		2121	4224	6345	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.15536G>A	12.37:g.49420213C>T	ENSP00000301067:p.Arg5179His		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.R5179H	ENST00000301067.7	37	c.15536	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446574	0.43429	.	.	ENSG00000167548	ENST00000301067	D	0.82255	-1.59	5.12	4.23	0.50019	.	0.000000	0.35349	N	0.003273	T	0.82079	0.4959	M	0.88450	2.955	0.58432	D	0.999994	P	0.44659	0.84	B	0.30495	0.116	D	0.85064	0.0936	10	0.87932	D	0	.	12.7397	0.57243	0.0:0.9182:0.0:0.0818	.	5179	O14686	MLL2_HUMAN	H	5179	ENSP00000301067:R5179H	ENSP00000301067:R5179H	R	-	2	0	MLL2	47706480	1.000000	0.71417	0.860000	0.33809	0.990000	0.78478	7.818000	0.86416	1.295000	0.44724	0.655000	0.94253	CGT	KMT2D	-	NULL	ENSG00000167548		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0.00	18	0	C			49420213	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.998	T
KMT2E	55904	genome.wustl.edu	37	7	104731836	104731836	+	Intron	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:104731836G>T	ENST00000311117.3	+	15	2267				KMT2E_ENST00000476671.1_Missense_Mutation_p.W599C|KMT2E_ENST00000334914.7_Intron|KMT2E_ENST00000334877.4_Intron|KMT2E_ENST00000257745.4_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CCTTTACATGGGCTTTTACAT	0.368																																																	0																																										SO:0001627	intron_variant	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1722+75G>T	7.37:g.104731836G>T			B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.W599C	ENST00000311117.3	37	c.1797	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	G	9.754	1.168206	0.21621	.	.	ENSG00000005483	ENST00000476671	D	0.93859	-3.3	5.11	2.3	0.28687	.	.	.	.	.	D	0.88562	0.6470	.	.	.	0.09310	N	0.999992	P	0.34546	0.456	B	0.36504	0.226	T	0.77127	-0.2702	7	.	.	.	.	8.6318	0.33924	0.1395:0.1253:0.7352:0.0	.	599	Q8IZD2-3	.	C	599	ENSP00000417888:W599C	.	W	+	3	0	MLL5	104519072	0.051000	0.20477	0.001000	0.08648	0.040000	0.13550	1.639000	0.37176	0.264000	0.21851	-0.244000	0.11960	TGG	KMT2E	-	NULL	ENSG00000005483		0.368	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1	-	0.00	85	0	G			104731836	+1	tier1	-	no_errors	ENST00000476671	ensembl	human	known	74_37	missense	24.88	157	52	SNP	0.002	T
KNTC1	9735	genome.wustl.edu	37	12	123036051	123036051	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:123036051G>A	ENST00000333479.7	+	15	1354	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	KNTC1_ENST00000450485.2_Missense_Mutation_p.E356K	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	393					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATGTCTTACGGAAGCTTTACC	0.284																																																	0													67.0	65.0	66.0					12																	123036051		1802	4056	5858	SO:0001583	missense	0				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1177G>A	12.37:g.123036051G>A	ENSP00000328236:p.Glu393Lys		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.E393K	ENST00000333479.7	37	c.1177	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841194	0.71488	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.33216	1.42;1.9	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.56709	-0.7934	10	0.72032	D	0.01	-25.1538	19.4917	0.95052	0.0:0.0:1.0:0.0	.	356;393	E7ES84;P50748	.;KNTC1_HUMAN	K	356;393	ENSP00000397992:E356K;ENSP00000328236:E393K	ENSP00000328236:E393K	E	+	1	0	KNTC1	121602004	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.995000	0.93534	2.608000	0.88229	0.478000	0.44815	GAA	KNTC1	-	NULL	ENSG00000184445		0.284	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	-	0.00	41	0	G			123036051	+1	tier1	-	no_errors	ENST00000333479	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	A
KRBA1	84626	genome.wustl.edu	37	7	149421922	149421922	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:149421922T>C	ENST00000485033.2	+	8	1108	c.1108T>C	c.(1108-1110)Tgg>Cgg	p.W370R	KRBA1_ENST00000255992.10_Missense_Mutation_p.W370R|KRBA1_ENST00000319551.8_Missense_Mutation_p.W370R|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	370										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAACCCAGCTGGGGCCCTGA	0.652																																																	0													15.0	19.0	18.0					7																	149421922		1896	4097	5993	SO:0001583	missense	0			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1108T>C	7.37:g.149421922T>C	ENSP00000420112:p.Trp370Arg		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	NULL	p.W370R	ENST00000485033.2	37	c.1108		7	.	.	.	.	.	.	.	.	.	.	T	12.92	2.081761	0.36758	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.63580	0.04;-0.05;-0.05	3.82	3.82	0.43975	.	0.000000	0.37261	N	0.002165	T	0.61464	0.2349	L	0.29908	0.895	0.32049	N	0.597198	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.982	T	0.58989	-0.7538	10	0.08599	T	0.76	-6.9154	9.5771	0.39465	0.0:0.0:0.0:1.0	.	370;370	E7ENE9;A5PL33	.;KRBA1_HUMAN	R	370	ENSP00000255992:W370R;ENSP00000317165:W370R;ENSP00000420112:W370R	ENSP00000255992:W370R	W	+	1	0	KRBA1	149052855	1.000000	0.71417	0.944000	0.38274	0.075000	0.17131	1.869000	0.39519	1.702000	0.51228	0.533000	0.62120	TGG	KRBA1	-	NULL	ENSG00000133619		0.652	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	HGNC	protein_coding	OTTHUMT00000349841.3	-	0.00	56	0	T	NM_032534		149421922	+1	tier1	-	no_errors	ENST00000255992	ensembl	human	known	74_37	missense	30.00	56	24	SNP	0.957	C
KRT25	147183	genome.wustl.edu	37	17	38911154	38911154	+	Missense_Mutation	SNP	G	G	A	rs370147296		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:38911154G>A	ENST00000312150.4	-	1	430	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCAAGACCACGGCAAGAGCCA	0.448																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	118.0	113.0	115.0		370	3.7	1.0	17		115	0,8600		0,0,4300	no	missense	KRT25	NM_181534.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	124/451	38911154	1,13005	2203	4300	6503	SO:0001583	missense	0			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.370C>T	17.37:g.38911154G>A	ENSP00000310573:p.Arg124Cys			Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.R124C	ENST00000312150.4	37	c.370	CCDS11373.1	17	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576275	0.65878	2.27E-4	0.0	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.89617	-2.54	5.76	3.71	0.42584	Filament (1);	0.000000	0.64402	D	0.000008	D	0.88771	0.6527	M	0.82323	2.585	0.44719	D	0.997717	B	0.24920	0.114	B	0.24269	0.052	D	0.85520	0.1203	10	0.54805	T	0.06	.	11.4763	0.50300	0.0:0.0:0.6805:0.3195	.	124	Q7Z3Z0	K1C25_HUMAN	C	124	ENSP00000310573:R124C	ENSP00000310573:R124C	R	-	1	0	KRT25	36164680	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	0.188000	0.17018	0.733000	0.32492	0.655000	0.94253	CGT	KRT25	-	pfam_IF	ENSG00000204897		0.448	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT25	HGNC	protein_coding	OTTHUMT00000257218.1	-	0.00	43	0	G	NM_181534		38911154	-1	tier1	-	no_errors	ENST00000312150	ensembl	human	known	74_37	missense	46.77	33	29	SNP	1.000	A
KRT35	3886	genome.wustl.edu	37	17	39633867	39633867	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:39633867G>A	ENST00000393989.1	-	6	1165	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	KRT35_ENST00000246639.2_Missense_Mutation_p.R345W	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	375	Coil 2.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R375W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TGGTTCTGCCGCTCCAGGTCA	0.652																																																	1	Substitution - Missense(1)	lung(1)											66.0	65.0	65.0					17																	39633867		2203	4300	6503	SO:0001583	missense	0			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1123C>T	17.37:g.39633867G>A	ENSP00000377558:p.Arg375Trp		O76012|Q92651	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R375W	ENST00000393989.1	37	c.1123	CCDS11394.2	17	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598254	0.66332	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.90444	-2.67;-2.67	4.95	2.92	0.33932	Filament (1);	0.000000	0.56097	D	0.000034	D	0.95765	0.8622	H	0.96048	3.76	0.39007	D	0.959469	D	0.89917	1.0	D	0.97110	1.0	D	0.93823	0.7120	10	0.87932	D	0	.	4.6448	0.12566	0.1626:0.0:0.4112:0.4262	.	375	Q92764	KRT35_HUMAN	W	345;375	ENSP00000246639:R345W;ENSP00000377558:R375W	ENSP00000246639:R345W	R	-	1	2	KRT35	36887393	0.150000	0.22732	1.000000	0.80357	0.825000	0.46686	0.469000	0.22067	0.648000	0.30732	0.563000	0.77884	CGG	KRT35	-	pfam_IF	ENSG00000197079		0.652	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	HGNC	protein_coding		-	0.00	53	0	G	NM_002280		39633867	-1	tier1	-	no_errors	ENST00000393989	ensembl	human	known	74_37	missense	24.36	58	19	SNP	1.000	A
JUP	3728	genome.wustl.edu	37	17	39785135	39785135	+	Intron	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:39785135A>G	ENST00000540235.1	-	5	909				KRT42P_ENST00000438131.1_RNA			P14923	PLAK_HUMAN	junction plakoglobin						adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		tgcaggccacagtgaagggct	0.468																																					Colon(16;42 520 6044 17852 28530)												0																																										SO:0001627	intron_variant	0			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000540235.1:c.910-5851T>C	17.37:g.39785135A>G			Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	RNA	SNP	-	NULL	ENST00000540235.1	37	NULL		17																																																																																			KRT42P	-	-	ENSG00000214514		0.468	JUP-201	KNOWN	basic	protein_coding	KRT42P	HGNC	protein_coding		-	0.00	114	0	A			39785135	-1	tier1	-	no_errors	ENST00000438131	ensembl	human	known	74_37	rna	17.76	125	27	SNP	0.000	G
KRTAP24-1	643803	genome.wustl.edu	37	21	31655068	31655068	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr21:31655068G>A	ENST00000340345.4	-	1	208	c.183C>T	c.(181-183)tgC>tgT	p.C61C		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	61						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGGATTCTTGGCAGTAATCCA	0.512																																																	0													89.0	90.0	89.0					21																	31655068		1977	4172	6149	SO:0001819	synonymous_variant	0			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.183C>T	21.37:g.31655068G>A			Q1XDX0	Silent	SNP	pfam_KRTAP_PMG	p.C61	ENST00000340345.4	37	c.183	CCDS42915.1	21																																																																																			KRTAP24-1	-	pfam_KRTAP_PMG	ENSG00000188694		0.512	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP24-1	HGNC	protein_coding	OTTHUMT00000246806.2	-	0.00	38	0	G	NM_001085455		31655068	-1	tier1	-	no_errors	ENST00000340345	ensembl	human	known	74_37	silent	70.37	15	38	SNP	1.000	A
KRTAP4-6	81871	genome.wustl.edu	37	17	39296576	39296576	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:39296576C>T	ENST00000345847.4	-	1	163	c.164G>A	c.(163-165)tGc>tAc	p.C55Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	55	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGGCTGGCAGCACACAGACTG	0.672																																																	0																																										SO:0001583	missense	0			AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.164G>A	17.37:g.39296576C>T	ENSP00000328270:p.Cys55Tyr		Q9BYR1	Missense_Mutation	SNP	pfam_Keratin-assoc	p.C55Y	ENST00000345847.4	37	c.164	CCDS54125.1	17	.	.	.	.	.	.	.	.	.	.	.	13.23	2.174920	0.38413	.	.	ENSG00000198090	ENST00000345847	T	0.00705	5.81	4.25	4.25	0.50352	.	0.943340	0.08730	U	0.902145	T	0.10852	0.0265	H	0.98333	4.205	0.36271	D	0.855188	.	.	.	.	.	.	T	0.02121	-1.1210	8	0.87932	D	0	.	14.2753	0.66175	0.0:1.0:0.0:0.0	.	.	.	.	Y	55	ENSP00000328270:C55Y	ENSP00000328270:C55Y	C	-	2	0	KRTAP4-6	36550102	1.000000	0.71417	0.083000	0.20561	0.028000	0.11728	2.411000	0.44600	2.205000	0.71048	0.650000	0.86243	TGC	KRTAP4-6	-	pfam_Keratin-assoc	ENSG00000198090		0.672	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-6	HGNC	protein_coding	OTTHUMT00000257779.1	-	0.00	131	0	C			39296576	-1	tier1	-	no_errors	ENST00000345847	ensembl	human	known	74_37	missense	23.35	174	53	SNP	0.926	T
KRTAP4-6	81871	genome.wustl.edu	37	17	39296719	39296719	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:39296719A>G	ENST00000345847.4	-	1	20	c.21T>C	c.(19-21)ggT>ggC	p.G7G		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	7						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCAGACGGAACCACAACAGG	0.607																																																	0																																										SO:0001819	synonymous_variant	0			AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.21T>C	17.37:g.39296719A>G			Q9BYR1	Silent	SNP	pfam_Keratin-assoc	p.G7	ENST00000345847.4	37	c.21	CCDS54125.1	17																																																																																			KRTAP4-6	-	pfam_Keratin-assoc	ENSG00000198090		0.607	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-6	HGNC	protein_coding	OTTHUMT00000257779.1	-	0.00	99	0	A			39296719	-1	tier1	-	no_errors	ENST00000345847	ensembl	human	known	74_37	silent	23.65	155	48	SNP	0.750	G
LAMA1	284217	genome.wustl.edu	37	18	6975948	6975948	+	Silent	SNP	A	A	G	rs35831966		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:6975948A>G	ENST00000389658.3	-	45	6570	c.6477T>C	c.(6475-6477)ggT>ggC	p.G2159G	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2159	Laminin G-like 1. {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)				CGGTGCTGCTACCGAGGTAGA	0.403																																																	0													148.0	148.0	148.0					18																	6975948		2203	4300	6503	SO:0001819	synonymous_variant	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.6477T>C	18.37:g.6975948A>G				Silent	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.G2159	ENST00000389658.3	37	c.6477	CCDS32787.1	18																																																																																			LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.403	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	14	0	A	NM_005559		6975948	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	silent	42.31	15	11	SNP	0.001	G
LAMA4	3910	genome.wustl.edu	37	6	112575076	112575077	+	Intron	DEL	GA	GA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:112575076_112575077delGA	ENST00000230538.7	-	2	593				RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|LAMA4_ENST00000431543.2_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000368638.4_Frame_Shift_Del_p.P94fs|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|LAMA4_ENST00000522006.1_Intron|RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000453937.2_Frame_Shift_Del_p.P94fs	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAAAGAGGCGGAGAGAGAGAGA	0.584																																																	0									,,,,	55,4183		5,45,2069					,,,,	0.8	0.0			42	97,8157		13,71,4043	no	intron,frameshift,frameshift,intron,intron	LAMA4	NM_002290.3,NM_001105209.1,NM_001105208.1,NM_001105207.1,NM_001105206.1	,,,,	18,116,6112	A1A1,A1R,RR		1.1752,1.2978,1.2168	,,,,	,,,,		152,12340				SO:0001627	intron_variant	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.195+80TC>-	6.37:g.112575086_112575087delGA			Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Frame_Shift_Del	DEL	NULL	p.P93fs	ENST00000230538.7	37	c.277_276	CCDS43491.1	6																																																																																			LAMA4	-	NULL	ENSG00000112769		0.584	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2		0.00	30	0	GA	NM_001105206		112575077	-1	tier1		no_errors	ENST00000368638	ensembl	human	known	74_37	frame_shift_del	41.46	24	17	DEL	0.000:0.000	-
LAT2	7462	genome.wustl.edu	37	7	73639016	73639018	+	In_Frame_Del	DEL	GAG	GAG	-	rs35725154	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:73639016_73639018delGAG	ENST00000460943.1	+	13	1565_1567	c.676_678delGAG	c.(676-678)gagdel	p.E227del	LAT2_ENST00000344995.5_In_Frame_Del_p.E227del|LAT2_ENST00000275635.7_In_Frame_Del_p.E227del|LAT2_ENST00000398475.1_In_Frame_Del_p.E227del	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AAGCCCAGACGAGGAGGACGGGG	0.616																																																	0																																										SO:0001651	inframe_deletion	0			AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"""linker for activation of B cells"", ""non-T cell activation linker"", ""linker for activation of T cells, transmembrane adaptor 2"""	605719	"""Williams-Beuren syndrome chromosome region 5"""	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.676_678delGAG	7.37:g.73639019_73639021delGAG	ENSP00000420494:p.Glu227del		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	In_Frame_Del	DEL	NULL	p.E227in_frame_del	ENST00000460943.1	37	c.676_678	CCDS5566.2	7																																																																																			LAT2	-	NULL	ENSG00000086730		0.616	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LAT2	HGNC	protein_coding	OTTHUMT00000277062.1		0.00	67	0	GAG			73639018	+1	tier1		no_errors	ENST00000275635	ensembl	human	known	74_37	in_frame_del	45.00	44	36	DEL	0.855:0.885:0.890	-
ZNRF1	84937	genome.wustl.edu	37	16	75147877	75147877	+	IGR	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:75147877G>A	ENST00000335325.4	+	0	4620				LDHD_ENST00000450168.2_Silent_p.P272P|LDHD_ENST00000300051.4_Silent_p.P295P	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						TGCGGGCTACGGGCACTGCAG	0.672																																																	0													32.0	35.0	34.0					16																	75147877		2196	4300	6496	SO:0001628	intergenic_variant	0			AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606		16.37:g.75147877G>A			D3DUJ9|Q9H083	Silent	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2	p.P295	ENST00000335325.4	37	c.885	CCDS10912.1	16																																																																																			LDHD	-	pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C	ENSG00000166816		0.672	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDHD	HGNC	protein_coding	OTTHUMT00000269020.2	-	0.00	23	0	G			75147877	-1	tier1	-	no_errors	ENST00000300051	ensembl	human	known	74_37	silent	21.95	32	9	SNP	0.198	A
LDLRAP1	26119	genome.wustl.edu	37	1	25889632	25889632	+	Frame_Shift_Del	DEL	T	T	-	rs386629678|rs6687605	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:25889632delT	ENST00000374338.4	+	6	723	c.604delT	c.(604-606)tccfs	p.S202fs	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	202			S -> H (in ARH; Lebanon; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:11326085}.|S -> P (in dbSNP:rs6687605). {ECO:0000269|PubMed:11326085, ECO:0000269|PubMed:12417523, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCACCCCCTCCTTGAAGAG	0.637																																																	0													35.0	38.0	37.0					1																	25889632		2203	4298	6501	SO:0001589	frameshift_variant	0			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.604delT	1.37:g.25889632delT	ENSP00000363458:p.Ser202fs		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Frame_Shift_Del	DEL	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.S202fs	ENST00000374338.4	37	c.604	CCDS30639.1	1																																																																																			LDLRAP1	-	NULL	ENSG00000157978		0.637	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	HGNC	protein_coding	OTTHUMT00000019350.3		0.00	32	0	T	NM_015627		25889632	+1	tier1		no_errors	ENST00000374338	ensembl	human	known	74_37	frame_shift_del	18.60	35	8	DEL	0.000	-
LEPREL2	10536	genome.wustl.edu	37	12	6939693	6939693	+	RNA	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:6939693delG	ENST00000538102.1	+	0	46				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGCGAGCCAGGGGGGCCTCT	0.637																																																	0													11.0	12.0	12.0					12																	6939693		1948	4120	6068			0			U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 3"""	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6939693delG			Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	Frame_Shift_Del	DEL	smart_Pro_4_hyd_alph	p.G277fs	ENST00000538102.1	37	c.825		12																																																																																			LEPREL2	-	NULL	ENSG00000110811		0.637	LEPREL2-006	KNOWN	basic	processed_transcript	LEPREL2	HGNC	polymorphic_pseudogene	OTTHUMT00000399998.1		0.00	26	0	G	NM_014262		6939693	+1	tier1		no_errors	ENST00000396725	ensembl	human	known	74_37	frame_shift_del	27.06	62	23	DEL	0.003	-
LGALS9	3965	genome.wustl.edu	37	17	25969367	25969367	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:25969367G>A	ENST00000395473.2	+	4	1905	c.437G>A	c.(436-438)aGc>aAc	p.S146N	LGALS9_ENST00000413914.2_Missense_Mutation_p.S89N|LGALS9_ENST00000310394.5_Missense_Mutation_p.S146N|LGALS9_ENST00000302228.5_Missense_Mutation_p.S146N|LGALS9_ENST00000313648.6_Missense_Mutation_p.S146N	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	146	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TCCTACATCAGCTTCCAGGTC	0.617																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)												0													45.0	39.0	41.0					17																	25969367		2202	4292	6494	SO:0001583	missense	0			AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.437G>A	17.37:g.25969367G>A	ENSP00000378856:p.Ser146Asn		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.S146N	ENST00000395473.2	37	c.437	CCDS11222.1	17	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072771	0.36566	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394;ENST00000313648;ENST00000413914	T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44	3.94	-3.12	0.05282	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	1.352700	0.04388	N	0.361986	T	0.04497	0.0123	L	0.31664	0.95	0.18873	N	0.999981	B;B;B;B;B	0.32324	0.364;0.002;0.004;0.002;0.004	B;B;B;B;B	0.31751	0.135;0.03;0.02;0.034;0.034	T	0.39860	-0.9593	10	0.17369	T	0.5	.	4.3107	0.10969	0.3362:0.3135:0.3504:0.0	.	89;146;89;146;146	B4DWP7;F8W9W4;B4DJD7;Q3B8N1;O00182	.;.;.;.;LEG9_HUMAN	N	146;146;146;146;89	ENSP00000378856:S146N;ENSP00000306228:S146N;ENSP00000312259:S146N;ENSP00000318214:S146N;ENSP00000393695:S89N	ENSP00000306228:S146N	S	+	2	0	LGALS9	22993494	0.000000	0.05858	0.595000	0.28798	0.970000	0.65996	-1.300000	0.02751	-0.614000	0.05687	0.485000	0.47835	AGC	LGALS9	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	ENSG00000168961		0.617	LGALS9-001	KNOWN	basic|CCDS	protein_coding	LGALS9	HGNC	protein_coding	OTTHUMT00000255583.1	-	0.00	78	0	G	NM_009587		25969367	+1	tier1	-	no_errors	ENST00000395473	ensembl	human	known	74_37	missense	15.74	90	17	SNP	0.646	A
LIG3	3980	genome.wustl.edu	37	17	33323122	33323122	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:33323122delG	ENST00000378526.4	+	10	1784	c.1651delG	c.(1651-1653)gggfs	p.G552fs	LIG3_ENST00000262327.5_Frame_Shift_Del_p.G552fs	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	552					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GGCTTTTCCTGGGGGCCACAG	0.527								Other BER factors																																									0													77.0	77.0	77.0					17																	33323122		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1651delG	17.37:g.33323122delG	ENSP00000367787:p.Gly552fs		Q16714|Q6NVK3	Frame_Shift_Del	DEL	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,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_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.G552fs	ENST00000378526.4	37	c.1651	CCDS11284.2	17																																																																																			LIG3	-	pfam_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	ENSG00000005156		0.527	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3		0.00	25	0	G	NM_013975		33323122	+1	tier1		no_errors	ENST00000378526	ensembl	human	known	74_37	frame_shift_del	41.03	23	16	DEL	1.000	-
LIMK1	3984	genome.wustl.edu	37	7	73497447	73497447	+	5'Flank	SNP	C	C	T	rs367713589		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:73497447C>T	ENST00000336180.2	+	0	0				LIMK1_ENST00000418310.1_Missense_Mutation_p.T28M	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1						actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TTCCTTTGGACGCTTGACTCA	0.592																																																	0																																										SO:0001631	upstream_gene_variant	0			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448		7.37:g.73497447C>T	Exception_encountered		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T28M	ENST00000336180.2	37	c.83	CCDS5563.1	7	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898500	0.33535	.	.	ENSG00000106683	ENST00000418310	T	0.75050	-0.9	2.78	2.78	0.32641	.	.	.	.	.	T	0.78666	0.4319	.	.	.	0.35688	D	0.814618	.	.	.	.	.	.	D	0.84157	0.0426	6	0.87932	D	0	.	9.7048	0.40209	0.0:1.0:0.0:0.0	.	.	.	.	M	28	ENSP00000409717:T28M	ENSP00000409717:T28M	T	+	2	0	LIMK1	73135383	0.000000	0.05858	0.085000	0.20634	0.192000	0.23643	0.280000	0.18790	1.539000	0.49286	0.187000	0.17357	ACG	LIMK1	-	NULL	ENSG00000106683		0.592	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	-	0.00	41	0	C	NM_002314		73497447	+1	tier1	-	no_errors	ENST00000418310	ensembl	human	putative	74_37	missense	27.40	53	20	SNP	0.286	T
LINC00619	414260	genome.wustl.edu	37	10	44341000	44341000	+	lincRNA	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:44341000A>G	ENST00000374432.3	+	0	122					NR_033923.1				long intergenic non-protein coding RNA 619																		ATGTGGAAGAAGAGATGTGGG	0.517																																																	0																																												0			BC017939		10q11.21	2012-10-12	2012-07-12	2012-07-12	ENSG00000204187	ENSG00000204187		"""Long non-coding RNAs"""	31657	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 136"""	C10orf136			Standard	NR_033923		Approved	bA168P8.1	uc021ppi.1		OTTHUMG00000018048		10.37:g.44341000A>G				RNA	SNP	-	NULL	ENST00000374432.3	37	NULL		10	.	.	.	.	.	.	.	.	.	.	A	2.142	-0.396656	0.04899	.	.	ENSG00000204187	ENST00000374432	.	.	.	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	0.87932	D	0	.	.	.	.	.	.	.	.	G	39	.	ENSP00000363554:R39G	R	+	1	2	C10orf136	43661006	0.020000	0.18652	0.006000	0.13384	0.017000	0.09413	0.164000	0.16542	0.115000	0.18071	0.113000	0.15668	AGA	LINC00619	-	-	ENSG00000204187		0.517	LINC00619-001	KNOWN	basic|exp_conf	lincRNA	LINC00619	HGNC	lincRNA	OTTHUMT00000047731.2	-	0.00	117	0	A	NR_033923		44341000	+1	tier1	-	no_errors	ENST00000374432	ensembl	human	known	74_37	rna	19.74	122	30	SNP	0.006	G
LINC00937	389634	genome.wustl.edu	37	12	8543091	8543091	+	lincRNA	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:8543091G>A	ENST00000544461.1	-	0	855									long intergenic non-protein coding RNA 937																		CCATGGCCCCGGGGGCTCTGC	0.756																																																	0																																												0			BC073935		12p13.31	2013-05-30			ENSG00000226091	ENSG00000226091		"""Long non-coding RNAs"""	48629	non-coding RNA	RNA, long non-coding							Standard	NR_024420		Approved				OTTHUMG00000168663		12.37:g.8543091G>A				RNA	SNP	-	NULL	ENST00000544461.1	37	NULL		12																																																																																			LINC00937	-	-	ENSG00000226091		0.756	LINC00937-001	KNOWN	basic	lincRNA	LINC00937	HGNC	lincRNA	OTTHUMT00000400511.1	-	0.00	11	0	G			8543091	-1	tier1	-	no_errors	ENST00000420040	ensembl	human	known	74_37	rna	65.22	8	15	SNP	0.742	A
LINC00955	285492	genome.wustl.edu	37	4	3589709	3589709	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:3589709G>T	ENST00000514422.1	+	2	363	c.77G>T	c.(76-78)tGg>tTg	p.W26L						long intergenic non-protein coding RNA 955																		CAGACTTCTTGGTTCATCTGC	0.532																																																	0																																										SO:0001583	missense	0			AK092743		4p16.3	2014-04-09			ENSG00000216560	ENSG00000216560			26644	other	unknown							Standard	NR_040045		Approved	FLJ35424			OTTHUMG00000159817	ENST00000514422.1:c.77G>T	4.37:g.3589709G>T	ENSP00000427553:p.Trp26Leu			Missense_Mutation	SNP	NULL	p.W26L	ENST00000514422.1	37	c.77		4	.	.	.	.	.	.	.	.	.	.	g	11.29	1.594371	0.28445	.	.	ENSG00000216560	ENST00000514422;ENST00000404649	T	0.55052	0.54	0.833	-0.176	0.13311	.	.	.	.	.	T	0.46833	0.1413	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.46428	-0.9192	6	0.87932	D	0	.	4.7784	0.13190	0.2663:0.0:0.7337:0.0	.	.	.	.	L	26	ENSP00000427553:W26L	ENSP00000385364:W26L	W	+	2	0	RP3-368B9.1	3559507	.	.	0.002000	0.10522	0.621000	0.37620	.	.	-0.085000	0.12573	0.299000	0.19835	TGG	LINC00955	-	NULL	ENSG00000216560		0.532	LINC00955-001	NOVEL	basic|appris_principal	protein_coding	LINC00955	HGNC	protein_coding	OTTHUMT00000357538.6	-	0.00	100	0	G			3589709	+1	tier1	-	no_errors	ENST00000514422	ensembl	human	novel	74_37	missense	29.41	120	50	SNP	0.279	T
LMNB2	84823	genome.wustl.edu	37	19	2432415	2432415	+	Splice_Site	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:2432415G>A	ENST00000582871.1	-	9	1615	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Splice_Site_p.T530M	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	510	LTD.|Tail.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCTACCGTGACCATCTG	0.652																																																	0													173.0	137.0	149.0					19																	2432415		2203	4300	6503	SO:0001630	splice_region_variant	0			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1530+1C>T	19.37:g.2432415G>A			O75292|Q14734|Q96DF6	Missense_Mutation	SNP	pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.T530M	ENST00000582871.1	37	c.1589		19	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856660	0.71834	.	.	ENSG00000176619	ENST00000325327	.	.	.	3.93	3.93	0.45458	Intermediate filament, C-terminal (1);	0.111526	0.64402	D	0.000010	T	0.79240	0.4412	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81618	-0.0851	9	0.62326	D	0.03	.	10.0406	0.42155	0.0:0.0:0.7983:0.2016	.	510	Q03252	LMNB2_HUMAN	M	510	.	ENSP00000327054:T510M	T	-	2	0	LMNB2	2383415	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	6.123000	0.71614	1.751000	0.51876	0.555000	0.69702	ACG	LMNB2	-	pfam_Lamin_tail_dom	ENSG00000176619		0.652	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	HGNC	protein_coding		-	0.00	66	0	G	NM_032737	Missense_Mutation	2432415	-1	tier1	-	no_errors	ENST00000325327	ensembl	human	known	74_37	missense	74.70	21	62	SNP	1.000	A
LMO3	55885	genome.wustl.edu	37	12	16713448	16713448	+	Silent	SNP	G	G	A	rs149014326		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:16713448G>A	ENST00000320122.6	-	3	753	c.231C>T	c.(229-231)tgC>tgT	p.C77C	LMO3_ENST00000534946.1_Silent_p.C77C|LMO3_ENST00000447609.1_Silent_p.C77C|LMO3_ENST00000261169.6_Silent_p.C88C|LMO3_ENST00000540848.1_Silent_p.C77C|LMO3_ENST00000354662.1_Silent_p.C77C|LMO3_ENST00000541846.1_Silent_p.C77C|LMO3_ENST00000540445.1_Silent_p.C99C|LMO3_ENST00000541295.1_Silent_p.C95C|LMO3_ENST00000535535.1_Silent_p.C77C|LMO3_ENST00000441439.2_Silent_p.C77C|LMO3_ENST00000537304.1_Silent_p.C77C	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	77	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TACAGGCAGCGCAGTTTCCCG	0.413																																																	0								G	,	0,4406		0,0,2203	118.0	94.0	102.0		231,231	-0.5	1.0	12	dbSNP_134	102	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	LMO3	NM_001001395.2,NM_018640.4	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	77/146,77/146	16713448	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.231C>T	12.37:g.16713448G>A			B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R58C	ENST00000320122.6	37	c.172	CCDS8678.1	12																																																																																			LMO3	-	pfam_Znf_LIM,pfscan_Znf_LIM	ENSG00000048540		0.413	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LMO3	HGNC	protein_coding	OTTHUMT00000401279.1	-	0.00	14	0	G	NM_018640		16713448	-1	tier1	rs149014326	no_errors	ENST00000453727	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	A
LMO7	4008	genome.wustl.edu	37	13	76374862	76374862	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:76374862A>C	ENST00000341547.4	+	8	1921	c.661A>C	c.(661-663)Agt>Cgt	p.S221R	LMO7_ENST00000526202.1_Missense_Mutation_p.S130R|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.S221R|LMO7_ENST00000357063.3_Missense_Mutation_p.S221R|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	221					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGCAGGGACAGTGGCTACGG	0.413																																																	0													71.0	72.0	72.0					13																	76374862		2203	4300	6503	SO:0001583	missense	0			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.661A>C	13.37:g.76374862A>C	ENSP00000342112:p.Ser221Arg		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.S221R	ENST00000341547.4	37	c.661	CCDS9454.1	13	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558737	0.86231	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.57595	0.97;0.99;1.0;0.46;0.39	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.68302	0.2986	L	0.51914	1.62	0.52099	D	0.999942	P;P;D	0.89917	0.85;0.918;1.0	P;P;D	0.87578	0.85;0.712;0.998	T	0.70865	-0.4756	10	0.87932	D	0	-19.9954	16.1726	0.81828	1.0:0.0:0.0:0.0	.	130;221;169	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	R	221;221;221;169;130	ENSP00000342112:S221R;ENSP00000349571:S221R;ENSP00000366757:S221R;ENSP00000366719:S169R;ENSP00000431129:S130R	ENSP00000342112:S221R	S	+	1	0	LMO7	75272863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.468000	0.73551	2.232000	0.73038	0.482000	0.46254	AGT	LMO7	-	NULL	ENSG00000136153		0.413	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045297.1	-	0.00	62	0	A	NM_005358		76374862	+1	tier1	-	no_errors	ENST00000357063	ensembl	human	known	74_37	missense	28.57	40	16	SNP	1.000	C
LINC01310	100128946	genome.wustl.edu	37	22	49290904	49290904	+	lincRNA	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:49290904delG	ENST00000380981.2	+	0	786					NR_038944.1																						AGTCAGGATTGGGGGGGTCCC	0.677																																																	0																																												0																															22.37:g.49290904delG				RNA	DEL	-	NULL	ENST00000380981.2	37	NULL		22																																																																																			WI2-81516E3.1	-	-	ENSG00000205632		0.677	WI2-81516E3.1-001	KNOWN	basic	lincRNA	LOC100128946	Clone_based_vega_gene	lincRNA	OTTHUMT00000317499.1		0.00	38	0	G			49290904	+1	tier1		no_errors	ENST00000380981	ensembl	human	known	74_37	rna	36.54	33	19	DEL	0.003	-
CADM3	57863	genome.wustl.edu	37	1	159166116	159166116	+	Intron	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:159166116T>C	ENST00000368125.4	+	6	848				CADM3_ENST00000368124.4_Intron|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTAAGCCGTGTGGGGAGGTAT	0.502											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													119.0	88.0	98.0					1																	159166116		2203	4300	6503	SO:0001627	intron_variant	0			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.692-38T>C	1.37:g.159166116T>C		1799	Q8IZQ9|Q9NVJ5|Q9UJP1	RNA	SNP	-	NULL	ENST00000368125.4	37	NULL	CCDS44251.1	1																																																																																			CTA-134P22.2	-	-	ENSG00000225670		0.502	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100131825	Clone_based_vega_gene	protein_coding	OTTHUMT00000090330.1	-	0.00	41	0	T	NM_021189		159166116	-1	tier1	-	no_errors	ENST00000415675	ensembl	human	known	74_37	rna	15.94	58	11	SNP	0.000	C
TRPA1	8989	genome.wustl.edu	37	8	72965086	72965086	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:72965086C>T	ENST00000262209.4	-	14	1852				RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1						calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAGACATTAGCGACACTATTT	0.353																																																	0																																										SO:0001627	intron_variant	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1645-86G>A	8.37:g.72965086C>T			A6NIN6	RNA	SNP	-	NULL	ENST00000262209.4	37	NULL	CCDS34908.1	8																																																																																			RP11-383H13.1	-	-	ENSG00000235531		0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100132891	Clone_based_vega_gene	protein_coding	OTTHUMT00000379079.2	-	0.00	9	0	C	NM_007332		72965086	+1	tier1	-	no_errors	ENST00000457356	ensembl	human	known	74_37	rna	78.95	4	15	SNP	0.000	T
TMEM8A	58986	genome.wustl.edu	37	16	436727	436729	+	Intron	DEL	AAA	AAA	-	rs143645242|rs10544230|rs537641750|rs397823418		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:436727_436729delAAA	ENST00000476735.1	-	1	217				Z97634.3_ENST00000412293.1_RNA			Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						aaaaaaaaccaaaaaaaaaaaaa	0.389																																																	0																																										SO:0001627	intron_variant	0			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000476735.1:c.584+167TTT>-	16.37:g.436736_436738delAAA			D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	RNA	DEL	-	NULL	ENST00000476735.1	37	NULL		16																																																																																			Z97634.3	-	-	ENSG00000236829		0.389	TMEM8A-007	KNOWN	basic	processed_transcript	LOC100134368	Clone_based_vega_gene	protein_coding	OTTHUMT00000313680.1		0.00	8	0	AAA	NM_021259		436729	+1	tier1		no_errors	ENST00000457760	ensembl	human	known	74_37	rna	30.00	7	3	DEL	0.004:0.019:0.056	-
RP11-435B5.5	0	genome.wustl.edu	37	1	143399710	143399710	+	lincRNA	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:143399710delT	ENST00000428624.1	+	0	4990				RP11-435B5.4_ENST00000423249.1_lincRNA																							gaatgagtcattttttttaga	0.463																																																	0																																												0																															1.37:g.143399710delT				RNA	DEL	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			RP11-435B5.5	-	-	ENSG00000238261		0.463	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927345	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1		0.00	9	0	T			143399710	+1			no_errors	ENST00000431700	ensembl	human	known	74_37	rna	42.86	4	3	DEL	0.006	0
ZNF529	57711	genome.wustl.edu	37	19	37068397	37068397	+	5'Flank	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:37068397delT	ENST00000586458.1	-	0	2674				AC092295.7_ENST00000448373.2_RNA|AC092295.7_ENST00000494214.2_RNA|AC092295.7_ENST00000592880.2_RNA|AC092295.7_ENST00000475219.2_RNA	NR_027239.1		Q6P280	ZN529_HUMAN	zinc finger protein 529						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					TTGTACTCTCttttttttttt	0.468																																																	0																																										SO:0001631	upstream_gene_variant	0			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714		19.37:g.37068397delT	Exception_encountered		K7EKE1|Q9H731|Q9HCF7	RNA	DEL	-	NULL	ENST00000586458.1	37	NULL		19																																																																																			AC092295.7	-	-	ENSG00000233527		0.468	ZNF529-008	KNOWN	basic	processed_transcript	LOC101927599	Clone_based_vega_gene	protein_coding	OTTHUMT00000452734.1		0.00	21	0	T	NM_020951		37068397	+1	tier1		no_errors	ENST00000448373	ensembl	human	known	74_37	rna	35.71	9	5	DEL	0.124	-
DPP6	1804	genome.wustl.edu	37	7	153755694	153755694	+	Intron	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:153755694delC	ENST00000377770.3	+	1	384				DPP6_ENST00000404039.1_Intron|AC006019.3_ENST00000425591.1_RNA|DPP6_ENST00000406326.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGACCCTCTTCCCCCCCCAGC	0.617																																					NSCLC(125;1384 1783 2490 7422 34254)												0																																										SO:0001627	intron_variant	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.243+5546C>-	7.37:g.153755694delC				RNA	DEL	-	NULL	ENST00000377770.3	37	NULL		7																																																																																			AC006019.3	-	-	ENSG00000203335		0.617	DPP6-003	KNOWN	basic|appris_principal	protein_coding	LOC101930187	Clone_based_vega_gene	protein_coding	OTTHUMT00000322932.1		0.00	13	0	C	NM_130797		153755694	-1	tier1		no_errors	ENST00000425591	ensembl	human	known	74_37	rna	61.54	5	8	DEL	0.000	-
LOC728323	728323	genome.wustl.edu	37	2	243056848	243056848	+	RNA	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:243056848delA	ENST00000456398.1	+	0	369																											ATATGCATCCAAAAAAAGAAA	0.254																																																	0																																												0																															2.37:g.243056848delA				RNA	DEL	-	NULL	ENST00000456398.1	37	NULL		2																																																																																			AC093642.5	-	-	ENSG00000220804		0.254	AC093642.5-002	KNOWN	basic	processed_transcript	LOC101930257	Clone_based_vega_gene	pseudogene	OTTHUMT00000322444.2		0.00	41	0	A			243056848	+1	tier1		no_errors	ENST00000431796	ensembl	human	known	74_37	rna	31.82	30	14	DEL	0.992	-
RP11-782C8.1	0	genome.wustl.edu	37	1	143230391	143230391	+	lincRNA	SNP	A	A	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:143230391A>T	ENST00000438000.1	+	0	147				RP11-782C8.5_ENST00000427309.1_lincRNA																							CAATGAATCCACACACAGTTC	0.343																																																	0																																												0																															1.37:g.143230391A>T				RNA	SNP	-	NULL	ENST00000438000.1	37	NULL		1																																																																																			RP11-782C8.5	-	-	ENSG00000225278		0.343	RP11-782C8.1-002	KNOWN	basic	lincRNA	LOC101930284	Clone_based_vega_gene	lincRNA	OTTHUMT00000037560.1	-	0.00	68	0	A			143230391	-1	tier1	-	no_errors	ENST00000422716	ensembl	human	known	74_37	rna	9.68	56	6	SNP	0.080	T
TPTE2P2	644623	genome.wustl.edu	37	13	52854009	52854009	+	RNA	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:52854009C>T	ENST00000451298.1	-	0	528																											ACTGGCCTCCCGAAGATGGAA	0.303																																																	0																																												0																															13.37:g.52854009C>T				RNA	SNP	-	NULL	ENST00000451298.1	37	NULL		13																																																																																			RP11-248G5.8	-	-	ENSG00000217576		0.303	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	LOC101930578	Clone_based_vega_gene	processed_transcript	OTTHUMT00000471093.1	-	0.00	72	0	C			52854009	-1	tier1	-	no_errors	ENST00000451298	ensembl	human	known	74_37	rna	22.22	62	18	SNP	0.998	T
LOC643770	643770	genome.wustl.edu	37	12	98880902	98880904	+	In_Frame_Del	DEL	AAA	AAA	-	rs36109874|rs398076890|rs66683045	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:98880902_98880904delAAA	ENST00000501499.1	-	4	242_244	c.220_222delTTT	c.(220-222)tttdel	p.F74del	RP11-181C3.1_ENST00000549004.1_5'UTR																							ATATCTGTGTAAAAAAAAAAAAA	0.315																																																	0																																										SO:0001651	inframe_deletion	0																														ENST00000501499.1:c.220_222delTTT	12.37:g.98880911_98880913delAAA	ENSP00000450773:p.Phe74del			In_Frame_Del	DEL	NULL	p.F74in_frame_del	ENST00000501499.1	37	c.222_220		12																																																																																			RP11-181C3.1	-	NULL	ENSG00000245017		0.315	RP11-181C3.1-001	PUTATIVE	basic|appris_principal	protein_coding	LOC643770	Clone_based_vega_gene	protein_coding	OTTHUMT00000407970.2		0.00	62	0	AAA			98880904	-1	tier1		no_errors	ENST00000501499	ensembl	human	putative	74_37	in_frame_del	38.96	47	30	DEL	0.250:0.230:0.199	-
TMEM178A	130733	genome.wustl.edu	37	2	39892291	39892291	+	5'Flank	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:39892291C>T	ENST00000281961.2	+	0	0				AC007246.3_ENST00000415640.1_RNA	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A							integral component of membrane (GO:0016021)											GGGAAAGAGCCGCGACAGATA	0.557																																																	0																																										SO:0001631	upstream_gene_variant	0			BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591		2.37:g.39892291C>T	Exception_encountered		Q6UWI6|Q8N6N4	RNA	SNP	-	NULL	ENST00000281961.2	37	NULL	CCDS1804.1	2																																																																																			AC007246.3	-	-	ENSG00000231312		0.557	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC728730	Clone_based_vega_gene	protein_coding	OTTHUMT00000250445.2	-	0.00	31	0	C	NM_152390		39892291	+1	tier1	-	no_errors	ENST00000415640	ensembl	human	known	74_37	rna	50.00	34	34	SNP	0.000	T
LONP2	83752	genome.wustl.edu	37	16	48295365	48295365	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:48295365A>G	ENST00000285737.4	+	5	847	c.754A>G	c.(754-756)Aca>Gca	p.T252A	LONP2_ENST00000535754.1_Missense_Mutation_p.T208A	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TAGGAGAATTACACATATCTC	0.348																																																	0													148.0	148.0	148.0					16																	48295365		2200	4299	6499	SO:0001583	missense	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.754A>G	16.37:g.48295365A>G	ENSP00000285737:p.Thr252Ala			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.T252A	ENST00000285737.4	37	c.754	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	A	6.033	0.374540	0.11409	.	.	ENSG00000102910	ENST00000285737;ENST00000535754;ENST00000416006	T;T	0.28666	1.6;1.6	5.88	-0.465	0.12157	.	0.743961	0.13586	N	0.376996	T	0.17789	0.0427	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17048	-1.0382	10	0.66056	D	0.02	-2.2568	6.0933	0.20007	0.4399:0.2388:0.3213:0.0	.	208;252	B7ZKL7;Q86WA8	.;LONP2_HUMAN	A	252;208;208	ENSP00000285737:T252A;ENSP00000445426:T208A	ENSP00000285737:T252A	T	+	1	0	LONP2	46852866	0.081000	0.21417	0.029000	0.17559	0.856000	0.48823	1.073000	0.30691	-0.377000	0.07930	0.482000	0.46254	ACA	LONP2	-	tigrfam_Lon_bac/euk-typ	ENSG00000102910		0.348	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	-	0.00	38	0	A	NM_031490		48295365	+1	tier1	-	no_errors	ENST00000285737	ensembl	human	known	74_37	missense	43.75	36	28	SNP	0.003	G
LPA	4018	genome.wustl.edu	37	6	160958928	160958928	+	Missense_Mutation	SNP	G	G	T	rs553481085		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:160958928G>T	ENST00000316300.5	-	37	5845	c.5801C>A	c.(5800-5802)gCc>gAc	p.A1934D	LPA_ENST00000447678.1_Missense_Mutation_p.A1934D			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4442	Kringle 17. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTCAGTCCTGGCGGTGACCAT	0.468																																																	0													94.0	96.0	96.0					6																	160958928		2203	4300	6503	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5801C>A	6.37:g.160958928G>T	ENSP00000321334:p.Ala1934Asp		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.A1934D	ENST00000316300.5	37	c.5801	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.528121	0.00147	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.89270	-2.49;-2.49	2.62	-2.16	0.07080	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.56863	0.2014	N	0.12887	0.27	0.09310	N	1	B	0.25390	0.125	B	0.34590	0.186	T	0.56402	-0.7985	9	0.12766	T	0.61	.	4.52	0.11954	0.0:0.1623:0.4093:0.4284	.	4442	P08519	APOA_HUMAN	D	1934	ENSP00000321334:A1934D;ENSP00000395608:A1934D	ENSP00000321334:A1934D	A	-	2	0	LPA	160878918	0.168000	0.22989	0.001000	0.08648	0.001000	0.01503	1.056000	0.30480	-0.572000	0.06006	-1.098000	0.02139	GCC	LPA	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000198670		0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0.00	91	0	G	NM_005577		160958928	-1	tier1	-	no_errors	ENST00000316300	ensembl	human	known	74_37	missense	38.46	40	25	SNP	0.009	T
LRFN5	145581	genome.wustl.edu	37	14	42356300	42356300	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:42356300A>G	ENST00000298119.4	+	3	1661	c.472A>G	c.(472-474)Aat>Gat	p.N158D	LRFN5_ENST00000554120.1_Missense_Mutation_p.N158D|LRFN5_ENST00000554171.1_Missense_Mutation_p.N158D	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	158						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTCCTATAATAATCTAGAAAC	0.398										HNSCC(30;0.082)																																							0													83.0	72.0	76.0					14																	42356300		2203	4300	6503	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.472A>G	14.37:g.42356300A>G	ENSP00000298119:p.Asn158Asp		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N158D	ENST00000298119.4	37	c.472	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676127	0.67928	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.92048	-2.96;-2.96;-2.96	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000010	D	0.93334	0.7875	L	0.33710	1.025	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.94132	0.7389	10	0.87932	D	0	.	13.6661	0.62396	1.0:0.0:0.0:0.0	.	158;158	G3V364;Q96NI6	.;LRFN5_HUMAN	D	158	ENSP00000298119:N158D;ENSP00000451897:N158D;ENSP00000451067:N158D	ENSP00000298119:N158D	N	+	1	0	LRFN5	41426050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.098000	0.63641	0.528000	0.53228	AAT	LRFN5	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000165379		0.398	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0.00	32	0	A	NM_152447		42356300	+1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	26.76	52	19	SNP	1.000	G
LRG1	116844	genome.wustl.edu	37	19	4537971	4537971	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:4537971G>T	ENST00000306390.6	-	2	1485	c.1025C>A	c.(1024-1026)gCa>gAa	p.A342E	PLIN5_ENST00000586133.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron|PLIN5_ENST00000381848.3_5'Flank|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	342	LRRCT.				brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGGCCACTGCCAGGAGCGT	0.577																																																	0													28.0	29.0	29.0					19																	4537971		2203	4299	6502	SO:0001583	missense	0				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.1025C>A	19.37:g.4537971G>T	ENSP00000302621:p.Ala342Glu		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A342E	ENST00000306390.6	37	c.1025	CCDS12130.1	19	.	.	.	.	.	.	.	.	.	.	.	1.268	-0.613922	0.03690	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02216	4.39	5.15	-10.3	0.00346	Cysteine-rich flanking region, C-terminal (1);	1.115740	0.07067	N	0.834777	T	0.00815	0.0027	N	0.03050	-0.425	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.47923	-0.9079	10	0.02654	T	1	-2.0E-4	10.7225	0.46048	0.1368:0.0:0.1522:0.7109	.	342	P02750	A2GL_HUMAN	E	342;325	ENSP00000302621:A342E	ENSP00000302621:A342E	A	-	2	0	LRG1	4488971	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.496000	0.06436	-2.164000	0.00782	-0.282000	0.10007	GCA	LRG1	-	smart_Cys-rich_flank_reg_C	ENSG00000171236		0.577	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2		0.00	20	0	G	NM_052972		4537971	-1			no_errors	ENST00000306390	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	T
LRP1	4035	genome.wustl.edu	37	12	57579515	57579515	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:57579515C>T	ENST00000243077.3	+	41	7131	c.6665C>T	c.(6664-6666)gCg>gTg	p.A2222V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2222					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AACCTCAATGCGCCCGTGCAG	0.612																																																	0													106.0	85.0	92.0					12																	57579515		2203	4300	6503	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6665C>T	12.37:g.57579515C>T	ENSP00000243077:p.Ala2222Val		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A2222V	ENST00000243077.3	37	c.6665	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399226	0.83120	.	.	ENSG00000123384	ENST00000243077	D	0.91237	-2.81	4.87	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000003	T	0.80270	0.4592	N	0.17379	0.485	0.80722	D	1	P	0.38711	0.643	B	0.24155	0.051	T	0.80555	-0.1330	10	0.24483	T	0.36	.	16.7727	0.85543	0.0:1.0:0.0:0.0	.	2222	Q07954	LRP1_HUMAN	V	2222	ENSP00000243077:A2222V	ENSP00000243077:A2222V	A	+	2	0	LRP1	55865782	1.000000	0.71417	0.536000	0.28039	0.900000	0.52787	7.818000	0.86416	2.244000	0.73946	0.491000	0.48974	GCG	LRP1	-	NULL	ENSG00000123384		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0.00	36	0	C	NM_002332		57579515	+1	tier1	-	no_errors	ENST00000243077	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	T
LRP1	4035	genome.wustl.edu	37	12	57603939	57603940	+	Frame_Shift_Ins	INS	-	-	C	rs374957759|rs368578321		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:57603939_57603940insC	ENST00000243077.3	+	81	13033_13034	c.12567_12568insC	c.(12568-12570)cccfs	p.P4190fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4190					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTCCAACGCCCCCCCCAGA	0.639																																																	0																																										SO:0001589	frameshift_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12575dupC	12.37:g.57603947_57603947dupC	ENSP00000243077:p.Pro4190fs		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D4192fs	ENST00000243077.3	37	c.12567_12568	CCDS8932.1	12																																																																																			LRP1	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000123384		0.639	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2		0.00	44	0	-	NM_002332		57603940	+1	tier1		no_errors	ENST00000243077	ensembl	human	known	74_37	frame_shift_ins	25.96	77	27	INS	0.037:0.113	C
LRIG3	121227	genome.wustl.edu	37	12	59270334	59270334	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:59270334G>A	ENST00000320743.3	-	16	2874	c.2588C>T	c.(2587-2589)aCg>aTg	p.T863M	LRIG3_ENST00000379141.4_Missense_Mutation_p.T803M	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	863					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GTCAGCTAACGTTCCCTGAGA	0.423			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													150.0	128.0	135.0					12																	59270334		2203	4300	6503	SO:0001583	missense	0			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2588C>T	12.37:g.59270334G>A	ENSP00000326759:p.Thr863Met		Q6UXL7|Q8NC72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T863M	ENST00000320743.3	37	c.2588	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713544	0.89112	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.66460	-0.15;-0.21	5.75	5.75	0.90469	.	0.000000	0.38164	N	0.001799	D	0.82595	0.5071	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.71656	0.957;0.974	T	0.81929	-0.0708	9	.	.	.	.	19.9376	0.97146	0.0:0.0:1.0:0.0	.	803;863	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	M	803;863	ENSP00000368436:T803M;ENSP00000326759:T863M	.	T	-	2	0	LRIG3	57556601	1.000000	0.71417	0.124000	0.21820	0.990000	0.78478	9.799000	0.99117	2.711000	0.92665	0.655000	0.94253	ACG	LRIG3	-	NULL	ENSG00000139263		0.423	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	-	0.00	35	0	G	NM_153377		59270334	-1	tier1	-	no_errors	ENST00000320743	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.999	A
LRP1B	53353	genome.wustl.edu	37	2	141751679	141751679	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:141751679G>T	ENST00000389484.3	-	16	3500	c.2529C>A	c.(2527-2529)caC>caA	p.H843Q	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	843					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTTACATATGTGAGGTAGTG	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													119.0	114.0	116.0					2																	141751679		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2529C>A	2.37:g.141751679G>T	ENSP00000374135:p.His843Gln		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H843Q	ENST00000389484.3	37	c.2529	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098617	0.20552	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91068	-2.78	5.76	-1.58	0.08479	.	0.317775	0.30101	U	0.010411	T	0.77994	0.4214	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59984	-0.7351	10	0.11485	T	0.65	.	2.7163	0.05188	0.4007:0.2752:0.2311:0.0929	.	843	Q9NZR2	LRP1B_HUMAN	Q	843;781	ENSP00000374135:H843Q	ENSP00000374135:H843Q	H	-	3	2	LRP1B	141468149	0.023000	0.18921	0.007000	0.13788	0.759000	0.43091	0.203000	0.17315	-0.334000	0.08463	0.563000	0.77884	CAC	LRP1B	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000168702		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	52	0	G	NM_018557		141751679	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.023	T
LRR1	122769	genome.wustl.edu	37	14	50067360	50067360	+	Intron	SNP	T	T	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:50067360T>G	ENST00000298288.6	+	1	507				RPS29_ENST00000557111.1_5'Flank|LRR1_ENST00000557531.1_3'UTR|AL139099.1_ENST00000539688.1_5'Flank|LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1						protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AAGGAAACTGTCCATTTCTCT	0.353																																																	0																																										SO:0001627	intron_variant	0			BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.183+1439T>G	14.37:g.50067360T>G			A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	RNA	SNP	-	NULL	ENST00000298288.6	37	NULL	CCDS9686.1	14																																																																																			LRR1	-	-	ENSG00000165501		0.353	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRR1	HGNC	protein_coding	OTTHUMT00000410790.1	-	0.00	40	0	T	NM_203467		50067360	+1	tier1	-	no_errors	ENST00000557531	ensembl	human	putative	74_37	rna	7.29	89	7	SNP	0.119	G
LRRC16A	55604	genome.wustl.edu	37	6	25435803	25435803	+	Silent	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:25435803G>T	ENST00000329474.6	+	5	710	c.342G>T	c.(340-342)ctG>ctT	p.L114L	snoU13_ENST00000458807.1_RNA|LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	114					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCACCTGCCTGAGGAAGATAT	0.512																																																	0													57.0	61.0	60.0					6																	25435803		2036	4168	6204	SO:0001819	synonymous_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.342G>T	6.37:g.25435803G>T			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L114	ENST00000329474.6	37	c.342	CCDS54973.1	6																																																																																			LRRC16A	-	NULL	ENSG00000079691		0.512	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	-	0.00	24	0	G	NM_017640		25435803	+1	tier1	-	no_errors	ENST00000329474	ensembl	human	novel	74_37	silent	17.65	14	3	SNP	0.968	T
LRRC16A	55604	genome.wustl.edu	37	6	25452454	25452455	+	Intron	DEL	TT	TT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:25452454_25452455delTT	ENST00000329474.6	+	8	982				LRRC16A_ENST00000377969.3_Intron	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TCTCAGGCAATTTTTTTTTTTT	0.436																																																	0																																										SO:0001627	intron_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.614+1515TT>-	6.37:g.25452464_25452465delTT			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	RNA	DEL	-	NULL	ENST00000329474.6	37	NULL	CCDS54973.1	6																																																																																			LRRC16A	-	-	ENSG00000079691		0.436	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2		0.00	41	0	TT	NM_017640		25452455	+1	tier1		no_errors	ENST00000461945	ensembl	human	known	74_37	rna	22.22	21	6	DEL	0.000:0.000	-
LRRC16A	55604	genome.wustl.edu	37	6	25495432	25495432	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:25495432T>C	ENST00000329474.6	+	16	1682	c.1314T>C	c.(1312-1314)ccT>ccC	p.P438P		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	438					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AACTGTCTCCTGAGCCCTTAA	0.373																																																	0													101.0	93.0	96.0					6																	25495432		1835	4080	5915	SO:0001819	synonymous_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1314T>C	6.37:g.25495432T>C			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P438	ENST00000329474.6	37	c.1314	CCDS54973.1	6																																																																																			LRRC16A	-	NULL	ENSG00000079691		0.373	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	-	0.00	35	0	T	NM_017640		25495432	+1	tier1	-	no_errors	ENST00000329474	ensembl	human	novel	74_37	silent	23.08	20	6	SNP	0.486	C
LRRC32	2615	genome.wustl.edu	37	11	76371703	76371703	+	Missense_Mutation	SNP	G	G	A	rs143082901		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:76371703G>A	ENST00000407242.2	-	3	1176	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.R312C|LRRC32_ENST00000260061.5_Missense_Mutation_p.R312C	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	312					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAAAGGGGGCGGCCGCTGGCA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17253	0.0		0.0	False		,,,				2504	0.001																0								G	CYS/ARG,CYS/ARG	0,4400		0,0,2200	19.0	23.0	22.0		934,934	-0.1	0.0	11	dbSNP_134	22	4,8580		0,4,4288	yes	missense,missense	LRRC32	NM_001128922.1,NM_005512.2	180,180	0,4,6488	AA,AG,GG		0.0466,0.0,0.0308	benign,benign	312/663,312/663	76371703	4,12980	2200	4292	6492	SO:0001583	missense	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.934C>T	11.37:g.76371703G>A	ENSP00000384126:p.Arg312Cys		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.R312C	ENST00000407242.2	37	c.934	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	G	0.816	-0.750423	0.03041	0.0	4.66E-4	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.04551	3.6;3.6;3.6	4.55	-0.0695	0.13751	.	1.521110	0.03962	N	0.290140	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.30439	0.279	B	0.12156	0.007	T	0.39921	-0.9590	10	0.35671	T	0.21	.	4.2556	0.10715	0.0763:0.2249:0.4468:0.252	.	312	Q14392	LRC32_HUMAN	C	312	ENSP00000260061:R312C;ENSP00000384126:R312C;ENSP00000385766:R312C	ENSP00000260061:R312C	R	-	1	0	LRRC32	76049351	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.254000	0.08781	0.152000	0.19188	0.555000	0.69702	CGC	LRRC32	-	NULL	ENSG00000137507		0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0.00	33	0	G	NM_005512		76371703	-1	tier1	rs143082901	no_errors	ENST00000260061	ensembl	human	known	74_37	missense	43.84	41	32	SNP	0.000	A
LRRC63	220416	genome.wustl.edu	37	13	46840913	46840913	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:46840913delC	ENST00000595396.1	+	8	1356	c.1356delC	c.(1354-1356)ttcfs	p.F452fs	LRRC63_ENST00000446175.1_Frame_Shift_Del_p.F452fs			Q05C16	LRC63_HUMAN	leucine rich repeat containing 63	452										lung(1)|ovary(1)	2						TGAGTTTTTTCCCCCATGGAA	0.299																																																	0																																										SO:0001589	frameshift_variant	0				CCDS61325.1	13q14.12	2014-02-12			ENSG00000173988	ENSG00000173988			34296	protein-coding gene	gene with protein product							Standard	NM_001282460		Approved	RP11-139H14.4	uc001vbc.3	Q05C16	OTTHUMG00000016866	ENST00000595396.1:c.1356delC	13.37:g.46840913delC	ENSP00000469337:p.Phe452fs		Q5TBN0	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.H454fs	ENST00000595396.1	37	c.1356		13																																																																																			LRRC63	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000173988		0.299	LRRC63-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	LRRC63	HGNC	protein_coding	OTTHUMT00000463266.1		0.00	40	0	C	XM_001718341		46840913	+1	tier1		no_errors	ENST00000446175	ensembl	human	known	74_37	frame_shift_del	33.33	28	14	DEL	0.118	-
LRRK1	79705	genome.wustl.edu	37	15	101549153	101549153	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:101549153A>G	ENST00000388948.3	+	7	1233	c.874A>G	c.(874-876)Acc>Gcc	p.T292A	LRRK1_ENST00000284395.5_Missense_Mutation_p.T289A	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGCCTGGCGACCCTCCCCTC	0.602											OREG0023521	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													86.0	89.0	88.0					15																	101549153		2037	4181	6218	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.874A>G	15.37:g.101549153A>G	ENSP00000373600:p.Thr292Ala	1359		Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.T292A	ENST00000388948.3	37	c.874	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	A	6.623	0.483380	0.12581	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.24908	1.83;1.83	5.43	4.3	0.51218	.	0.141564	0.48767	D	0.000177	T	0.12008	0.0292	N	0.03608	-0.345	0.27012	N	0.964673	B	0.02656	0.0	B	0.01281	0.0	T	0.15263	-1.0443	10	0.48119	T	0.1	.	10.7849	0.46398	0.1476:0.0:0.0:0.8524	.	292	Q38SD2	LRRK1_HUMAN	A	292;289	ENSP00000373600:T292A;ENSP00000284395:T289A	ENSP00000284395:T289A	T	+	1	0	LRRK1	99366676	0.934000	0.31675	0.317000	0.25265	0.044000	0.14063	1.401000	0.34589	0.878000	0.35920	-0.527000	0.04329	ACC	LRRK1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000154237		0.602	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	-	0.00	24	0	A	NM_024652		101549153	+1	tier1	-	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	74.14	15	43	SNP	0.739	G
LRRK2	120892	genome.wustl.edu	37	12	40699629	40699629	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:40699629G>A	ENST00000298910.7	+	28	3878	c.3820G>A	c.(3820-3822)Gat>Aat	p.D1274N		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1274					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GACATCTCTGGATGTCAGTTA	0.403																																																	0													91.0	89.0	90.0					12																	40699629		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3820G>A	12.37:g.40699629G>A	ENSP00000298910:p.Asp1274Asn		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.D1274N	ENST00000298910.7	37	c.3820	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884756	0.91814	.	.	ENSG00000188906	ENST00000298910	T	0.08546	3.08	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	N	0.25426	0.745	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.991	T	0.04203	-1.0969	10	0.26408	T	0.33	.	20.0897	0.97814	0.0:0.0:1.0:0.0	.	1274;1274	Q17RV3;Q5S007	.;LRRK2_HUMAN	N	1274	ENSP00000298910:D1274N	ENSP00000298910:D1274N	D	+	1	0	LRRK2	38985896	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	9.347000	0.97059	2.744000	0.94065	0.655000	0.94253	GAT	LRRK2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000188906		0.403	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0.00	46	0	G	XM_058513		40699629	+1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	39.58	29	19	SNP	1.000	A
LRRTM1	347730	genome.wustl.edu	37	2	80530816	80530816	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:80530816G>A	ENST00000295057.3	-	2	785	c.129C>T	c.(127-129)tgC>tgT	p.C43C	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.C43C	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	43	LRRNT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCTCGCACCGGCACAGCTGCG	0.697										HNSCC(69;0.2)																																							0													13.0	17.0	16.0					2																	80530816		2106	4163	6269	SO:0001819	synonymous_variant	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.129C>T	2.37:g.80530816G>A			A8K397|D6W5K1|Q96DN1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.C43	ENST00000295057.3	37	c.129	CCDS1966.1	2																																																																																			LRRTM1	-	NULL	ENSG00000162951		0.697	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	-	0.00	11	0	G	NM_178839		80530816	-1	tier1	-	no_errors	ENST00000295057	ensembl	human	known	74_37	silent	20.69	23	6	SNP	1.000	A
LYPD6B	130576	genome.wustl.edu	37	2	150071273	150071273	+	3'UTR	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:150071273delA	ENST00000409029.1	+	0	803				LYPD6B_ENST00000409642.3_3'UTR|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_3'UTR|LYPD6B_ENST00000409876.1_3'UTR			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						AGCACAAGCCAAAAACTGTGT	0.498																																																	0													84.0	83.0	83.0					2																	150071273		2002	4171	6173	SO:0001624	3_prime_UTR_variant	0				CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.*49A>-	2.37:g.150071273delA			D3DP90|Q53TK0|Q7Z747|Q8IXK7	RNA	DEL	-	NULL	ENST00000409029.1	37	NULL		2																																																																																			LYPD6B	-	-	ENSG00000150556		0.498	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	LYPD6B	HGNC	protein_coding	OTTHUMT00000332299.2		0.00	24	0	A	NM_177964		150071273	+1	tier1		no_errors	ENST00000498249	ensembl	human	known	74_37	rna	39.53	26	17	DEL	0.000	-
LZTR1	8216	genome.wustl.edu	37	22	21347194	21347194	+	Splice_Site	SNP	G	G	A	rs143868364	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:21347194G>A	ENST00000215739.8	+	11	1619		c.e11+1		LZTR1_ENST00000479606.1_Splice_Site|LZTR1_ENST00000389355.3_Splice_Site	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAGGTTCCAGGTGTGGGGCCT	0.632																																																	0													42.0	43.0	43.0					22																	21347194		2197	4300	6497	SO:0001630	splice_region_variant	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1260+1G>A	22.37:g.21347194G>A			Q14776|Q20WK0	Splice_Site	SNP	-	e11+1	ENST00000215739.8	37	c.1260+1	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904191	0.72754	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	.	.	.	5.18	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9807	0.35964	0.0995:0.0:0.9005:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LZTR1	19677194	1.000000	0.71417	0.995000	0.50966	0.925000	0.55904	9.470000	0.97683	2.582000	0.87167	0.655000	0.94253	.	LZTR1	-	-	ENSG00000099949		0.632	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0.00	25	0	G	NM_006767	Intron	21347194	+1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	splice_site	42.86	36	27	SNP	1.000	A
MACF1	23499	genome.wustl.edu	37	1	39789902	39789902	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:39789902A>G	ENST00000372915.3	+	33	4376	c.4289A>G	c.(4288-4290)aAg>aGg	p.K1430R	MACF1_ENST00000361689.2_Missense_Mutation_p.K1430R|MACF1_ENST00000567887.1_Missense_Mutation_p.K1462R|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.K1430R|MACF1_ENST00000317713.7_Missense_Mutation_p.K1430R|MACF1_ENST00000545844.1_Missense_Mutation_p.K1430R|MACF1_ENST00000564288.1_Missense_Mutation_p.K1425R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1430					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATGTGGAGAAGGTTAAAGAA	0.403																																																	0													96.0	92.0	93.0					1																	39789902		2203	4300	6503	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4289A>G	1.37:g.39789902A>G	ENSP00000362006:p.Lys1430Arg		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.K1430R	ENST00000372915.3	37	c.4289		1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.191671	0.78902	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262	T;T;T;T;T;T	0.65364	-0.12;-0.14;-0.12;-0.15;0.02;1.93	6.16	6.16	0.99307	.	.	.	.	.	T	0.71600	0.3359	L	0.41710	1.295	0.80722	D	1	D;P;P	0.76494	0.999;0.499;0.552	D;B;B	0.67725	0.953;0.112;0.36	T	0.71178	-0.4669	9	0.45353	T	0.12	.	16.4675	0.84087	1.0:0.0:0.0:0.0	.	1430;1430;1395	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	R	1430;1430;1430;1430;1430;1579	ENSP00000439537:K1430R;ENSP00000362006:K1430R;ENSP00000354573:K1430R;ENSP00000313438:K1430R;ENSP00000444364:K1430R;ENSP00000437059:K1579R	ENSP00000313438:K1430R	K	+	2	0	MACF1	39562489	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.387000	0.73191	2.367000	0.80283	0.528000	0.53228	AAG	MACF1	-	smart_Spectrin/alpha-actinin	ENSG00000127603		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0.00	43	0	A	NM_033044		39789902	+1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	34.09	29	15	SNP	1.000	G
MACF1	23499	genome.wustl.edu	37	1	39951743	39951743	+	3'UTR	DEL	A	A	-	rs3839022|rs551344914	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:39951743delA	ENST00000372915.3	+	0	22531				MACF1_ENST00000361689.2_3'UTR|MACF1_ENST00000567887.1_3'UTR|MACF1_ENST00000539005.1_3'UTR|MACF1_ENST00000317713.7_3'UTR|MACF1_ENST00000545844.1_3'UTR|MACF1_ENST00000289893.4_3'UTR|MACF1_ENST00000564288.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATGTGTATTAAAAAAAAAAA	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.*277A>-	1.37:g.39951743delA			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	RNA	DEL	-	NULL	ENST00000372915.3	37	NULL		1																																																																																			MACF1	-	-	ENSG00000127603		0.343	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1		0.00	35	0	A	NM_033044		39951743	+1	tier1		no_errors	ENST00000496360	ensembl	human	known	74_37	rna	53.85	18	21	DEL	0.084	-
MACF1	23499	genome.wustl.edu	37	1	39951776	39951776	+	3'UTR	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:39951776G>A	ENST00000372915.3	+	0	22564				MACF1_ENST00000361689.2_3'UTR|MACF1_ENST00000567887.1_3'UTR|MACF1_ENST00000539005.1_3'UTR|MACF1_ENST00000317713.7_3'UTR|MACF1_ENST00000545844.1_3'UTR|MACF1_ENST00000289893.4_3'UTR|MACF1_ENST00000564288.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGGTTTCTGCGCGGTGCAGGG	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.*310G>A	1.37:g.39951776G>A			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	RNA	SNP	-	NULL	ENST00000372915.3	37	NULL		1																																																																																			MACF1	-	-	ENSG00000127603		0.323	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0.00	35	0	G	NM_033044		39951776	+1	tier1	-	no_errors	ENST00000496360	ensembl	human	known	74_37	rna	15.22	39	7	SNP	0.939	A
MADCAM1	8174	genome.wustl.edu	37	19	504772	504772	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:504772C>T	ENST00000215637.3	+	5	1002	c.956C>T	c.(955-957)cCc>cTc	p.P319L	TPGS1_ENST00000359315.5_5'Flank|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Missense_Mutation_p.P232L|MADCAM1_ENST00000382683.4_Missense_Mutation_p.P137L|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P100L	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	319					aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCAGCTGCCCGCGGCTCTG	0.677																																																	0													49.0	55.0	53.0					19																	504772		2203	4299	6502	SO:0001583	missense	0			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.956C>T	19.37:g.504772C>T	ENSP00000215637:p.Pro319Leu		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom	p.P319L	ENST00000215637.3	37	c.956	CCDS12028.1	19	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919427	0.33908	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637;ENST00000346144;ENST00000382683	T;T	0.14893	2.93;2.47	3.9	3.9	0.45041	.	1.821150	0.02751	N	0.117496	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	B;P;P	0.44877	0.319;0.608;0.845	B;B;B	0.40329	0.104;0.146;0.326	T	0.36163	-0.9759	10	0.72032	D	0.01	.	11.582	0.50898	0.0:1.0:0.0:0.0	.	137;232;319	Q5UGI7;B2RPL9;Q13477	.;.;MADCA_HUMAN	L	343;335;327;319;232;137	ENSP00000215637:P319L;ENSP00000304247:P232L	ENSP00000215637:P319L	P	+	2	0	MADCAM1	455772	0.003000	0.15002	0.003000	0.11579	0.002000	0.02628	1.853000	0.39358	2.185000	0.69588	0.555000	0.69702	CCC	MADCAM1	-	NULL	ENSG00000099866		0.677	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MADCAM1	HGNC	protein_coding	OTTHUMT00000451884.1	-	0.00	31	0	C	NM_130760		504772	+1	tier1	-	no_errors	ENST00000215637	ensembl	human	known	74_37	missense	52.78	34	38	SNP	0.004	T
MAEA	10296	genome.wustl.edu	37	4	1332301	1332301	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:1332301G>A	ENST00000303400.4	+	8	1054	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	MAEA_ENST00000505177.2_Missense_Mutation_p.A369T|MAEA_ENST00000452175.2_Missense_Mutation_p.A252T|MAEA_ENST00000510794.1_Missense_Mutation_p.A330T|MAEA_ENST00000505839.1_Missense_Mutation_p.A283T|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000514708.1_Missense_Mutation_p.A263T|MAEA_ENST00000264750.6_Missense_Mutation_p.A290T	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	331					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	CCTGCCCATGGCCCACTGTGC	0.612																																																	0													54.0	49.0	51.0					4																	1332301		2203	4300	6503	SO:0001583	missense	0			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.991G>A	4.37:g.1332301G>A	ENSP00000302830:p.Ala331Thr		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.A331T	ENST00000303400.4	37	c.991	CCDS33936.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.201075	0.94997	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000452175;ENST00000514708;ENST00000510794;ENST00000505839	T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78	5.41	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.79123	2.44	0.80722	D	1	D;D;D;P;D;D	0.89917	0.999;0.995;0.999;0.955;0.999;1.0	D;D;D;P;D;D	0.80764	0.989;0.968;0.96;0.698;0.967;0.994	T	0.09885	-1.0654	10	0.42905	T	0.14	-17.2851	15.5775	0.76404	0.0:0.0:0.8611:0.1389	.	330;369;117;263;290;331	B4DVN3;E7ESC7;B3KRN7;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	T	331;369;290;263;310;252;263;330;283	ENSP00000302830:A331T;ENSP00000422215:A369T;ENSP00000264750:A290T;ENSP00000411415:A252T;ENSP00000427512:A263T;ENSP00000426807:A330T;ENSP00000424436:A283T	ENSP00000264750:A290T	A	+	1	0	MAEA	1322301	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.493000	0.97960	1.265000	0.44215	0.655000	0.94253	GCC	MAEA	-	NULL	ENSG00000090316		0.612	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEA	HGNC	protein_coding	OTTHUMT00000359511.1	-	0.00	50	0	G	NM_005882		1332301	+1	tier1	-	no_errors	ENST00000303400	ensembl	human	known	74_37	missense	45.76	64	54	SNP	1.000	A
MAOB	4129	genome.wustl.edu	37	X	43741511	43741511	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:43741511delC	ENST00000378069.4	-	1	182	c.35delG	c.(34-36)ggcfs	p.G13fs	MAOB_ENST00000536181.1_5'UTR|MAOB_ENST00000487544.1_5'UTR	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	13					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	TGAGATGCCGCCCCCCACCAC	0.701																																																	0													62.0	45.0	51.0					X																	43741511		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.35delG	X.37:g.43741511delC	ENSP00000367309:p.Gly13fs		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Frame_Shift_Del	DEL	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.G12fs	ENST00000378069.4	37	c.35	CCDS14261.1	X																																																																																			MAOB	-	pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	ENSG00000069535		0.701	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1		0.00	25	0	C	NM_000898		43741511	-1	tier1		no_errors	ENST00000378069	ensembl	human	known	74_37	frame_shift_del	72.41	8	21	DEL	1.000	-
MAGED1	9500	genome.wustl.edu	37	X	51639754	51639754	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:51639754C>T	ENST00000375722.1	+	4	1255	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	MAGED1_ENST00000375772.3_Missense_Mutation_p.P335S|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.P391S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P335S			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	335	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTGGCAGAACCCAGTCGCTTG	0.607										Multiple Myeloma(10;0.10)																																							0													63.0	59.0	61.0					X																	51639754		2203	4300	6503	SO:0001583	missense	0			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1003C>T	X.37:g.51639754C>T	ENSP00000364874:p.Pro335Ser		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P391S	ENST00000375722.1	37	c.1171	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528819	0.27387	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	3.67	3.67	0.42095	.	0.241909	0.21672	N	0.070850	T	0.34395	0.0896	L	0.38175	1.15	0.27805	N	0.94236	P;P	0.37731	0.607;0.473	B;B	0.38712	0.28;0.145	T	0.19224	-1.0312	10	0.06099	T	0.92	.	12.7603	0.57361	0.0:1.0:0.0:0.0	.	391;335	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	S	335;335;335;391	ENSP00000364927:P335S;ENSP00000364874:P335S;ENSP00000325333:P335S;ENSP00000364847:P391S	ENSP00000325333:P335S	P	+	1	0	MAGED1	51656494	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	2.502000	0.45398	1.779000	0.52309	0.284000	0.19432	CCA	MAGED1	-	NULL	ENSG00000179222		0.607	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	-	0.00	35	0	C	NM_001005332		51639754	+1	tier1	-	no_errors	ENST00000375695	ensembl	human	known	74_37	missense	73.21	15	41	SNP	0.934	T
MAP1A	4130	genome.wustl.edu	37	15	43817459	43817459	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:43817459C>T	ENST00000300231.5	+	4	4238	c.3788C>T	c.(3787-3789)gCg>gTg	p.A1263V	MAP1A_ENST00000382031.1_Missense_Mutation_p.A1501V|MAP1A_ENST00000399453.1_Missense_Mutation_p.A1263V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1263					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCAGCCACAGCGTCACCTCCC	0.542																																																	0													77.0	91.0	87.0					15																	43817459		2154	4260	6414	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3788C>T	15.37:g.43817459C>T	ENSP00000300231:p.Ala1263Val		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.A1263V	ENST00000300231.5	37	c.3788	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.252263	0.01469	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01246	5.11;5.11;5.11	4.98	-0.276	0.12902	.	.	.	.	.	T	0.00356	0.0011	N	0.00146	-1.995	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46569	-0.9182	9	0.09843	T	0.71	-0.3214	1.1408	0.01765	0.1408:0.1806:0.3209:0.3577	.	1263	P78559	MAP1A_HUMAN	V	1501;1263;1263	ENSP00000371462:A1501V;ENSP00000382380:A1263V;ENSP00000300231:A1263V	ENSP00000300231:A1263V	A	+	2	0	MAP1A	41604751	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-0.219000	0.09228	0.071000	0.16664	-0.339000	0.08088	GCG	MAP1A	-	NULL	ENSG00000166963		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	-	0.00	17	0	C	NM_002373		43817459	+1	tier1	-	no_errors	ENST00000399453	ensembl	human	known	74_37	missense	75.76	8	25	SNP	0.000	T
MAP2	4133	genome.wustl.edu	37	2	210561667	210561667	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:210561667delA	ENST00000360351.4	+	9	4920	c.4414delA	c.(4414-4416)aaafs	p.K1473fs	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Frame_Shift_Del_p.K1469fs|MAP2_ENST00000475600.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1473					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.T1474fs*14(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGAACTTGCTAAAAAAACAGA	0.368																																					Pancreas(27;423 979 28787 29963)												1	Deletion - Frameshift(1)	large_intestine(1)											47.0	49.0	48.0					2																	210561667		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4414delA	2.37:g.210561667delA	ENSP00000353508:p.Lys1473fs		Q17S04|Q8IUX2|Q99975|Q99976	Frame_Shift_Del	DEL	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.T1474fs	ENST00000360351.4	37	c.4414	CCDS2384.1	2																																																																																			MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.368	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2		0.00	27	0	A	NM_001039538		210561667	+1	tier1		no_errors	ENST00000360351	ensembl	human	known	74_37	frame_shift_del	10.42	43	5	DEL	1.000	-
MAP2K1	5604	genome.wustl.edu	37	15	66777404	66777404	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:66777404C>T	ENST00000307102.5	+	7	1301	c.770C>T	c.(769-771)gCg>gTg	p.A257V	MAP2K1_ENST00000566326.1_Missense_Mutation_p.A81V	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	GTAGAGATGGCGGTTGGGAGG	0.572																																																	0													120.0	109.0	113.0					15																	66777404		2201	4299	6500	SO:0001583	missense	0			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.770C>T	15.37:g.66777404C>T	ENSP00000302486:p.Ala257Val			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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A257V	ENST00000307102.5	37	c.770	CCDS10216.1	15	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245248	0.80024	.	.	ENSG00000169032	ENST00000307102	T	0.64991	-0.13	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	L	0.39566	1.225	0.80722	D	1	P;P	0.49307	0.922;0.697	B;B	0.38458	0.274;0.274	T	0.62388	-0.6865	10	0.62326	D	0.03	-22.2226	18.2547	0.90015	0.0:1.0:0.0:0.0	.	235;257	B4DFY5;Q02750	.;MP2K1_HUMAN	V	257	ENSP00000302486:A257V	ENSP00000302486:A257V	A	+	2	0	MAP2K1	64564458	1.000000	0.71417	0.962000	0.40283	0.886000	0.51366	7.726000	0.84824	2.545000	0.85829	0.467000	0.42956	GCG	MAP2K1	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000169032		0.572	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K1	HGNC	protein_coding	OTTHUMT00000256906.4	-	0.00	43	0	C			66777404	+1	tier1	-	no_errors	ENST00000307102	ensembl	human	known	74_37	missense	81.25	12	52	SNP	1.000	T
MAP3K11	4296	genome.wustl.edu	37	11	65374944	65374944	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:65374944C>T	ENST00000530153.1	-	5	1036	c.515G>A	c.(514-516)cGc>cAc	p.R172H	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Missense_Mutation_p.R429H|MAP3K11_ENST00000532507.1_5'Flank					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CCGCTGCTCGCGCGCCGCTCG	0.711																																																	0													8.0	9.0	9.0					11																	65374944		2046	4093	6139	SO:0001583	missense	0				CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.515G>A	11.37:g.65374944C>T	ENSP00000433886:p.Arg172His			Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.R429H	ENST00000530153.1	37	c.1286		11	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832407	0.50845	.	.	ENSG00000173327	ENST00000309100;ENST00000530153	T;T	0.75477	-0.81;-0.94	4.61	4.61	0.57282	.	0.337351	0.28865	N	0.013888	T	0.71400	0.3335	L	0.29908	0.895	0.37201	D	0.904392	D	0.63046	0.992	P	0.55222	0.771	T	0.73701	-0.3900	10	0.39692	T	0.17	.	10.362	0.44001	0.1958:0.8042:0.0:0.0	.	429	Q16584	M3K11_HUMAN	H	429;172	ENSP00000309597:R429H;ENSP00000433886:R172H	ENSP00000309597:R429H	R	-	2	0	MAP3K11	65131520	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	4.138000	0.58017	2.550000	0.86006	0.491000	0.48974	CGC	MAP3K11	-	pirsf_MAPKKK9/10/11	ENSG00000173327		0.711	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390233.2		0.00	10	0	C			65374944	-1			no_errors	ENST00000309100	ensembl	human	known	74_37	missense	10.00	54	6	SNP	0.998	T
MAP3K19	80122	genome.wustl.edu	37	2	135763096	135763096	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:135763096G>A	ENST00000375845.3	-	3	174	c.144C>T	c.(142-144)ttC>ttT	p.F48F	MAP3K19_ENST00000392918.3_Silent_p.F48F|MAP3K19_ENST00000392915.1_Silent_p.F65F|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Silent_p.F48F|MAP3K19_ENST00000392917.3_Silent_p.F48F|MAP3K19_ENST00000358371.4_Silent_p.F48F	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	48							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CATCTTGGTCGAACTCCTGCA	0.423																																																	0													111.0	96.0	101.0					2																	135763096		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.144C>T	2.37:g.135763096G>A			B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F48	ENST00000375845.3	37	c.144	CCDS2176.2	2																																																																																			MAP3K19	-	NULL	ENSG00000176601		0.423	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	-	0.00	54	0	G	NM_025052		135763096	-1	tier1	-	no_errors	ENST00000375845	ensembl	human	known	74_37	silent	44.44	45	36	SNP	0.993	A
MAP3K4	4216	genome.wustl.edu	37	6	161455391	161455391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:161455391delC	ENST00000392142.4	+	2	401	c.253delC	c.(253-255)cccfs	p.P86fs	MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.P86fs|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366920.2_Frame_Shift_Del_p.P86fs|MAP3K4_ENST00000348824.7_Frame_Shift_Del_p.P86fs	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	86					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGGTACCTCTCCCCCCAGCAC	0.473																																																	0													90.0	87.0	88.0					6																	161455391		2203	4300	6503	SO:0001589	frameshift_variant	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.253delC	6.37:g.161455391delC	ENSP00000375986:p.Pro86fs		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Frame_Shift_Del	DEL	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.S87fs	ENST00000392142.4	37	c.253	CCDS34565.1	6																																																																																			MAP3K4	-	NULL	ENSG00000085511		0.473	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3		0.00	44	0	C			161455391	+1	tier1		no_errors	ENST00000392142	ensembl	human	known	74_37	frame_shift_del	30.36	39	17	DEL	1.000	-
MAP4K4	9448	genome.wustl.edu	37	2	102456423	102456423	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:102456423A>G	ENST00000347699.4	+	10	916	c.916A>G	c.(916-918)Ata>Gta	p.I306V	MAP4K4_ENST00000413150.2_Missense_Mutation_p.I306V|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.I286V|MAP4K4_ENST00000425019.1_Missense_Mutation_p.I306V|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Missense_Mutation_p.I306V|MAP4K4_ENST00000324219.4_Missense_Mutation_p.I306V	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	306					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAAGGATCATATAGATCGTAC	0.388																																																	0													80.0	74.0	76.0					2																	102456423		1860	4098	5958	SO:0001583	missense	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.916A>G	2.37:g.102456423A>G	ENSP00000314363:p.Ile306Val		O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.I306V	ENST00000347699.4	37	c.916	CCDS56130.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.47|17.47	3.397105|3.397105	0.62177|0.62177	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000413150;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T|.	0.74632|.	1.04;-0.72;1.01;1.01;-0.72;-0.86;-0.7|.	5.91|5.91	4.71|4.71	0.59529|0.59529	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72003|0.72003	0.3407|0.3407	M|M	0.70275|0.70275	2.135|2.135	0.54753|0.54753	D|D	0.99998|0.99998	B;D;P;P;P;B;B;P;B;B|.	0.54207|.	0.329;0.965;0.847;0.722;0.817;0.013;0.013;0.905;0.022;0.022|.	B;P;P;B;P;B;B;P;B;B|.	0.53912|.	0.192;0.696;0.55;0.445;0.737;0.013;0.013;0.653;0.03;0.03|.	T|T	0.72478|0.72478	-0.4281|-0.4281	10|5	0.87932|.	D|.	0|.	.|.	13.3524|13.3524	0.60609|0.60609	0.869:0.131:0.0:0.0|0.869:0.131:0.0:0.0	.|.	286;306;306;286;306;306;306;306;306;306|.	B7Z388;B7Z3V5;E7ENQ1;E7ESS2;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	V|C	306;306;306;306;306;268;286|45	ENSP00000392830:I306V;ENSP00000313644:I306V;ENSP00000281111:I306V;ENSP00000389752:I306V;ENSP00000314363:I306V;ENSP00000409720:I268V;ENSP00000343658:I286V|.	ENSP00000313644:I306V|.	I|Y	+|+	1|2	0|0	MAP4K4|MAP4K4	101822855|101822855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.288000|7.288000	0.78691|0.78691	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	ATA|TAT	MAP4K4	-	superfamily_Kinase-like_dom	ENSG00000071054		0.388	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	-	0.00	42	0	A	NM_004834		102456423	+1	tier1	-	no_errors	ENST00000324219	ensembl	human	known	74_37	missense	39.66	35	23	SNP	1.000	G
MAP7D1	55700	genome.wustl.edu	37	1	36642154	36642154	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:36642154C>T	ENST00000373151.2	+	7	1421	c.1205C>T	c.(1204-1206)cCg>cTg	p.P402L	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P370L|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000316156.4_Missense_Mutation_p.P365L	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	402					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGCCCCGCTCCGGTGCGCCGC	0.781																																																	0																																										SO:0001583	missense	0			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1205C>T	1.37:g.36642154C>T	ENSP00000362244:p.Pro402Leu		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	pfam_MAP7	p.P402L	ENST00000373151.2	37	c.1205	CCDS30673.1	1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798982	0.50208	.	.	ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151	T;T;T	0.07567	3.67;3.18;3.67	5.51	-6.05	0.02172	.	1.963970	0.02771	N	0.119722	T	0.03871	0.0109	N	0.08118	0	0.09310	N	0.999999	B;B;B;B	0.16166	0.016;0.0;0.006;0.016	B;B;B;B	0.08055	0.001;0.0;0.002;0.003	T	0.38067	-0.9678	10	0.17369	T	0.5	1.5297	7.5355	0.27708	0.2197:0.1596:0.0:0.6207	.	402;365;370;402	D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;.;MA7D1_HUMAN	L	365;370;402	ENSP00000320228:P365L;ENSP00000362243:P370L;ENSP00000362244:P402L	ENSP00000320228:P365L	P	+	2	0	MAP7D1	36414741	0.000000	0.05858	0.000000	0.03702	0.323000	0.28346	0.020000	0.13466	-1.485000	0.01854	-0.127000	0.14921	CCG	MAP7D1	-	NULL	ENSG00000116871		0.781	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	HGNC	protein_coding	OTTHUMT00000382095.1	-	0.00	22	0	C	NM_018067		36642154	+1	tier1	-	no_errors	ENST00000373151	ensembl	human	known	74_37	missense	64.29	10	18	SNP	0.000	T
MAP9	79884	genome.wustl.edu	37	4	156281335	156281335	+	Silent	SNP	T	T	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:156281335T>G	ENST00000311277.4	-	7	1298	c.1035A>C	c.(1033-1035)gcA>gcC	p.A345A	AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000598252.1_RNA|MAP9_ENST00000515654.1_Silent_p.A321A|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000600928.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	345					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AAGATGCTGTTGCACTGGTAG	0.308																																																	0													103.0	102.0	102.0					4																	156281335		2202	4300	6502	SO:0001819	synonymous_variant	0			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1035A>C	4.37:g.156281335T>G			Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Silent	SNP	NULL	p.A345	ENST00000311277.4	37	c.1035	CCDS35493.1	4																																																																																			MAP9	-	NULL	ENSG00000164114		0.308	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	-	0.00	62	0	T	NM_001039580		156281335	-1	tier1	-	no_errors	ENST00000311277	ensembl	human	known	74_37	silent	29.79	33	14	SNP	0.082	G
MARCH4	57574	genome.wustl.edu	37	2	217234779	217234779	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:217234779delG	ENST00000273067.4	-	1	1971	c.205delC	c.(205-207)cagfs	p.Q69fs		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	69	Pro-rich.					Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCGGGGGGCTGGGGGTCGCCG	0.701																																																	0													4.0	5.0	5.0					2																	217234779		2099	4083	6182	SO:0001589	frameshift_variant	0			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.205delC	2.37:g.217234779delG	ENSP00000273067:p.Gln69fs		Q4KMN7|Q86WR8	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.Q69fs	ENST00000273067.4	37	c.205	CCDS33376.1	2																																																																																			MARCH4	-	NULL	ENSG00000144583		0.701	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2		0.00	18	0	G	NM_020814		217234779	-1	tier1		no_errors	ENST00000273067	ensembl	human	known	74_37	frame_shift_del	48.48	17	16	DEL	1.000	-
MARCO	8685	genome.wustl.edu	37	2	119739053	119739053	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:119739053A>G	ENST00000327097.4	+	9	970	c.835A>G	c.(835-837)Aaa>Gaa	p.K279E	MARCO_ENST00000541757.1_Missense_Mutation_p.K201E	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	279	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCAGGGGAGTAAAGGTGACTT	0.527																																					GBM(8;18 374 7467 11269 32796)												0													32.0	34.0	34.0					2																	119739053		2203	4300	6503	SO:0001583	missense	0			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.835A>G	2.37:g.119739053A>G	ENSP00000318916:p.Lys279Glu		B4DW79|Q9Y5S3	Missense_Mutation	SNP	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.K279E	ENST00000327097.4	37	c.835	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	A	11.52	1.662151	0.29515	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.83673	-1.75;-1.75	5.33	4.12	0.48240	.	0.138892	0.46442	D	0.000299	D	0.87196	0.6117	M	0.71296	2.17	0.37328	D	0.909857	D	0.61697	0.99	P	0.60682	0.878	D	0.88432	0.3036	9	.	.	.	.	9.3802	0.38309	0.8214:0.1786:0.0:0.0	.	279	Q9UEW3	MARCO_HUMAN	E	279;279;201	ENSP00000318916:K279E;ENSP00000441769:K201E	.	K	+	1	0	MARCO	119455523	0.914000	0.31030	0.927000	0.36925	0.744000	0.42396	1.768000	0.38511	2.240000	0.73641	0.533000	0.62120	AAA	MARCO	-	NULL	ENSG00000019169		0.527	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	-	0.00	20	0	A	NM_006770		119739053	+1	tier1	-	no_errors	ENST00000327097	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.851	G
MAST2	23139	genome.wustl.edu	37	1	46499903	46499903	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:46499903A>G	ENST00000361297.2	+	28	4116	c.3833A>G	c.(3832-3834)cAa>cGa	p.Q1278R	MAST2_ENST00000372009.2_Missense_Mutation_p.Q1185R	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TCTCCCACTCAAGGCTACCGG	0.597																																																	0													62.0	66.0	65.0					1																	46499903		1960	4163	6123	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3833A>G	1.37:g.46499903A>G	ENSP00000354671:p.Gln1278Arg			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.Q1278R	ENST00000361297.2	37	c.3833	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	a	13.57	2.277154	0.40294	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.32988	1.43;1.43	4.43	4.43	0.53597	.	0.268520	0.38111	N	0.001811	T	0.48537	0.1505	M	0.68317	2.08	0.52501	D	0.999958	D;P	0.63880	0.993;0.647	D;B	0.70227	0.968;0.271	T	0.43589	-0.9382	10	0.12103	T	0.63	-5.363	13.8769	0.63657	1.0:0.0:0.0:0.0	.	1185;1278	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	R	1278;1185	ENSP00000354671:Q1278R;ENSP00000361079:Q1185R	ENSP00000354671:Q1278R	Q	+	2	0	MAST2	46272490	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.069000	0.71209	1.859000	0.53934	0.451000	0.29950	CAA	MAST2	-	NULL	ENSG00000086015		0.597	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	-	0.00	24	0	A	NM_015112		46499903	+1	tier1	-	no_errors	ENST00000361297	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	G
MAST2	23139	genome.wustl.edu	37	1	46501229	46501229	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:46501229C>A	ENST00000361297.2	+	29	5171	c.4888C>A	c.(4888-4890)Ctt>Att	p.L1630I	MAST2_ENST00000372009.2_Missense_Mutation_p.L1440I	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACTAACAGCACTTTCTCCCAG	0.597																																																	0													45.0	50.0	48.0					1																	46501229		2052	4199	6251	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4888C>A	1.37:g.46501229C>A	ENSP00000354671:p.Leu1630Ile			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.L1630I	ENST00000361297.2	37	c.4888	CCDS41326.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.51|18.51	3.639742|3.639742	0.67244|0.67244	.|.	.|.	ENSG00000086015|ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625|ENST00000432341	T;T|.	0.74947|.	-0.41;-0.89|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	4.227850|.	0.00741|.	N|.	0.001014|.	T|T	0.34483|0.34483	0.0899|0.0899	N|N	0.24115|0.24115	0.695|0.695	0.24512|0.24512	N|N	0.994203|0.994203	D;D|.	0.61697|.	0.99;0.99|.	P;P|.	0.54759|.	0.76;0.76|.	T|T	0.18935|0.18935	-1.0321|-1.0321	10|6	0.34782|0.15952	T|T	0.22|0.53	-13.6814|-13.6814	14.6356|14.6356	0.68686|0.68686	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1440;1630|.	E7ERL6;Q6P0Q8|.	.;MAST2_HUMAN|.	I|N	1630;1440;317|598	ENSP00000354671:L1630I;ENSP00000361079:L1440I|.	ENSP00000354671:L1630I|ENSP00000396690:T598N	L|T	+|+	1|2	0|0	MAST2|MAST2	46273816|46273816	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.452000|0.452000	0.32318|0.32318	0.722000|0.722000	0.25925|0.25925	2.494000|2.494000	0.84150|0.84150	0.556000|0.556000	0.70494|0.70494	CTT|ACT	MAST2	-	NULL	ENSG00000086015		0.597	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	-	0.00	22	0	C	NM_015112		46501229	+1	tier1	-	no_errors	ENST00000361297	ensembl	human	known	74_37	missense	18.75	25	6	SNP	1.000	A
MAVS	57506	genome.wustl.edu	37	20	3845276	3845276	+	Silent	SNP	T	T	C	rs374618610		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:3845276T>C	ENST00000428216.2	+	6	1127	c.999T>C	c.(997-999)ccT>ccC	p.P333P	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.P192P	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	333					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CAAAGCCCCCTGGTGCAGTGC	0.557																																																	0								T	,	1,4405	2.1+/-5.4	0,1,2202	129.0	115.0	119.0		576,999	-0.8	0.1	20		119	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MAVS	NM_001206491.1,NM_020746.4	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	192/400,333/541	3845276	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.999T>C	20.37:g.3845276T>C			A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	NULL	p.P333	ENST00000428216.2	37	c.999	CCDS33437.1	20																																																																																			MAVS	-	NULL	ENSG00000088888		0.557	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAVS	HGNC	protein_coding	OTTHUMT00000077784.3	-	0.00	29	0	T	NM_020746		3845276	+1	tier1	-	no_errors	ENST00000428216	ensembl	human	known	74_37	silent	32.86	46	23	SNP	0.203	C
MAZ	4150	genome.wustl.edu	37	16	29821568	29821568	+	3'UTR	SNP	C	C	T	rs571424053		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:29821568C>T	ENST00000322945.6	+	0	1615				MAZ_ENST00000545521.1_3'UTR|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000563402.1_Missense_Mutation_p.A140V|MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000300797.6_5'Flank|AC009133.15_ENST00000566537.1_RNA|PRRT2_ENST00000358758.7_5'Flank|AC009133.14_ENST00000563806.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_3'UTR|MAZ_ENST00000566906.2_Missense_Mutation_p.A138V|MAZ_ENST00000568544.1_3'UTR|AC009133.14_ENST00000569981.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AAGTTGGTTGCGGGGGAGAGG	0.622																																					Colon(72;875 1167 15364 30899 37091)												0													5.0	7.0	6.0					16																	29821568		1885	4071	5956	SO:0001624	3_prime_UTR_variant	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.*16C>T	16.37:g.29821568C>T			A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	NULL	p.A140V	ENST00000322945.6	37	c.419	CCDS42143.1	16																																																																																			MAZ	-	NULL	ENSG00000103495		0.622	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1	-	0.00	27	0	C	NM_002383		29821568	+1	tier1	-	no_errors	ENST00000563402	ensembl	human	novel	74_37	missense	27.78	13	5	SNP	0.133	T
MBD1	4152	genome.wustl.edu	37	18	47802303	47802304	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:47802303_47802304delCA	ENST00000591416.1	-	7	995_996	c.564_565delTG	c.(562-567)tgtgggfs	p.CG188fs	MBD1_ENST00000590208.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000398488.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.CG214fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000269468.5_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.CG188fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	188					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GAGCAGGCCCCACAGTCTTCTG	0.624																																																	0																																										SO:0001589	frameshift_variant	0			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.564_565delTG	18.37:g.47802305_47802306delCA	ENSP00000467017:p.Cys188fs		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Frame_Shift_Del	DEL	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.C214fs	ENST00000591416.1	37	c.643_642	CCDS11943.1	18																																																																																			MBD1	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000141644		0.624	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3		0.00	21	0	CA	NM_015846		47802304	-1	tier1		no_errors	ENST00000424334	ensembl	human	known	74_37	frame_shift_del	14.58	41	7	DEL	1.000:0.747	-
MBIP	51562	genome.wustl.edu	37	14	36770037	36770037	+	Intron	DEL	A	A	-	rs79987603		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:36770037delA	ENST00000416007.4	-	8	976				MBIP_ENST00000318473.7_Intron|MBIP_ENST00000359527.7_Intron	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GCTCTAGATTAAAAAAAAAAA	0.279																																																	0									,	80,359,3749		2,0,76,2,355,1659	22.0	24.0	23.0		,	-4.8	0.0	14	dbSNP_131	25	127,760,7263		1,4,121,6,744,3199	no	intron,intron	MBIP	NM_016586.2,NM_001144891.1	,	3,4,197,8,1099,4858	A1A1,A1A2,A1R,A2A2,A2R,RR		10.8834,10.4823,10.7473	,	,	36770037	207,1119,11012	2175	4261	6436	SO:0001627	intron_variant	0			BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.889-8T>-	14.37:g.36770037delA			Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	RNA	DEL	-	NULL	ENST00000416007.4	37	NULL	CCDS9658.1	14																																																																																			MBIP	-	-	ENSG00000151332		0.279	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBIP	HGNC	protein_coding	OTTHUMT00000276685.2		0.00	28	0	A	NM_016586		36770037	-1	tier1		no_errors	ENST00000604154	ensembl	human	putative	74_37	rna	36.36	21	12	DEL	0.241	-
MCTP2	55784	genome.wustl.edu	37	15	94858854	94858854	+	Nonsense_Mutation	SNP	C	C	T	rs200389318		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:94858854C>T	ENST00000357742.4	+	3	625	c.625C>T	c.(625-627)Cga>Tga	p.R209*	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Nonsense_Mutation_p.R209*|MCTP2_ENST00000451018.3_Nonsense_Mutation_p.R209*	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	209	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCTGGTTGTCCGAGATCGCTG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		18109	0.0		0.0	False		,,,				2504	0.001																0													167.0	140.0	149.0					15																	94858854		2197	4298	6495	SO:0001587	stop_gained	0			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.625C>T	15.37:g.94858854C>T	ENSP00000350377:p.Arg209*		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Nonsense_Mutation	SNP	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R209*	ENST00000357742.4	37	c.625	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753486	0.89753	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	.	.	.	6.07	4.02	0.46733	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1985	0.48728	0.4629:0.537:0.0:0.0	.	.	.	.	X	209	.	ENSP00000350377:R209X	R	+	1	2	MCTP2	92659858	1.000000	0.71417	0.998000	0.56505	0.343000	0.28985	2.178000	0.42519	1.535000	0.49220	0.655000	0.94253	CGA	MCTP2	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000140563		0.527	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	-	0.00	90	0	C	NM_018349		94858854	+1	tier1	rs200389318	no_errors	ENST00000357742	ensembl	human	known	74_37	nonsense	68.48	52	113	SNP	1.000	T
MDGA1	266727	genome.wustl.edu	37	6	37619877	37619877	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:37619877T>C	ENST00000434837.3	-	7	2400	c.1222A>G	c.(1222-1224)Agt>Ggt	p.S408G	MDGA1_ENST00000297153.7_Missense_Mutation_p.S408G|MDGA1_ENST00000505425.1_Missense_Mutation_p.S408G	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	408	Ig-like 4.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CCATAGTCACTGAAGTGCAGG	0.612																																																	0													45.0	47.0	47.0					6																	37619877		2044	4201	6245	SO:0001583	missense	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1222A>G	6.37:g.37619877T>C	ENSP00000402584:p.Ser408Gly		A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.S408G	ENST00000434837.3	37	c.1222	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	T	18.02	3.531032	0.64972	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.16196	2.36;2.36;2.36	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000013	T	0.08268	0.0206	L	0.35414	1.06	0.39556	D	0.969041	B	0.33777	0.425	B	0.34418	0.182	T	0.07195	-1.0785	10	0.62326	D	0.03	.	14.5453	0.68027	0.0:0.0:0.0:1.0	.	408	Q8NFP4	MDGA1_HUMAN	G	408	ENSP00000402584:S408G;ENSP00000297153:S408G;ENSP00000422042:S408G	ENSP00000297153:S408G	S	-	1	0	MDGA1	37727855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.102000	0.57776	2.042000	0.60477	0.533000	0.62120	AGT	MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112139		0.612	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3		0.00	38	0	T			37619877	-1			no_errors	ENST00000297153	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	C
MDGA2	161357	genome.wustl.edu	37	14	47530771	47530771	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:47530771delT	ENST00000399232.2	-	7	1363	c.999delA	c.(997-999)aaafs	p.K333fs	MDGA2_ENST00000439988.3_Frame_Shift_Del_p.K402fs|MDGA2_ENST00000426342.1_Frame_Shift_Del_p.K104fs|MDGA2_ENST00000357362.3_Frame_Shift_Del_p.K104fs	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	333					pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAAATCGTCCTTTTTTTAATG	0.353																																																	0													52.0	49.0	50.0					14																	47530771		1822	4084	5906	SO:0001589	frameshift_variant	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.999delA	14.37:g.47530771delT	ENSP00000382178:p.Lys333fs		F6W3S7|J3KPX6	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.G403fs	ENST00000399232.2	37	c.1206		14																																																																																			MDGA2	-	NULL	ENSG00000272781		0.353	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5		0.00	16	0	T	NM_182830		47530771	-1	tier1		no_errors	ENST00000439988	ensembl	human	known	74_37	frame_shift_del	20.83	19	5	DEL	1.000	-
MDM2	4193	genome.wustl.edu	37	12	69233090	69233090	+	Frame_Shift_Del	DEL	C	C	-	rs577942747		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:69233090delC	ENST00000350057.5	+	9	862	c.862delC	c.(862-864)cccfs	p.P289fs	MDM2_ENST00000462284.1_Frame_Shift_Del_p.P320fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Frame_Shift_Del_p.P88fs|MDM2_ENST00000540827.1_Frame_Shift_Del_p.P119fs|MDM2_ENST00000360430.2_Frame_Shift_Del_p.P119fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258148.7_Frame_Shift_Del_p.P265fs|MDM2_ENST00000393413.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000299252.4_Frame_Shift_Del_p.P144fs|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Frame_Shift_Del_p.P93fs|MDM2_ENST00000356290.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000393410.1_Frame_Shift_Del_p.P66fs|MDM2_ENST00000258149.5_Frame_Shift_Del_p.P259fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000393412.3_Frame_Shift_Del_p.P41fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	314	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGAAATGAATCCCCCCCTTCC	0.428			A		"""sarcoma, glioma, colorectal, other"""																																			Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"""M, O, E, L"""	0													114.0	100.0	105.0					12																	69233090		1877	4119	5996	SO:0001589	frameshift_variant	0				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.862delC	12.37:g.69233090delC	ENSP00000266624:p.Pro289fs		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Del	DEL	pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.L321fs	ENST00000350057.5	37	c.955		12																																																																																			MDM2	-	pfam_Znf_RanBP2,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2	ENSG00000135679		0.428	MDM2-033	NOVEL	basic|exp_conf	protein_coding	MDM2	HGNC	protein_coding	OTTHUMT00000402665.1		0.00	23	0	C	NM_006880		69233090	+1	tier1		no_errors	ENST00000462284	ensembl	human	known	74_37	frame_shift_del	20.00	28	7	DEL	1.000	-
MED13L	23389	genome.wustl.edu	37	12	116418612	116418612	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:116418612T>C	ENST00000281928.3	-	23	5513	c.5307A>G	c.(5305-5307)aaA>aaG	p.K1769K		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1769						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCGTGAGGGATTTAATGTGGA	0.448																																																	0													98.0	98.0	98.0					12																	116418612		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5307A>G	12.37:g.116418612T>C			A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.K1769	ENST00000281928.3	37	c.5307	CCDS9177.1	12																																																																																			MED13L	-	pfam_Mediator_Med13	ENSG00000123066		0.448	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0.00	35	0	T			116418612	-1	tier1	-	no_errors	ENST00000281928	ensembl	human	known	74_37	silent	53.49	20	23	SNP	1.000	C
MED16	10025	genome.wustl.edu	37	19	875405	875405	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:875405G>A	ENST00000589119.1	-	9	1609	c.1610C>T	c.(1609-1611)tCg>tTg	p.S537L	MED16_ENST00000312090.6_Missense_Mutation_p.S537L|MED16_ENST00000395808.3_Missense_Mutation_p.S537L|MED16_ENST00000325464.1_Missense_Mutation_p.S537L|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.S537L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	537					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGCAGGGCGACAGCTTGCA	0.662																																																	0													57.0	50.0	52.0					19																	875405		2201	4298	6499	SO:0001583	missense	0			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1610C>T	19.37:g.875405G>A	ENSP00000464810:p.Ser537Leu		Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S537L	ENST00000589119.1	37	c.1610	CCDS12047.1	19	.	.	.	.	.	.	.	.	.	.	G	25.1	4.597963	0.87055	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T	0.47869	1.4;0.83;0.83	4.2	4.2	0.49525	.	0.147213	0.47455	D	0.000223	T	0.60117	0.2244	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.997;0.998;0.998;0.998	D;D;D;D;D	0.79108	0.986;0.968;0.986;0.986;0.992	T	0.59825	-0.7381	10	0.39692	T	0.17	-24.8427	15.8813	0.79207	0.0:0.0:1.0:0.0	.	537;537;537;537;537	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	L	537;537;537;537;468;393;298;296;255;537	ENSP00000325612:S537L;ENSP00000308528:S537L;ENSP00000379153:S537L	ENSP00000269814:S537L	S	-	2	0	MED16	826405	1.000000	0.71417	0.892000	0.35008	0.775000	0.43874	8.990000	0.93510	2.047000	0.60756	0.561000	0.74099	TCG	MED16	-	pfam_Mediator_Med16	ENSG00000175221		0.662	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	HGNC	protein_coding	OTTHUMT00000457902.3		0.00	31	0	G	NM_005481		875405	-1			no_errors	ENST00000325464	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.998	A
MED17	9440	genome.wustl.edu	37	11	93521196	93521196	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:93521196C>T	ENST00000251871.3	+	2	567	c.280C>T	c.(280-282)Cct>Tct	p.P94S	MED17_ENST00000530819.1_Missense_Mutation_p.P94S	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	94					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCCCTTTGGCCTTGGGACTC	0.383																																																	0													134.0	135.0	134.0					11																	93521196		2201	4298	6499	SO:0001583	missense	0			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.280C>T	11.37:g.93521196C>T	ENSP00000251871:p.Pro94Ser		B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	pfam_Mediator_Med17	p.P94S	ENST00000251871.3	37	c.280	CCDS8295.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.210669	0.95069	.	.	ENSG00000042429	ENST00000251871;ENST00000530819;ENST00000427225;ENST00000533359	T;T;T	0.69435	-0.4;0.17;0.26	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	M	0.73217	2.22	0.80722	D	1	P;D	0.63046	0.924;0.992	P;P	0.57468	0.821;0.813	T	0.80216	-0.1474	10	0.59425	D	0.04	-17.7139	19.7167	0.96124	0.0:1.0:0.0:0.0	.	94;94	Q9NVC6;Q9NVC6-2	MED17_HUMAN;.	S	94;94;64;94	ENSP00000251871:P94S;ENSP00000434459:P94S;ENSP00000431524:P94S	ENSP00000251871:P94S	P	+	1	0	MED17	93160844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.706000	0.84615	2.673000	0.90976	0.650000	0.86243	CCT	MED17	-	pfam_Mediator_Med17	ENSG00000042429		0.383	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED17	HGNC	protein_coding	OTTHUMT00000394800.2	-	0.00	57	0	C	NM_004268		93521196	+1	tier1	-	no_errors	ENST00000251871	ensembl	human	known	74_37	missense	40.00	30	20	SNP	1.000	T
MEGF6	1953	genome.wustl.edu	37	1	3519090	3519090	+	Missense_Mutation	SNP	G	G	A	rs373558942		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:3519090G>A	ENST00000356575.4	-	2	432	c.206C>T	c.(205-207)aCg>aTg	p.T69M		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	69	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T69M(1)		cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CACCGGCACCGTGTGGCTTAA	0.682																																					Ovarian(73;978 3658)												1	Substitution - Missense(1)	large_intestine(1)						G	MET/THR	0,4256		0,0,2128	22.0	29.0	27.0		206	-8.9	0.0	1		27	2,8438		0,2,4218	no	missense	MEGF6	NM_001409.3	81	0,2,6346	AA,AG,GG		0.0237,0.0,0.0158	benign	69/1542	3519090	2,12694	2128	4220	6348	SO:0001583	missense	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.206C>T	1.37:g.3519090G>A	ENSP00000348982:p.Thr69Met		Q4AC86|Q5VV39	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.T69M	ENST00000356575.4	37	c.206	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	G	3.032	-0.199504	0.06219	0.0	2.37E-4	ENSG00000162591	ENST00000356575	D	0.84730	-1.89	4.44	-8.88	0.00789	EMI domain (1);	0.603848	0.13551	N	0.379512	T	0.67373	0.2886	N	0.12569	0.235	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.40079	-0.9582	10	0.31617	T	0.26	4.4674	15.3134	0.74053	0.8531:0.0:0.1469:0.0	.	69	O75095	MEGF6_HUMAN	M	69	ENSP00000348982:T69M	ENSP00000348982:T69M	T	-	2	0	MEGF6	3508950	0.070000	0.21116	0.000000	0.03702	0.062000	0.15995	1.588000	0.36633	-2.156000	0.00790	-1.907000	0.00523	ACG	MEGF6	-	pfscan_EMI_domain	ENSG00000162591		0.682	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	-	0.00	84	0	G	NM_001409		3519090	-1	tier1	-	no_errors	ENST00000356575	ensembl	human	known	74_37	missense	23.30	79	24	SNP	0.051	A
MEOX2	4223	genome.wustl.edu	37	7	15652021	15652021	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:15652021C>T	ENST00000262041.5	-	3	1315	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	302					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.A302A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ATCATAAGTGCGCATGCTCTG	0.478																																					Esophageal Squamous(140;197 1769 16409 18257 29929)												2	Substitution - coding silent(2)	large_intestine(1)|lung(1)											120.0	103.0	109.0					7																	15652021		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.906G>A	7.37:g.15652021C>T			B2R8I7|O75263|Q9UPL6	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.A302	ENST00000262041.5	37	c.906	CCDS34605.1	7																																																																																			MEOX2	-	NULL	ENSG00000106511		0.478	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	HGNC	protein_coding	OTTHUMT00000326058.2	-	0.00	63	0	C	NM_005924		15652021	-1	tier1	-	no_errors	ENST00000262041	ensembl	human	known	74_37	silent	7.55	96	8	SNP	0.311	T
MET	4233	genome.wustl.edu	37	7	116340117	116340117	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:116340117G>A	ENST00000318493.6	+	2	1166	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	MET_ENST00000397752.3_Missense_Mutation_p.A327T|MET_ENST00000436117.2_Missense_Mutation_p.A327T			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAAGCCTGGGGCCCAGCTTGC	0.463			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													51.0	50.0	51.0					7																	116340117		1897	4107	6004	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.979G>A	7.37:g.116340117G>A	ENSP00000317272:p.Ala327Thr		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.A327T	ENST00000318493.6	37	c.979	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546185	0.27652	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11712	2.75;2.75;2.75	6.04	4.23	0.50019	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.414677	0.28493	N	0.015149	T	0.13884	0.0336	M	0.61703	1.905	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.23854	0.004;0.003;0.013;0.003;0.003;0.006;0.003;0.003;0.012;0.002;0.006;0.092;0.092	B;B;B;B;B;B;B;B;B;B;B;B;B	0.24974	0.011;0.016;0.052;0.026;0.026;0.016;0.026;0.016;0.022;0.009;0.016;0.057;0.057	T	0.02179	-1.1200	10	0.41790	T	0.15	.	11.8575	0.52446	0.0635:0.0:0.8134:0.1231	.	327;327;327;327;327;327;327;327;327;327;327;327;327	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	T	327	ENSP00000380860:A327T;ENSP00000317272:A327T;ENSP00000410980:A327T	ENSP00000317272:A327T	A	+	1	0	MET	116127353	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	2.472000	0.45136	0.875000	0.35847	0.563000	0.77884	GCC	MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000105976		0.463	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	-	0.00	41	0	G			116340117	+1	tier1	-	no_errors	ENST00000318493	ensembl	human	known	74_37	missense	37.10	38	23	SNP	1.000	A
METTL3	56339	genome.wustl.edu	37	14	21969886	21969886	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:21969886G>A	ENST00000298717.4	-	4	1034	c.883C>T	c.(883-885)Cgc>Tgc	p.R295C	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	295					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TGCAGCTTGCGACAGGGTCGA	0.502																																																	0													122.0	98.0	106.0					14																	21969886		2203	4300	6503	SO:0001583	missense	0			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.883C>T	14.37:g.21969886G>A	ENSP00000298717:p.Arg295Cys		O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.R295C	ENST00000298717.4	37	c.883	CCDS32044.1	14	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651548	0.47362	.	.	ENSG00000165819	ENST00000298717	.	.	.	5.03	4.14	0.48551	.	0.067077	0.64402	D	0.000007	T	0.38665	0.1049	N	0.22421	0.69	0.80722	D	1	B;D	0.56968	0.001;0.978	B;P	0.49361	0.001;0.608	T	0.26292	-1.0107	9	0.56958	D	0.05	-9.0794	7.7022	0.28630	0.0842:0.0:0.7541:0.1617	.	295;295	B4E2F6;Q86U44	.;MTA70_HUMAN	C	295	.	ENSP00000298717:R295C	R	-	1	0	METTL3	21039726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.257000	0.58816	1.353000	0.45828	0.655000	0.94253	CGC	METTL3	-	NULL	ENSG00000165819		0.502	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL3	HGNC	protein_coding	OTTHUMT00000401227.1	-	0.00	64	0	G	NM_019852		21969886	-1	tier1	-	no_errors	ENST00000298717	ensembl	human	known	74_37	missense	19.69	102	25	SNP	1.000	A
MICAL3	57553	genome.wustl.edu	37	22	18376579	18376579	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:18376579C>T	ENST00000441493.2	-	11	1893	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H	MICAL3_ENST00000383094.3_Missense_Mutation_p.R514H|MICAL3_ENST00000444520.1_Missense_Mutation_p.R514H|MICAL3_ENST00000585038.1_Missense_Mutation_p.R514H|MICAL3_ENST00000414725.2_Missense_Mutation_p.R514H|MICAL3_ENST00000429452.1_Missense_Mutation_p.R514H|MICAL3_ENST00000400561.2_Missense_Mutation_p.R514H|MICAL3_ENST00000207726.7_Missense_Mutation_p.R514H	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	514					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTCACCATTGCGAGTCAATTT	0.502																																																	0													22.0	24.0	23.0					22																	18376579		1567	3575	5142	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1541G>A	22.37:g.18376579C>T	ENSP00000416015:p.Arg514His		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.R514H	ENST00000441493.2	37	c.1541	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924552	0.73213	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.59772	0.24;2.73;2.73;2.73;2.73;2.73;2.73	5.32	5.32	0.75619	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.78723	0.4328	M	0.84585	2.705	0.50813	D	0.999893	D;D;P;P;D	0.89917	0.999;0.993;0.874;0.727;1.0	D;D;B;B;P	0.76071	0.987;0.921;0.363;0.14;0.902	T	0.80910	-0.1171	10	0.51188	T	0.08	.	17.2126	0.86935	0.0:1.0:0.0:0.0	.	514;514;514;514;514	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	H	514	ENSP00000416015:R514H;ENSP00000414846:R514H;ENSP00000383406:R514H;ENSP00000410315:R514H;ENSP00000391827:R514H;ENSP00000372574:R514H;ENSP00000207726:R514H	ENSP00000207726:R514H	R	-	2	0	XXbac-B461K10.4;MICAL3	16756579	1.000000	0.71417	0.998000	0.56505	0.731000	0.41821	6.469000	0.73555	2.485000	0.83878	0.655000	0.94253	CGC	MICAL3	-	superfamily_CH-domain	ENSG00000243156		0.502	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	-	0.00	18	0	C			18376579	-1	tier1	-	no_errors	ENST00000441493	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.992	T
MIB1	57534	genome.wustl.edu	37	18	19408831	19408832	+	Intron	INS	-	-	T	rs554184794		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:19408831_19408832insT	ENST00000261537.6	+	12	2093				MIR133A1_ENST00000581613.1_RNA|MIR133A1_ENST00000577659.1_RNA|MIR133A1_ENST00000384961.1_RNA|MIB1_ENST00000578646.1_Intron|MIR133A1_ENST00000581072.1_RNA	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1						blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AGTAGATAACCTTTTTTTTTTG	0.332																																																	0																																										SO:0001627	intron_variant	0			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1829+9224->T	18.37:g.19408841_19408841dupT			B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	RNA	INS	-	NULL	ENST00000261537.6	37	NULL	CCDS11871.1	18																																																																																			MIR133A1	-	-	ENSG00000265142		0.332	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR133A1	HGNC	protein_coding	OTTHUMT00000254675.1		0.00	17	0	-	NM_020774		19408832	-1	tier1		no_errors	ENST00000581072	ensembl	human	known	74_37	rna	23.53	13	4	INS	0.000:0.000	T
MIB1	57534	genome.wustl.edu	37	18	19408832	19408832	+	Intron	DEL	T	T	-	rs554184794		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:19408832delT	ENST00000261537.6	+	12	2093				MIR133A1_ENST00000581613.1_RNA|MIR133A1_ENST00000577659.1_RNA|MIR133A1_ENST00000384961.1_RNA|MIB1_ENST00000578646.1_Intron|MIR133A1_ENST00000581072.1_RNA	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1						blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GTAGATAACCTTTTTTTTTTG	0.333																																																	0																																										SO:0001627	intron_variant	0			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1829+9225T>-	18.37:g.19408832delT			B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	RNA	DEL	-	NULL	ENST00000261537.6	37	NULL	CCDS11871.1	18																																																																																			MIR133A1	-	-	ENSG00000265142		0.333	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR133A1	HGNC	protein_coding	OTTHUMT00000254675.1		0.00	17	0	T	NM_020774		19408832	-1	tier1		no_errors	ENST00000581072	ensembl	human	known	74_37	rna	41.18	10	7	DEL	0.000	-
MIR3118-2	100422949	genome.wustl.edu	37	1	143163772	143163772	+	lincRNA	SNP	G	G	A	rs78472851	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:143163772G>A	ENST00000424474.2	+	0	379				MIR3118-2_ENST00000582397.1_RNA|RP11-782C8.1_ENST00000438000.1_lincRNA|RP11-782C8.2_ENST00000412204.2_lincRNA																							ttttcataatgcaatcacaca	0.433																																																	0																																												0																															1.37:g.143163772G>A				RNA	SNP	-	NULL	ENST00000424474.2	37	NULL		1																																																																																			MIR3118-2	-	-	ENSG00000265661		0.433	RP11-782C8.4-001	KNOWN	not_best_in_genome_evidence|basic|exp_conf	lincRNA	MIR3118-2	HGNC	lincRNA	OTTHUMT00000037573.2		0.00	82	0	G			143163772	+1			no_errors	ENST00000582397	ensembl	human	known	74_37	rna	25.90	91	36	SNP	0.121	A
MIR3147	100422939	genome.wustl.edu	37	7	57472766	57472766	+	RNA	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:57472766G>A	ENST00000577811.1	+	0	36					NR_036102.1				microRNA 3147																		GTGACGCCGCGAAGTGCACCT	0.642																																																	0																																												0					7	2011-09-12				ENSG00000266168		"""ncRNAs / Micro RNAs"""	38300	non-coding RNA	RNA, micro							Standard	NR_036102		Approved	hsa-mir-3147	uc022aeq.1				7.37:g.57472766G>A				RNA	SNP	-	NULL	ENST00000577811.1	37	NULL		7																																																																																			MIR3147	-	-	ENSG00000266168		0.642	MIR3147-202	KNOWN	basic	miRNA	MIR3147	HGNC	miRNA		-	0.00	40	0	G	NR_036102		57472766	+1	tier1	-	no_errors	ENST00000577811	ensembl	human	known	74_37	rna	27.03	54	20	SNP	0.007	A
ID1	3397	genome.wustl.edu	37	20	30194999	30194999	+	IGR	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:30194999G>T	ENST00000376112.3	+	0	994				MIR3193_ENST00000578262.1_RNA	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein						angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TCCTGCGTAGGATCTGAGGAG	0.542																																					NSCLC(123;1618 1779 21803 28680 33854)												0																																										SO:0001628	intergenic_variant	0				CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"""Basic helix-loop-helix proteins"""	5360	protein-coding gene	gene with protein product	"""DNA-binding protein inhibitor ID-1"""	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181		20.37:g.30194999G>T			A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	RNA	SNP	-	NULL	ENST00000376112.3	37	NULL	CCDS13185.1	20																																																																																			MIR3193	-	-	ENSG00000264395		0.542	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3193	HGNC	protein_coding	OTTHUMT00000078550.1		0.00	38	0	G	NM_002165		30194999	+1			no_errors	ENST00000578262	ensembl	human	known	74_37	rna	5.71	66	4	SNP	0.994	T
NAA25	80018	genome.wustl.edu	37	12	112475449	112475451	+	Intron	DEL	ACA	ACA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	ACA	ACA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:112475449_112475451delACA	ENST00000261745.4	-	22	2898				MIR3657_ENST00000584818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit							cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ataatgggacacaacaacattaa	0.315																																																	0																																										SO:0001627	intron_variant	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2649+1581TGT>-	12.37:g.112475455_112475457delACA			A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	RNA	DEL	-	NULL	ENST00000261745.4	37	NULL	CCDS9159.1	12																																																																																			MIR3657	-	-	ENSG00000266370		0.315	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3657	HGNC	protein_coding	OTTHUMT00000405205.1		0.00	27	0	ACA	NM_024953		112475451	-1	tier1		no_errors	ENST00000584818	ensembl	human	known	74_37	rna	31.71	28	13	DEL	0.057:0.065:0.071	-
MIR3916	100500849	genome.wustl.edu	37	1	247365176	247365176	+	RNA	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:247365176delG	ENST00000606454.1	-	0	353				RNA5SP82_ENST00000516707.1_RNA|MIR3916_ENST00000583893.1_RNA	NR_037480.1				microRNA 3916																		TAAGAAAGGAGGGGGGAAGGG	0.433																																																	0																																												0					1	2011-09-12						"""ncRNAs / Micro RNAs"""	38912	non-coding RNA	RNA, micro							Standard	NR_037480		Approved	hsa-mir-3916	uc021pma.1				1.37:g.247365176delG				RNA	DEL	-	NULL	ENST00000606454.1	37	NULL		1																																																																																			MIR3916	-	-	ENSG00000227671		0.433	MIR3916-003	KNOWN	basic	processed_transcript	MIR3916	HGNC	pseudogene	OTTHUMT00000470183.1		0.00	13	0	G	NR_037480		247365176	-1	tier1		no_errors	ENST00000606212	ensembl	human	known	74_37	rna	46.67	8	7	DEL	0.000	-
AC017002.1	0	genome.wustl.edu	37	2	112252464	112252464	+	lincRNA	SNP	G	G	A	rs1128295		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:112252464G>A	ENST00000455309.1	+	0	390				AC017002.2_ENST00000432268.1_lincRNA																							ATACTCACCAGGGAGAGGCTG	0.537																																																	0																																												0																															2.37:g.112252464G>A				RNA	SNP	-	NULL	ENST00000455309.1	37	NULL		2																																																																																			MIR4435-1HG	-	-	ENSG00000172965		0.537	AC017002.1-001	KNOWN	basic|exp_conf	lincRNA	MIR4435-1HG	HGNC	lincRNA	OTTHUMT00000332149.1		0.00	49	0	G			112252464	-1			no_errors	ENST00000308604	ensembl	human	known	74_37	rna	5.36	106	6	SNP	1.000	A
MXD4	10608	genome.wustl.edu	37	4	2251851	2251854	+	3'UTR	DEL	CCTT	CCTT	-	rs374688743	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CCTT	CCTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:2251851_2251854delCCTT	ENST00000337190.2	-	0	1360_1363				MIR4800_ENST00000537353.2_RNA	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						gacagCCTTGCCTTCCTTCCTTCC	0.608																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.*420AAGG>-	4.37:g.2251859_2251862delCCTT			A2A335|Q5TZX4	RNA	DEL	-	NULL	ENST00000337190.2	37	NULL	CCDS3361.1	4																																																																																			MIR4800	-	-	ENSG00000265080		0.608	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR4800	HGNC	protein_coding	OTTHUMT00000206519.1		0.00	50	0	CCTT	NM_006454		2251854	-1	tier1		no_errors	ENST00000537353	ensembl	human	known	74_37	rna	37.21	54	32	DEL	0.898:0.972:0.995:0.998	-
C3orf52	79669	genome.wustl.edu	37	3	111831724	111831725	+	Intron	DEL	AA	AA	-	rs76778672		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:111831724_111831725delAA	ENST00000264848.5	+	5	526				C3orf52_ENST00000430855.1_Intron|MIR567_ENST00000385205.1_RNA|C3orf52_ENST00000467942.2_Intron|C3orf52_ENST00000431717.2_Intron	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						ATGCAAAACTAAAAAAAAAAAA	0.327																																																	0																																										SO:0001627	intron_variant	0			AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"""TPA induced trans-membrane protein"""	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.468-86AA>-	3.37:g.111831734_111831735delAA			B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	RNA	DEL	-	NULL	ENST00000264848.5	37	NULL	CCDS46887.1	3																																																																																			MIR567	-	-	ENSG00000207940		0.327	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR567	HGNC	protein_coding	OTTHUMT00000353961.1		0.00	32	0	AA	NM_024616		111831725	+1	tier1		no_errors	ENST00000385205	ensembl	human	known	74_37	rna	15.38	22	4	DEL	0.000:0.000	-
NEIL1	79661	genome.wustl.edu	37	15	75645967	75645967	+	Intron	SNP	T	T	C	rs5745925	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:75645967T>C	ENST00000564784.1	+	7	1347				RP11-817O13.6_ENST00000563660.1_lincRNA|MIR631_ENST00000384904.1_RNA|NEIL1_ENST00000355059.4_Intron|NEIL1_ENST00000569035.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)						base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GTGTGGCCCCTGACTCAGTCC	0.582								Base excision repair (BER), DNA glycosylases																																									0													86.0	86.0	86.0					15																	75645967		1562	3562	5124	SO:0001627	intron_variant	0			AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.719-113T>C	15.37:g.75645967T>C			D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	RNA	SNP	-	NULL	ENST00000564784.1	37	NULL	CCDS10278.1	15																																																																																			MIR631	-	-	ENSG00000207636		0.582	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR631	HGNC	protein_coding	OTTHUMT00000419885.1		0.00	9	0	T	NM_024608		75645967	-1			no_errors	ENST00000384904	ensembl	human	known	74_37	rna	36.36	7	4	SNP	0.002	C
ITCH	83737	genome.wustl.edu	37	20	33054129	33054130	+	Intron	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:33054129_33054130insT	ENST00000262650.6	+	16	1683				ITCH_ENST00000535650.1_Intron|ITCH_ENST00000483727.1_Intron|ITCH_ENST00000374864.4_Intron|MIR644A_ENST00000385262.1_RNA			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase						apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ttttttgctgatttttttttag	0.317																																																	0																																										SO:0001627	intron_variant	0			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1548-3723->T	20.37:g.33054138_33054138dupT			A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	RNA	INS	-	NULL	ENST00000262650.6	37	NULL	CCDS58768.1	20																																																																																			MIR644A	-	-	ENSG00000207997		0.317	ITCH-002	KNOWN	basic|CCDS	protein_coding	MIR644A	HGNC	protein_coding	OTTHUMT00000078783.2		0.00	57	0	-			33054130	+1	tier1		no_errors	ENST00000385262	ensembl	human	known	74_37	rna	20.51	62	16	INS	0.024:0.030	T
KLHL3	26249	genome.wustl.edu	37	5	136983320	136983320	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:136983320C>T	ENST00000309755.4	-	9	1347				KLHL3_ENST00000506873.1_Intron|KLHL3_ENST00000508657.1_Intron|KLHL3_ENST00000506491.1_Intron|MIR874_ENST00000401190.1_RNA|KLHL3_ENST00000541417.1_Intron	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3						distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TACCCTGGTGCGTGGGGCCGC	0.597																																																	0													20.0	24.0	23.0					5																	136983320		1487	3408	4895	SO:0001627	intron_variant	0			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.904-7654G>A	5.37:g.136983320C>T			B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	RNA	SNP	-	NULL	ENST00000309755.4	37	NULL	CCDS4192.1	5																																																																																			MIR874	-	-	ENSG00000216009		0.597	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR874	HGNC	protein_coding	OTTHUMT00000251220.2	-	0.00	27	0	C			136983320	-1	tier1	-	no_errors	ENST00000401190	ensembl	human	known	74_37	rna	51.61	30	32	SNP	1.000	T
MIS18BP1	55320	genome.wustl.edu	37	14	45693722	45693722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:45693722delT	ENST00000310806.4	-	11	2526	c.2068delA	c.(2068-2070)agtfs	p.S690fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	690					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTGATGGGACTTTTTTTTTGA	0.373																																																	0										10,4254		2,6,2124	97.0	100.0	99.0			-1.0	0.0	14		100	20,8234		2,16,4109	no	frameshift	MIS18BP1	NM_018353.4		4,22,6233	A1A1,A1R,RR		0.2423,0.2345,0.2397			45693722	30,12488	2203	4300	6503	SO:0001589	frameshift_variant	0			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2068delA	14.37:g.45693722delT	ENSP00000309790:p.Ser690fs		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S690fs	ENST00000310806.4	37	c.2068	CCDS9684.1	14																																																																																			MIS18BP1	-	NULL	ENSG00000129534		0.373	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2		0.00	43	0	T			45693722	-1	tier1		no_errors	ENST00000310806	ensembl	human	known	74_37	frame_shift_del	40.00	48	32	DEL	0.797	-
MIS18BP1	55320	genome.wustl.edu	37	14	45716019	45716019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:45716019delT	ENST00000310806.4	-	2	929	c.471delA	c.(469-471)aaafs	p.K157fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	157					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K157fs*24(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TATGCTGCAATTTTTTTTTTT	0.358																																																	1	Deletion - Frameshift(1)	ovary(1)								6,4258		1,4,2127	185.0	165.0	172.0			0.9	0.2	14		175	19,8235		0,19,4108	no	frameshift	MIS18BP1	NM_018353.4		1,23,6235	A1A1,A1R,RR		0.2302,0.1407,0.1997			45716019	25,12493	2203	4300	6503	SO:0001589	frameshift_variant	0			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.471delA	14.37:g.45716019delT	ENSP00000309790:p.Lys157fs		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K157fs	ENST00000310806.4	37	c.471	CCDS9684.1	14																																																																																			MIS18BP1	-	NULL	ENSG00000129534		0.358	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2		0.00	116	0	T			45716019	-1			no_errors	ENST00000310806	ensembl	human	known	74_37	frame_shift_del	12.00	198	27	DEL	0.001	0
MKL2	57496	genome.wustl.edu	37	16	14351991	14351991	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:14351991C>G	ENST00000341243.5	+	14	2704	c.2704C>G	c.(2704-2706)Ctc>Gtc	p.L902V	MKL2_ENST00000571589.1_Missense_Mutation_p.L913V|MKL2_ENST00000574045.1_Missense_Mutation_p.L863V|MKL2_ENST00000318282.5_Missense_Mutation_p.L863V			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	902					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATGGATGACCTCTTTGATAT	0.383																																																	0													109.0	93.0	98.0					16																	14351991		2197	4300	6497	SO:0001583	missense	0			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2704C>G	16.37:g.14351991C>G	ENSP00000345841:p.Leu902Val		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.L902V	ENST00000341243.5	37	c.2704		16	.	.	.	.	.	.	.	.	.	.	C	19.75	3.884835	0.72410	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	M	0.80616	2.505	0.46298	D	0.998975	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.99	T	0.82731	-0.0312	9	0.44086	T	0.13	-21.3438	18.3838	0.90459	0.0:1.0:0.0:0.0	.	913;863	B4DGT8;Q9ULH7-4	.;.	V	863;902	.	ENSP00000339086:L863V	L	+	1	0	MKL2	14259492	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.488000	0.53229	2.596000	0.87737	0.563000	0.77884	CTC	MKL2	-	NULL	ENSG00000186260		0.383	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		-	0.00	37	0	C	NM_014048		14351991	+1	tier1	-	no_errors	ENST00000341243	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	G
MMP9	4318	genome.wustl.edu	37	20	44639804	44639804	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:44639804C>T	ENST00000372330.3	+	5	691	c.672C>T	c.(670-672)aaC>aaT	p.N224N	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	224					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GGTTTGGAAACGCAGATGGCG	0.642																																																	0													101.0	115.0	110.0					20																	44639804		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.672C>T	20.37:g.44639804C>T			B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.N224	ENST00000372330.3	37	c.672	CCDS13390.1	20																																																																																			MMP9	-	pfam_Pept_M10_metallopeptidase,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd	ENSG00000100985		0.642	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1	-	0.00	38	0	C			44639804	+1	tier1	-	no_errors	ENST00000372330	ensembl	human	known	74_37	silent	37.78	56	34	SNP	1.000	T
MORF4L1	10933	genome.wustl.edu	37	15	79189830	79189830	+	3'UTR	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:79189830G>T	ENST00000331268.5	+	0	1714				MORF4L1_ENST00000379535.4_3'UTR|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000426013.2_3'UTR|RNU6-415P_ENST00000516252.1_RNA	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1						cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TTGTGCTTTTGTTTTTTTTTA	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.*421G>T	15.37:g.79189830G>T			B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	RNA	SNP	-	NULL	ENST00000331268.5	37	NULL	CCDS10307.1	15																																																																																			MORF4L1	-	-	ENSG00000185787		0.343	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	-	0.00	64	0	G	NM_006791		79189830	+1	tier1	-	no_errors	ENST00000561171	ensembl	human	known	74_37	rna	21.74	72	20	SNP	0.000	T
MOV10	4343	genome.wustl.edu	37	1	113239426	113239426	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:113239426G>A	ENST00000413052.2	+	14	2546	c.2156G>A	c.(2155-2157)gGc>gAc	p.G719D	MOV10_ENST00000369644.1_Missense_Mutation_p.G663D|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.G719D|MOV10_ENST00000357443.2_Missense_Mutation_p.G719D	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	719					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GGCCCTGATGGCTATGACCCC	0.562																																																	0													74.0	52.0	59.0					1																	113239426		2203	4299	6502	SO:0001583	missense	0			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2156G>A	1.37:g.113239426G>A	ENSP00000399797:p.Gly719Asp		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.G719D	ENST00000413052.2	37	c.2156	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292767	0.60086	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92752	-3.1;-3.1;-3.09;-3.1	5.71	4.8	0.61643	.	0.376526	0.32655	N	0.005817	D	0.91026	0.7177	M	0.67625	2.065	0.80722	D	1	P	0.38167	0.621	P	0.48873	0.593	D	0.91653	0.5336	10	0.62326	D	0.03	-15.6986	11.4427	0.50107	0.1461:0.0:0.8539:0.0	.	719	Q9HCE1	MOV10_HUMAN	D	719;719;663;719;657	ENSP00000399797:G719D;ENSP00000358659:G719D;ENSP00000358658:G663D;ENSP00000350028:G719D	ENSP00000350028:G719D	G	+	2	0	MOV10	113040949	1.000000	0.71417	0.993000	0.49108	0.706000	0.40770	3.978000	0.56881	1.426000	0.47256	0.561000	0.74099	GGC	MOV10	-	superfamily_P-loop_NTPase	ENSG00000155363		0.562	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	-	0.00	35	0	G	NM_020963		113239426	+1	tier1	-	no_errors	ENST00000357443	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.992	A
MPP2	4355	genome.wustl.edu	37	17	41958085	41958085	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:41958085G>A	ENST00000461854.1	-	11	1281	c.1196C>T	c.(1195-1197)cCa>cTa	p.P399L	MPP2_ENST00000520305.1_Missense_Mutation_p.P236L|MPP2_ENST00000523501.1_Missense_Mutation_p.P364L|MPP2_ENST00000377184.3_Missense_Mutation_p.P392L|MPP2_ENST00000536246.1_Missense_Mutation_p.P364L|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.P420L|MPP2_ENST00000269095.4_Missense_Mutation_p.P375L			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	399	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		ATAGCGATCTGGATCCCACAT	0.672											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													102.0	92.0	96.0					17																	41958085		2203	4300	6503	SO:0001583	missense	0				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1196C>T	17.37:g.41958085G>A	ENSP00000428286:p.Pro399Leu	905	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.P399L	ENST00000461854.1	37	c.1196		17	.	.	.	.	.	.	.	.	.	.	g	21.7	4.194639	0.78902	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.02	3.93	0.45458	.	.	.	.	.	T	0.49745	0.1575	M	0.91920	3.255	0.58432	D	0.999999	D;D	0.54397	0.959;0.966	P;P	0.62184	0.864;0.899	T	0.59600	-0.7424	9	0.87932	D	0	.	11.9462	0.52930	0.0:0.0:0.788:0.212	.	420;392	E7EV80;Q14168-3	.;.	L	392;375;399;236;364;364;420	ENSP00000366389:P392L;ENSP00000269095:P375L;ENSP00000428286:P399L;ENSP00000428136:P236L;ENSP00000430540:P364L;ENSP00000438012:P364L;ENSP00000428182:P420L	ENSP00000269095:P375L	P	-	2	0	MPP2	39313611	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.500000	0.53318	2.511000	0.84671	0.485000	0.47835	CCA	MPP2	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000108852		0.672	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	MPP2	HGNC	protein_coding	OTTHUMT00000258388.2	-	0.00	28	0	G	NM_005374		41958085	-1	tier1	-	no_errors	ENST00000461854	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.984	A
MPZL1	9019	genome.wustl.edu	37	1	167734970	167734970	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:167734970C>G	ENST00000359523.2	+	2	444	c.242C>G	c.(241-243)gCc>gGc	p.A81G	MPZL1_ENST00000392121.3_Missense_Mutation_p.A81G|MPZL1_ENST00000474859.1_Missense_Mutation_p.A81G	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	81	Ig-like V-type.				cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					CCAGAGGGGGCCGACACTACT	0.502																																																	0													46.0	45.0	45.0					1																	167734970		2203	4300	6503	SO:0001583	missense	0			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.242C>G	1.37:g.167734970C>G	ENSP00000352513:p.Ala81Gly		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0	p.A81G	ENST00000359523.2	37	c.242	CCDS1264.1	1	.	.	.	.	.	.	.	.	.	.	C	3.119	-0.181032	0.06380	.	.	ENSG00000197965	ENST00000359523;ENST00000392121;ENST00000474859;ENST00000367853	T;D;T;T	0.94330	-0.15;-3.4;-0.15;-0.15	4.79	4.79	0.61399	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.726220	0.13340	N	0.395259	T	0.78123	0.4234	N	0.11427	0.14	0.31405	N	0.67625	B;B;B	0.23735	0.073;0.021;0.09	B;B;B	0.27715	0.049;0.049;0.082	T	0.69514	-0.5125	9	0.02654	T	1	.	18.7275	0.91720	0.0:1.0:0.0:0.0	.	81;81;81	B2REC0;O95297-3;O95297	.;.;MPZL1_HUMAN	G	81;81;81;55	ENSP00000352513:A81G;ENSP00000375968:A81G;ENSP00000420455:A81G;ENSP00000356827:A55G	ENSP00000352513:A81G	A	+	2	0	MPZL1	166001594	0.004000	0.15560	0.019000	0.16419	0.215000	0.24574	1.933000	0.40153	2.615000	0.88500	0.655000	0.94253	GCC	MPZL1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0	ENSG00000197965		0.502	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZL1	HGNC	protein_coding	OTTHUMT00000083655.2	-	0.00	32	0	C	NM_024569		167734970	+1	tier1	-	no_errors	ENST00000359523	ensembl	human	known	74_37	missense	18.42	31	7	SNP	0.105	G
MROH1	727957	genome.wustl.edu	37	8	145267982	145267982	+	Intron	SNP	G	G	A	rs373393781		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:145267982G>A	ENST00000528919.1	+	12	1262				MROH1_ENST00000527071.1_Intron|MROH1_ENST00000398656.4_Intron|MROH1_ENST00000423230.2_Silent_p.P409P|MROH1_ENST00000534366.1_Intron|MROH1_ENST00000326134.5_Intron	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1																		GTGCTGCTCCGCAGCCTGCTG	0.557																																																	0								A	,,	0,4284		0,0,2142	91.0	103.0	99.0		1227,1227,	-1.6	0.0	8		99	2,8480		0,2,4239	no	coding-synonymous,coding-synonymous,intron	HEATR7A	NM_001099280.1,NM_001099281.1,NM_032450.2	,,	0,2,6381	AA,AG,GG		0.0236,0.0,0.0157	,,	409/423,409/423,	145267982	2,12764	2142	4241	6383	SO:0001627	intron_variant	0				CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.1142-7521G>A	8.37:g.145267982G>A			C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Silent	SNP	superfamily_ARM-type_fold	p.P409	ENST00000528919.1	37	c.1227	CCDS47938.1	8																																																																																			MROH1	-	NULL	ENSG00000179832		0.557	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MROH1	HGNC	protein_coding	OTTHUMT00000386183.1	-	0.00	35	0	G	NM_032450		145267982	+1	tier1	-	no_errors	ENST00000423230	ensembl	human	known	74_37	silent	9.80	92	10	SNP	0.000	A
MROH2A	339766	genome.wustl.edu	37	2	234704629	234704629	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:234704629C>T	ENST00000389758.3	+	10	1242	c.1076C>T	c.(1075-1077)cCg>cTg	p.P359L				A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	389			G -> E (in dbSNP:rs2361503).														AACAAGGCCCCGGCCCAGCAT	0.642																																																	0																																										SO:0001583	missense	0				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.1076C>T	2.37:g.234704629C>T	ENSP00000374408:p.Pro359Leu			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P359L	ENST00000389758.3	37	c.1076		2	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698527	0.68386	.	.	ENSG00000185038	ENST00000389758	T	0.09445	2.98	5.44	5.44	0.79542	.	0.000000	0.35555	N	0.003135	T	0.26521	0.0648	M	0.65975	2.015	0.44295	D	0.997163	.	.	.	.	.	.	T	0.00189	-1.1939	8	0.62326	D	0.03	.	14.7471	0.69496	0.0:1.0:0.0:0.0	.	.	.	.	L	359	ENSP00000374408:P359L	ENSP00000374408:P359L	P	+	2	0	HEATR7B1	234369368	0.725000	0.28048	0.981000	0.43875	0.578000	0.36192	1.569000	0.36428	2.570000	0.86706	0.585000	0.79938	CCG	MROH2A	-	superfamily_ARM-type_fold	ENSG00000185038		0.642	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	MROH2A	HGNC	protein_coding	OTTHUMT00000130646.6	-	0.00	44	0	C	XM_291007		234704629	+1	tier1	-	no_errors	ENST00000389758	ensembl	human	novel	74_37	missense	52.86	33	37	SNP	0.986	T
MRPL10	124995	genome.wustl.edu	37	17	45906019	45906019	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:45906019G>T	ENST00000351111.2	-	2	75	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	LRRC46_ENST00000269025.4_5'Flank|MRPL10_ENST00000414011.1_Missense_Mutation_p.Q34K|MRPL10_ENST00000290208.7_Missense_Mutation_p.Q34K	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	24					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						CGGACAGTCTGGAGGGTAGGC	0.552																																																	0													44.0	38.0	40.0					17																	45906019		2203	4300	6503	SO:0001583	missense	0			AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.70C>A	17.37:g.45906019G>T	ENSP00000324100:p.Gln24Lys		A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	pfam_Ribosomal_L10/acidic_P0	p.Q24K	ENST00000351111.2	37	c.70	CCDS11516.1	17	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813536	0.70912	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.51071	0.72;2.31;2.31	5.32	5.32	0.75619	.	0.124032	0.56097	D	0.000023	T	0.49474	0.1559	M	0.70595	2.14	0.80722	D	1	B;B	0.31227	0.136;0.314	B;B	0.24848	0.056;0.041	T	0.53549	-0.8423	10	0.56958	D	0.05	-5.155	17.7669	0.88481	0.0:0.0:1.0:0.0	.	24;34	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	K	24;34;34	ENSP00000324100:Q24K;ENSP00000290208:Q34K;ENSP00000395870:Q34K	ENSP00000290208:Q34K	Q	-	1	0	MRPL10	43261018	1.000000	0.71417	0.990000	0.47175	0.881000	0.50899	8.905000	0.92613	2.502000	0.84385	0.561000	0.74099	CAG	MRPL10	-	NULL	ENSG00000159111		0.552	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL10	HGNC	protein_coding	OTTHUMT00000343764.1	-	0.00	31	0	G	NM_145255		45906019	-1	tier1	-	no_errors	ENST00000351111	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
MRPL9	65005	genome.wustl.edu	37	1	151735572	151735573	+	Frame_Shift_Ins	INS	-	-	C	rs571400775		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:151735572_151735573insC	ENST00000368830.3	-	2	287_288	c.203_204insG	c.(202-204)ggcfs	p.G68fs	OAZ3_ENST00000321531.5_5'UTR|OAZ3_ENST00000453029.2_5'Flank|OAZ3_ENST00000315067.8_5'UTR|RP11-98D18.3_ENST00000512280.1_RNA|MRPL9_ENST00000467306.1_5'UTR|OAZ3_ENST00000479764.1_5'Flank|RP11-98D18.2_ENST00000420382.1_RNA|MRPL9_ENST00000368829.3_Frame_Shift_Ins_p.G68fs	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	68					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCGGCTTCCGGCCCTCCCCGGC	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.204dupG	1.37:g.151735575_151735575dupC	ENSP00000357823:p.Gly68fs		B2RD99|Q5SZR2|Q9BSW8	Frame_Shift_Ins	INS	pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N	p.R69fs	ENST00000368830.3	37	c.204_203	CCDS1003.1	1																																																																																			MRPL9	-	NULL	ENSG00000143436		0.639	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL9	HGNC	protein_coding	OTTHUMT00000036653.2		0.00	17	0	-	NM_031420		151735573	-1	tier1		no_errors	ENST00000368830	ensembl	human	known	74_37	frame_shift_ins	12.90	27	4	INS	1.000:1.000	C
MS4A6A	64231	genome.wustl.edu	37	11	59947419	59947419	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:59947419C>G	ENST00000530839.1	-	4	659	c.167G>C	c.(166-168)gGc>gCc	p.G56A	MS4A6A_ENST00000532169.1_Missense_Mutation_p.G56A|MS4A6A_ENST00000528851.1_Missense_Mutation_p.G56A|MS4A6A_ENST00000426738.2_Intron|MS4A6A_ENST00000420732.2_Missense_Mutation_p.G56A|MS4A6A_ENST00000412309.2_Missense_Mutation_p.G84A|MS4A6A_ENST00000323961.3_Missense_Mutation_p.G56A|MS4A6A_ENST00000529054.1_Missense_Mutation_p.G84A|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529906.1_5'UTR	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	56						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TACCATCATGCCACACAAGAT	0.448																																																	0													98.0	90.0	92.0					11																	59947419		2201	4295	6496	SO:0001583	missense	0			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.167G>C	11.37:g.59947419C>G	ENSP00000436979:p.Gly56Ala		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.G56A	ENST00000530839.1	37	c.167	CCDS7981.1	11	.	.	.	.	.	.	.	.	.	.	C	0.354	-0.943075	0.02322	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000412309;ENST00000532169;ENST00000534596	T;T;T;T;T;T;T;T	0.16743	3.52;3.52;3.52;3.52;3.52;3.52;3.52;2.32	4.32	2.33	0.28932	.	0.332030	0.30227	N	0.010106	T	0.21022	0.0506	L	0.37561	1.115	0.09310	N	0.999999	D;D;D;D	0.55385	0.964;0.971;0.971;0.964	P;P;P;P	0.57548	0.728;0.823;0.823;0.593	T	0.04115	-1.0976	9	.	.	.	.	6.8925	0.24236	0.1936:0.6022:0.2042:0.0	.	84;84;56;56	F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.;.;M4A6A_HUMAN;.	A	56;56;56;56;84;84;56;84	ENSP00000315878:G56A;ENSP00000431901:G56A;ENSP00000392921:G56A;ENSP00000436979:G56A;ENSP00000435844:G84A;ENSP00000403212:G84A;ENSP00000431266:G56A;ENSP00000433436:G84A	.	G	-	2	0	MS4A6A	59703995	0.003000	0.15002	0.003000	0.11579	0.102000	0.19082	1.092000	0.30927	0.500000	0.27991	0.655000	0.94253	GGC	MS4A6A	-	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	ENSG00000110077		0.448	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6A	HGNC	protein_coding	OTTHUMT00000393848.1	-	0.00	45	0	C			59947419	-1	tier1	-	no_errors	ENST00000323961	ensembl	human	known	74_37	missense	41.51	31	22	SNP	0.002	G
MS4A6A	64231	genome.wustl.edu	37	11	59947431	59947431	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:59947431T>C	ENST00000530839.1	-	4	647	c.155A>G	c.(154-156)cAg>cGg	p.Q52R	MS4A6A_ENST00000532169.1_Missense_Mutation_p.Q52R|MS4A6A_ENST00000528851.1_Missense_Mutation_p.Q52R|MS4A6A_ENST00000426738.2_Intron|MS4A6A_ENST00000420732.2_Missense_Mutation_p.Q52R|MS4A6A_ENST00000412309.2_Missense_Mutation_p.Q80R|MS4A6A_ENST00000323961.3_Missense_Mutation_p.Q52R|MS4A6A_ENST00000529054.1_Missense_Mutation_p.Q80R|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529906.1_5'UTR	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	52						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACACAAGATCTGGATAGTCTG	0.448																																																	0													92.0	85.0	87.0					11																	59947431		2201	4295	6496	SO:0001583	missense	0			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.155A>G	11.37:g.59947431T>C	ENSP00000436979:p.Gln52Arg		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.Q52R	ENST00000530839.1	37	c.155	CCDS7981.1	11	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849763	0.51270	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000412309;ENST00000532169;ENST00000534596	T;T;T;T;T;T;T;T	0.25579	3.16;3.16;3.16;3.16;3.16;3.16;3.16;1.79	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.58589	-0.7610	9	.	.	.	.	10.0548	0.42239	0.0:0.0:0.0:1.0	.	80;80;52;52	F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.;.;M4A6A_HUMAN;.	R	52;52;52;52;80;80;52;80	ENSP00000315878:Q52R;ENSP00000431901:Q52R;ENSP00000392921:Q52R;ENSP00000436979:Q52R;ENSP00000435844:Q80R;ENSP00000403212:Q80R;ENSP00000431266:Q52R;ENSP00000433436:Q80R	.	Q	-	2	0	MS4A6A	59704007	1.000000	0.71417	0.997000	0.53966	0.389000	0.30415	3.221000	0.51215	1.929000	0.55896	0.533000	0.62120	CAG	MS4A6A	-	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	ENSG00000110077		0.448	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6A	HGNC	protein_coding	OTTHUMT00000393848.1	-	0.00	46	0	T			59947431	-1	tier1	-	no_errors	ENST00000323961	ensembl	human	known	74_37	missense	40.82	29	20	SNP	1.000	C
APEH	327	genome.wustl.edu	37	3	49721799	49721799	+	IGR	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:49721799C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.R655Q	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCACTCTCCCGCACACGTCC	0.602																																																	0													55.0	57.0	57.0					3																	49721799		2203	4300	6503	SO:0001628	intergenic_variant	0			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721799C>T			Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R655Q	ENST00000296456.5	37	c.1964	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939061	0.34189	.	.	ENSG00000173531	ENST00000449682	D	0.88509	-2.39	5.59	-1.21	0.09524	.	1.156200	0.06730	N	0.776513	T	0.76737	0.4029	N	0.14661	0.345	0.09310	N	0.999997	B	0.13594	0.008	B	0.06405	0.002	T	0.59637	-0.7417	10	0.18710	T	0.47	.	7.2896	0.26358	0.138:0.1518:0.0:0.7101	.	655	G3XAK1	.	Q	655	ENSP00000414287:R655Q	ENSP00000414287:R655Q	R	-	2	0	MST1	49696803	0.000000	0.05858	0.000000	0.03702	0.943000	0.58893	-0.034000	0.12225	-0.123000	0.11745	0.655000	0.94253	CGG	MST1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000173531		0.602	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2	-	0.00	25	0	C			49721799	-1	tier1	-	no_errors	ENST00000449682	ensembl	human	known	74_37	missense	83.33	4	20	SNP	0.000	T
MTA3	57504	genome.wustl.edu	37	2	42936305	42936306	+	Intron	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:42936305_42936306insT	ENST00000405094.1	+	14	1525				MTA3_ENST00000406911.1_3'UTR|MTA3_ENST00000405592.1_Intron|MTA3_ENST00000406652.1_Intron|MTA3_ENST00000407270.3_3'UTR			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3							intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						cctctctttccttttttttttg	0.302																																																	0																																										SO:0001627	intron_variant	0			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.1525+69->T	2.37:g.42936315_42936315dupT			Q9NSP2|Q9ULF4	RNA	INS	-	NULL	ENST00000405094.1	37	NULL		2																																																																																			MTA3	-	-	ENSG00000057935		0.302	MTA3-017	KNOWN	basic	protein_coding	MTA3	HGNC	protein_coding	OTTHUMT00000318159.1		0.00	56	0	-	NM_020744		42936306	+1	tier1		no_errors	ENST00000475383	ensembl	human	known	74_37	rna	22.47	69	20	INS	0.010:0.005	T
MTERF4	130916	genome.wustl.edu	37	2	242035595	242035595	+	Missense_Mutation	SNP	G	G	A	rs376613445		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:242035595G>A	ENST00000391980.2	-	4	1022	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.R134W	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		322	Dimerization with NSUN4.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TCCTCCTCCCGAGCCAGGAGC	0.478																																																	0								G	TRP/ARG	0,4406		0,0,2203	146.0	122.0	131.0		964	5.5	1.0	2		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	MTERFD2	NM_182501.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	322/382	242035595	1,13005	2203	4300	6503	SO:0001583	missense	0																														ENST00000391980.2:c.964C>T	2.37:g.242035595G>A	ENSP00000375840:p.Arg322Trp		A8K6K0|Q9P0E0	Missense_Mutation	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.R322W	ENST00000391980.2	37	c.964	CCDS2544.1	2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357118	0.82243	0.0	1.16E-4	ENSG00000122085	ENST00000391980;ENST00000406593;ENST00000439144	T;T;T	0.68181	2.26;-0.31;1.22	5.53	5.53	0.82687	.	0.074292	0.52532	D	0.000078	T	0.66066	0.2752	M	0.75777	2.31	0.80722	D	1	P	0.42456	0.78	B	0.31946	0.138	T	0.74272	-0.3719	10	0.87932	D	0	-0.4964	19.081	0.93182	0.0:0.0:1.0:0.0	.	322	Q7Z6M4	MTER2_HUMAN	W	322;134;175	ENSP00000375840:R322W;ENSP00000384998:R134W;ENSP00000414989:R175W	ENSP00000241527:R322W	R	-	1	2	MTERFD2	241684268	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	4.636000	0.61339	2.611000	0.88343	0.460000	0.39030	CGG	MTERFD2	-	NULL	ENSG00000122085		0.478	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTERFD2	HGNC	protein_coding	OTTHUMT00000323798.4	-	0.00	79	0	G			242035595	-1	tier1	-	no_errors	ENST00000241527	ensembl	human	known	74_37	missense	40.71	67	46	SNP	0.999	A
MTF2	22823	genome.wustl.edu	37	1	93602676	93602678	+	3'UTR	DEL	AAA	AAA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:93602676_93602678delAAA	ENST00000370298.4	+	0	2163_2165				MTF2_ENST00000370303.4_3'UTR|MTF2_ENST00000540243.1_3'UTR|MTF2_ENST00000545708.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2						chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TATCTTTCTTAAAAAAAAAAAAA	0.33																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.*94AAA>-	1.37:g.93602685_93602687delAAA			A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	RNA	DEL	-	NULL	ENST00000370298.4	37	NULL	CCDS742.1	1																																																																																			MTF2	-	-	ENSG00000143033		0.330	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF2	HGNC	protein_coding	OTTHUMT00000028075.3		0.00	34	0	AAA	NM_007358		93602678	+1	tier1		no_errors	ENST00000467953	ensembl	human	known	74_37	rna	20.00	44	11	DEL	1.000:0.997:0.993	-
MTHFD2	10797	genome.wustl.edu	37	2	74437167	74437167	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:74437167C>T	ENST00000394053.2	+	5	741	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	MTHFD2_ENST00000264090.4_Missense_Mutation_p.R119C|MTHFD2_ENST00000394050.3_Missense_Mutation_p.R57C|MTHFD2_ENST00000409601.1_Missense_Mutation_p.R180C|MTHFD2_ENST00000409804.1_Intron	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	221					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	GGCGCATGAACGTCCCGGAGG	0.468																																																	0													67.0	69.0	69.0					2																	74437167		1903	4131	6034	SO:0001583	missense	0			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.661C>T	2.37:g.74437167C>T	ENSP00000377617:p.Arg221Cys		Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.R221C	ENST00000394053.2	37	c.661	CCDS1935.2	2	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720421	0.48728	.	.	ENSG00000065911	ENST00000394053;ENST00000264090;ENST00000394050;ENST00000409601	T;T;T;T	0.31769	1.91;1.92;1.48;1.78	5.49	4.6	0.57074	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.098149	0.64402	D	0.000003	T	0.31136	0.0787	L	0.56769	1.78	0.80722	D	1	B;B	0.33964	0.434;0.211	B;B	0.31614	0.133;0.081	T	0.18587	-1.0332	10	0.72032	D	0.01	.	13.4506	0.61169	0.1579:0.8421:0.0:0.0	.	180;221	B8ZZU9;P13995	.;MTDC_HUMAN	C	221;119;57;180	ENSP00000377617:R221C;ENSP00000264090:R119C;ENSP00000377614:R57C;ENSP00000386542:R180C	ENSP00000264090:R119C	R	+	1	0	MTHFD2	74290675	1.000000	0.71417	0.375000	0.26029	0.993000	0.82548	2.800000	0.47900	1.543000	0.49345	0.644000	0.83932	CGT	MTHFD2	-	pfam_THF_DH/CycHdrlase_NAD-bd_dom	ENSG00000065911		0.468	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2	HGNC	protein_coding	OTTHUMT00000252045.2	-	0.00	55	0	C			74437167	+1	tier1	-	no_errors	ENST00000394053	ensembl	human	known	74_37	missense	29.58	50	21	SNP	0.994	T
MTHFSD	64779	genome.wustl.edu	37	16	86585831	86585831	+	Intron	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:86585831A>G	ENST00000360900.6	-	3	149				MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000322911.6_Intron|MTHFSD_ENST00000381214.5_Missense_Mutation_p.V64A|MTHFSD_ENST00000543303.2_Missense_Mutation_p.V63A|MTHFSD_ENST00000568037.1_5'UTR	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						ATCAGGATTTACTTTAATGGT	0.502																																																	0													100.0	92.0	94.0					16																	86585831		692	1591	2283	SO:0001627	intron_variant	0			AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.124-79T>C	16.37:g.86585831A>G			A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V64A	ENST00000360900.6	37	c.191	CCDS54047.1	16	.	.	.	.	.	.	.	.	.	.	A	17.80	3.478551	0.63849	.	.	ENSG00000103248	ENST00000381214	T	0.49720	0.77	5.93	5.93	0.95920	.	.	.	.	.	T	0.60222	0.2252	L	0.50919	1.6	0.80722	D	1	D;D	0.59357	0.985;0.985	D;D	0.65010	0.931;0.931	T	0.60182	-0.7313	9	0.48119	T	0.1	.	12.6865	0.56949	0.8629:0.1371:0.0:0.0	.	64;63	E9PAM1;B7ZLC0	.;.	A	64	ENSP00000370612:V64A	ENSP00000370612:V64A	V	-	2	0	MTHFSD	85143332	1.000000	0.71417	0.986000	0.45419	0.334000	0.28698	6.594000	0.74104	2.267000	0.75376	0.533000	0.62120	GTA	MTHFSD	-	pfam_FTHF_cligase	ENSG00000103248		0.502	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTHFSD	HGNC	protein_coding	OTTHUMT00000432182.1	-	0.00	20	0	A	NM_022764		86585831	-1	tier1	-	no_errors	ENST00000381214	ensembl	human	known	74_37	missense	32.61	31	15	SNP	0.996	G
MTL5	9633	genome.wustl.edu	37	11	68517736	68517736	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:68517736C>T	ENST00000255087.5	-	2	576	c.393G>A	c.(391-393)gcG>gcA	p.A131A	MTL5_ENST00000443940.2_Silent_p.A131A|MTL5_ENST00000540869.1_5'Flank|MTL5_ENST00000544963.1_Silent_p.A131A	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	131					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GGCTGCGGTGCGCGGGTAGCA	0.721																																																	0													8.0	10.0	9.0					11																	68517736		2165	4232	6397	SO:0001819	synonymous_variant	0			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.393G>A	11.37:g.68517736C>T			A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Silent	SNP	pfam_CRC,superfamily_Thionin	p.A131	ENST00000255087.5	37	c.393	CCDS8184.1	11																																																																																			MTL5	-	NULL	ENSG00000132749		0.721	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTL5	HGNC	protein_coding	OTTHUMT00000396844.1	-	0.00	28	0	C	NM_004923		68517736	-1	tier1	-	no_errors	ENST00000255087	ensembl	human	known	74_37	silent	18.75	65	15	SNP	0.015	T
MTMR7	9108	genome.wustl.edu	37	8	17161980	17161980	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:17161980C>T	ENST00000180173.5	-	12	1435	c.1401G>A	c.(1399-1401)cgG>cgA	p.R467R	MTMR7_ENST00000398099.3_Silent_p.R58R|MTMR7_ENST00000521857.1_Silent_p.R467R	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	467	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GGTAGTCGGCCCGATTCTTCC	0.408																																																	0													166.0	145.0	152.0					8																	17161980		2203	4300	6503	SO:0001819	synonymous_variant	0			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1401G>A	8.37:g.17161980C>T			A1L4K9|B4DG87|Q68DX4	Silent	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.R467	ENST00000180173.5	37	c.1401	CCDS34851.1	8																																																																																			MTMR7	-	NULL	ENSG00000003987		0.408	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR7	HGNC	protein_coding	OTTHUMT00000375311.1	-	0.00	77	0	C	NM_004686		17161980	-1	tier1	-	no_errors	ENST00000180173	ensembl	human	known	74_37	silent	69.49	18	41	SNP	0.982	T
MTUS1	57509	genome.wustl.edu	37	8	17504618	17504618	+	Intron	SNP	T	T	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:17504618T>A	ENST00000262102.6	-	14	3726				MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381861.3_Intron|MTUS1_ENST00000297488.6_Intron|MTUS1_ENST00000518713.1_5'Flank|MTUS1_ENST00000400046.1_Intron|MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000544260.1_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1						cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CCAACATTTATACAATATTAA	0.348																																																	0													66.0	63.0	64.0					8																	17504618		1815	4080	5895	SO:0001627	intron_variant	0			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3502-30A>T	8.37:g.17504618T>A			A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	RNA	SNP	-	NULL	ENST00000262102.6	37	NULL	CCDS43717.1	8																																																																																			MTUS1	-	-	ENSG00000129422		0.348	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1	-	0.00	29	0	T	XM_372031		17504618	-1	tier1	-	no_errors	ENST00000518889	ensembl	human	putative	74_37	rna	62.07	11	18	SNP	0.000	A
MTUS1	57509	genome.wustl.edu	37	8	17504627	17504627	+	Intron	DEL	A	A	-	rs565891321|rs538935142	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:17504627delA	ENST00000262102.6	-	14	3726				MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381861.3_Intron|MTUS1_ENST00000297488.6_Intron|MTUS1_ENST00000518713.1_5'Flank|MTUS1_ENST00000400046.1_Intron|MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000544260.1_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1						cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ATACAATATTAAAAAAAAAAC	0.333																																																	0													47.0	45.0	45.0					8																	17504627		1805	4071	5876	SO:0001627	intron_variant	0			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3502-39T>-	8.37:g.17504627delA			A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	RNA	DEL	-	NULL	ENST00000262102.6	37	NULL	CCDS43717.1	8																																																																																			MTUS1	-	-	ENSG00000129422		0.333	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1		0.00	28	0	A	XM_372031		17504627	-1	tier1		no_errors	ENST00000518889	ensembl	human	putative	74_37	rna	47.83	12	11	DEL	0.000	-
MUC16	94025	genome.wustl.edu	37	19	8971684	8971684	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:8971684T>C	ENST00000397910.4	-	78	43111	c.42908A>G	c.(42907-42909)cAt>cGt	p.H14303R	MUC16_ENST00000380951.5_Missense_Mutation_p.H944R|MUC16_ENST00000596956.1_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14398	SEA 15. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCTGTCACATGGATGTCCAC	0.532																																																	0													76.0	76.0	76.0					19																	8971684		1919	4127	6046	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42908A>G	19.37:g.8971684T>C	ENSP00000381008:p.His14303Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.H14303R	ENST00000397910.4	37	c.42908	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.802|9.802	1.180834|1.180834	0.21787|0.21787	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.31510|.	1.49;1.49|.	3.99|3.99	0.738|0.738	0.18319|0.18319	.|.	0.415682|.	0.17855|.	N|.	0.159727|.	T|T	0.23451|0.23451	0.0567|0.0567	N|N	0.14661|0.14661	0.345|0.345	.|.	.|.	.|.	B;P|.	0.43662|.	0.259;0.814|.	B;P|.	0.58391|.	0.039;0.838|.	T|T	0.32508|0.32508	-0.9904|-0.9904	9|4	0.62326|.	D|.	0.03|.	.|.	6.049|6.049	0.19775|0.19775	0.0:0.326:0.0:0.674|0.0:0.326:0.0:0.674	.|.	21948;14303|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	R|V	14303;944|1126	ENSP00000381008:H14303R;ENSP00000370338:H944R|.	ENSP00000370338:H944R|.	H|M	-|-	2|1	0|0	MUC16|MUC16	8832684|8832684	0.027000|0.027000	0.19231|0.19231	0.267000|0.267000	0.24556|0.24556	0.150000|0.150000	0.21749|0.21749	0.663000|0.663000	0.25053|0.25053	-0.035000|-0.035000	0.13691|0.13691	-0.353000|-0.353000	0.07706|0.07706	CAT|ATG	MUC16	-	NULL	ENSG00000181143		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	57	0	T	NM_024690		8971684	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	14.52	53	9	SNP	0.573	C
MUC17	140453	genome.wustl.edu	37	7	100677782	100677782	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:100677782G>A	ENST00000306151.4	+	3	3149	c.3085G>A	c.(3085-3087)Ggt>Agt	p.G1029S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1029	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTGCTGAAGGTACCAGCAT	0.512																																																	0													485.0	389.0	421.0					7																	100677782		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3085G>A	7.37:g.100677782G>A	ENSP00000302716:p.Gly1029Ser		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.G1029S	ENST00000306151.4	37	c.3085	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	3.471	-0.107866	0.06924	.	.	ENSG00000169876	ENST00000306151	T	0.03468	3.92	0.74	-0.568	0.11760	.	.	.	.	.	T	0.01730	0.0055	N	0.11560	0.145	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.48917	-0.8992	9	0.18276	T	0.48	.	2.305	0.04172	0.2643:0.34:0.3957:0.0	.	1029	Q685J3	MUC17_HUMAN	S	1029	ENSP00000302716:G1029S	ENSP00000302716:G1029S	G	+	1	0	MUC17	100464502	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.113000	0.03296	-0.162000	0.10964	0.134000	0.15878	GGT	MUC17	-	NULL	ENSG00000169876		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0.00	81	0	G	NM_001040105		100677782	+1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	38.03	88	54	SNP	0.000	A
MUC4	4585	genome.wustl.edu	37	3	195506197	195506197	+	Missense_Mutation	SNP	T	T	C	rs148307810	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:195506197T>C	ENST00000463781.3	-	2	12713	c.12254A>G	c.(12253-12255)gAt>gGt	p.D4085G	MUC4_ENST00000475231.1_Missense_Mutation_p.D4085G|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGCATCGGTGACAGG	0.572													.|||	37	0.00738818	0.0129	0.0	5008	,	,		11692	0.0		0.003	False		,,,				2504	0.0174																0													40.0	20.0	26.0					3																	195506197		555	1314	1869	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12254A>G	3.37:g.195506197T>C	ENSP00000417498:p.Asp4085Gly		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.D4085G	ENST00000463781.3	37	c.12254	CCDS54700.1	3	26	0.011904761904761904	3	0.006097560975609756	3	0.008287292817679558	15	0.026223776223776224	5	0.006596306068601583	N	5.032	0.191511	0.09547	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32272	1.46;1.48	.	.	.	.	.	.	.	.	T	0.04815	0.0130	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.01281	0.0	T	0.25950	-1.0117	7	.	.	.	.	3.7455	0.08547	0.0:0.3325:0.0:0.6675	.	3957	E7ESK3	.	G	4085	ENSP00000417498:D4085G;ENSP00000420243:D4085G	.	D	-	2	0	MUC4	196990976	0.000000	0.05858	0.003000	0.11579	0.025000	0.11179	-1.290000	0.02777	-0.423000	0.07394	0.055000	0.15244	GAT	MUC4	-	NULL	ENSG00000145113		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6		0.00	8	0	T	NM_018406		195506197	-1			no_errors	ENST00000463781	ensembl	human	known	74_37	missense	26.32	14	5	SNP	0.164	C
MUC5B	727897	genome.wustl.edu	37	11	1252187	1252187	+	Missense_Mutation	SNP	G	G	A	rs368620070		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:1252187G>A	ENST00000529681.1	+	13	1550	c.1492G>A	c.(1492-1494)Ggc>Agc	p.G498S	MUC5B_ENST00000447027.1_Missense_Mutation_p.G501S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	498	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAAGCGGACGGCGGCGTGTT	0.687													g|||	1	0.000199681	0.0	0.0	5008	,	,		12105	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1492G>A	11.37:g.1252187G>A	ENSP00000436812:p.Gly498Ser		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G501S	ENST00000529681.1	37	c.1501	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	g	12.42	1.933124	0.34096	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.59083	0.29;0.29	3.93	3.93	0.45458	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.80773	0.4687	M	0.92691	3.335	0.23192	N	0.998148	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.998	T	0.72567	-0.4254	9	0.87932	D	0	.	13.1051	0.59244	0.0:0.0:1.0:0.0	.	498;1157;501	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	S	498;501;499;534	ENSP00000436812:G498S;ENSP00000415793:G501S	ENSP00000343037:G499S	G	+	1	0	MUC5B	1208763	1.000000	0.71417	0.011000	0.14972	0.013000	0.08279	7.589000	0.82641	1.726000	0.51525	0.457000	0.33378	GGC	MUC5B	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000117983		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0.00	23	0	G	XM_001126093		1252187	+1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.325	A
MUC5B	727897	genome.wustl.edu	37	11	1282626	1282626	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:1282626G>A	ENST00000529681.1	+	49	17135	c.17077G>A	c.(17077-17079)Gca>Aca	p.A5693T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A5696T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5693	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGGTACTCAGCAGAGGCCCA	0.662																																																	0													34.0	41.0	38.0					11																	1282626		2138	4149	6287	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.17077G>A	11.37:g.1282626G>A	ENSP00000436812:p.Ala5693Thr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A5696T	ENST00000529681.1	37	c.17086	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	7.941	0.742761	0.15642	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.17691	2.26;2.45	4.31	-8.62	0.00881	.	.	.	.	.	T	0.15652	0.0377	M	0.66297	2.02	0.09310	N	1	P;P	0.47409	0.895;0.895	B;B	0.41236	0.351;0.351	T	0.06285	-1.0835	9	0.87932	D	0	.	8.5331	0.33346	0.1352:0.5077:0.3571:0.0	.	6030;5696	A7Y9J9;E9PBJ0	.;.	T	5693;5696;5637;592;5405	ENSP00000436812:A5693T;ENSP00000415793:A5696T	ENSP00000343037:A5637T	A	+	1	0	MUC5B	1239202	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-1.046000	0.03525	-1.995000	0.00971	0.561000	0.74099	GCA	MUC5B	-	smart_Cys_knot_C,pfscan_Cys_knot_C	ENSG00000117983		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0.00	71	0	G	XM_001126093		1282626	+1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	34.29	68	36	SNP	0.000	A
MUSK	4593	genome.wustl.edu	37	9	113457777	113457777	+	Silent	SNP	A	A	G	rs373961420		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:113457777A>G	ENST00000374448.4	+	4	587	c.453A>G	c.(451-453)tcA>tcG	p.S151S	MUSK_ENST00000374439.1_Silent_p.S33S|MUSK_ENST00000189978.5_Silent_p.S151S|MUSK_ENST00000416899.2_Silent_p.S151S|MUSK_ENST00000374440.3_Silent_p.S33S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	151	Ig-like 2.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAAACCATCAGTGTCTTGGA	0.338																																																	0								A	,,	0,3646		0,0,1823	50.0	47.0	48.0		453,453,453	-9.3	0.2	9		48	1,8119		0,1,4059	no	coding-synonymous,coding-synonymous,coding-synonymous	MUSK	NM_001166280.1,NM_001166281.1,NM_005592.3	,,	0,1,5882	GG,GA,AA		0.0123,0.0,0.0085	,,	151/784,151/774,151/870	113457777	1,11765	1823	4060	5883	SO:0001819	synonymous_variant	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.453A>G	9.37:g.113457777A>G			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S151	ENST00000374448.4	37	c.453	CCDS48005.1	9																																																																																			MUSK	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000030304		0.338	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		-	0.00	40	0	A			113457777	+1	tier1	-	no_errors	ENST00000374448	ensembl	human	known	74_37	silent	27.27	24	9	SNP	0.476	G
MYBL1	4603	genome.wustl.edu	37	8	67488453	67488453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:67488453delT	ENST00000522677.3	-	10	1669	c.1259delA	c.(1258-1260)aacfs	p.N420fs	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Frame_Shift_Del_p.N420fs	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	420	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATTACAAGTGTTTTTTTTCCC	0.403																																																	0													210.0	194.0	199.0					8																	67488453		1900	4122	6022	SO:0001589	frameshift_variant	0			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1259delA	8.37:g.67488453delT	ENSP00000429633:p.Asn420fs		E7EW29|Q495F9	Frame_Shift_Del	DEL	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.N420fs	ENST00000522677.3	37	c.1259	CCDS47867.1	8																																																																																			MYBL1	-	NULL	ENSG00000185697		0.403	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL1	HGNC	protein_coding	OTTHUMT00000379221.3		0.00	75	0	T	XM_034274		67488453	-1	tier1		no_errors	ENST00000522677	ensembl	human	known	74_37	frame_shift_del	20.72	176	46	DEL	0.992	-
MYH11	4629	genome.wustl.edu	37	16	15802686	15802687	+	Intron	INS	-	-	G	rs111588143	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:15802686_15802687insG	ENST00000300036.5	-	41	5896				MYH11_ENST00000452625.2_Frame_Shift_Ins_p.P1940fs|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000573908.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000396324.3_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.2_Frame_Shift_Ins_p.P1933fs	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle						axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AAGTTTCCTGTGGGGGGGGCCC	0.495			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0									,,,,,	37,4227		0,37,2095					,,,,,	1.7	1.0			33	57,8197		0,57,4070	no	frameshift,intron,intron,intron,intron,frameshift	MYH11,NDE1	NM_022844.2,NM_017668.2,NM_002474.2,NM_001143979.1,NM_001040114.1,NM_001040113.1	,,,,,	0,94,6165	A1A1,A1R,RR		0.6906,0.8677,0.7509	,,,,,	,,,,,		94,12424				SO:0001627	intron_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5787-4706->C	16.37:g.15802694_15802694dupG			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1941fs	ENST00000300036.5	37	c.5820_5819	CCDS10565.1	16																																																																																			MYH11	-	NULL	ENSG00000133392		0.495	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2		0.00	42	0	-	NM_001040113		15802687	-1	tier1		no_errors	ENST00000452625	ensembl	human	known	74_37	frame_shift_ins	25.00	39	13	INS	1.000:1.000	G
MYH6	4624	genome.wustl.edu	37	14	23859332	23859334	+	In_Frame_Del	DEL	CTC	CTC	-	rs557990788		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:23859332_23859334delCTC	ENST00000356287.3	-	25	3693_3695	c.3664_3666delGAG	c.(3664-3666)gagdel	p.E1222del	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_In_Frame_Del_p.E1222del			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1222					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACTCGCTCTTCTCCTTCTCCAGC	0.645																																																	0																																										SO:0001651	inframe_deletion	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3664_3666delGAG	14.37:g.23859332_23859334delCTC	ENSP00000348634:p.Glu1222del		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	In_Frame_Del	DEL	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.E1222in_frame_del	ENST00000356287.3	37	c.3666_3664	CCDS9600.1	14																																																																																			MYH6	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000197616		0.645	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3		0.00	53	0	CTC			23859334	-1			no_errors	ENST00000356287	ensembl	human	known	74_37	in_frame_del	15.96	79	15	DEL	1.000:1.000:1.000	0
MYH7B	57644	genome.wustl.edu	37	20	33565839	33565839	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:33565839G>A	ENST00000262873.7	+	3	249	c.157G>A	c.(157-159)Gcc>Acc	p.A53T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	11						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGGGAGTCTGCCCGCTACCT	0.607																																																	0													83.0	90.0	87.0					20																	33565839		2186	4280	6466	SO:0001583	missense	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.157G>A	20.37:g.33565839G>A	ENSP00000262873:p.Ala53Thr		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A53T	ENST00000262873.7	37	c.157	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687970	0.88639	.	.	ENSG00000078814	ENST00000262873	D	0.86562	-2.14	4.98	4.98	0.66077	.	0.000000	0.34386	N	0.004001	T	0.80132	0.4567	N	0.08118	0	0.47862	D	0.999535	P	0.44690	0.841	P	0.45099	0.469	T	0.82446	-0.0453	10	0.41790	T	0.15	.	18.4469	0.90688	0.0:0.0:1.0:0.0	.	11	A7E2Y1	MYH7B_HUMAN	T	53	ENSP00000262873:A53T	ENSP00000262873:A53T	A	+	1	0	MYH7B	33029500	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.511000	0.73733	2.595000	0.87683	0.655000	0.94253	GCC	MYH7B	-	NULL	ENSG00000078814		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	-	0.00	39	0	G	NM_020884		33565839	+1	tier1	-	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	27.37	69	26	SNP	1.000	A
MYH7B	57644	genome.wustl.edu	37	20	33577720	33577720	+	Missense_Mutation	SNP	G	G	A	rs571377722		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:33577720G>A	ENST00000262873.7	+	18	1983	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	589	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTACGCAGGCGTGGTAGGTGC	0.647																																																	0													40.0	44.0	43.0					20																	33577720		2098	4232	6330	SO:0001583	missense	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1891G>A	20.37:g.33577720G>A	ENSP00000262873:p.Val631Met		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V631M	ENST00000262873.7	37	c.1891	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140622	0.56936	.	.	ENSG00000078814	ENST00000262873	D	0.87256	-2.23	4.17	4.17	0.49024	Myosin head, motor domain (2);	0.000000	0.34338	N	0.004043	D	0.92331	0.7567	M	0.72118	2.19	0.41505	D	0.988305	D	0.76494	0.999	D	0.67103	0.949	D	0.93354	0.6721	10	0.62326	D	0.03	.	17.0319	0.86463	0.0:0.0:1.0:0.0	.	589	A7E2Y1	MYH7B_HUMAN	M	631	ENSP00000262873:V631M	ENSP00000262873:V631M	V	+	1	0	MYH7B	33041381	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	4.573000	0.60893	2.319000	0.78375	0.561000	0.74099	GTG	MYH7B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000078814		0.647	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	-	0.00	40	0	G	NM_020884		33577720	+1	tier1	-	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	16.22	62	12	SNP	1.000	A
MYO18A	399687	genome.wustl.edu	37	17	27424355	27424355	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:27424355C>T	ENST00000527372.1	-	27	4296	c.4116G>A	c.(4114-4116)cgG>cgA	p.R1372R	MYO18A_ENST00000531253.1_Silent_p.R1372R|MYO18A_ENST00000533112.1_Silent_p.R1372R|MYO18A_ENST00000354329.4_Silent_p.R1372R	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1372					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CATACTTCAGCCGCCACTCGC	0.627																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0													36.0	42.0	40.0					17																	27424355		2073	4195	6268	SO:0001819	synonymous_variant	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4116G>A	17.37:g.27424355C>T			Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.R1372	ENST00000527372.1	37	c.4116	CCDS45642.1	17																																																																																			MYO18A	-	pfam_Myosin_tail	ENSG00000196535		0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	-	0.00	49	0	C	NM_078471		27424355	-1	tier1	-	no_errors	ENST00000354329	ensembl	human	known	74_37	silent	20.99	63	17	SNP	1.000	T
MYO18B	84700	genome.wustl.edu	37	22	26224901	26224901	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:26224901G>A	ENST00000407587.2	+	15	3114	c.2945G>A	c.(2944-2946)cGg>cAg	p.R982Q	MYO18B_ENST00000536101.1_Missense_Mutation_p.R982Q|MYO18B_ENST00000335473.7_Missense_Mutation_p.R982Q			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	982	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTCTACCAGCGGACCTTTGTC	0.607																																																	0													60.0	66.0	64.0					22																	26224901		2054	4202	6256	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2945G>A	22.37:g.26224901G>A	ENSP00000386096:p.Arg982Gln		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R982Q	ENST00000407587.2	37	c.2945		22	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204389	0.79127	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.72167	-0.63;-0.63;-0.63	4.69	1.34	0.21922	Myosin head, motor domain (2);	0.148358	0.43747	D	0.000537	T	0.69833	0.3155	L	0.43923	1.385	0.28399	N	0.918709	D;D;D;D	0.67145	0.981;0.996;0.992;0.995	P;P;P;P	0.58577	0.613;0.841;0.727;0.754	T	0.62258	-0.6892	10	0.56958	D	0.05	.	6.6915	0.23174	0.1612:0.0:0.6963:0.1426	.	495;982;982;982	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	Q	982	ENSP00000441229:R982Q;ENSP00000334563:R982Q;ENSP00000386096:R982Q	ENSP00000334563:R982Q	R	+	2	0	MYO18B	24554901	0.141000	0.22595	0.979000	0.43373	0.853000	0.48598	0.415000	0.21181	0.582000	0.29556	0.563000	0.77884	CGG	MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0.00	38	0	G	NM_032608		26224901	+1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	45.21	39	33	SNP	0.987	A
MYO1A	4640	genome.wustl.edu	37	12	57422573	57422573	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:57422573delT	ENST00000442789.2	-	29	3385	c.3098delA	c.(3097-3099)aagfs	p.K1033fs	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Del_p.K1033fs|MYO1A_ENST00000544473.1_Frame_Shift_Del_p.K871fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATGACTCCCCTTTTTTTTGTA	0.557																																																	1	Unknown(1)	skin(1)											230.0	188.0	202.0					12																	57422573		2203	4300	6503	SO:0001589	frameshift_variant	0			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3098delA	12.37:g.57422573delT	ENSP00000393392:p.Lys1033fs		Q9UQD7	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.K1033fs	ENST00000442789.2	37	c.3098	CCDS8929.1	12																																																																																			MYO1A	-	pfam_Myosin_tail_2	ENSG00000166866		0.557	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2		0.00	52	0	T	NM_005379		57422573	-1	tier1		no_errors	ENST00000300119	ensembl	human	known	74_37	frame_shift_del	18.95	77	18	DEL	1.000	-
MYO1D	4642	genome.wustl.edu	37	17	30986155	30986155	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:30986155C>A	ENST00000318217.5	-	17	2627	c.2323G>T	c.(2323-2325)Gcc>Tcc	p.A775S	MYO1D_ENST00000579584.1_Missense_Mutation_p.A775S|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Missense_Mutation_p.A687S	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	775					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GTCTGCAGGGCCTCCTCAAAA	0.522											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													113.0	96.0	102.0					17																	30986155		2203	4300	6503	SO:0001583	missense	0			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2323G>T	17.37:g.30986155C>A	ENSP00000324527:p.Ala775Ser	821	A6H8V3|Q8NHP9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A775S	ENST00000318217.5	37	c.2323	CCDS32615.1	17	.	.	.	.	.	.	.	.	.	.	C	1.945	-0.442545	0.04604	.	.	ENSG00000176658	ENST00000318217	D	0.87412	-2.25	6.07	2.9	0.33743	.	0.628506	0.12769	U	0.440688	T	0.81781	0.4895	L	0.48642	1.525	0.80722	D	1	B;B	0.16396	0.017;0.017	B;B	0.18263	0.021;0.021	T	0.68530	-0.5384	10	0.08837	T	0.75	.	13.5897	0.61953	0.4314:0.5686:0.0:0.0	.	686;775	Q7Z3N6;O94832	.;MYO1D_HUMAN	S	775	ENSP00000324527:A775S	ENSP00000324527:A775S	A	-	1	0	MYO1D	28010268	1.000000	0.71417	0.969000	0.41365	0.018000	0.09664	2.339000	0.43965	0.380000	0.24823	-0.182000	0.12963	GCC	MYO1D	-	NULL	ENSG00000176658		0.522	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	-	0.00	66	0	C			30986155	-1	tier1	-	no_errors	ENST00000318217	ensembl	human	known	74_37	missense	20.00	68	17	SNP	1.000	A
MYO3B	140469	genome.wustl.edu	37	2	171371459	171371459	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:171371459A>G	ENST00000408978.4	+	29	3542	c.3399A>G	c.(3397-3399)ccA>ccG	p.P1133P	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Silent_p.P1142P|MYO3B_ENST00000409044.3_Silent_p.P1106P	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1133					peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCAGTGGGCCACATTCCCCCG	0.493																																																	0													66.0	67.0	66.0					2																	171371459		1927	4132	6059	SO:0001819	synonymous_variant	0				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3399A>G	2.37:g.171371459A>G			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.P1142	ENST00000408978.4	37	c.3426	CCDS42773.1	2																																																																																			MYO3B	-	NULL	ENSG00000071909		0.493	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	-	0.00	27	0	A			171371459	+1	tier1	-	no_errors	ENST00000334231	ensembl	human	known	74_37	silent	41.67	28	20	SNP	0.000	G
MYO7A	4647	genome.wustl.edu	37	11	76901898	76901898	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:76901898A>G	ENST00000409709.3	+	30	4179	c.3907A>G	c.(3907-3909)Att>Gtt	p.I1303V	MYO7A_ENST00000409619.2_Missense_Mutation_p.I1292V|MYO7A_ENST00000458637.2_Missense_Mutation_p.I1303V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1303	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTCCCTCTACATTGCCCTGTT	0.642																																																	0													46.0	55.0	52.0					11																	76901898		2046	4178	6224	SO:0001583	missense	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3907A>G	11.37:g.76901898A>G	ENSP00000386331:p.Ile1303Val		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.I1303V	ENST00000409709.3	37	c.3907	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876456	0.51801	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	4.97	4.97	0.65823	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.80934	0.4719	L	0.52011	1.625	0.80722	D	1	P;P;P	0.47191	0.891;0.638;0.891	P;B;P	0.61874	0.836;0.421;0.895	T	0.78986	-0.1987	10	0.32370	T	0.25	.	14.6351	0.68682	1.0:0.0:0.0:0.0	.	1292;1303;1303	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	V	1303;1303;1292;514;1302;1272;1179;484	ENSP00000386331:I1303V;ENSP00000392185:I1303V;ENSP00000386635:I1292V;ENSP00000417017:I484V	ENSP00000345075:I1179V	I	+	1	0	MYO7A	76579546	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.172000	0.77604	1.856000	0.53863	0.472000	0.43445	ATT	MYO7A	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000137474		0.642	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	-	0.00	23	0	A	NM_000260		76901898	+1	tier1	-	no_errors	ENST00000409709	ensembl	human	known	74_37	missense	37.29	37	22	SNP	1.000	G
MYRFL	196446	genome.wustl.edu	37	12	70321513	70321514	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:70321513_70321514insA	ENST00000552032.2	+	15	2029_2030	c.1815_1816insA	c.(1816-1818)aaafs	p.K606fs	MYRFL_ENST00000547771.2_Frame_Shift_Ins_p.K606fs|RP11-611E13.2_ENST00000549419.1_RNA|MYRFL_ENST00000299350.4_5'UTR			Q96LU7	MRFL_HUMAN	myelin regulatory factor-like	606						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGGCCGTTCATAAAAAAAACAA	0.327																																																	0																																										SO:0001589	frameshift_variant	0			AK057785		12q15	2012-12-19	2012-12-19	2012-12-19	ENSG00000166268	ENSG00000166268			26316	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 15"", ""chromosome 12 open reading frame 28"""	C12orf15, C12orf28			Standard	XM_006709961		Approved	FLJ25056, bcm1377		Q96LU7	OTTHUMG00000169438	ENST00000552032.2:c.1823dupA	12.37:g.70321521_70321521dupA	ENSP00000448753:p.Lys606fs			Frame_Shift_Ins	INS	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.N607fs	ENST00000552032.2	37	c.1815_1816		12																																																																																			MYRFL	-	NULL	ENSG00000166268		0.327	MYRFL-004	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	MYRFL	HGNC	protein_coding	OTTHUMT00000404016.2		0.00	21	0	-	NM_182530		70321514	+1	tier1		no_errors	ENST00000552032	ensembl	human	putative	74_37	frame_shift_ins	27.27	16	6	INS	0.000:0.000	A
MYT1L	23040	genome.wustl.edu	37	2	1983001	1983001	+	Splice_Site	SNP	T	T	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:1983001T>G	ENST00000399161.2	-	8	837		c.e8-2		MYT1L_ENST00000428368.2_Splice_Site	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGGGACAGCTGCAACAGGAA	0.542																																																	0													35.0	38.0	37.0					2																	1983001		2192	4298	6490	SO:0001630	splice_region_variant	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.90-2A>C	2.37:g.1983001T>G			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Splice_Site	SNP	-	e3-2	ENST00000399161.2	37	c.90-2		2	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822122	0.71028	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0278	0.71682	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYT1L	1962008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.789000	0.75110	1.948000	0.56530	0.533000	0.62120	.	MYT1L	-	-	ENSG00000186487		0.542	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	-	0.00	21	0	T	NM_015025	Intron	1983001	-1	tier1	-	no_errors	ENST00000399161	ensembl	human	known	74_37	splice_site	16.22	31	6	SNP	1.000	G
NAA20	51126	genome.wustl.edu	37	20	20013995	20013995	+	3'UTR	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:20013995G>C	ENST00000334982.4	+	0	982				CRNKL1_ENST00000521379.1_5'Flank|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_3'UTR|NAA20_ENST00000398602.2_3'UTR	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit							cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						ATTGTTTCCAGTTAGCAATAT	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.*164G>C	20.37:g.20013995G>C			A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	RNA	SNP	-	NULL	ENST00000334982.4	37	NULL	CCDS13141.1	20																																																																																			NAA20	-	-	ENSG00000173418		0.313	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA20	HGNC	protein_coding	OTTHUMT00000078217.2	-	0.00	52	0	G	NM_016100		20013995	+1	tier1	-	no_errors	ENST00000463154	ensembl	human	known	74_37	rna	7.00	92	7	SNP	0.000	C
NAV2	89797	genome.wustl.edu	37	11	20141368	20141368	+	IGR	DEL	A	A	-	rs113739584		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:20141368delA	ENST00000396087.3	+	0	7882				NAV2_ENST00000349880.4_3'UTR|NAV2-AS1_ENST00000526642.1_RNA|NAV2_ENST00000311043.8_3'UTR|NAV2_ENST00000360655.4_3'UTR|NAV2_ENST00000396085.1_3'UTR|NAV2_ENST00000527559.2_3'UTR|NAV2_ENST00000540292.1_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2						glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGGAAAAAGAAAAAAAAAAA	0.408																																																	0																																										SO:0001628	intergenic_variant	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837		11.37:g.20141368delA			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	RNA	DEL	-	NULL	ENST00000396087.3	37	NULL	CCDS58126.1	11																																																																																			NAV2-AS1	-	-	ENSG00000254894		0.408	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2-AS1	HGNC	protein_coding	OTTHUMT00000324112.1		0.00	21	0	A	NM_145117		20141368	-1	tier1		no_errors	ENST00000526642	ensembl	human	known	74_37	rna	29.03	22	9	DEL	0.000	-
NCKAP5	344148	genome.wustl.edu	37	2	133489420	133489420	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:133489420T>G	ENST00000409261.1	-	17	5706	c.5333A>C	c.(5332-5334)gAc>gCc	p.D1778A	NCKAP5_ENST00000409213.1_Missense_Mutation_p.D459A|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1778A|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Missense_Mutation_p.D459A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1778										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCGCTGGCCGTCTGTGGAGGA	0.592																																																	0													93.0	97.0	95.0					2																	133489420		2070	4201	6271	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5333A>C	2.37:g.133489420T>G	ENSP00000387128:p.Asp1778Ala		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.D1778A	ENST00000409261.1	37	c.5333	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	T	6.394	0.440770	0.12104	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.46063	2.9;0.88;2.9;0.88	5.2	4.04	0.47022	.	0.644862	0.11907	U	0.518030	T	0.30727	0.0774	L	0.27053	0.805	0.09310	N	1	P;B	0.41848	0.763;0.003	B;B	0.37144	0.242;0.006	T	0.08351	-1.0726	10	0.56958	D	0.05	.	11.2981	0.49290	0.0:0.0:0.2889:0.7111	.	459;1778	O14513-2;O14513	.;NCKP5_HUMAN	A	1778;459;1778;459;459	ENSP00000387128:D1778A;ENSP00000386952:D459A;ENSP00000380603:D1778A;ENSP00000385692:D459A	ENSP00000380603:D1778A	D	-	2	0	NCKAP5	133205890	0.998000	0.40836	0.062000	0.19696	0.027000	0.11550	2.905000	0.48727	1.011000	0.39340	-0.258000	0.10820	GAC	NCKAP5	-	NULL	ENSG00000176771		0.592	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0.00	38	0	T	NM_207481		133489420	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	35.37	53	29	SNP	0.163	G
NCKAP5	344148	genome.wustl.edu	37	2	133539753	133539753	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:133539753T>A	ENST00000409261.1	-	14	5004	c.4631A>T	c.(4630-4632)aAc>aTc	p.N1544I	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.N1544I|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1544										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAGTTGTCTGTTTCCAAACCC	0.388																																																	0													101.0	101.0	101.0					2																	133539753		1832	4084	5916	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4631A>T	2.37:g.133539753T>A	ENSP00000387128:p.Asn1544Ile		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.N1544I	ENST00000409261.1	37	c.4631	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	T	12.14	1.849486	0.32699	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10099	2.91;2.91	4.96	2.62	0.31277	.	.	.	.	.	T	0.05273	0.0140	N	0.12182	0.205	0.80722	D	1	B	0.24721	0.11	B	0.29598	0.104	T	0.41052	-0.9530	9	0.19590	T	0.45	.	4.2213	0.10559	0.1594:0.1681:0.0:0.6725	.	1544	O14513	NCKP5_HUMAN	I	1544	ENSP00000387128:N1544I;ENSP00000380603:N1544I	ENSP00000380603:N1544I	N	-	2	0	NCKAP5	133256223	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	1.628000	0.37060	0.401000	0.25424	-0.353000	0.07706	AAC	NCKAP5	-	NULL	ENSG00000176771		0.388	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0.00	31	0	T	NM_207481		133539753	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.999	A
NCKAP5	344148	genome.wustl.edu	37	2	133540491	133540491	+	Missense_Mutation	SNP	C	C	T	rs545006757		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:133540491C>T	ENST00000409261.1	-	14	4266	c.3893G>A	c.(3892-3894)cGc>cAc	p.R1298H	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1298H|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1298										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATCTGAGTGCGGACTTTGCC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17932	0.001		0.0	False		,,,				2504	0.0																0													84.0	85.0	85.0					2																	133540491		1958	4160	6118	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3893G>A	2.37:g.133540491C>T	ENSP00000387128:p.Arg1298His		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.R1298H	ENST00000409261.1	37	c.3893	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314365	0.81358	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.29655	1.56;1.56	5.5	5.5	0.81552	.	0.000000	0.33075	U	0.005314	T	0.46908	0.1417	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38693	-0.9649	10	0.66056	D	0.02	.	17.7704	0.88490	0.0:1.0:0.0:0.0	.	1298	O14513	NCKP5_HUMAN	H	1298	ENSP00000387128:R1298H;ENSP00000380603:R1298H	ENSP00000380603:R1298H	R	-	2	0	NCKAP5	133256961	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.542000	0.73869	2.854000	0.98071	0.655000	0.94253	CGC	NCKAP5	-	NULL	ENSG00000176771		0.567	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0.00	72	0	C	NM_207481		133540491	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	22.35	66	19	SNP	1.000	T
NCL	4691	genome.wustl.edu	37	2	232326393	232326393	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:232326393C>G	ENST00000322723.4	-	3	711	c.471G>C	c.(469-471)gaG>gaC	p.E157D	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	157	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		cgtcatcctcctcatcctcct	0.537																																																	0													488.0	294.0	360.0					2																	232326393		2203	4300	6503	SO:0001583	missense	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.471G>C	2.37:g.232326393C>G	ENSP00000318195:p.Glu157Asp		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.E157D	ENST00000322723.4	37	c.471	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.596733	0.00857	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000454824;ENST00000417652;ENST00000453992;ENST00000436894	T;T;T;T;T	0.33216	1.96;3.94;3.94;1.86;1.42	3.89	-7.78	0.01223	.	0.727055	0.14018	N	0.347012	T	0.08044	0.0201	N	0.03154	-0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14309	-1.0477	10	0.06757	T	0.87	-1.1025	6.7074	0.23258	0.1362:0.4359:0.348:0.0799	.	157	P19338	NUCL_HUMAN	D	157;99;157;141;141;141;141	ENSP00000318195:E157D;ENSP00000401620:E141D;ENSP00000392747:E141D;ENSP00000413775:E141D;ENSP00000401322:E141D	ENSP00000318195:E157D	E	-	3	2	NCL	232034637	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-5.019000	0.00159	-3.214000	0.00213	-1.571000	0.00872	GAG	NCL	-	NULL	ENSG00000115053		0.537	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1		0.00	173	0	C	NM_005381		232326393	-1			no_errors	ENST00000322723	ensembl	human	known	74_37	missense	11.42	224	29	SNP	0.001	G
NCOA6	23054	genome.wustl.edu	37	20	33346694	33346694	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:33346694delG	ENST00000374796.2	-	7	3127	c.557delC	c.(556-558)ccgfs	p.P186fs	NCOA6_ENST00000359003.2_Frame_Shift_Del_p.P186fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	186	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATTTCCACCCGGGGGTATCAT	0.453																																																	0													89.0	90.0	89.0					20																	33346694		2203	4300	6503	SO:0001589	frameshift_variant	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.557delC	20.37:g.33346694delG	ENSP00000363929:p.Pro186fs		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Frame_Shift_Del	DEL	NULL	p.P186fs	ENST00000374796.2	37	c.557	CCDS13241.1	20																																																																																			NCOA6	-	NULL	ENSG00000198646		0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2		0.00	20	0	G	NM_014071		33346694	-1	tier1		no_errors	ENST00000359003	ensembl	human	known	74_37	frame_shift_del	25.58	32	11	DEL	0.996	-
NCOR2	9612	genome.wustl.edu	37	12	124862853	124862853	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:124862853C>T	ENST00000405201.1	-	18	2097	c.2097G>A	c.(2095-2097)gtG>gtA	p.V699V	NCOR2_ENST00000397355.1_Silent_p.V699V|NCOR2_ENST00000404621.1_Silent_p.V698V|NCOR2_ENST00000429285.2_Silent_p.V698V|NCOR2_ENST00000356219.3_Silent_p.V699V|NCOR2_ENST00000404121.2_Silent_p.V269V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	699					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CATCCTCCACCACGGGCGGGA	0.662																																																	0													65.0	78.0	74.0					12																	124862853		2087	4204	6291	SO:0001819	synonymous_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2097G>A	12.37:g.124862853C>T			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.V699	ENST00000405201.1	37	c.2097	CCDS41858.2	12																																																																																			NCOR2	-	NULL	ENSG00000196498		0.662	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0.00	44	0	C	NM_006312		124862853	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	silent	14.29	72	12	SNP	0.615	T
NDUFB2	4708	genome.wustl.edu	37	7	140395555	140395556	+	5'Flank	DEL	TT	TT	-	rs373239942|rs538494031	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:140395555_140395556delTT	ENST00000476279.1	+	0	0				NDUFB2_ENST00000247866.4_5'Flank|NDUFB2_ENST00000471136.1_5'Flank|NDUFB2_ENST00000482954.1_Intron|ADCK2_ENST00000476491.1_Intron|NDUFB2_ENST00000461457.1_5'Flank|NDUFB2-AS1_ENST00000465466.1_RNA|NDUFB2_ENST00000465506.1_5'Flank|NDUFB2_ENST00000460088.1_5'Flank|NDUFB2_ENST00000472695.1_5'Flank|NDUFB2_ENST00000476470.1_5'Flank|NDUFB2_ENST00000204307.5_5'Flank			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa						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)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)					TTAATTTCTCTTTTTTTTTTTT	0.485																																																	0																																										SO:0001631	upstream_gene_variant	0			AF050639	CCDS5862.1	7q34	2011-07-04	2002-08-29		ENSG00000090266	ENSG00000090266		"""Mitochondrial respiratory chain complex / Complex I"""	7697	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase AGGG subunit"", ""complex I AGGG subunit"""	603838	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)"""			9763677, 9878551	Standard	NM_004546		Approved	AGGG, CI-AGGG	uc003vwa.3	O95178	OTTHUMG00000157424		7.37:g.140395565_140395566delTT	Exception_encountered		Q6FGI6	RNA	DEL	-	NULL	ENST00000476279.1	37	NULL	CCDS5862.1	7																																																																																			NDUFB2-AS1	-	-	ENSG00000240889		0.485	NDUFB2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NDUFB2-AS1	HGNC	protein_coding	OTTHUMT00000348784.1		0.00	16	0	TT	NM_004546		140395556	-1	tier1		no_errors	ENST00000465466	ensembl	human	known	74_37	rna	20.59	27	7	DEL	0.000:0.000	-
NDUFB7	4713	genome.wustl.edu	37	19	14677646	14677646	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:14677646C>T	ENST00000215565.2	-	2	273	c.212G>A	c.(211-213)cGt>cAt	p.R71H		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	71					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)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						GAAGCTGTCACGCTTGCACTT	0.652																																																	0													57.0	47.0	50.0					19																	14677646		2187	4276	6463	SO:0001583	missense	0				CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"""Mitochondrial respiratory chain complex / Complex I"""	7702	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase B18 subunit"", ""complex I B18 subunit"""	603842	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"""			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.212G>A	19.37:g.14677646C>T	ENSP00000215565:p.Arg71His		Q6ICN9|Q9UI16	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_B18_su	p.R71H	ENST00000215565.2	37	c.212	CCDS12314.1	19	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568208	0.86439	.	.	ENSG00000099795	ENST00000215565	T	0.50001	0.76	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.73430	2.235	0.80722	D	1	P	0.50943	0.94	P	0.47044	0.535	T	0.61806	-0.6987	10	0.51188	T	0.08	-25.8465	15.1531	0.72717	0.0:1.0:0.0:0.0	.	71	P17568	NDUB7_HUMAN	H	71	ENSP00000215565:R71H	ENSP00000215565:R71H	R	-	2	0	NDUFB7	14538646	1.000000	0.71417	0.944000	0.38274	0.576000	0.36127	6.981000	0.76166	2.441000	0.82636	0.585000	0.79938	CGT	NDUFB7	-	pfam_NADH_UbQ_OxRdtase_B18_su	ENSG00000099795		0.652	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB7	HGNC	protein_coding	OTTHUMT00000466025.1	-	0.00	36	0	C	NM_004146		14677646	-1	tier1	-	no_errors	ENST00000215565	ensembl	human	known	74_37	missense	18.03	50	11	SNP	0.998	T
NDUFS2	4720	genome.wustl.edu	37	1	161179901	161179901	+	Splice_Site	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:161179901G>T	ENST00000367993.3	+	8	1151	c.703G>T	c.(703-705)Gac>Tac	p.D235Y	NDUFS2_ENST00000476409.2_Splice_Site_p.D137Y|NDUFS2_ENST00000392179.4_Splice_Site_p.D235Y|NDUFS2_ENST00000465923.1_3'UTR	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	235					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	TGGCTTCTAGGACCTACCCCT	0.493											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													115.0	111.0	112.0					1																	161179901		2203	4300	6503	SO:0001630	splice_region_variant	0			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.703-1G>T	1.37:g.161179901G>T		1814	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H	p.D235Y	ENST00000367993.3	37	c.703	CCDS1224.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376832	0.82682	.	.	ENSG00000158864	ENST00000367993;ENST00000392179;ENST00000476409;ENST00000546154	D;D;D	0.92348	-3.02;-3.02;-3.02	5.29	5.29	0.74685	NADH-quinone oxidoreductase, subunit D (1);	0.096550	0.64402	D	0.000002	D	0.98298	0.9436	H	0.99842	4.835	0.80722	D	1.000000	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.998	D	0.99593	1.0976	8	.	.	.	.	17.859	0.88775	0.0:0.0:1.0:0.0	.	184;235;235	B7Z792;Q53HG2;O75306	.;.;NDUS2_HUMAN	Y	235;235;137;26	ENSP00000356972:D235Y;ENSP00000376018:D235Y;ENSP00000446447:D137Y	.	D	+	1	0	NDUFS2	159446525	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	8.868000	0.92320	2.741000	0.93983	0.655000	0.94253	GAC	NDUFS2	-	pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H	ENSG00000158864		0.493	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	-	0.00	46	0	G	NM_004550	Missense_Mutation	161179901	+1	tier1	-	no_errors	ENST00000367993	ensembl	human	known	74_37	missense	24.07	41	13	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152410372	152410372	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:152410372G>A	ENST00000172853.10	-	98	14640	c.14493C>T	c.(14491-14493)caC>caT	p.H4831H	NEB_ENST00000603639.1_Silent_p.H6532H|NEB_ENST00000409198.1_Silent_p.H4831H|NEB_ENST00000604864.1_Silent_p.H6532H|NEB_ENST00000427231.2_Silent_p.H6532H|NEB_ENST00000397345.3_Silent_p.H6532H			P20929	NEBU_HUMAN	nebulin	4831					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTTCCTGACGTGATCATTGA	0.542																																																	0													101.0	102.0	102.0					2																	152410372		2000	4171	6171	SO:0001819	synonymous_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14493C>T	2.37:g.152410372G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.H6532	ENST00000172853.10	37	c.19596		2																																																																																			NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.542	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	27	0	G	NM_004543		152410372	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	27.69	47	18	SNP	0.992	A
NFATC2	4773	genome.wustl.edu	37	20	50140068	50140068	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:50140068C>T	ENST00000396009.3	-	2	931	c.712G>A	c.(712-714)Gtg>Atg	p.V238M	NFATC2_ENST00000610033.1_Missense_Mutation_p.V19M|NFATC2_ENST00000414705.1_Missense_Mutation_p.V218M|NFATC2_ENST00000371564.3_Missense_Mutation_p.V238M|NFATC2_ENST00000609943.1_Missense_Mutation_p.V218M|NFATC2_ENST00000609507.1_Missense_Mutation_p.V19M	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	238	3 X approximate SP repeats.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V238L(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGACGGGGCACGGGCGAGTGG	0.667																																																	1	Substitution - Missense(1)	lung(1)											37.0	45.0	42.0					20																	50140068		2174	4261	6435	SO:0001583	missense	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.712G>A	20.37:g.50140068C>T	ENSP00000379330:p.Val238Met		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.V238M	ENST00000396009.3	37	c.712	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596821	0.66332	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.80393	-1.37;-1.37;-1.37	5.58	4.58	0.56647	.	0.334456	0.32244	N	0.006366	T	0.69797	0.3151	L	0.29908	0.895	0.29337	N	0.86632	P;P;P;P	0.50819	0.939;0.919;0.919;0.834	B;B;B;B	0.41646	0.34;0.34;0.362;0.362	T	0.70733	-0.4791	10	0.54805	T	0.06	-10.5257	11.1298	0.48341	0.407:0.593:0.0:0.0	.	218;218;238;238	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	M	238;238;19;218	ENSP00000360619:V238M;ENSP00000379330:V238M;ENSP00000396471:V218M	ENSP00000360619:V238M	V	-	1	0	NFATC2	49573475	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.977000	0.63792	2.626000	0.88956	0.313000	0.20887	GTG	NFATC2	-	NULL	ENSG00000101096		0.667	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	-	0.00	28	0	C	NM_012340		50140068	-1	tier1	-	no_errors	ENST00000396009	ensembl	human	known	74_37	missense	50.88	56	58	SNP	1.000	T
NFATC2IP	84901	genome.wustl.edu	37	16	28967541	28967541	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:28967541A>T	ENST00000320805.4	+	5	804	c.729A>T	c.(727-729)caA>caT	p.Q243H	RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000564978.1_Intron|RP11-264B17.2_ENST00000568057.1_RNA|NFATC2IP_ENST00000568148.1_5'Flank|MIR4517_ENST00000578855.1_RNA|NFATC2IP_ENST00000562977.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	243					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GTCAAGAGCAACAGGGCCAAG	0.602																																																	0													65.0	57.0	60.0					16																	28967541		2197	4300	6497	SO:0001583	missense	0			AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.729A>T	16.37:g.28967541A>T	ENSP00000324792:p.Gln243His		B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.Q243H	ENST00000320805.4	37	c.729	CCDS10645.1	16	.	.	.	.	.	.	.	.	.	.	A	0.144	-1.098674	0.01843	.	.	ENSG00000176953	ENST00000320805	T	0.17054	2.3	5.07	-5.83	0.02325	.	1.053130	0.07529	N	0.911840	T	0.03520	0.0101	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39502	-0.9611	10	0.13108	T	0.6	1.2638	1.7254	0.02921	0.1309:0.1807:0.2399:0.4485	.	243	Q8NCF5	NF2IP_HUMAN	H	243	ENSP00000324792:Q243H	ENSP00000324792:Q243H	Q	+	3	2	NFATC2IP	28875042	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.530000	0.02221	-0.663000	0.05331	-2.373000	0.00235	CAA	NFATC2IP	-	NULL	ENSG00000176953		0.602	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC2IP	HGNC	protein_coding	OTTHUMT00000214999.2	-	0.00	30	0	A	NM_032815		28967541	+1	tier1	-	no_errors	ENST00000320805	ensembl	human	known	74_37	missense	38.89	22	14	SNP	0.000	T
NFRKB	4798	genome.wustl.edu	37	11	129762692	129762692	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:129762692C>A	ENST00000446488.3	-	2	156	c.53G>T	c.(52-54)gGa>gTa	p.G18V	NFRKB_ENST00000526940.1_Missense_Mutation_p.G18V|NFRKB_ENST00000524746.1_Missense_Mutation_p.G18V|NFRKB_ENST00000304521.5_Missense_Mutation_p.G18V|NFRKB_ENST00000524794.1_Missense_Mutation_p.G31V	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	18					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ATGGCCATCTCCACACGGACC	0.517																																																	0													199.0	163.0	175.0					11																	129762692		2201	4297	6498	SO:0001583	missense	0				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.53G>T	11.37:g.129762692C>A	ENSP00000400476:p.Gly18Val		Q12869|Q15312|Q9H048	Missense_Mutation	SNP	NULL	p.G31V	ENST00000446488.3	37	c.92	CCDS44770.1	11	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800122	0.31869	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755;ENST00000532225;ENST00000529319;ENST00000526940;ENST00000526884;ENST00000531318	.	.	.	5.24	5.24	0.73138	.	0.334633	0.31872	N	0.006925	T	0.41351	0.1155	N	0.16478	0.41	0.51482	D	0.999923	B;B;B;B	0.20550	0.027;0.027;0.046;0.046	B;B;B;B	0.17722	0.008;0.008;0.019;0.019	T	0.25984	-1.0116	9	0.32370	T	0.25	-8.0676	13.4471	0.61146	0.1569:0.8431:0.0:0.0	.	18;18;18;31	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	V	18;18;31;18;18;18;18;18;18;18	.	ENSP00000303800:G18V	G	-	2	0	NFRKB	129267902	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	3.054000	0.49908	2.458000	0.83093	0.585000	0.79938	GGA	NFRKB	-	NULL	ENSG00000170322		0.517	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFRKB	HGNC	protein_coding	OTTHUMT00000386063.2	-	0.00	19	0	C	NM_006165		129762692	-1	tier1	-	no_errors	ENST00000524794	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	A
NFYA	4800	genome.wustl.edu	37	6	41059278	41059279	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:41059278_41059279insT	ENST00000341376.6	+	7	760_761	c.559_560insT	c.(559-561)gttfs	p.V187fs	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Frame_Shift_Ins_p.V158fs	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	187					cellular lipid metabolic process (GO:0044255)|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 stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TACAGTCCCTGTTTCAGGCATG	0.436																																																	0																																										SO:0001589	frameshift_variant	0				CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.562dupT	6.37:g.41059281_41059281dupT	ENSP00000345702:p.Val187fs		Q8IXU0	Frame_Shift_Ins	INS	pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB	p.S188fs	ENST00000341376.6	37	c.559_560	CCDS4849.1	6																																																																																			NFYA	-	NULL	ENSG00000001167		0.436	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYA	HGNC	protein_coding	OTTHUMT00000040496.1		0.00	26	0	-			41059279	+1	tier1		no_errors	ENST00000341376	ensembl	human	known	74_37	frame_shift_ins	40.91	13	9	INS	1.000:1.000	T
NID1	4811	genome.wustl.edu	37	1	236141179	236141179	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:236141179G>A	ENST00000264187.6	-	20	3814	c.3732C>T	c.(3730-3732)atC>atT	p.I1244I	NID1_ENST00000366595.3_Silent_p.I1111I	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1244	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.I1244I(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	ATTTCTGTTCGATACAGTCAA	0.502																																																	1	Substitution - coding silent(1)	large_intestine(1)											113.0	109.0	110.0					1																	236141179		2203	4300	6503	SO:0001819	synonymous_variant	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3732C>T	1.37:g.236141179G>A			Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.I1244	ENST00000264187.6	37	c.3732	CCDS1608.1	1																																																																																			NID1	-	smart_EG-like_dom	ENSG00000116962		0.502	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	-	0.00	24	0	G	NM_002508		236141179	-1	tier1	-	no_errors	ENST00000264187	ensembl	human	known	74_37	silent	30.00	28	12	SNP	0.039	A
NKAPL	222698	genome.wustl.edu	37	6	28227519	28227520	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:28227519_28227520delGA	ENST00000343684.3	+	1	422_423	c.370_371delGA	c.(370-372)gagfs	p.E124fs	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	124										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAGGCTGAAGGAGAGAGAGAGG	0.535																																																	0																																										SO:0001589	frameshift_variant	0			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.370_371delGA	6.37:g.28227527_28227528delGA	ENSP00000345716:p.Glu124fs		Q3MIV1|Q9H4Q7	Frame_Shift_Del	DEL	pfam_DUF926	p.R127fs	ENST00000343684.3	37	c.370_371	CCDS34353.1	6																																																																																			NKAPL	-	NULL	ENSG00000189134		0.535	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1		0.00	26	0	GA			28227520	+1	tier1		no_errors	ENST00000343684	ensembl	human	known	74_37	frame_shift_del	12.50	28	4	DEL	0.996:1.000	-
NKD1	85407	genome.wustl.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(856-858)cccfs	p.P286fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	286					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599																																																	0																																										SO:0001589	frameshift_variant	0			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.862dupC	16.37:g.50667141_50667141dupC	ENSP00000268459:p.Pro286fs		B2RC39|Q8WZ08	Frame_Shift_Ins	INS	pfscan_EF_hand_dom	p.R287fs	ENST00000268459.3	37	c.855_856	CCDS10743.1	16																																																																																			NKD1	-	NULL	ENSG00000140807		0.599	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKD1	HGNC	protein_coding	OTTHUMT00000256873.1		0.00	24	0	-			50667135	+1	tier1		no_errors	ENST00000268459	ensembl	human	known	74_37	frame_shift_ins	36.92	41	24	INS	1.000:1.000	C
NKRF	55922	genome.wustl.edu	37	X	118722358	118722359	+	3'UTR	DEL	TT	TT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:118722358_118722359delTT	ENST00000371527.1	-	0	3681_3682				NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000542113.1_3'UTR|NKRF_ENST00000304449.5_3'UTR	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor						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						TTTTTATACATTTTTTTTTTTT	0.371																																																	0																																										SO:0001624	3_prime_UTR_variant	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.*957AA>-	X.37:g.118722368_118722369delTT			G3V1N1|Q4VC41|Q9UJ91	RNA	DEL	-	NULL	ENST00000371527.1	37	NULL	CCDS35375.1	X																																																																																			NKRF	-	-	ENSG00000186416		0.371	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKRF	HGNC	protein_coding	OTTHUMT00000058044.1		0.00	23	0	TT	NM_017544		118722359	-1	tier1		no_errors	ENST00000487600	ensembl	human	known	74_37	rna	54.55	10	12	DEL	0.949:0.947	-
NLGN3	54413	genome.wustl.edu	37	X	70390928	70390929	+	IGR	DEL	TT	TT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:70390928_70390929delTT	ENST00000358741.3	+	0	3046				NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_3'UTR|NLGN3_ENST00000536169.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3						adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TTGTTGTTGGTTTTTTTTTTTT	0.317																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0																																										SO:0001628	intergenic_variant	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790		X.37:g.70390938_70390939delTT			B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	RNA	DEL	-	NULL	ENST00000358741.3	37	NULL	CCDS55441.1	X																																																																																			NLGN3	-	-	ENSG00000196338		0.317	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1		0.00	22	0	TT	NM_018977		70390929	+1	tier1		no_errors	ENST00000476589	ensembl	human	known	74_37	rna	47.50	21	19	DEL	0.997:0.997	-
NLRC5	84166	genome.wustl.edu	37	16	57113482	57113482	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:57113482C>T	ENST00000262510.6	+	46	5487	c.5262C>T	c.(5260-5262)aaC>aaT	p.N1754N	NLRC5_ENST00000539144.1_Silent_p.N1725N|NLRC5_ENST00000308149.7_Silent_p.N1725N|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1754					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGATTGACAACCAGACTGCCA	0.562																																																	0													134.0	115.0	122.0					16																	57113482		2198	4300	6498	SO:0001819	synonymous_variant	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5262C>T	16.37:g.57113482C>T			B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.N1754	ENST00000262510.6	37	c.5262	CCDS10773.1	16																																																																																			NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000140853		0.562	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1		0.00	23	0	C	NM_032206		57113482	+1			no_errors	ENST00000262510	ensembl	human	known	74_37	silent	10.45	60	7	SNP	0.997	T
NLRP12	91662	genome.wustl.edu	37	19	54313232	54313232	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:54313232G>A	ENST00000324134.6	-	3	1849	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	NLRP12_ENST00000391775.3_Missense_Mutation_p.R561C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R561C|NLRP12_ENST00000391773.1_Missense_Mutation_p.R561C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R561C|NLRP12_ENST00000535162.1_Missense_Mutation_p.R561C|NLRP12_ENST00000354278.3_Missense_Mutation_p.R561C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R561C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	561					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AACAGGAAGCGGCTGGTGAGT	0.612																																																	0													86.0	81.0	83.0					19																	54313232		2203	4300	6503	SO:0001583	missense	0			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1681C>T	19.37:g.54313232G>A	ENSP00000319377:p.Arg561Cys		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R561C	ENST00000324134.6	37	c.1681	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	G	9.456	1.091841	0.20471	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	4.05	4.05	0.47172	.	0.421101	0.17587	N	0.168891	D	0.91908	0.7438	M	0.66506	2.035	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	P;P;P;D	0.63488	0.826;0.826;0.826;0.915	D	0.89619	0.3847	10	0.26408	T	0.33	.	12.1618	0.54107	0.0:0.0:1.0:0.0	.	561;561;561;561	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	C	561	ENSP00000319377:R561C;ENSP00000438030:R561C;ENSP00000340473:R561C;ENSP00000346231:R561C;ENSP00000375655:R561C;ENSP00000375653:R561C;ENSP00000375652:R561C	ENSP00000319377:R561C	R	-	1	0	NLRP12	59005044	0.103000	0.21917	0.438000	0.26821	0.158000	0.22134	2.535000	0.45685	1.991000	0.58162	0.485000	0.47835	CGC	NLRP12	-	NULL	ENSG00000142405		0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	-	0.00	20	0	G	NM_144687		54313232	-1	tier1	-	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	50.00	12	12	SNP	1.000	A
NLRP9	338321	genome.wustl.edu	37	19	56249721	56249722	+	Frame_Shift_Ins	INS	-	-	A	rs568593996|rs199475846	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:56249721_56249722insA	ENST00000332836.2	-	1	46_47	c.19_20insT	c.(19-21)tcgfs	p.S7fs	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	7	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCCAAAATCCGAAAAAAAAGAT	0.396														7	0.00139776	0.0	0.0	5008	,	,		17707	0.002		0.0	False		,,,				2504	0.0051																0										11,4237		0,11,2113						3.0	0.0			73	8,8230		0,8,4111	no	frameshift	NLRP9	NM_176820.2		0,19,6224	A1A1,A1R,RR		0.0971,0.2589,0.1522				19,12467				SO:0001589	frameshift_variant	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.20dupT	19.37:g.56249729_56249729dupA	ENSP00000331857:p.Ser7fs		B2RN12|Q86W27	Frame_Shift_Ins	INS	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S7fs	ENST00000332836.2	37	c.20_19	CCDS12934.1	19																																																																																			NLRP9	-	superfamily_DEATH-like_dom,pfscan_DAPIN	ENSG00000185792		0.396	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1		0.00	43	0	-	NM_176820		56249722	-1	tier1		no_errors	ENST00000332836	ensembl	human	known	74_37	frame_shift_ins	39.13	28	18	INS	0.014:0.009	A
NME5	8382	genome.wustl.edu	37	5	137451362	137451362	+	3'UTR	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:137451362delT	ENST00000265191.2	-	0	696				RNU6-460P_ENST00000391158.1_RNA|snoU13_ENST00000459094.1_RNA	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5						cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTTTCGAGGATTTTTTTTTTA	0.303																																																	0										36,73,4133		0,0,36,0,73,2012	37.0	44.0	42.0			1.7	0.0	5		43	10,87,8127		0,0,10,2,83,4017	no	utr-3	NME5	NM_003551.2		0,0,46,2,156,6029	A1A1,A1A2,A1R,A2A2,A2R,RR		1.1795,2.5695,1.6525			137451362	46,160,12260	2192	4285	6477	SO:0001624	3_prime_UTR_variant	0			Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"""radial spoke 23 homolog (Chlamydomonas)"""	603575	"""non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"""			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.*8A>-	5.37:g.137451362delT			B2R5G7	RNA	DEL	-	NULL	ENST00000265191.2	37	NULL	CCDS4197.1	5																																																																																			NME5	-	-	ENSG00000112981		0.303	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME5	HGNC	protein_coding	OTTHUMT00000251286.1		0.00	55	0	T	NM_003551		137451362	-1	tier1		no_errors	ENST00000514481	ensembl	human	known	74_37	rna	15.09	45	8	DEL	0.001	-
NOC2L	26155	genome.wustl.edu	37	1	889215	889215	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:889215C>T	ENST00000327044.6	-	8	884	c.835G>A	c.(835-837)Gtg>Atg	p.V279M	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	279					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGCACCAGCACGCTGATGTGC	0.652																																																	0													37.0	40.0	39.0					1																	889215		2203	4300	6503	SO:0001583	missense	0			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.835G>A	1.37:g.889215C>T	ENSP00000317992:p.Val279Met		Q5SVA3|Q9BTN6	Missense_Mutation	SNP	pfam_Noc2,superfamily_ARM-type_fold	p.V279M	ENST00000327044.6	37	c.835	CCDS3.1	1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593088	0.28357	.	.	ENSG00000188976	ENST00000327044	T	0.67345	-0.26	4.28	0.609	0.17575	Armadillo-type fold (1);	0.744477	0.13381	N	0.392118	T	0.47930	0.1472	L	0.43152	1.355	0.09310	N	1	D;D;P	0.54772	0.968;0.968;0.89	B;B;B	0.38056	0.264;0.264;0.206	T	0.39623	-0.9605	10	0.34782	T	0.22	-5.5455	3.9746	0.09468	0.1717:0.3267:0.0:0.5016	.	279;279;46	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	M	279	ENSP00000317992:V279M	ENSP00000317992:V279M	V	-	1	0	NOC2L	879078	0.001000	0.12720	0.082000	0.20525	0.381000	0.30169	-0.324000	0.07986	0.221000	0.20879	0.305000	0.20034	GTG	NOC2L	-	superfamily_ARM-type_fold	ENSG00000188976		0.652	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC2L	HGNC	protein_coding	OTTHUMT00000097869.1	-	0.00	24	0	C	NM_015658		889215	-1	tier1	-	no_errors	ENST00000327044	ensembl	human	known	74_37	missense	33.33	20	10	SNP	0.008	T
ATP1B1	481	genome.wustl.edu	37	1	169101823	169101823	+	3'UTR	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:169101823A>G	ENST00000367816.1	+	0	2471				NME7_ENST00000367811.3_3'UTR|NME7_ENST00000472647.1_3'UTR			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide						blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GCAGTACCCCATAGACTGGTG	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.*1030A>G	1.37:g.169101823A>G			Q5TGZ3	RNA	SNP	-	NULL	ENST00000367816.1	37	NULL	CCDS1276.1	1																																																																																			NME7	-	-	ENSG00000143156		0.313	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NME7	HGNC	protein_coding	OTTHUMT00000083696.1	-	0.00	11	0	A			169101823	-1	tier1	-	no_errors	ENST00000493481	ensembl	human	known	74_37	rna	48.00	13	12	SNP	1.000	G
NOD2	64127	genome.wustl.edu	37	16	50745137	50745137	+	Missense_Mutation	SNP	C	C	T	rs375201229		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:50745137C>T	ENST00000300589.2	+	4	1420	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAAGTACATCCGCACCGAGTT	0.622																																																	0								C	CYS/ARG	0,4396		0,0,2198	54.0	58.0	56.0		1315	3.2	0.0	16		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOD2	NM_022162.1	180	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	439/1041	50745137	1,12995	2198	4300	6498	SO:0001583	missense	0			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1315C>T	16.37:g.50745137C>T	ENSP00000300589:p.Arg439Cys		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.R439C	ENST00000300589.2	37	c.1315	CCDS10746.1	16	.	.	.	.	.	.	.	.	.	.	C	7.462	0.644800	0.14451	0.0	1.16E-4	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.79033	-1.23	5.26	3.25	0.37280	.	0.304254	0.28871	N	0.013868	T	0.72867	0.3514	M	0.65975	2.015	0.39682	D	0.97091	B;B;B	0.21606	0.05;0.058;0.046	B;B;B	0.21151	0.02;0.033;0.027	T	0.68880	-0.5292	10	0.54805	T	0.06	.	8.3773	0.32451	0.0:0.792:0.0:0.208	.	223;412;439	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	C	412;439	ENSP00000300589:R439C	ENSP00000300589:R439C	R	+	1	0	NOD2	49302638	0.028000	0.19301	0.001000	0.08648	0.212000	0.24457	0.734000	0.26101	0.562000	0.29204	0.561000	0.74099	CGC	NOD2	-	superfamily_P-loop_NTPase	ENSG00000167207		0.622	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	-	0.00	17	0	C	NM_022162		50745137	+1	tier1	-	no_errors	ENST00000300589	ensembl	human	known	74_37	missense	36.67	19	11	SNP	0.493	T
NOLC1	9221	genome.wustl.edu	37	10	103919299	103919299	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:103919299delA	ENST00000605788.1	+	7	1068	c.833delA	c.(832-834)caafs	p.Q278fs	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Frame_Shift_Del_p.Q279fs|NOLC1_ENST00000405356.1_Frame_Shift_Del_p.Q288fs	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	278	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GAAGAGGAGCAAAAAAAACCC	0.527																																																	0													100.0	111.0	107.0					10																	103919299		2203	4300	6503	SO:0001589	frameshift_variant	0			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.833delA	10.37:g.103919299delA	ENSP00000474710:p.Gln278fs		Q15030|Q5VV70|Q9BUV3	Frame_Shift_Del	DEL	pfam_SRP40_C,pfscan_LisH_dimerisation	p.K290fs	ENST00000605788.1	37	c.863	CCDS7530.1	10																																																																																			NOLC1	-	NULL	ENSG00000166197		0.527	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOLC1	HGNC	protein_coding	OTTHUMT00000050012.2		0.00	28	0	A	NM_004741		103919299	+1	tier1		no_errors	ENST00000405356	ensembl	human	known	74_37	frame_shift_del	33.33	18	9	DEL	0.998	-
NOS3	4846	genome.wustl.edu	37	7	150707781	150707783	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:150707781_150707783delCTC	ENST00000297494.3	+	22	3139_3141	c.2782_2784delCTC	c.(2782-2784)ctcdel	p.L929del	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000494791.1_5'Flank|NOS3_ENST00000461406.1_In_Frame_Del_p.L723del	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCCCCACTGCTCCTCACCCAGC	0.66																																																	0																																										SO:0001651	inframe_deletion	0				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2782_2784delCTC	7.37:g.150707784_150707786delCTC	ENSP00000297494:p.Leu929del		Q495E5	In_Frame_Del	DEL	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L929in_frame_del	ENST00000297494.3	37	c.2782_2784	CCDS5912.1	7																																																																																			NOS3	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk	ENSG00000164867		0.660	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2		0.00	26	0	CTC	NM_000603		150707783	+1	tier1		no_errors	ENST00000297494	ensembl	human	known	74_37	in_frame_del	19.77	69	17	DEL	1.000:1.000:1.000	-
NOTCH1	4851	genome.wustl.edu	37	9	139399786	139399789	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CAGT	CAGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:139399786_139399789delCAGT	ENST00000277541.6	-	25	4634_4637	c.4559_4562delACTG	c.(4558-4563)gactgcfs	p.DC1520fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1520					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCACGCTGGCAGTCAAAGCCGTC	0.623			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0																																										SO:0001589	frameshift_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4559_4562delACTG	9.37:g.139399786_139399789delCAGT	ENSP00000277541:p.Asp1520fs		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.D1520fs	ENST00000277541.6	37	c.4562_4559	CCDS43905.1	9																																																																																			NOTCH1	-	superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom,prints_Notch_dom	ENSG00000148400		0.623	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0.00	18	0	CAGT	NM_017617		139399789	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_del	44.74	21	17	DEL	1.000:1.000:1.000:1.000	-
NOTCH1	4851	genome.wustl.edu	37	9	139401189	139401189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:139401189C>A	ENST00000277541.6	-	23	3955	c.3880G>T	c.(3880-3882)Gag>Tag	p.E1294*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1294	EGF-like 33. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACGGCACTCGCAGTGGAAG	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													23.0	30.0	27.0					9																	139401189		2112	4219	6331	SO:0001587	stop_gained	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3880G>T	9.37:g.139401189C>A	ENSP00000277541:p.Glu1294*		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.E1294*	ENST00000277541.6	37	c.3880	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	44	11.198514	0.99529	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.14	5.14	0.70334	.	0.053999	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	17.6036	0.88032	0.0:1.0:0.0:0.0	.	.	.	.	X	1294	.	ENSP00000277541:E1294X	E	-	1	0	NOTCH1	138521010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.608000	0.67654	2.397000	0.81536	0.655000	0.94253	GAG	NOTCH1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0.00	37	0	C	NM_017617		139401189	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	nonsense	84.71	13	72	SNP	1.000	A
NPAS2	4862	genome.wustl.edu	37	2	101598834	101598834	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:101598834G>A	ENST00000335681.5	+	16	1909	c.1624G>A	c.(1624-1626)Gtc>Atc	p.V542I	NPAS2_ENST00000542504.1_Missense_Mutation_p.V607I	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	542					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGACTCCAACGTCCAGGTGAT	0.642																																																	0													54.0	46.0	49.0					2																	101598834		2203	4300	6503	SO:0001583	missense	0			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1624G>A	2.37:g.101598834G>A	ENSP00000338283:p.Val542Ile		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.V607I	ENST00000335681.5	37	c.1819	CCDS2048.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.41|12.41	1.930227|1.930227	0.34096|0.34096	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000433408|ENST00000335681;ENST00000542504;ENST00000450763	.|T;T;T	.|0.29397	.|3.58;3.55;1.57	5.56|5.56	-0.207|-0.207	0.13189|0.13189	.|.	.|0.988073	.|0.08257	.|N	.|0.973585	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.31207|0.31207	0.915|0.915	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.14012	.|0.009;0.0;0.003	.|B;B;B	.|0.09377	.|0.004;0.001;0.001	T|T	0.28933|0.28933	-1.0028|-1.0028	5|10	.|0.48119	.|T	.|0.1	.|.	6.7676|6.7676	0.23576|0.23576	0.4598:0.1286:0.4116:0.0|0.4598:0.1286:0.4116:0.0	.|.	.|607;542;542	.|F5H027;A0PJF9;Q99743	.|.;.;NPAS2_HUMAN	H|I	40|542;607;141	.|ENSP00000338283:V542I;ENSP00000438428:V607I;ENSP00000392125:V141I	.|ENSP00000338283:V542I	R|V	+|+	2|1	0|0	NPAS2|NPAS2	100965266|100965266	0.000000|0.000000	0.05858|0.05858	0.567000|0.567000	0.28434|0.28434	0.953000|0.953000	0.61014|0.61014	-0.490000|-0.490000	0.06482|0.06482	0.200000|0.200000	0.20447|0.20447	0.655000|0.655000	0.94253|0.94253	CGT|GTC	NPAS2	-	NULL	ENSG00000170485		0.642	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	-	0.00	24	0	G			101598834	+1	tier1	-	no_errors	ENST00000542504	ensembl	human	known	74_37	missense	45.95	20	17	SNP	0.062	A
NPHP1	4867	genome.wustl.edu	37	2	110882862	110882862	+	Intron	DEL	T	T	-	rs112428035		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:110882862delT	ENST00000393272.3	-	19	2024				NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000417665.1_Frame_Shift_Del_p.K599fs|NPHP1_ENST00000316534.4_Intron|NPHP1_ENST00000355301.4_Intron|AC013268.1_ENST00000390802.1_RNA	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)						actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GCTCAGGCCATTTTTTTTTCC	0.353																																																	0																																										SO:0001627	intron_variant	0			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1926+351A>-	2.37:g.110882862delT			O14837	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.K599fs	ENST00000393272.3	37	c.1797	CCDS46385.1	2																																																																																			NPHP1	-	NULL	ENSG00000144061		0.353	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3		0.00	96	0	T	NM_000272		110882862	-1	tier1		no_errors	ENST00000417665	ensembl	human	novel	74_37	frame_shift_del	38.36	98	61	DEL	0.000	-
NRIP2	83714	genome.wustl.edu	37	12	2943918	2943918	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:2943918G>T	ENST00000337508.4	-	1	272	c.232C>A	c.(232-234)Cac>Aac	p.H78N		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	78					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGGCTCAGGTGGGCTCGGTCT	0.667																																																	0													112.0	112.0	112.0					12																	2943918		2203	4300	6503	SO:0001583	missense	0			AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.232C>A	12.37:g.2943918G>T	ENSP00000337501:p.His78Asn		A2RRE3|B4DV61	Missense_Mutation	SNP	pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom	p.H78N	ENST00000337508.4	37	c.232	CCDS8514.1	12	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842647	0.16963	.	.	ENSG00000053702	ENST00000337508;ENST00000546074;ENST00000542990;ENST00000542386	.	.	.	4.06	3.12	0.35913	.	1.196890	0.05839	N	0.618919	T	0.30198	0.0757	L	0.29908	0.895	0.25992	N	0.982233	B	0.27068	0.167	B	0.23275	0.045	T	0.12091	-1.0561	9	0.13853	T	0.58	-0.5596	9.2186	0.37362	0.0:0.0:0.6392:0.3608	.	78	Q9BQI9	NRIP2_HUMAN	N	78;78;28;28	.	ENSP00000337501:H78N	H	-	1	0	NRIP2	2814179	0.743000	0.28239	0.999000	0.59377	0.976000	0.68499	0.760000	0.26475	2.115000	0.64714	0.484000	0.47621	CAC	NRIP2	-	NULL	ENSG00000053702		0.667	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRIP2	HGNC	protein_coding	OTTHUMT00000253090.4	-	0.00	49	0	G	NM_031474		2943918	-1	tier1	-	no_errors	ENST00000337508	ensembl	human	known	74_37	missense	36.75	74	43	SNP	0.994	T
NRXN3	9369	genome.wustl.edu	37	14	79270068	79270068	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:79270068G>A	ENST00000554719.1	+	6	1522	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	NRXN3_ENST00000335750.5_Missense_Mutation_p.R344Q	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	121					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATGTCCCAGCGAGCTTATGGG	0.552																																																	0													180.0	132.0	148.0					14																	79270068		2203	4300	6503	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1031G>A	14.37:g.79270068G>A	ENSP00000451648:p.Arg344Gln		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.R715Q	ENST00000554719.1	37	c.2144	CCDS9870.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.683423	0.96774	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.77750	-1.12;-1.12	6.17	6.17	0.99709	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	D	0.89076	0.6612	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.87318	0.2316	8	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	717;344	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	Q	717;715;344;344	ENSP00000451648:R344Q;ENSP00000338349:R344Q	.	R	+	2	0	NRXN3	78339821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGA	NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.552	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	-	0.00	44	0	G	NM_001105250		79270068	+1	tier1	-	no_errors	ENST00000554738	ensembl	human	known	74_37	missense	79.12	19	72	SNP	1.000	A
NT5DC3	51559	genome.wustl.edu	37	12	104187260	104187260	+	Missense_Mutation	SNP	C	C	T	rs200566738		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:104187260C>T	ENST00000392876.3	-	8	885	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	282						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CAACACTGCGCGGGTCTGCTC	0.423																																																	0								C	HIS/ARG	0,4406		0,0,2203	90.0	82.0	85.0		845	6.0	0.9	12		85	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NT5DC3	NM_001031701.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	282/549	104187260	1,13005	2203	4300	6503	SO:0001583	missense	0			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.845G>A	12.37:g.104187260C>T	ENSP00000376615:p.Arg282His		Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.R282H	ENST00000392876.3	37	c.845	CCDS41824.1	12	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871216	0.33069	0.0	1.16E-4	ENSG00000111696	ENST00000392876	T	0.23147	1.92	5.99	5.99	0.97316	HAD-like domain (2);	0.095252	0.85682	D	0.000000	T	0.10852	0.0265	N	0.02357	-0.585	0.48901	D	0.999721	B	0.18610	0.029	B	0.15484	0.013	T	0.30736	-0.9968	10	0.14656	T	0.56	-15.4371	13.6422	0.62257	0.0:0.9298:0.0:0.0702	.	282	Q86UY8	NT5D3_HUMAN	H	282	ENSP00000376615:R282H	ENSP00000376615:R282H	R	-	2	0	NT5DC3	102711390	1.000000	0.71417	0.920000	0.36463	0.779000	0.44077	4.914000	0.63348	2.840000	0.97914	0.655000	0.94253	CGC	NT5DC3	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	ENSG00000111696		0.423	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC3	HGNC	protein_coding	OTTHUMT00000347118.2	-	0.00	29	0	C	NM_016575		104187260	-1	tier1	rs200566738	no_errors	ENST00000392876	ensembl	human	known	74_37	missense	22.64	41	12	SNP	0.997	T
NTAN1	123803	genome.wustl.edu	37	16	15132457	15132457	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:15132457G>A	ENST00000287706.3	-	9	819	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	243					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)			endometrium(1)|large_intestine(4)|lung(3)	8						TCATCTTGGTGCAACCAGAAA	0.418																																																	0													142.0	129.0	133.0					16																	15132457		2197	4300	6497	SO:0001583	missense	0			AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.727C>T	16.37:g.15132457G>A	ENSP00000287706:p.His243Tyr		Q7Z4Z0	Missense_Mutation	SNP	NULL	p.H243Y	ENST00000287706.3	37	c.727	CCDS10558.1	16	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857018	0.51376	.	.	ENSG00000157045	ENST00000287706	T	0.29397	1.57	6.17	6.17	0.99709	.	0.390573	0.29579	N	0.011741	T	0.19005	0.0456	N	0.08118	0	0.20873	N	0.999831	B	0.02656	0.0	B	0.04013	0.001	T	0.19289	-1.0310	10	0.59425	D	0.04	-20.5954	14.5801	0.68282	0.0:0.2384:0.7616:0.0	.	243	Q96AB6	NTAN1_HUMAN	Y	243	ENSP00000287706:H243Y	ENSP00000287706:H243Y	H	-	1	0	NTAN1	15039958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.554000	0.36266	2.941000	0.99782	0.655000	0.94253	CAC	NTAN1	-	NULL	ENSG00000157045		0.418	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTAN1	HGNC	protein_coding	OTTHUMT00000252089.1	-	0.00	56	0	G	NM_173474		15132457	-1	tier1	-	no_errors	ENST00000287706	ensembl	human	known	74_37	missense	27.27	56	21	SNP	1.000	A
NTM	50863	genome.wustl.edu	37	11	132205624	132205625	+	3'UTR	DEL	TT	TT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:132205624_132205625delTT	ENST00000374786.1	+	0	2098_2099				NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ACCGTTAAACTTTTTTTTTTTT	0.292																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.*585TT>-	11.37:g.132205634_132205635delTT			A0MTT2|Q6UXJ3|Q86VJ9	RNA	DEL	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			NTM	-	-	ENSG00000182667		0.292	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1		0.00	23	0	TT	NM_016522		132205625	+1	tier1		no_errors	ENST00000474900	ensembl	human	known	74_37	rna	50.00	6	6	DEL	0.000:0.011	-
NTM	50863	genome.wustl.edu	37	11	132206082	132206083	+	3'UTR	INS	-	-	T	rs544911002	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:132206082_132206083insT	ENST00000374786.1	+	0	2556_2557				NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ATATACATATATTTTTTTTGTT	0.356																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.*1043->T	11.37:g.132206090_132206090dupT			A0MTT2|Q6UXJ3|Q86VJ9	RNA	INS	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			NTM	-	-	ENSG00000182667		0.356	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1		0.00	24	0	-	NM_016522		132206083	+1	tier1		no_errors	ENST00000474900	ensembl	human	known	74_37	rna	33.33	20	10	INS	0.998:0.998	T
NTM	50863	genome.wustl.edu	37	11	132206566	132206567	+	3'UTR	DEL	TT	TT	-	rs61142048|rs368958484	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:132206566_132206567delTT	ENST00000374786.1	+	0	3040_3041				NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTAGGTAATCTTTTTTTTTTTT	0.46																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.*1527TT>-	11.37:g.132206576_132206577delTT			A0MTT2|Q6UXJ3|Q86VJ9	RNA	DEL	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			NTM	-	-	ENSG00000182667		0.460	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1		0.00	13	0	TT	NM_016522		132206567	+1	tier1		no_errors	ENST00000474900	ensembl	human	known	74_37	rna	31.58	13	6	DEL	0.131:0.164	-
NUDCD3	23386	genome.wustl.edu	37	7	44432048	44432048	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:44432048C>T	ENST00000355451.7	-	5	1102	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	275	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TCCAGGATGGCGTTCCACCAA	0.587																																																	0													218.0	188.0	198.0					7																	44432048		2203	4300	6503	SO:0001583	missense	0			BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.823G>A	7.37:g.44432048C>T	ENSP00000347626:p.Ala275Thr		Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.A275T	ENST00000355451.7	37	c.823	CCDS5490.2	7	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493204	0.84962	.	.	ENSG00000015676	ENST00000355451;ENST00000338427	T	0.42900	0.96	4.91	4.91	0.64330	CS-like domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.48642	1.525	0.80722	D	1	B	0.32939	0.391	B	0.33196	0.159	T	0.17048	-1.0382	10	0.28530	T	0.3	-12.5738	18.233	0.89939	0.0:1.0:0.0:0.0	.	275	Q8IVD9	NUDC3_HUMAN	T	275;31	ENSP00000347626:A275T	ENSP00000345922:A31T	A	-	1	0	NUDCD3	44398573	1.000000	0.71417	0.986000	0.45419	0.920000	0.55202	7.358000	0.79466	2.706000	0.92434	0.655000	0.94253	GCC	NUDCD3	-	superfamily_HSP20-like_chaperone,pfscan_CS_dom	ENSG00000015676		0.587	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD3	HGNC	protein_coding	OTTHUMT00000251248.3	-	0.00	56	0	C	NM_015332		44432048	-1	tier1	-	no_errors	ENST00000355451	ensembl	human	known	74_37	missense	26.55	83	30	SNP	1.000	T
NUFIP1	26747	genome.wustl.edu	37	13	45556208	45556208	+	Splice_Site	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:45556208delT	ENST00000379161.4	-	2	540	c.494delA	c.(493-495)aag>ag	p.K166fs	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	166					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TTCAAATACCTTTTTTTTCTG	0.328																																																	0										19,4241		8,3,2119	94.0	93.0	93.0			5.1	1.0	13		94	29,8223		12,5,4109	no	frameshift-near-splice	NUFIP1	NM_012345.2		20,8,6228	A1A1,A1R,RR		0.3514,0.446,0.3836			45556208	48,12464	2201	4299	6500	SO:0001630	splice_region_variant	0			AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.495+1A>-	13.37:g.45556208delT			Q8WVM5|Q96SG1	Frame_Shift_Del	DEL	pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K165fs	ENST00000379161.4	37	c.494	CCDS9393.1	13																																																																																			NUFIP1	-	NULL	ENSG00000083635		0.328	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP1	HGNC	protein_coding	OTTHUMT00000044755.2		0.00	42	0	T	NM_012345	Frame_Shift_Del	45556208	-1	tier1		no_errors	ENST00000379161	ensembl	human	known	74_37	frame_shift_del	20.34	47	12	DEL	1.000	-
NUP35	129401	genome.wustl.edu	37	2	184023093	184023093	+	Frame_Shift_Del	DEL	T	T	-	rs201358343		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:184023093delT	ENST00000295119.4	+	7	795	c.692delT	c.(691-693)attfs	p.I231fs	NUP35_ENST00000541912.1_Frame_Shift_Del_p.I96fs|NUP35_ENST00000409798.1_Frame_Shift_Del_p.I214fs	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	231	RRM Nup35-type. {ECO:0000255|PROSITE- ProRule:PRU00804}.				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)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						GATGGGAGGATTTTTGGAGAA	0.363																																																	0													96.0	94.0	95.0					2																	184023093		2203	4300	6503	SO:0001589	frameshift_variant	0			AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.692delT	2.37:g.184023093delT	ENSP00000295119:p.Ile231fs		B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Frame_Shift_Del	DEL	pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53	p.F232fs	ENST00000295119.4	37	c.692	CCDS2290.1	2																																																																																			NUP35	-	pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53	ENSG00000163002		0.363	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP35	HGNC	protein_coding	OTTHUMT00000255865.1		0.00	32	0	T	NM_138285		184023093	+1	tier1		no_errors	ENST00000295119	ensembl	human	known	74_37	frame_shift_del	13.48	77	12	DEL	1.000	-
NUP35	129401	genome.wustl.edu	37	2	184025805	184025805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:184025805delA	ENST00000295119.4	+	9	1030	c.927delA	c.(925-927)ccafs	p.P309fs	NUP35_ENST00000541912.1_Frame_Shift_Del_p.P174fs|NUP35_ENST00000409798.1_Frame_Shift_Del_p.P292fs	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	309					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)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						GACAAACGCCAAAAAAAGATG	0.363																																																	0													81.0	76.0	77.0					2																	184025805		2203	4300	6503	SO:0001589	frameshift_variant	0			AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.927delA	2.37:g.184025805delA	ENSP00000295119:p.Pro309fs		B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Frame_Shift_Del	DEL	pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53	p.D312fs	ENST00000295119.4	37	c.927	CCDS2290.1	2																																																																																			NUP35	-	pirsf_Nucleoporin_NUP53	ENSG00000163002		0.363	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP35	HGNC	protein_coding	OTTHUMT00000255865.1		0.00	19	0	A	NM_138285		184025805	+1	tier1		no_errors	ENST00000295119	ensembl	human	known	74_37	frame_shift_del	17.39	19	4	DEL	0.996	-
OBSCN	84033	genome.wustl.edu	37	1	228496835	228496835	+	Missense_Mutation	SNP	G	G	A	rs560506912		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:228496835G>A	ENST00000422127.1	+	48	12819	c.12775G>A	c.(12775-12777)Gtg>Atg	p.V4259M	OBSCN_ENST00000284548.11_Missense_Mutation_p.V4259M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V5216M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V1893M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V1378M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4259	Ig-like 44.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGCAGGACGTGCAGCTCAG	0.657																																																	0													17.0	19.0	18.0					1																	228496835		2018	4194	6212	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12775G>A	1.37:g.228496835G>A	ENSP00000409493:p.Val4259Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V4259M	ENST00000422127.1	37	c.12775	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213805	0.58452	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.27	-1.47	0.08772	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.496040	0.04184	N	0.327093	T	0.71921	0.3397	L	0.39633	1.23	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.66847	0.947;0.849	T	0.57069	-0.7874	10	0.33940	T	0.23	.	1.2769	0.02032	0.3288:0.1384:0.3908:0.1421	.	4259;4259	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	4259;4259;1893;1378	ENSP00000284548:V4259M;ENSP00000409493:V4259M;ENSP00000355668:V1893M;ENSP00000355670:V1378M	ENSP00000284548:V4259M	V	+	1	0	OBSCN	226563458	0.000000	0.05858	0.001000	0.08648	0.545000	0.35147	-0.133000	0.10451	-0.475000	0.06852	0.561000	0.74099	GTG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000154358		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0.00	23	0	G	NM_052843		228496835	+1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.002	A
OLFML2A	169611	genome.wustl.edu	37	9	127563354	127563354	+	Intron	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:127563354G>T	ENST00000373580.3	+	5	669				OLFML2A_ENST00000288815.5_Splice_Site	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A						extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GGCTGGGAAGGTGAGCAGGTG	0.577																																																	0													102.0	101.0	101.0					9																	127563354		692	1591	2283	SO:0001627	intron_variant	0			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.670-339G>T	9.37:g.127563354G>T			Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Splice_Site	SNP	-	e1+1	ENST00000373580.3	37	c.27+1	CCDS6857.2	9	.	.	.	.	.	.	.	.	.	.	G	1.820	-0.472517	0.04445	.	.	ENSG00000185585	ENST00000288815	.	.	.	2.57	-0.398	0.12418	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.0029	0.06019	0.0:0.4486:0.2477:0.3037	.	.	.	.	.	-1	.	.	.	+	.	.	OLFML2A	126603175	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.156000	0.03160	-0.093000	0.12396	-0.688000	0.03733	.	OLFML2A	-	-	ENSG00000185585		0.577	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML2A	HGNC	protein_coding	OTTHUMT00000054046.2	-	0.00	35	0	G	NM_182487		127563354	+1	tier1	-	no_errors	ENST00000288815	ensembl	human	known	74_37	splice_site	6.90	54	4	SNP	0.000	T
OR10A2	341276	genome.wustl.edu	37	11	6891852	6891852	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:6891852C>G	ENST00000307322.4	+	1	929	c.867C>G	c.(865-867)agC>agG	p.S289R		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGCCCTCAGCAGGACGGTCT	0.458																																																	0													92.0	89.0	90.0					11																	6891852		2201	4296	6497	SO:0001583	missense	0			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.867C>G	11.37:g.6891852C>G	ENSP00000303862:p.Ser289Arg		B2RNL9|Q6IFG9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S289R	ENST00000307322.4	37	c.867	CCDS31415.1	11	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.651027	0.00785	.	.	ENSG00000170790	ENST00000307322	T	0.33654	1.4	4.18	1.27	0.21489	.	1.182530	0.05828	N	0.616972	T	0.10252	0.0251	N	0.01076	-1.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34800	-0.9814	10	0.02654	T	1	.	3.7404	0.08527	0.0:0.5019:0.1855:0.3126	.	289	Q9H208	O10A2_HUMAN	R	289	ENSP00000303862:S289R	ENSP00000303862:S289R	S	+	3	2	OR10A2	6848428	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.531000	0.06171	0.545000	0.28902	-0.141000	0.14075	AGC	OR10A2	-	NULL	ENSG00000170790		0.458	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A2	HGNC	protein_coding	OTTHUMT00000385984.1	-	0.00	42	0	C	NM_001004460		6891852	+1	tier1	-	no_errors	ENST00000307322	ensembl	human	known	74_37	missense	27.78	39	15	SNP	0.000	G
OR13G1	441933	genome.wustl.edu	37	1	247836052	247836052	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:247836052G>C	ENST00000359688.2	-	1	313	c.292C>G	c.(292-294)Ctc>Gtc	p.L98V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AACAAGAAGAGCTGGGACATG	0.473																																																	0													82.0	67.0	72.0					1																	247836052		2203	4300	6503	SO:0001583	missense	0			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.292C>G	1.37:g.247836052G>C	ENSP00000352717:p.Leu98Val		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L98V	ENST00000359688.2	37	c.292	CCDS31094.1	1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539694	0.27563	.	.	ENSG00000197437	ENST00000359688	T	0.00414	7.52	4.2	-1.74	0.08056	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001348	T	0.00328	0.0010	L	0.47190	1.495	0.09310	N	1	P	0.36125	0.538	P	0.44897	0.463	T	0.49234	-0.8961	10	0.54805	T	0.06	-36.799	1.2693	0.02017	0.1742:0.1398:0.2582:0.4278	.	98	Q8NGZ3	O13G1_HUMAN	V	98	ENSP00000352717:L98V	ENSP00000352717:L98V	L	-	1	0	OR13G1	245902675	0.000000	0.05858	0.023000	0.16930	0.842000	0.47809	-0.360000	0.07622	-0.433000	0.07286	0.563000	0.77884	CTC	OR13G1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197437		0.473	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13G1	HGNC	protein_coding	OTTHUMT00000096869.1	-	0.00	34	0	G	NM_001005487		247836052	-1	tier1	-	no_errors	ENST00000359688	ensembl	human	known	74_37	missense	17.31	43	9	SNP	0.058	C
OR2F1	26211	genome.wustl.edu	37	7	143657236	143657236	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:143657236C>T	ENST00000392899.1	+	1	210	c.173C>T	c.(172-174)cCc>cTc	p.P58L	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	58					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CTCCACACTCCCATGTATTTC	0.502																																																	0													280.0	265.0	270.0					7																	143657236		2203	4297	6500	SO:0001583	missense	0			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.173C>T	7.37:g.143657236C>T	ENSP00000376633:p.Pro58Leu		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P58L	ENST00000392899.1	37	c.173	CCDS5887.1	7	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003878	0.93287	.	.	ENSG00000213215	ENST00000392899	T	0.02032	4.49	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.22360	0.0539	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.08027	-1.0742	10	0.87932	D	0	-45.0756	17.2626	0.87075	0.0:1.0:0.0:0.0	.	58	Q13607	OR2F1_HUMAN	L	58	ENSP00000376633:P58L	ENSP00000376633:P58L	P	+	2	0	OR2F1	143288169	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.519000	0.81809	2.941000	0.99782	0.655000	0.94253	CCC	OR2F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000213215		0.502	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F1	HGNC	protein_coding	OTTHUMT00000349581.1	-	0.00	103	0	C			143657236	+1	tier1	-	no_errors	ENST00000392899	ensembl	human	known	74_37	missense	38.69	122	77	SNP	1.000	T
OR2J1	442185	genome.wustl.edu	37	6	29068729	29068729	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:29068729delA	ENST00000377171.3	+	1	344	c.10delA	c.(10-12)aaafs	p.K5fs				Q9GZK6	OR2J1_HUMAN	olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|lung(6)	7						AATGTTGATGAAAAAAAATGC	0.358																																																	0																																										SO:0001589	frameshift_variant	0					6p22.2-p21.31	2012-08-09	2011-08-30	2004-05-28	ENSG00000204702	ENSG00000204702		"""GPCR / Class A : Olfactory receptors"""	8259	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily J, member 1 pseudogene"", ""olfactory receptor, family 2, subfamily J, member 1"""	OR2J1P			Standard	NG_004683		Approved	OR6-5, hs6M1-4, dJ80I19.2		Q9GZK6	OTTHUMG00000031280	ENST00000377171.3:c.10delA	6.37:g.29068729delA	ENSP00000366376:p.Lys5fs		A2AAS1|B0V1T2|Q9GZK1	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.N6fs	ENST00000377171.3	37	c.10		6																																																																																			OR2J1	-	NULL	ENSG00000204702		0.358	OR2J1-001	KNOWN	basic|appris_principal	protein_coding	OR2J1	HGNC	protein_coding	OTTHUMT00000076612.2		0.00	42	0	A	NG_004683		29068729	+1	tier1		no_errors	ENST00000377171	ensembl	human	known	74_37	frame_shift_del	17.07	34	7	DEL	0.000	-
OR4A47	403253	genome.wustl.edu	37	11	48510904	48510904	+	Missense_Mutation	SNP	G	G	A	rs572867266		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:48510904G>A	ENST00000446524.1	+	1	636	c.560G>A	c.(559-561)tGc>tAc	p.C187Y		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AAACTGGTCTGCACTGACACC	0.433																																																	0													161.0	154.0	157.0					11																	48510904		2201	4298	6499	SO:0001583	missense	0			BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.560G>A	11.37:g.48510904G>A	ENSP00000412752:p.Cys187Tyr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C187Y	ENST00000446524.1	37	c.560	CCDS31490.1	11	.	.	.	.	.	.	.	.	.	.	N	11.83	1.756844	0.31137	.	.	ENSG00000237388	ENST00000446524	T	0.00462	7.26	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.03053	0.0090	H	0.98218	4.175	0.42929	D	0.994315	D	0.89917	1.0	D	0.97110	1.0	T	0.03086	-1.1074	10	0.87932	D	0	.	14.873	0.70474	0.0:0.0:1.0:0.0	.	187	Q6IF82	O4A47_HUMAN	Y	187	ENSP00000412752:C187Y	ENSP00000412752:C187Y	C	+	2	0	OR4A47	48467480	1.000000	0.71417	0.442000	0.26870	0.093000	0.18481	6.051000	0.71072	2.082000	0.62665	0.205000	0.17691	TGC	OR4A47	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000237388		0.433	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	HGNC	protein_coding	OTTHUMT00000390559.1	-	0.00	56	0	G	NM_001005512		48510904	+1	tier1	-	no_errors	ENST00000446524	ensembl	human	known	74_37	missense	15.71	59	11	SNP	0.853	A
OR4C46	119749	genome.wustl.edu	37	11	51515970	51515970	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:51515970C>T	ENST00000328188.1	+	1	689	c.689C>T	c.(688-690)gCa>gTa	p.A230V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AGCTTGGAGGCAAGGCACAAA	0.483																																																	0													123.0	103.0	110.0					11																	51515970		2201	4296	6497	SO:0001583	missense	0				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.689C>T	11.37:g.51515970C>T	ENSP00000329056:p.Ala230Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A230V	ENST00000328188.1	37	c.689	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	3.509	-0.100227	0.06967	.	.	ENSG00000185926	ENST00000328188	T	0.00145	8.67	2.47	-3.38	0.04883	GPCR, rhodopsin-like superfamily (1);	0.342138	0.21433	N	0.074615	T	0.00109	0.0003	L	0.28014	0.82	0.09310	N	1	B	0.12630	0.006	B	0.23852	0.049	T	0.41520	-0.9504	10	0.87932	D	0	.	12.436	0.55600	0.0:0.5652:0.4348:0.0	.	230	A6NHA9	O4C46_HUMAN	V	230	ENSP00000329056:A230V	ENSP00000329056:A230V	A	+	2	0	OR4C46	51372546	0.236000	0.23804	0.000000	0.03702	0.029000	0.11900	0.708000	0.25719	-0.426000	0.07360	0.121000	0.15741	GCA	OR4C46	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000185926		0.483	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1	-	0.00	128	0	C	NM_001004703		51515970	+1	tier1	-	no_errors	ENST00000328188	ensembl	human	known	74_37	missense	11.69	136	18	SNP	0.000	T
OR52N5	390075	genome.wustl.edu	37	11	5799652	5799652	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:5799652delA	ENST00000317093.2	-	1	245	c.213delT	c.(211-213)tttfs	p.F71fs	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F71fs*59(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAGCATGGCCAAAAAAAAAAT	0.428																																																	1	Deletion - Frameshift(1)	ovary(1)								21,37,4048		0,0,21,1,35,1996	123.0	117.0	119.0			2.7	0.6	11		123	37,129,7678		1,0,35,6,117,3763	no	codingComplex	OR52N5	NM_001001922.2		1,0,56,7,152,5759	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1163,1.4126,1.8745			5799652	58,166,11726	2125	4088	6213	SO:0001589	frameshift_variant	0			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.213delT	11.37:g.5799652delA	ENSP00000322866:p.Phe71fs		B9EH12|Q6IFG2	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.F71fs	ENST00000317093.2	37	c.213	CCDS31397.1	11																																																																																			OR52N5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181009		0.428	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N5	HGNC	protein_coding	OTTHUMT00000401141.1		0.00	23	0	A	NM_001001922		5799652	-1	tier1		no_errors	ENST00000317093	ensembl	human	known	74_37	frame_shift_del	17.65	28	6	DEL	0.971	-
OR5P2	120065	genome.wustl.edu	37	11	7818170	7818171	+	Missense_Mutation	DNP	TC	TC	AA	rs569926953|rs147652902	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:7818170_7818171TC>AA	ENST00000329434.2	-	1	349_350	c.319_320GA>TT	c.(319-321)GAa>TTa	p.E107L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E107K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGGACGCATTCGACTGTTGCA	0.49																																																	1	Substitution - Missense(1)	ovary(1)																																								SO:0001583	missense	0			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.319_320delinsAA	11.37:g.7818170_7818171delinsAA	ENSP00000331823:p.Glu107Leu		Q3MIS8	Missense_Mutation|Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E107V|p.E107*	ENST00000329434.2	37	c.320|c.319	CCDS7782.1	11																																																																																			OR5P2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183303		0.490	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	HGNC	protein_coding	OTTHUMT00000385696.1	-	0.00	40|38	0	T|C	NM_153444		7818170|7818171	-1	tier1	-	no_errors	ENST00000329434	ensembl	human	known	74_37	missense|nonsense	38.18|37.50	34|35	21	SNP	0.999|0.921	A
OR4D5	219875	genome.wustl.edu	37	11	123810341	123810341	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:123810341T>C	ENST00000307033.2	+	1	92	c.18T>C	c.(16-18)caT>caC	p.H6H		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	6						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)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGCAAATCATTCCCAGGTGG	0.408																																																	0													86.0	86.0	86.0					11																	123810341		2202	4299	6501	SO:0001819	synonymous_variant	0			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.18T>C	11.37:g.123810341T>C			B9EGZ4|Q6IFE6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H6	ENST00000307033.2	37	c.18	CCDS31699.1	11																																																																																			OR4D5	-	NULL	ENSG00000171014		0.408	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	HGNC	protein_coding	OTTHUMT00000387263.1	-	0.00	66	0	T	NM_001001965		123810341	+1	tier1	-	no_errors	ENST00000307033	ensembl	human	known	74_37	silent	53.85	42	49	SNP	0.193	C
OR7D2	162998	genome.wustl.edu	37	19	9296772	9296773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:9296772_9296773insT	ENST00000344248.2	+	1	494_495	c.315_316insT	c.(316-318)tttfs	p.F106fs		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	106					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ATTTCTCCATGTTTTTTCCTAT	0.505																																																	0																																										SO:0001589	frameshift_variant	0			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.321dupT	19.37:g.9296778_9296778dupT	ENSP00000345563:p.Phe106fs		Q6IFJ7|Q8N133	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P107fs	ENST00000344248.2	37	c.315_316	CCDS32900.1	19																																																																																			OR7D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000188000		0.505	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1		0.00	84	0	-			9296773	+1	tier1		no_errors	ENST00000344248	ensembl	human	known	74_37	frame_shift_ins	36.84	60	35	INS	0.000:0.000	T
OR8D4	338662	genome.wustl.edu	37	11	123777442	123777442	+	Frame_Shift_Del	DEL	T	T	-	rs79561639|rs74740497		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:123777442delT	ENST00000321355.2	+	1	334	c.304delT	c.(304-306)tttfs	p.F104fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GATTCAGCTGTTTTTTTTCTG	0.438																																																	0													229.0	230.0	229.0					11																	123777442		2202	4299	6501	SO:0001589	frameshift_variant	0			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.304delT	11.37:g.123777442delT	ENSP00000325381:p.Phe104fs		Q6IFE9	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F104fs	ENST00000321355.2	37	c.304	CCDS31698.1	11																																																																																			OR8D4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181518		0.438	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D4	HGNC	protein_coding	OTTHUMT00000387262.1		0.00	87	0	T	NM_001005197		123777442	+1	tier1		no_errors	ENST00000321355	ensembl	human	known	74_37	frame_shift_del	20.56	85	22	DEL	0.939	-
OR8G1	26494	genome.wustl.edu	37	11	124120778	124120778	+	RNA	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:124120778C>T	ENST00000534473.2	+	0	356				OR8G1_ENST00000341493.2_RNA			Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		GCTGCAATGGCGTATGACCGT	0.448																																																	0													223.0	212.0	216.0					11																	124120778		2180	4288	6468			0			AB065946	CCDS73407.1	11q24.2	2013-01-23	2004-07-27	2005-05-16	ENSG00000197849	ENSG00000197849		"""GPCR / Class A : Olfactory receptors"""	8484	protein-coding gene	gene with protein product			"""olfactory receptor, family 8, subfamily G, member 1 pseudogene"""	OR8G1P		9119360	Standard	NR_045681		Approved	TPCR25, HSTPCR25	uc031qep.1	Q15617	OTTHUMG00000165974		11.37:g.124120778C>T			Q8NG88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A119V	ENST00000534473.2	37	c.356		11																																																																																			OR8G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197849		0.448	OR8G1-001	KNOWN	basic	polymorphic_pseudogene	OR8G1	HGNC	polymorphic_pseudogene	OTTHUMT00000387282.2	-	0.00	144	0	C	NM_001002905		124120778	+1	tier1	-	no_errors	ENST00000341493	ensembl	human	known	74_37	missense	23.03	136	41	SNP	1.000	T
OS9	10956	genome.wustl.edu	37	12	58112063	58112063	+	Silent	SNP	G	G	A	rs547241583		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:58112063G>A	ENST00000315970.7	+	11	1310	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	OS9_ENST00000413095.2_Silent_p.E217E|OS9_ENST00000439210.2_Silent_p.E364E|OS9_ENST00000257966.8_Silent_p.E424E|OS9_ENST00000435406.2_Silent_p.E371E|OS9_ENST00000389142.5_Silent_p.E423E|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Silent_p.E423E|OS9_ENST00000552285.1_Silent_p.E423E|OS9_ENST00000551035.1_Silent_p.E391E	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	423	Asp/Glu-rich (acidic).				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			atgaggatgaggatgaagatg	0.532																																																	0													244.0	205.0	218.0					12																	58112063		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1269G>A	12.37:g.58112063G>A			A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.E423	ENST00000315970.7	37	c.1269	CCDS31843.1	12																																																																																			OS9	-	NULL	ENSG00000135506		0.532	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1	-	0.00	20	0	G	NM_006812		58112063	+1	tier1	-	no_errors	ENST00000315970	ensembl	human	known	74_37	silent	56.14	25	32	SNP	0.976	A
OSGEPL1	64172	genome.wustl.edu	37	2	190626331	190626331	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:190626331delA	ENST00000264151.5	-	2	138	c.36delT	c.(34-36)tttfs	p.F12fs	OSGEPL1-AS1_ENST00000523895.1_RNA|OSGEPL1-AS1_ENST00000520651.1_RNA|OSGEPL1-AS1_ENST00000521819.1_RNA|RP11-455J20.3_ENST00000608680.1_RNA|OSGEPL1_ENST00000519810.1_Frame_Shift_Del_p.F12fs|OSGEPL1_ENST00000522700.1_Frame_Shift_Del_p.F12fs	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1									p.F12fs*12(1)		large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			TTGATGGTTTAAAAAAAACTC	0.269																																																	1	Deletion - Frameshift(1)	large_intestine(1)											21.0	21.0	21.0					2																	190626331		1787	4043	5830	SO:0001589	frameshift_variant	0			AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.36delT	2.37:g.190626331delA	ENSP00000264151:p.Phe12fs			Frame_Shift_Del	DEL	pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD	p.F12fs	ENST00000264151.5	37	c.36	CCDS46472.1	2																																																																																			OSGEPL1	-	NULL	ENSG00000128694		0.269	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSGEPL1	HGNC	protein_coding	OTTHUMT00000377257.1		0.00	26	0	A	NM_022353		190626331	-1	tier1		no_errors	ENST00000264151	ensembl	human	known	74_37	frame_shift_del	44.83	16	13	DEL	0.000	-
OTOF	9381	genome.wustl.edu	37	2	26684619	26684619	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:26684619C>T	ENST00000272371.2	-	43	5604	c.5478G>A	c.(5476-5478)gcG>gcA	p.A1826A	OTOF_ENST00000339598.3_Silent_p.A1059A|OTOF_ENST00000402415.3_Silent_p.A1136A|OTOF_ENST00000403946.3_Silent_p.A1826A|OTOF_ENST00000338581.6_Silent_p.A1059A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1826					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)					GGGTGAGCCGCGCGGGGATCT	0.602																																					GBM(102;732 1451 20652 24062 31372)												0													117.0	118.0	118.0					2																	26684619		2203	4300	6503	SO:0001819	synonymous_variant	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.5478G>A	2.37:g.26684619C>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A1826	ENST00000272371.2	37	c.5478	CCDS1725.1	2																																																																																			OTOF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000115155		0.602	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0.00	31	0	C			26684619	-1	tier1	-	no_errors	ENST00000272371	ensembl	human	known	74_37	silent	34.18	52	27	SNP	0.713	T
OTOP1	133060	genome.wustl.edu	37	4	4198967	4198967	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:4198967G>A	ENST00000296358.4	-	5	1618	c.1594C>T	c.(1594-1596)Cgt>Tgt	p.R532C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	532					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTAAGAAACGGGGAAGGCGG	0.502																																																	0													55.0	60.0	58.0					4																	4198967		2203	4300	6503	SO:0001583	missense	0			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1594C>T	4.37:g.4198967G>A	ENSP00000296358:p.Arg532Cys		A1L476	Missense_Mutation	SNP	pfam_Otopetrin	p.R532C	ENST00000296358.4	37	c.1594	CCDS3372.1	4	.	.	.	.	.	.	.	.	.	.	G	9.255	1.041664	0.19748	.	.	ENSG00000163982	ENST00000296358	T	0.08720	3.06	4.7	-0.711	0.11230	.	2.205680	0.01648	N	0.024402	T	0.03827	0.0108	N	0.03608	-0.345	0.09310	N	1	B	0.20052	0.041	B	0.12837	0.008	T	0.33497	-0.9866	10	0.37606	T	0.19	-2.3047	2.5008	0.04633	0.1639:0.4193:0.2169:0.1999	.	532	Q7RTM1	OTOP1_HUMAN	C	532	ENSP00000296358:R532C	ENSP00000296358:R532C	R	-	1	0	OTOP1	4249868	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.428000	0.06991	-0.090000	0.12462	0.508000	0.49915	CGT	OTOP1	-	NULL	ENSG00000163982		0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	-	0.00	34	0	G	NM_177998		4198967	-1	tier1	rs137867656	no_errors	ENST00000296358	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	A
PANK2	80025	genome.wustl.edu	37	20	3888689	3888689	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:3888689C>T	ENST00000316562.4	+	2	751	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	PANK2_ENST00000610179.1_Missense_Mutation_p.R126W|PANK2_ENST00000497424.1_5'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	249			R -> P (in NBIA1). {ECO:0000269|PubMed:12510040}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAAAAGCATTCGGAAGTACCT	0.483																																																	0													114.0	100.0	105.0					20																	3888689		2203	4300	6503	SO:0001583	missense	0			AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.745C>T	20.37:g.3888689C>T	ENSP00000313377:p.Arg249Trp		B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.R249W	ENST00000316562.4	37	c.745	CCDS13071.2	20	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080870	0.76528	.	.	ENSG00000125779	ENST00000316562;ENST00000399552	D	0.99571	-6.19	5.65	3.56	0.40772	.	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	M	0.87180	2.865	0.54753	D	0.999984	D	0.89917	1.0	D	0.77004	0.989	D	0.98027	1.0374	10	0.72032	D	0.01	.	12.7487	0.57296	0.3078:0.6922:0.0:0.0	.	249	Q9BZ23	PANK2_HUMAN	W	249;65	ENSP00000313377:R249W	ENSP00000313377:R249W	R	+	1	2	PANK2	3836689	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.046000	0.49846	1.584000	0.49913	0.655000	0.94253	CGG	PANK2	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000125779		0.483	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANK2	HGNC	protein_coding	OTTHUMT00000077793.2	-	0.00	27	0	C	NM_024960		3888689	+1	tier1	-	no_errors	ENST00000316562	ensembl	human	known	74_37	missense	30.23	29	13	SNP	1.000	T
PAPD5	64282	genome.wustl.edu	37	16	50263455	50263455	+	3'UTR	DEL	A	A	-	rs369429144		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:50263455delA	ENST00000561678.1	+	0	2057				PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000357464.3_3'UTR|PAPD5_ENST00000436909.3_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5						histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		aaaaagagggaaaaaaaaGGC	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.*216A>-	16.37:g.50263455delA			B4DV38|Q9NW67|Q9Y6C0	RNA	DEL	-	NULL	ENST00000561678.1	37	NULL		16																																																																																			PAPD5	-	-	ENSG00000121274		0.318	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	PAPD5	HGNC	protein_coding	OTTHUMT00000423150.1		0.00	19	0	A	NM_022447		50263455	+1	tier1		no_errors	ENST00000573002	ensembl	human	known	74_37	rna	50.00	21	21	DEL	0.002	-
PAPD7	11044	genome.wustl.edu	37	5	6755014	6755014	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:6755014C>A	ENST00000230859.6	+	13	1714	c.1585C>A	c.(1585-1587)Cac>Aac	p.H529N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAGGAAAAAACACACACACAC	0.657																																					NSCLC(7;212 333 5667 23379 46547)												0													29.0	31.0	30.0					5																	6755014		2202	4300	6502	SO:0001583	missense	0			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1585C>A	5.37:g.6755014C>A	ENSP00000230859:p.His529Asn		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.H529N	ENST00000230859.6	37	c.1585	CCDS3871.1	5	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940508	0.52972	.	.	ENSG00000112941	ENST00000230859	T	0.33216	1.42	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000017	T	0.16727	0.0402	N	0.19112	0.55	0.31730	N	0.637111	P;P	0.43826	0.818;0.818	B;B	0.32090	0.14;0.14	T	0.20806	-1.0264	10	0.72032	D	0.01	-12.2819	10.9635	0.47399	0.0:0.912:0.0:0.088	.	528;529	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	N	529	ENSP00000230859:H529N	ENSP00000230859:H529N	H	+	1	0	PAPD7	6808014	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.917000	0.48821	2.458000	0.83093	0.655000	0.94253	CAC	PAPD7	-	NULL	ENSG00000112941		0.657	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD7	HGNC	protein_coding	OTTHUMT00000206904.1		0.00	18	0	C	NM_006999		6755014	+1			no_errors	ENST00000230859	ensembl	human	known	74_37	missense	12.50	56	8	SNP	1.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176526097	176526097	+	Silent	SNP	C	C	T	rs371392086		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:176526097C>T	ENST00000367662.3	+	2	1803	c.639C>T	c.(637-639)tcC>tcT	p.S213S	PAPPA2_ENST00000367661.3_Silent_p.S213S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	213					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGGGAGACTCCGGTATCTCTT	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14145	0.0		0.0	False		,,,				2504	0.0																0								C	,	1,3983		0,1,1991	91.0	98.0	96.0		639,639	-5.1	0.0	1		96	0,8302		0,0,4151	no	coding-synonymous,coding-synonymous	PAPPA2	NM_020318.2,NM_021936.2	,	0,1,6142	TT,TC,CC		0.0,0.0251,0.0081	,	213/1792,213/828	176526097	1,12285	1992	4151	6143	SO:0001819	synonymous_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.639C>T	1.37:g.176526097C>T			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.S213	ENST00000367662.3	37	c.639	CCDS41438.1	1																																																																																			PAPPA2	-	superfamily_ConA-like_lec_gl_sf	ENSG00000116183		0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0.00	30	0	C			176526097	+1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	silent	34.38	21	11	SNP	0.000	T
PARP3	10039	genome.wustl.edu	37	3	51980259	51980259	+	Silent	SNP	C	C	T	rs370560805		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:51980259C>T	ENST00000417220.2	+	10	1664	c.1176C>T	c.(1174-1176)gcC>gcT	p.A392A	PARP3_ENST00000431474.1_Silent_p.A392A|PARP3_ENST00000398755.3_Silent_p.A399A			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	392	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGTGGTGGCCGCCATCCTCA	0.557																																																	0								C	,	1,4171		0,1,2085	81.0	84.0	83.0		1197,1176	-3.0	1.0	3		83	4,8392		0,4,4194	no	coding-synonymous,coding-synonymous	PARP3	NM_001003931.2,NM_005485.4	,	0,5,6279	TT,TC,CC		0.0476,0.024,0.0398	,	399/541,392/534	51980259	5,12563	2086	4198	6284	SO:0001819	synonymous_variant	0			AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.1176C>T	3.37:g.51980259C>T			Q8NER9|Q96CG2|Q9UG81	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.A399	ENST00000417220.2	37	c.1197	CCDS43097.1	3																																																																																			PARP3	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000041880		0.557	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	HGNC	protein_coding	OTTHUMT00000348612.2	-	0.00	16	0	C	NM_005485.4		51980259	+1	tier1	-	no_errors	ENST00000398755	ensembl	human	known	74_37	silent	41.18	10	7	SNP	0.894	T
PATL1	219988	genome.wustl.edu	37	11	59425146	59425146	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:59425146delG	ENST00000300146.9	-	5	562	c.478delC	c.(478-480)cagfs	p.Q160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601). {ECO:0000305}.	cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TCTGGACCCTGGGGGGGCCTC	0.453																																																	0													66.0	64.0	65.0					11																	59425146		1819	4079	5898	SO:0001589	frameshift_variant	0			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.478delC	11.37:g.59425146delG	ENSP00000300146:p.Gln160fs		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Frame_Shift_Del	DEL	pfam_Topo_II-assoc_PAT1	p.Q160fs	ENST00000300146.9	37	c.478	CCDS44613.1	11																																																																																			PATL1	-	pfam_Topo_II-assoc_PAT1	ENSG00000166889		0.453	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1		0.00	30	0	G	NM_152716		59425146	-1	tier1		no_errors	ENST00000300146	ensembl	human	known	74_37	frame_shift_del	31.71	28	13	DEL	0.999	-
PAXIP1	22976	genome.wustl.edu	37	7	154782740	154782740	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:154782740delA	ENST00000404141.1	-	4	454	c.300delT	c.(298-300)tttfs	p.F100fs	PAXIP1_ENST00000397192.1_Frame_Shift_Del_p.F100fs|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	100	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAGTGATTCCAAAAAAAATCT	0.333																																																	0										16,3500		0,16,1742	47.0	45.0	45.0			5.3	1.0	7		46	34,7762		0,34,3864	no	frameshift	PAXIP1	NM_007349.3		0,50,5606	A1A1,A1R,RR		0.4361,0.4551,0.442			154782740	50,11262	1817	4069	5886	SO:0001589	frameshift_variant	0			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.300delT	7.37:g.154782740delA	ENSP00000384048:p.Phe100fs		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Frame_Shift_Del	DEL	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.F100fs	ENST00000404141.1	37	c.300	CCDS47753.1	7																																																																																			PAXIP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000157212		0.333	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1		0.00	29	0	A	NM_007349		154782740	-1	tier1		no_errors	ENST00000397192	ensembl	human	known	74_37	frame_shift_del	14.29	36	6	DEL	1.000	-
PCDH11X	27328	genome.wustl.edu	37	X	91091004	91091004	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:91091004C>T	ENST00000373094.1	+	1	1346	c.501C>T	c.(499-501)gaC>gaT	p.D167D	PCDH11X_ENST00000504220.2_Silent_p.D167D|PCDH11X_ENST00000373097.1_Silent_p.D167D|PCDH11X_ENST00000361655.2_Silent_p.D167D|PCDH11X_ENST00000395337.2_Silent_p.D167D|PCDH11X_ENST00000373088.1_Silent_p.D167D|PCDH11X_ENST00000361724.1_Silent_p.D167D|PCDH11X_ENST00000406881.1_Silent_p.D167D|PCDH11X_ENST00000298274.8_Silent_p.D167D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	167	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTGATCCTGACGTAGGAATAA	0.338																																					NSCLC(38;925 1092 2571 38200 45895)												0													44.0	45.0	44.0					X																	91091004		2201	4298	6499	SO:0001819	synonymous_variant	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.501C>T	X.37:g.91091004C>T			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D167	ENST00000373094.1	37	c.501	CCDS14461.1	X																																																																																			PCDH11X	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000102290		0.338	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0.00	38	0	C	NM_032969		91091004	+1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	silent	80.00	9	36	SNP	0.250	T
PCDH17	27253	genome.wustl.edu	37	13	58206843	58206843	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:58206843G>A	ENST00000377918.3	+	1	189	c.163G>A	c.(163-165)Ggc>Agc	p.G55S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAGCGCGGCGGCGGAGGGCG	0.682																																					Melanoma(72;952 1291 1619 12849 33676)												0													21.0	23.0	23.0					13																	58206843		2203	4299	6502	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.163G>A	13.37:g.58206843G>A	ENSP00000367151:p.Gly55Ser		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G55S	ENST00000377918.3	37	c.163	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	8.501	0.864358	0.17250	.	.	ENSG00000118946	ENST00000377918	T	0.48522	0.81	5.49	3.38	0.38709	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.879913	0.10367	N	0.683283	T	0.29914	0.0748	N	0.22421	0.69	0.25289	N	0.989378	B;P	0.42871	0.041;0.792	B;B	0.34418	0.041;0.182	T	0.04203	-1.0969	9	.	.	.	.	9.4252	0.38574	0.2022:0.0:0.7978:0.0	.	55;55	O14917-2;O14917	.;PCD17_HUMAN	S	55	ENSP00000367151:G55S	.	G	+	1	0	PCDH17	57104844	1.000000	0.71417	0.994000	0.49952	0.866000	0.49608	4.359000	0.59449	0.627000	0.30340	0.655000	0.94253	GGC	PCDH17	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.682	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0.00	14	0	G	NM_001040429		58206843	+1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	75.00	2	6	SNP	0.986	A
PCDH20	64881	genome.wustl.edu	37	13	61986976	61986976	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:61986976A>G	ENST00000409186.1	-	5	3361	c.1256T>C	c.(1255-1257)gTt>gCt	p.V419A	PCDH20_ENST00000409204.4_Missense_Mutation_p.V419A			Q8N6Y1	PCD20_HUMAN	protocadherin 20	419	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCTGAAAATAACTTTAATAAT	0.458																																																	0													100.0	103.0	102.0					13																	61986976		2203	4300	6503	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1256T>C	13.37:g.61986976A>G	ENSP00000386653:p.Val419Ala		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V419A	ENST00000409186.1	37	c.1256	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	A	6.543	0.468522	0.12461	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.57752	0.38;0.38	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000029	T	0.58250	0.2109	M	0.84326	2.69	0.44611	D	0.997587	B	0.29716	0.255	B	0.27262	0.078	T	0.59627	-0.7419	10	0.44086	T	0.13	.	16.2937	0.82761	1.0:0.0:0.0:0.0	.	419	A8K1K9	.	A	419;419;165	ENSP00000387250:V419A;ENSP00000386653:V419A	ENSP00000351500:V165A	V	-	2	0	PCDH20	60884977	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	7.289000	0.78701	2.258000	0.74832	0.519000	0.50382	GTT	PCDH20	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197991		0.458	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	-	0.00	25	0	A	NM_022843		61986976	-1	tier1	-	no_errors	ENST00000409186	ensembl	human	known	74_37	missense	42.86	12	9	SNP	0.996	G
PCDHA2	56146	genome.wustl.edu	37	5	140176199	140176199	+	Silent	SNP	G	G	A	rs544759315		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140176199G>A	ENST00000526136.1	+	1	1650	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.T550T|PCDHA2_ENST00000378132.1_Silent_p.T550T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	550	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGACGCTGCAGGTGT	0.682													.|||	1	0.000199681	0.0	0.0014	5008	,	,		18005	0.0		0.0	False		,,,				2504	0.0																0													71.0	73.0	72.0					5																	140176199		2203	4295	6498	SO:0001819	synonymous_variant	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1650G>A	5.37:g.140176199G>A			O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T550	ENST00000526136.1	37	c.1650	CCDS54914.1	5																																																																																			PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204969		0.682	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	-	0.00	98	0	G	NM_018905		140176199	+1	tier1	-	no_errors	ENST00000526136	ensembl	human	known	74_37	silent	31.19	139	63	SNP	0.518	A
PCDHA13	56136	genome.wustl.edu	37	5	140262129	140262129	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140262129C>T	ENST00000289272.2	+	1	276	c.276C>T	c.(274-276)cgC>cgT	p.R92R	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.R92R|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587																																					Melanoma(147;1739 1852 5500 27947 37288)												0													121.0	133.0	129.0					5																	140262129		2203	4297	6500	SO:0001819	synonymous_variant	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.276C>T	5.37:g.140262129C>T			O75277	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R92	ENST00000289272.2	37	c.276	CCDS4240.1	5																																																																																			PCDHA13	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000239389		0.587	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0.00	58	0	C	NM_018904		140262129	+1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	silent	48.80	63	61	SNP	0.551	T
PCDHB3	56132	genome.wustl.edu	37	5	140480982	140480982	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140480982C>T	ENST00000231130.2	+	1	749	c.749C>T	c.(748-750)gCa>gTa	p.A250V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	250	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATGAGGTTGCAGTTCTAGAG	0.463																																																	0													68.0	74.0	72.0					5																	140480982		2203	4300	6503	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.749C>T	5.37:g.140480982C>T	ENSP00000231130:p.Ala250Val		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A250V	ENST00000231130.2	37	c.749	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	2.993	-0.207822	0.06180	.	.	ENSG00000113205	ENST00000231130	T	0.52295	0.67	4.93	3.78	0.43462	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26666	0.0652	N	0.10782	0.045	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.17289	-1.0374	9	0.72032	D	0.01	.	4.8561	0.13561	0.5:0.3439:0.156:0.0	.	250	Q9Y5E6	PCDB3_HUMAN	V	250	ENSP00000231130:A250V	ENSP00000231130:A250V	A	+	2	0	PCDHB3	140461166	0.000000	0.05858	0.025000	0.17156	0.013000	0.08279	-0.330000	0.07925	0.840000	0.34995	-0.262000	0.10625	GCA	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000113205		0.463	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0.00	22	0	C	NM_018937		140480982	+1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	78.26	5	18	SNP	0.000	T
PCDHB16	57717	genome.wustl.edu	37	5	140563150	140563150	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140563150A>G	ENST00000361016.2	+	1	2171	c.1016A>G	c.(1015-1017)gAc>gGc	p.D339G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	339	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGTGGTGGACGTGAATGAC	0.502																																																	0													94.0	101.0	98.0					5																	140563150		2203	4300	6503	SO:0001583	missense	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1016A>G	5.37:g.140563150A>G	ENSP00000354293:p.Asp339Gly		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D339G	ENST00000361016.2	37	c.1016	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	A	15.60	2.881071	0.51801	.	.	ENSG00000196963	ENST00000361016	T	0.03553	3.89	4.47	4.47	0.54385	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.35525	N	0.003141	T	0.30885	0.0779	H	0.98178	4.165	0.48632	D	0.999687	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.54323	-0.8311	10	0.87932	D	0	.	13.7715	0.63029	1.0:0.0:0.0:0.0	.	29;339	O15199;Q9NRJ7	.;PCDBG_HUMAN	G	339	ENSP00000354293:D339G	ENSP00000354293:D339G	D	+	2	0	PCDHB16	140543334	1.000000	0.71417	0.171000	0.22900	0.053000	0.15095	7.432000	0.80349	1.648000	0.50643	0.482000	0.46254	GAC	PCDHB16	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000196963		0.502	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	-	0.00	28	0	A	NM_020957		140563150	+1	tier1	-	no_errors	ENST00000361016	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.999	G
PCDHB16	57717	genome.wustl.edu	37	5	140563850	140563850	+	Silent	SNP	C	C	T	rs568748617		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140563850C>T	ENST00000361016.2	+	1	2871	c.1716C>T	c.(1714-1716)tgC>tgT	p.C572C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	572	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGCCCTGCACTGAGCTGG	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		12789	0.0		0.0	False		,,,				2504	0.001																0													16.0	19.0	18.0					5																	140563850		1985	3943	5928	SO:0001819	synonymous_variant	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1716C>T	5.37:g.140563850C>T			B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C572	ENST00000361016.2	37	c.1716	CCDS4251.1	5																																																																																			PCDHB16	-	superfamily_Cadherin-like	ENSG00000196963		0.701	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	-	0.00	43	0	C	NM_020957		140563850	+1	tier1	-	no_errors	ENST00000361016	ensembl	human	known	74_37	silent	23.76	138	43	SNP	0.966	T
PCDHB15	56121	genome.wustl.edu	37	5	140626827	140626827	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140626827G>A	ENST00000231173.3	+	1	1681	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V561M(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGCTGTACCC	0.726																																																	1	Substitution - Missense(1)	endometrium(1)											17.0	21.0	19.0					5																	140626827		2193	4285	6478	SO:0001583	missense	0			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1681G>A	5.37:g.140626827G>A	ENSP00000231173:p.Val561Met		Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V561M	ENST00000231173.3	37	c.1681	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042784	0.55003	.	.	ENSG00000113248	ENST00000231173	T	0.02050	4.48	4.17	2.98	0.34508	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.06142	0.0159	L	0.48174	1.505	0.28046	N	0.933543	D	0.71674	0.998	P	0.62885	0.908	T	0.21621	-1.0240	9	0.87932	D	0	.	5.9992	0.19511	0.3338:0.0:0.6662:0.0	.	561	Q9Y5E8	PCDBF_HUMAN	M	561	ENSP00000231173:V561M	ENSP00000231173:V561M	V	+	1	0	PCDHB15	140607011	0.110000	0.22057	1.000000	0.80357	0.997000	0.91878	0.603000	0.24149	2.066000	0.61787	0.479000	0.44913	GTG	PCDHB15	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000113248		0.726	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	-	0.00	91	0	G	NM_018935		140626827	+1	tier1	-	no_errors	ENST00000231173	ensembl	human	known	74_37	missense	69.32	53	122	SNP	0.655	A
PCDHGB2	56103	genome.wustl.edu	37	5	140741195	140741195	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140741195C>T	ENST00000522605.1	+	1	1493	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_5'Flank	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTGAAGCCGCGGGAGATT	0.612																																																	0													37.0	39.0	39.0					5																	140741195		1933	4128	6061	SO:0001583	missense	0			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1493C>T	5.37:g.140741195C>T	ENSP00000429018:p.Pro498Leu		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P498L	ENST00000522605.1	37	c.1493	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	6.523	0.464803	0.12402	.	.	ENSG00000253910	ENST00000522605	T	0.61510	0.1	5.18	4.29	0.51040	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67382	0.2887	L	0.52126	1.63	0.09310	N	1	P;D	0.89917	0.746;1.0	B;D	0.76575	0.262;0.988	T	0.55685	-0.8102	9	0.56958	D	0.05	.	8.1573	0.31176	0.2627:0.6581:0.0:0.0792	.	498;498	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	L	498	ENSP00000429018:P498L	ENSP00000429018:P498L	P	+	2	0	PCDHGB2	140721379	0.797000	0.28877	0.897000	0.35233	0.036000	0.12997	2.200000	0.42724	2.564000	0.86499	0.467000	0.42956	CCG	PCDHGB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253910		0.612	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	-	0.00	43	0	C	NM_018923		140741195	+1	tier1	-	no_errors	ENST00000522605	ensembl	human	known	74_37	missense	77.78	12	42	SNP	0.078	T
PCDHGB4	8641	genome.wustl.edu	37	5	140768214	140768214	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140768214G>A	ENST00000519479.1	+	1	763	c.763G>A	c.(763-765)Gtg>Atg	p.V255M	PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	255	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGAAAACGTGTACCCGGG	0.507																																																	0													164.0	167.0	166.0					5																	140768214		2050	4197	6247	SO:0001583	missense	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.763G>A	5.37:g.140768214G>A	ENSP00000428288:p.Val255Met		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V255M	ENST00000519479.1	37	c.763	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	7.748	0.702630	0.15172	.	.	ENSG00000253953	ENST00000519479	T	0.52754	0.65	4.99	0.846	0.18955	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31451	0.0797	L	0.43923	1.385	0.09310	N	1	P;P	0.46656	0.857;0.882	B;B	0.39379	0.197;0.298	T	0.29761	-1.0001	9	0.51188	T	0.08	.	0.3643	0.00369	0.2568:0.245:0.2831:0.215	.	255;255	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	M	255	ENSP00000428288:V255M	ENSP00000428288:V255M	V	+	1	0	PCDHGB4	140748398	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.367000	0.07553	0.589000	0.29677	0.655000	0.94253	GTG	PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000253953		0.507	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	-	0.00	21	0	G	NM_003736		140768214	+1	tier1	-	no_errors	ENST00000519479	ensembl	human	known	74_37	missense	28.57	40	16	SNP	0.000	A
PCGF6	84108	genome.wustl.edu	37	10	105063538	105063538	+	3'UTR	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:105063538delA	ENST00000369847.3	-	0	1244				PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_3'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6						negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TCTTGGTGCTAAAAATAGGTA	0.388																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.*124T>-	10.37:g.105063538delA			A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	RNA	DEL	-	NULL	ENST00000369847.3	37	NULL	CCDS31275.1	10																																																																																			PCGF6	-	-	ENSG00000156374		0.388	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF6	HGNC	protein_coding	OTTHUMT00000050132.1		0.00	49	0	A	NM_032154		105063538	-1	tier1		no_errors	ENST00000490296	ensembl	human	known	74_37	rna	30.91	38	17	DEL	0.070	-
PCNP	57092	genome.wustl.edu	37	3	101311692	101311692	+	3'UTR	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:101311692delT	ENST00000265260.3	+	0	753				PCNP_ENST00000469941.1_3'UTR|PCNP_ENST00000486406.1_3'UTR|PCNP_ENST00000296024.5_3'UTR	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein						cell cycle (GO:0007049)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)				large_intestine(1)|lung(1)	2						TTGGAGCCGCTTTTTTTTTCT	0.289																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS2942.1	3q12.3	2006-03-09			ENSG00000081154	ENSG00000081154			30023	protein-coding gene	gene with protein product		615210				12176013	Standard	NM_020357		Approved		uc003dva.3	Q8WW12	OTTHUMG00000159108	ENST00000265260.3:c.*95T>-	3.37:g.101311692delT			B2RBE7|D3DN52|Q53GF3|Q6AI44|Q96CU3|Q9NS81	RNA	DEL	-	NULL	ENST00000265260.3	37	NULL	CCDS2942.1	3																																																																																			PCNP	-	-	ENSG00000081154		0.289	PCNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNP	HGNC	protein_coding	OTTHUMT00000353338.2		0.00	28	0	T	NM_020357		101311692	+1	tier1		no_errors	ENST00000486406	ensembl	human	known	74_37	rna	22.86	27	8	DEL	0.864	-
PCNT	5116	genome.wustl.edu	37	21	47858171	47858173	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr21:47858171_47858173delAGA	ENST00000359568.5	+	41	9301_9303	c.9194_9196delAGA	c.(9193-9198)gagaag>gag	p.K3066del	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3066	Interaction with NEK2.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGACCCAGGAGAAGCTGGAGCT	0.522																																																	0																																										SO:0001651	inframe_deletion	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9194_9196delAGA	21.37:g.47858171_47858173delAGA	ENSP00000352572:p.Lys3066del		O43152|Q7Z7C9	In_Frame_Del	DEL	pfam_PACT_domain	p.K3066in_frame_del	ENST00000359568.5	37	c.9194_9196	CCDS33592.1	21																																																																																			PCNT	-	NULL	ENSG00000160299		0.522	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1		0.00	29	0	AGA	NM_006031		47858173	+1	tier1		no_errors	ENST00000359568	ensembl	human	known	74_37	in_frame_del	59.09	18	26	DEL	1.000:1.000:1.000	-
PDE4D	5144	genome.wustl.edu	37	5	58271490	58271490	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:58271490delT	ENST00000340635.6	-	14	2182	c.2007delA	c.(2005-2007)aaafs	p.K669fs	PDE4D_ENST00000317118.8_Frame_Shift_Del_p.K378fs|PDE4D_ENST00000360047.5_Frame_Shift_Del_p.K533fs|PDE4D_ENST00000358923.6_Frame_Shift_Del_p.K367fs|PDE4D_ENST00000503258.1_Frame_Shift_Del_p.K539fs|PDE4D_ENST00000507116.1_Frame_Shift_Del_p.K605fs|PDE4D_ENST00000405755.2_Frame_Shift_Del_p.K547fs|PDE4D_ENST00000546160.1_Frame_Shift_Del_p.K608fs|PDE4D_ENST00000502484.2_Frame_Shift_Del_p.K608fs	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	669					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TTACCTGTGATTTTTCCACGG	0.438																																																	0													81.0	85.0	84.0					5																	58271490		2147	4290	6437	SO:0001589	frameshift_variant	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2007delA	5.37:g.58271490delT	ENSP00000345502:p.Lys669fs		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Frame_Shift_Del	DEL	pfam_PDEase_catalytic_dom,prints_PDEase	p.K669fs	ENST00000340635.6	37	c.2007	CCDS47213.1	5																																																																																			PDE4D	-	pfam_PDEase_catalytic_dom	ENSG00000113448		0.438	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3		0.00	49	0	T			58271490	-1	tier1		no_errors	ENST00000340635	ensembl	human	known	74_37	frame_shift_del	62.00	19	31	DEL	1.000	-
PDE5A	8654	genome.wustl.edu	37	4	120484001	120484001	+	Missense_Mutation	SNP	T	T	C	rs148453628		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:120484001T>C	ENST00000354960.3	-	6	1437	c.1118A>G	c.(1117-1119)gAt>gGt	p.D373G	PDE5A_ENST00000264805.5_Missense_Mutation_p.D331G|PDE5A_ENST00000394439.1_Missense_Mutation_p.D321G	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	373	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GCAATCTTCATCCACTATGAA	0.308																																																	0													79.0	86.0	84.0					4																	120484001		2203	4300	6503	SO:0001583	missense	0			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1118A>G	4.37:g.120484001T>C	ENSP00000347046:p.Asp373Gly		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.D373G	ENST00000354960.3	37	c.1118	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423200	0.83559	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.75367	-0.93;-0.93;-0.93	5.3	5.3	0.74995	GAF (2);	0.205916	0.47852	D	0.000207	D	0.85869	0.5797	M	0.85630	2.765	0.80722	D	1	D;P	0.53745	0.962;0.852	P;P	0.60068	0.868;0.686	D	0.88428	0.3033	10	0.87932	D	0	.	15.2108	0.73222	0.0:0.0:0.0:1.0	.	373;331	O76074;O76074-2	PDE5A_HUMAN;.	G	373;321;331	ENSP00000347046:D373G;ENSP00000377957:D321G;ENSP00000264805:D331G	ENSP00000264805:D331G	D	-	2	0	PDE5A	120703449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.364000	0.79526	2.130000	0.65690	0.528000	0.53228	GAT	PDE5A	-	pfam_GAF,smart_GAF	ENSG00000138735		0.308	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	-	0.00	56	0	T	NM_001083		120484001	-1	tier1	-	no_errors	ENST00000354960	ensembl	human	known	74_37	missense	21.15	41	11	SNP	1.000	C
PDE9A	5152	genome.wustl.edu	37	21	44195538	44195540	+	3'UTR	DEL	AAA	AAA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr21:44195538_44195540delAAA	ENST00000291539.6	+	0	1977_1979				PDE9A_ENST00000398227.3_3'UTR|PDE9A_ENST00000398224.3_3'UTR|PDE9A_ENST00000398229.3_3'UTR|PDE9A_ENST00000380328.2_3'UTR|PDE9A_ENST00000328862.6_3'UTR|PDE9A_ENST00000349112.3_3'UTR|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000539837.1_3'UTR|PDE9A_ENST00000398232.3_3'UTR|PDE9A_ENST00000398225.3_3'UTR|PDE9A_ENST00000335440.6_3'UTR|PDE9A_ENST00000398234.3_3'UTR|PDE9A_ENST00000398236.3_3'UTR|PDE9A_ENST00000335512.4_3'UTR	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TCACTGATACAAAAAAAAAAAAA	0.394																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.*137AAA>-	21.37:g.44195547_44195549delAAA			B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	RNA	DEL	-	NULL	ENST00000291539.6	37	NULL	CCDS13690.1	21																																																																																			PDE9A	-	-	ENSG00000160191		0.394	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1		0.00	15	0	AAA			44195540	+1	tier1		no_errors	ENST00000460989	ensembl	human	known	74_37	rna	58.33	5	7	DEL	0.000:0.000:0.000	-
PDIA5	10954	genome.wustl.edu	37	3	122880331	122880332	+	Intron	INS	-	-	CT			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:122880331_122880332insCT	ENST00000316218.7	+	16	1574				PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TCTGCCCAGAGCTCTCTCTCTG	0.569																																																	0																																										SO:0001627	intron_variant	0			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1479+29->CT	3.37:g.122880340_122880341dupCT			D3DN95|Q9BV43	RNA	INS	-	NULL	ENST00000316218.7	37	NULL	CCDS3020.1	3																																																																																			PDIA5	-	-	ENSG00000065485		0.569	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1		0.00	23	0	-	NM_006810		122880332	+1	tier1		no_errors	ENST00000467157	ensembl	human	known	74_37	rna	23.81	16	5	INS	0.005:0.036	CT
PDLIM7	9260	genome.wustl.edu	37	5	176910724	176910724	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:176910724T>G	ENST00000355841.2	-	13	1361	c.1295A>C	c.(1294-1296)cAg>cCg	p.Q432P	PDLIM7_ENST00000359895.2_Missense_Mutation_p.Q398P|PDLIM7_ENST00000356618.4_3'UTR|PDLIM7_ENST00000505746.1_5'Flank	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	432	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGTTGATCTGACATATCTA	0.557																																																	0													67.0	62.0	63.0					5																	176910724		2203	4300	6503	SO:0001583	missense	0			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.1295A>C	5.37:g.176910724T>G	ENSP00000348099:p.Gln432Pro		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.Q432P	ENST00000355841.2	37	c.1295	CCDS4422.1	5	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321917	0.60634	.	.	ENSG00000196923	ENST00000359895;ENST00000355841	D;D	0.88509	-2.39;-2.39	5.55	5.55	0.83447	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000008	D	0.94411	0.8202	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.981;0.997	D	0.93878	0.7168	10	0.36615	T	0.2	.	15.4086	0.74900	0.0:0.0:0.0:1.0	.	432;398	Q9NR12;Q9NR12-2	PDLI7_HUMAN;.	P	398;432	ENSP00000352964:Q398P;ENSP00000348099:Q432P	ENSP00000348099:Q432P	Q	-	2	0	PDLIM7	176843330	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.112000	0.57845	2.132000	0.65825	0.454000	0.30748	CAG	PDLIM7	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000196923		0.557	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	-	0.00	30	0	T	NM_005451		176910724	-1	tier1	-	no_errors	ENST00000355841	ensembl	human	known	74_37	missense	83.64	9	46	SNP	1.000	G
PDX1	3651	genome.wustl.edu	37	13	28498619	28498619	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:28498619C>T	ENST00000381033.4	+	2	752	c.633C>T	c.(631-633)ggC>ggT	p.G211G		NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	81	Interaction with DLD.				cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		AGCGCGGCGGCGGGACAGCTG	0.662																																																	0													26.0	28.0	27.0					13																	28498619		2202	4300	6502	SO:0001819	synonymous_variant	0			AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"""Homeoboxes / ANTP class : HOXL subclass"""	6107	protein-coding gene	gene with protein product	"""somatostatin transcription factor 1"""	600733	"""insulin promoter factor 1, homeodomain transcription factor"""	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.633C>T	13.37:g.28498619C>T			B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.G211	ENST00000381033.4	37	c.633	CCDS9327.1	13																																																																																			PDX1	-	NULL	ENSG00000139515		0.662	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDX1	HGNC	protein_coding	OTTHUMT00000044310.2		0.00	12	0	C	NM_000209		28498619	+1			no_errors	ENST00000381033	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.994	T
PDZD2	23037	genome.wustl.edu	37	5	32087827	32087827	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:32087827A>G	ENST00000438447.1	+	20	4661	c.4273A>G	c.(4273-4275)Acg>Gcg	p.T1425A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1425A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1425			T -> M (in dbSNP:rs36097367).		cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGCCCTGTGACGGACATTGA	0.607																																																	0													40.0	41.0	40.0					5																	32087827		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4273A>G	5.37:g.32087827A>G	ENSP00000402033:p.Thr1425Ala		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T1425A	ENST00000438447.1	37	c.4273	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	A	18.87	3.714542	0.68730	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.08984	3.03;3.03	5.55	4.32	0.51571	.	0.000000	0.45867	D	0.000323	T	0.14787	0.0357	L	0.59436	1.845	0.35161	D	0.770647	D	0.58620	0.983	P	0.51016	0.656	T	0.10245	-1.0638	10	0.72032	D	0.01	.	9.6777	0.40050	0.8444:0.0:0.0:0.1556	.	1425	O15018	PDZD2_HUMAN	A	1425;1226;1425	ENSP00000402033:T1425A;ENSP00000282493:T1425A	ENSP00000282493:T1425A	T	+	1	0	PDZD2	32123584	0.997000	0.39634	0.840000	0.33206	0.677000	0.39632	2.808000	0.47963	2.117000	0.64856	0.533000	0.62120	ACG	PDZD2	-	NULL	ENSG00000133401		0.607	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0.00	30	0	A			32087827	+1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	16.82	89	18	SNP	0.993	G
PER1	5187	genome.wustl.edu	37	17	8053368	8053368	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:8053368C>T	ENST00000317276.4	-	4	687	c.450G>A	c.(448-450)ccG>ccA	p.P150P	PER1_ENST00000581082.1_Silent_p.P150P|PER1_ENST00000354903.5_Silent_p.P134P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	150	Interaction with BTRC. {ECO:0000269|PubMed:15917222}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCGCTCTGGCGGCAGTCGAA	0.627			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													100.0	113.0	109.0					17																	8053368		2202	4300	6502	SO:0001819	synonymous_variant	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.450G>A	17.37:g.8053368C>T			B2RPA8|B4DI49|D3DTR3	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.P150	ENST00000317276.4	37	c.450	CCDS11131.1	17																																																																																			PER1	-	NULL	ENSG00000179094		0.627	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2		0.00	19	0	C			8053368	-1			no_errors	ENST00000317276	ensembl	human	known	74_37	silent	10.81	31	4	SNP	0.898	T
PER3	8863	genome.wustl.edu	37	1	7846785	7846785	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:7846785C>T	ENST00000361923.2	+	3	454	c.279C>T	c.(277-279)aaC>aaT	p.N93N	PER3_ENST00000377532.3_Silent_p.N93N|PER3_ENST00000377541.1_Silent_p.N93N	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	93					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTAGCAAACAGTGAGTTTT	0.428																																																	0													119.0	109.0	112.0					1																	7846785		2203	4300	6503	SO:0001819	synonymous_variant	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.279C>T	1.37:g.7846785C>T			Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.N93	ENST00000361923.2	37	c.279	CCDS89.1	1																																																																																			PER3	-	NULL	ENSG00000049246		0.428	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	-	0.00	51	0	C	NM_016831		7846785	+1	tier1	-	no_errors	ENST00000361923	ensembl	human	known	74_37	silent	22.58	48	14	SNP	1.000	T
PGM5	5239	genome.wustl.edu	37	9	71094403	71094403	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:71094403G>A	ENST00000396396.1	+	8	1458	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	410					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.R410Q(2)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATTGCTGCCCGGAAGCAGAGT	0.532																																																	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)											114.0	116.0	115.0					9																	71094403		2203	4300	6503	SO:0001583	missense	0			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1229G>A	9.37:g.71094403G>A	ENSP00000379678:p.Arg410Gln		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.R410Q	ENST00000396396.1	37	c.1229	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470453	0.84533	.	.	ENSG00000154330	ENST00000396396	T	0.41400	1.0	5.49	5.49	0.81192	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.057554	0.64402	D	0.000002	T	0.63462	0.2513	M	0.85099	2.735	0.80722	D	1	D	0.71674	0.998	P	0.54815	0.761	T	0.68044	-0.5513	10	0.52906	T	0.07	.	18.4944	0.90860	0.0:0.0:1.0:0.0	.	410	Q15124	PGM5_HUMAN	Q	410	ENSP00000379678:R410Q	ENSP00000379678:R410Q	R	+	2	0	PGM5	70284223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.539000	0.73856	2.739000	0.93911	0.563000	0.77884	CGG	PGM5	-	pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000154330		0.532	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	-	0.00	44	0	G	NM_021965		71094403	+1	tier1	-	no_errors	ENST00000396396	ensembl	human	known	74_37	missense	78.33	13	47	SNP	1.000	A
PHACTR1	221692	genome.wustl.edu	37	6	13278490	13278490	+	Intron	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:13278490delT	ENST00000379335.3	+	2	244				RP1-257A7.4_ENST00000606150.1_RNA|PHACTR1_ENST00000379329.1_Intron|PHACTR1_ENST00000332995.7_Intron|RP1-257A7.4_ENST00000399446.2_RNA|PHACTR1_ENST00000457702.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1						actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			ATCTTAAATATTTTTTTTAGC	0.433																																																	0									,	6,22,3490		0,0,6,5,12,1736	29.0	32.0	31.0		,	-5.5	0.1	6		31	13,39,7754		0,0,13,6,27,3857	no	intron,intron	PHACTR1	NM_030948.2,NM_001242648.1	,	0,0,19,11,39,5593	A1A1,A1A2,A1R,A2A2,A2R,RR		0.6662,0.7959,0.7065	,	,	13278490	19,61,11244	1823	4073	5896	SO:0001627	intron_variant	0			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379335.3:c.140-10T>-	6.37:g.13278490delT			A8K1V2|Q3MJ93|Q5JSJ2	RNA	DEL	-	NULL	ENST00000379335.3	37	NULL		6																																																																																			PHACTR1	-	-	ENSG00000112137		0.433	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	PHACTR1	HGNC	protein_coding	OTTHUMT00000039878.1		0.00	25	0	T	XM_166420		13278490	+1	tier1		no_errors	ENST00000481706	ensembl	human	known	74_37	rna	45.71	19	16	DEL	0.709	-
PHF1	5252	genome.wustl.edu	37	6	33382566	33382566	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:33382566delC	ENST00000374516.3	+	11	1280	c.1009delC	c.(1009-1011)cccfs	p.P338fs	PHF1_ENST00000374512.3_Frame_Shift_Del_p.P338fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	338					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCGGATGCCTCCCCCTGTGGA	0.522											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													85.0	81.0	83.0					6																	33382566		2202	4299	6501	SO:0001589	frameshift_variant	0			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1009delC	6.37:g.33382566delC	ENSP00000363640:p.Pro338fs	839	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P338fs	ENST00000374516.3	37	c.1009	CCDS4777.1	6																																																																																			PHF1	-	NULL	ENSG00000112511		0.522	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF1	HGNC	protein_coding	OTTHUMT00000076175.3		0.00	24	0	C			33382566	+1	tier1		no_errors	ENST00000374516	ensembl	human	known	74_37	frame_shift_del	23.08	20	6	DEL	1.000	-
PHF12	57649	genome.wustl.edu	37	17	27234682	27234682	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:27234682T>A	ENST00000332830.4	-	13	3277	c.2467A>T	c.(2467-2469)Atg>Ttg	p.M823L	PHF12_ENST00000582655.1_5'Flank|PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CACACATCCATGTCAGCTCCT	0.522																																																	0													106.0	84.0	91.0					17																	27234682		2203	4300	6503	SO:0001583	missense	0			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2467A>T	17.37:g.27234682T>A	ENSP00000329933:p.Met823Leu			Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.M823L	ENST00000332830.4	37	c.2467	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	T	21.4	4.142542	0.77888	.	.	ENSG00000109118	ENST00000332830	T	0.40476	1.03	4.44	3.37	0.38596	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	L	0.61218	1.895	0.80722	D	1	B;B	0.15930	0.008;0.015	B;B	0.12156	0.007;0.003	T	0.13710	-1.0499	10	0.28530	T	0.3	-10.8455	8.89	0.35427	0.0:0.0901:0.0:0.9099	.	805;823	B4DFE2;Q96QT6	.;PHF12_HUMAN	L	823	ENSP00000329933:M823L	ENSP00000329933:M823L	M	-	1	0	PHF12	24258808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.525000	0.81892	0.735000	0.32537	0.383000	0.25322	ATG	PHF12	-	superfamily_SMAD_FHA_domain,pfscan_FHA_dom	ENSG00000109118		0.522	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	-	0.00	36	0	T	NM_020889		27234682	-1	tier1	-	no_errors	ENST00000332830	ensembl	human	known	74_37	missense	42.50	46	34	SNP	1.000	A
PHF21B	112885	genome.wustl.edu	37	22	45312251	45312251	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:45312251C>T	ENST00000313237.5	-	4	623	c.473G>A	c.(472-474)aGc>aAc	p.S158N	PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000447824.3_Missense_Mutation_p.S146N|PHF21B_ENST00000396103.3_Missense_Mutation_p.S158N|PHF21B_ENST00000404079.2_Missense_Mutation_p.S146N	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	158							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGCGGCATTGCTGGGGGAGGT	0.697																																																	0													20.0	26.0	24.0					22																	45312251		2201	4297	6498	SO:0001583	missense	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.473G>A	22.37:g.45312251C>T	ENSP00000324403:p.Ser158Asn		B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S158N	ENST00000313237.5	37	c.473	CCDS14061.1	22	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014101	0.75161	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	D;D;D;T;T	0.85088	-1.94;-1.58;-1.57;1.43;0.53	5.09	5.09	0.68999	.	0.149694	0.46145	N	0.000316	D	0.88577	0.6474	L	0.38175	1.15	0.39481	D	0.967894	D;D;D;D	0.67145	0.996;0.99;0.983;0.968	D;P;P;P	0.75484	0.986;0.904;0.804;0.587	D	0.86857	0.2027	10	0.25751	T	0.34	-15.9168	18.516	0.90936	0.0:1.0:0.0:0.0	.	146;158;146;158	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	N	158;158;146;146;146	ENSP00000324403:S158N;ENSP00000379410:S158N;ENSP00000385105:S146N;ENSP00000388619:S146N;ENSP00000401294:S146N	ENSP00000324403:S158N	S	-	2	0	PHF21B	43690915	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.521000	0.35910	2.368000	0.80403	0.655000	0.94253	AGC	PHF21B	-	NULL	ENSG00000056487		0.697	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	-	0.00	25	0	C	NM_138415		45312251	-1	tier1	-	no_errors	ENST00000313237	ensembl	human	known	74_37	missense	30.23	30	13	SNP	1.000	T
PHLDB1	23187	genome.wustl.edu	37	11	118499019	118499019	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:118499019C>T	ENST00000361417.2	+	7	1891	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	PHLDB1_ENST00000356063.5_Missense_Mutation_p.R494C	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	494										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCGGCCCCGGCGCTGGGCAGC	0.672																																																	0													25.0	32.0	29.0					11																	118499019		2200	4293	6493	SO:0001583	missense	0				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1480C>T	11.37:g.118499019C>T	ENSP00000354498:p.Arg494Cys		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R494C	ENST00000361417.2	37	c.1480	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674263	0.67928	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.44881	0.96;0.91	5.42	5.42	0.78866	.	0.105732	0.64402	D	0.000006	T	0.56673	0.2001	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.67725	0.953;0.911;0.948	T	0.58923	-0.7550	10	0.87932	D	0	-21.8619	18.1964	0.89823	0.0:1.0:0.0:0.0	.	494;494;494	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	C	494;253;494	ENSP00000354498:R494C;ENSP00000348359:R494C	ENSP00000348359:R494C	R	+	1	0	PHLDB1	118004229	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.417000	0.52714	2.543000	0.85770	0.561000	0.74099	CGC	PHLDB1	-	NULL	ENSG00000019144		0.672	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1	-	0.00	21	0	C	NM_015157		118499019	+1	tier1	-	no_errors	ENST00000361417	ensembl	human	known	74_37	missense	50.00	21	21	SNP	1.000	T
PHTF2	57157	genome.wustl.edu	37	7	77569845	77569845	+	Splice_Site	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:77569845C>T	ENST00000248550.7	+	14	1817	c.1741C>T	c.(1741-1743)Cga>Tga	p.R581*	PHTF2_ENST00000275575.7_Splice_Site_p.R543*|PHTF2_ENST00000416283.2_Splice_Site_p.R547*|PHTF2_ENST00000307305.8_Splice_Site_p.R543*|PHTF2_ENST00000422959.2_Splice_Site_p.R547*			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TCTTTTTTAGCGATTACTTTT	0.303																																																	0													51.0	48.0	49.0					7																	77569845		1794	4057	5851	SO:0001630	splice_region_variant	0			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1741-1C>T	7.37:g.77569845C>T			A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Nonsense_Mutation	SNP	pfam_TF_homeodomain_male	p.R581*	ENST00000248550.7	37	c.1741		7	.	.	.	.	.	.	.	.	.	.	C	37	6.351818	0.97498	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.57	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.863	11.1134	0.48246	0.4079:0.5921:0.0:0.0	.	.	.	.	X	547;547;543;543;547;581	.	.	R	+	1	2	PHTF2	77407781	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.388000	0.59633	2.627000	0.88993	0.467000	0.42956	CGA	PHTF2	-	NULL	ENSG00000006576		0.303	PHTF2-006	KNOWN	basic	protein_coding	PHTF2	HGNC	protein_coding	OTTHUMT00000340638.2	-	0.00	41	0	C	NM_020432	Nonsense_Mutation	77569845	+1	tier1	-	no_errors	ENST00000248550	ensembl	human	known	74_37	nonsense	20.37	43	11	SNP	1.000	T
PI4KA	5297	genome.wustl.edu	37	22	21147531	21147531	+	Splice_Site	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:21147531C>T	ENST00000572273.1	-	19	2334	c.2104G>A	c.(2104-2106)Gct>Act	p.A702T	PI4KA_ENST00000255882.6_Splice_Site_p.A760T|PI4KA_ENST00000466162.1_5'UTR			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	702					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)			CTGCTAGAAGCCTAGAAAAGA	0.333																																					GBM(136;1332 1831 3115 23601 50806)												0													130.0	119.0	123.0					22																	21147531		2203	4300	6503	SO:0001630	splice_region_variant	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.2104-1G>A	22.37:g.21147531C>T			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.A760T	ENST00000572273.1	37	c.2278		22	.	.	.	.	.	.	.	.	.	.	C	33	5.205083	0.95033	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.69823	2.125	0.80722	D	1	P	0.52316	0.952	P	0.51945	0.685	T	0.72606	-0.4242	9	0.40728	T	0.16	-16.815	18.6746	0.91524	0.0:1.0:0.0:0.0	.	702	P42356	PI4KA_HUMAN	T	702	.	ENSP00000255882:A702T	A	-	1	0	PI4KA	19477531	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.518000	0.81795	2.653000	0.90120	0.655000	0.94253	GCT	PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.333	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0.00	22	0	C	NM_058004	Missense_Mutation	21147531	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	T
PIBF1	10464	genome.wustl.edu	37	13	73505320	73505320	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:73505320G>C	ENST00000326291.6	+	14	2086	c.1748G>C	c.(1747-1749)aGa>aCa	p.R583T		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	583						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTGGCAAGAAGAGTGCTTCAA	0.318																																																	0													47.0	47.0	47.0					13																	73505320		2203	4299	6502	SO:0001583	missense	0			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1748G>C	13.37:g.73505320G>C	ENSP00000317144:p.Arg583Thr		O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	superfamily_t-SNARE	p.R583T	ENST00000326291.6	37	c.1748	CCDS31991.1	13	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908464	0.72868	.	.	ENSG00000083535	ENST00000326291;ENST00000326314	T	0.44083	0.93	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	M	0.69823	2.125	0.58432	D	0.999998	D;D	0.67145	0.996;0.996	D;D	0.77557	0.99;0.99	T	0.64626	-0.6363	10	0.54805	T	0.06	-12.9086	18.2762	0.90084	0.0:0.0:1.0:0.0	.	583;583	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	T	583;42	ENSP00000317144:R583T	ENSP00000317144:R583T	R	+	2	0	PIBF1	72403321	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.312000	0.72840	2.833000	0.97629	0.655000	0.94253	AGA	PIBF1	-	NULL	ENSG00000083535		0.318	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIBF1	HGNC	protein_coding	OTTHUMT00000045255.1	-	0.00	18	0	G	NM_006346		73505320	+1	tier1	-	no_errors	ENST00000326291	ensembl	human	known	74_37	missense	50.00	7	7	SNP	1.000	C
PIEZO2	63895	genome.wustl.edu	37	18	10699097	10699097	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:10699097C>T	ENST00000503781.3	-	40	6180	c.6181G>A	c.(6181-6183)Ggt>Agt	p.G2061S	PIEZO2_ENST00000538948.1_Missense_Mutation_p.G18S|PIEZO2_ENST00000285141.4_5'UTR|PIEZO2_ENST00000302079.6_Missense_Mutation_p.G2061S|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2086S	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2061					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CTGCCATGACCGAGGGAGAGC	0.562																																																	0													55.0	54.0	54.0					18																	10699097		692	1591	2283	SO:0001583	missense	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6181G>A	18.37:g.10699097C>T	ENSP00000421377:p.Gly2061Ser		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	pfam_Piezo	p.G18S	ENST00000503781.3	37	c.52		18	.	.	.	.	.	.	.	.	.	.	C	2.636	-0.285313	0.05605	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948	T;T	0.71103	-0.54;-0.54	5.68	-1.7	0.08159	.	.	.	.	.	T	0.31482	0.0798	N	0.00926	-1.1	0.09310	N	0.999998	.	.	.	.	.	.	T	0.24835	-1.0149	7	0.09590	T	0.72	.	4.3433	0.11120	0.0932:0.3345:0.094:0.4783	.	.	.	.	S	18;2061;18	ENSP00000303316:G2061S;ENSP00000443129:G18S	ENSP00000303316:G2061S	G	-	1	0	FAM38B	10689097	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.111000	0.10807	-0.587000	0.05890	-1.036000	0.02392	GGT	PIEZO2	-	NULL	ENSG00000154864		0.562	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0.00	28	0	C	NM_022068		10699097	-1	tier1	-	no_errors	ENST00000538948	ensembl	human	known	74_37	missense	40.54	22	15	SNP	0.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178921458	178921458	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:178921458G>T	ENST00000263967.3	+	5	1097	c.940G>T	c.(940-942)Gct>Tct	p.A314S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	314					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATTTCCACAGCTACACCATA	0.373		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0													116.0	111.0	113.0					3																	178921458		1860	4098	5958	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.940G>T	3.37:g.178921458G>T	ENSP00000263967:p.Ala314Ser		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.A314S	ENST00000263967.3	37	c.940	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476208	0.63737	.	.	ENSG00000121879	ENST00000263967	T	0.72167	-0.63	5.25	5.25	0.73442	.	0.109182	0.64402	D	0.000007	T	0.56455	0.1986	N	0.24115	0.695	0.80722	D	1	B	0.21905	0.062	B	0.18871	0.023	T	0.54490	-0.8286	10	0.07030	T	0.85	-19.1991	19.2153	0.93774	0.0:0.0:1.0:0.0	.	314	P42336	PK3CA_HUMAN	S	314	ENSP00000263967:A314S	ENSP00000263967:A314S	A	+	1	0	PIK3CA	180404152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.397000	0.79903	2.624000	0.88883	0.467000	0.42956	GCT	PIK3CA	-	NULL	ENSG00000121879		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2		0.00	48	0	G			178921458	+1			no_errors	ENST00000263967	ensembl	human	known	74_37	missense	5.15	92	5	SNP	1.000	T
PIK3R3	8503	genome.wustl.edu	37	1	46508950	46508951	+	3'UTR	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:46508950_46508951insA	ENST00000262741.5	-	0	2469_2470				PIK3R3_ENST00000354242.4_3'UTR|PIK3R3_ENST00000340332.6_3'UTR|PIK3R3_ENST00000372006.1_3'UTR|PIK3R3_ENST00000420542.1_3'UTR|PIK3R3_ENST00000488808.1_5'UTR	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)						insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	CCAGCAGAGCCATGCCCCTGCT	0.446																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.*395->T	1.37:g.46508951_46508951dupA			B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	RNA	INS	-	NULL	ENST00000262741.5	37	NULL	CCDS529.1	1																																																																																			PIK3R3	-	-	ENSG00000117461		0.446	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1		0.00	18	0	-	NM_003629		46508951	-1	tier1		no_errors	ENST00000488808	ensembl	human	known	74_37	rna	38.89	11	7	INS	0.006:0.000	A
PILRB	29990	genome.wustl.edu	37	7	99956488	99956490	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:99956488_99956490delCTT	ENST00000452089.1	+	7	1299_1301	c.240_242delCTT	c.(238-243)tccttc>tcc	p.F81del	PILRB_ENST00000444073.1_In_Frame_Del_p.F81del|PILRB_ENST00000609309.1_In_Frame_Del_p.F81del|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000610247.1_In_Frame_Del_p.F81del			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	81	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACGGGCAGTCCTTCTACAGCACA	0.537																																																	0																																										SO:0001651	inframe_deletion	0			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.240_242delCTT	7.37:g.99956488_99956490delCTT	ENSP00000391748:p.Phe81del		Q69YF9|Q9HBS0	In_Frame_Del	DEL	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.F81in_frame_del	ENST00000452089.1	37	c.240_242	CCDS43622.1	7																																																																																			PILRB	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000121716		0.537	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRB	HGNC	protein_coding	OTTHUMT00000339923.2		0.00	57	0	CTT	NM_178238		99956490	+1	tier1		no_errors	ENST00000444073	ensembl	human	known	74_37	in_frame_del	19.10	72	17	DEL	0.108:0.107:0.153	-
PINK1	65018	genome.wustl.edu	37	1	20977076	20977076	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:20977076G>T	ENST00000321556.4	+	8	1732	c.1638G>T	c.(1636-1638)gaG>gaT	p.E546D	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	546					activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCTCACAGAGAAGTGTTGTG	0.512																																					Esophageal Squamous(145;853 1803 8146 34412 35011)												0													81.0	73.0	76.0					1																	20977076		2203	4300	6503	SO:0001583	missense	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1638G>T	1.37:g.20977076G>T	ENSP00000364204:p.Glu546Asp		Q8N6T9|Q8NBU3|Q96DE4	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.E546D	ENST00000321556.4	37	c.1638	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956084	0.53293	.	.	ENSG00000158828	ENST00000321556	T	0.74421	-0.84	5.79	5.79	0.91817	.	0.403752	0.28515	N	0.015067	T	0.64832	0.2634	L	0.35414	1.06	0.36647	D	0.877188	B;B	0.14012	0.002;0.009	B;B	0.12156	0.006;0.007	T	0.62666	-0.6806	10	0.23302	T	0.38	-16.447	15.5333	0.75980	0.0:0.0:1.0:0.0	.	239;546	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	D	546	ENSP00000364204:E546D	ENSP00000364204:E546D	E	+	3	2	PINK1	20849663	0.998000	0.40836	0.997000	0.53966	0.965000	0.64279	1.046000	0.30354	2.749000	0.94314	0.491000	0.48974	GAG	PINK1	-	NULL	ENSG00000158828		0.512	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	-	0.00	26	0	G	NM_032409		20977076	+1	tier1	-	no_errors	ENST00000321556	ensembl	human	known	74_37	missense	65.62	11	21	SNP	1.000	T
PIP4K2A	5305	genome.wustl.edu	37	10	22830827	22830828	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:22830827_22830828insG	ENST00000376573.4	-	8	1169_1170	c.941_942insC	c.(940-942)ccafs	p.P314fs	PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.P174fs|PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.P255fs	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	314	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTCC	0.584																																																	0																																										SO:0001589	frameshift_variant	0			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.942dupC	10.37:g.22830834_22830834dupG	ENSP00000365757:p.Pro314fs		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Frame_Shift_Ins	INS	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.D315fs	ENST00000376573.4	37	c.942_941	CCDS7141.1	10																																																																																			PIP4K2A	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000150867		0.584	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2A	HGNC	protein_coding	OTTHUMT00000047193.1		0.00	13	0	-	NM_005028		22830828	-1	tier1		no_errors	ENST00000376573	ensembl	human	known	74_37	frame_shift_ins	68.18	7	15	INS	0.026:1.000	G
PIR	8544	genome.wustl.edu	37	X	15408207	15408208	+	Intron	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:15408207_15408208insA	ENST00000380421.3	-	9	1221				PIR_ENST00000380420.5_Intron	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)						monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					AGAGACAGGACAAAAAAAACCA	0.292																																					Ovarian(180;1587 2015 10555 34192 51653)												0																																										SO:0001627	intron_variant	0			Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.760+98->T	X.37:g.15408215_15408215dupA			Q5U0G0|Q6FHD2	RNA	INS	-	NULL	ENST00000380421.3	37	NULL	CCDS14167.1	X																																																																																			PIR	-	-	ENSG00000087842		0.292	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIR	HGNC	protein_coding	OTTHUMT00000055863.1		0.00	12	0	-	NM_003662		15408208	-1	tier1		no_errors	ENST00000484433	ensembl	human	known	74_37	rna	47.37	10	9	INS	0.003:0.001	A
PIWIL2	55124	genome.wustl.edu	37	8	22211817	22211817	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:22211817G>A	ENST00000454009.2	+	22	3200	c.2691G>A	c.(2689-2691)cgG>cgA	p.R897R	PIWIL2_ENST00000356766.6_Silent_p.R897R|PIWIL2_ENST00000521356.1_Intron	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	897	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATCATGTACGGCAGGGCTGTG	0.483																																																	0													199.0	161.0	174.0					8																	22211817		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2691G>A	8.37:g.22211817G>A			A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.R897	ENST00000454009.2	37	c.2691	CCDS6029.1	8																																																																																			PIWIL2	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000197181		0.483	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	-	0.00	64	0	G			22211817	+1	tier1	-	no_errors	ENST00000356766	ensembl	human	known	74_37	silent	68.63	16	35	SNP	0.937	A
PKD1L1	168507	genome.wustl.edu	37	7	47925456	47925456	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:47925456C>A	ENST00000289672.2	-	18	3083	c.3033G>T	c.(3031-3033)gaG>gaT	p.E1011D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1011	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGTCATGGGCTCTGTGGGGG	0.602																																																	0													84.0	88.0	87.0					7																	47925456		2203	4300	6503	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3033G>T	7.37:g.47925456C>A	ENSP00000289672:p.Glu1011Asp		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.E1011D	ENST00000289672.2	37	c.3033	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	8.404	0.842717	0.16963	.	.	ENSG00000158683	ENST00000289672	T	0.21191	2.02	4.88	0.358	0.16084	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	2571.270000	0.00166	N	0.000000	T	0.19005	0.0456	L	0.44542	1.39	0.09310	N	1	D	0.53312	0.959	B	0.44315	0.446	T	0.21621	-1.0240	10	0.13108	T	0.6	-2.1129	4.1268	0.10131	0.0:0.4733:0.1874:0.3393	.	1011	Q8TDX9	PK1L1_HUMAN	D	1011	ENSP00000289672:E1011D	ENSP00000289672:E1011D	E	-	3	2	PKD1L1	47891981	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.192000	0.09587	0.177000	0.19895	0.579000	0.79373	GAG	PKD1L1	-	pfam_PKD/REJ-like,pfscan_REJ-like	ENSG00000158683		0.602	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	-	0.00	19	0	C	NM_138295		47925456	-1	tier1	-	no_errors	ENST00000289672	ensembl	human	known	74_37	missense	30.26	53	23	SNP	0.000	A
PDXDC1	23042	genome.wustl.edu	37	16	15225202	15225202	+	Intron	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:15225202A>G	ENST00000535621.2	+	17	1587				PKD1P6_ENST00000424133.2_RNA|RP11-1186N24.5_ENST00000605794.1_RNA			Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1						carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGACGGTGTAGTTGCTGATA	0.612																																																	0																																										SO:0001627	intron_variant	0			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000535621.2:c.1400-7534A>G	16.37:g.15225202A>G			B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	RNA	SNP	-	NULL	ENST00000535621.2	37	NULL		16																																																																																			PKD1P6	-	-	ENSG00000250251		0.612	PDXDC1-016	PUTATIVE	basic	protein_coding	PKD1P6	HGNC	protein_coding	OTTHUMT00000422421.1	-	0.00	87	0	A	NM_015027		15225202	-1	tier1	-	no_errors	ENST00000424133	ensembl	human	known	74_37	rna	53.66	57	66	SNP	1.000	G
PKDREJ	10343	genome.wustl.edu	37	22	46655330	46655330	+	Missense_Mutation	SNP	C	C	T	rs558518913		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:46655330C>T	ENST00000253255.5	-	1	3889	c.3890G>A	c.(3889-3891)cGt>cAt	p.R1297H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1297	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTGCCACACACGGATGGAATG	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21260	0.0		0.0	False		,,,				2504	0.0																0													125.0	116.0	119.0					22																	46655330		2203	4300	6503	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3890G>A	22.37:g.46655330C>T	ENSP00000253255:p.Arg1297His		B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2	p.R1297H	ENST00000253255.5	37	c.3890	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286833	0.40494	.	.	ENSG00000130943	ENST00000253255	T	0.67523	-0.27	5.36	2.07	0.26955	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.213541	0.31415	N	0.007682	T	0.51924	0.1703	L	0.45285	1.41	0.09310	N	1	P	0.35411	0.5	B	0.30572	0.117	T	0.41910	-0.9482	10	0.45353	T	0.12	-12.4166	8.4737	0.33001	0.0:0.6969:0.0:0.3031	.	1297	Q9NTG1	PKDRE_HUMAN	H	1297	ENSP00000253255:R1297H	ENSP00000253255:R1297H	R	-	2	0	PKDREJ	45033994	0.191000	0.23288	0.013000	0.15412	0.901000	0.52897	0.543000	0.23237	0.323000	0.23307	0.511000	0.50034	CGT	PKDREJ	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom	ENSG00000130943		0.453	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	-	0.00	57	0	C	NM_006071		46655330	-1	tier1	-	no_errors	ENST00000253255	ensembl	human	known	74_37	missense	40.00	33	22	SNP	0.031	T
PKN3	29941	genome.wustl.edu	37	9	131482844	131482844	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:131482844C>T	ENST00000291906.4	+	22	3022	c.2629C>T	c.(2629-2631)Cgg>Tgg	p.R877W	ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	877	AGC-kinase C-terminal.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGCCGCCTTCCGGGACTTCGA	0.637																																																	0													39.0	40.0	40.0					9																	131482844		2203	4300	6503	SO:0001583	missense	0			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2629C>T	9.37:g.131482844C>T	ENSP00000291906:p.Arg877Trp		Q9UM03	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.R877W	ENST00000291906.4	37	c.2629	CCDS6908.1	9	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978046	0.74360	.	.	ENSG00000160447	ENST00000291906	T	0.62232	0.04	4.9	4.0	0.46444	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	.	.	.	.	T	0.71787	0.3381	M	0.84511	2.7	0.35254	D	0.778924	D	0.65815	0.995	P	0.54210	0.745	T	0.79361	-0.1835	9	0.87932	D	0	.	6.2472	0.20825	0.1828:0.7213:0.0:0.0959	.	877	Q6P5Z2	PKN3_HUMAN	W	877	ENSP00000291906:R877W	ENSP00000291906:R877W	R	+	1	2	PKN3	130522665	0.988000	0.35896	0.998000	0.56505	0.943000	0.58893	1.931000	0.40134	1.061000	0.40601	0.462000	0.41574	CGG	PKN3	-	pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C	ENSG00000160447		0.637	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN3	HGNC	protein_coding	OTTHUMT00000054487.1	-	0.00	24	0	C	NM_013355		131482844	+1	tier1	-	no_errors	ENST00000291906	ensembl	human	known	74_37	missense	69.84	19	44	SNP	0.997	T
PLCB4	5332	genome.wustl.edu	37	20	9460657	9460658	+	3'UTR	INS	-	-	TA	rs536773247	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:9460657_9460658insTA	ENST00000378493.1	+	0	4564_4565				PLCB4_ENST00000378473.3_3'UTR|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_3'UTR|PLCB4_ENST00000334005.3_3'UTR|PLCB4_ENST00000378501.2_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4						inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AACCCTCTCTCTATATATATAT	0.252																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.*1022->TA	20.37:g.9460666_9460667dupTA			B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	RNA	INS	-	NULL	ENST00000378493.1	37	NULL	CCDS13105.1	20																																																																																			PLCB4	-	-	ENSG00000101333		0.252	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2		0.00	17	0	-			9460658	+1	tier1		no_errors	ENST00000464199	ensembl	human	known	74_37	rna	31.03	20	9	INS	0.024:0.089	TA
PLD2	5338	genome.wustl.edu	37	17	4711646	4711646	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:4711646delT	ENST00000263088.6	+	4	449	c.318delT	c.(316-318)catfs	p.H106fs	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Frame_Shift_Del_p.H106fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	106	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AATACCGTCATTTTCAGGAGC	0.542																																																	0													192.0	188.0	190.0					17																	4711646		2203	4300	6503	SO:0001589	frameshift_variant	0			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.318delT	17.37:g.4711646delT	ENSP00000263088:p.His106fs		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Frame_Shift_Del	DEL	pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.Q108fs	ENST00000263088.6	37	c.318	CCDS11057.1	17																																																																																			PLD2	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox	ENSG00000129219		0.542	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD2	HGNC	protein_coding	OTTHUMT00000207561.3		0.00	22	0	T	NM_002663		4711646	+1	tier1		no_errors	ENST00000263088	ensembl	human	known	74_37	frame_shift_del	26.56	47	17	DEL	1.000	-
PLEC	5339	genome.wustl.edu	37	8	145008493	145008493	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:145008493A>G	ENST00000322810.4	-	11	1742	c.1573T>C	c.(1573-1575)Ttt>Ctt	p.F525L	PLEC_ENST00000345136.3_Missense_Mutation_p.F388L|PLEC_ENST00000398774.2_Missense_Mutation_p.F356L|PLEC_ENST00000527096.1_Missense_Mutation_p.F411L|PLEC_ENST00000356346.3_Missense_Mutation_p.F374L|PLEC_ENST00000354589.3_Missense_Mutation_p.F388L|PLEC_ENST00000354958.2_Missense_Mutation_p.F366L|PLEC_ENST00000357649.2_Missense_Mutation_p.F392L|PLEC_ENST00000436759.2_Missense_Mutation_p.F415L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	525	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCTCTCAAACTCGCTGCGG	0.701																																																	0													34.0	39.0	37.0					8																	145008493		2015	4160	6175	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1573T>C	8.37:g.145008493A>G	ENSP00000323856:p.Phe525Leu		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.F525L	ENST00000322810.4	37	c.1573	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	A	16.02	3.005211	0.54254	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	T;T;T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.41	5.41	0.78517	.	0.000000	0.64402	U	0.000006	T	0.46964	0.1420	L	0.28740	0.885	0.49483	D	0.999794	B;B;B;B;B;B;B;B	0.19583	0.037;0.037;0.037;0.022;0.037;0.037;0.037;0.037	B;B;B;B;B;B;B;B	0.12156	0.007;0.007;0.007;0.003;0.007;0.007;0.007;0.007	T	0.41070	-0.9529	10	0.30078	T	0.28	.	9.0403	0.36314	0.9158:0.0:0.0842:0.0	.	415;374;366;525;356;388;392;388	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	388;392;388;356;525;366;374;415;411;432	ENSP00000344848:F388L;ENSP00000350277:F392L;ENSP00000346602:F388L;ENSP00000381756:F356L;ENSP00000323856:F525L;ENSP00000347044:F366L;ENSP00000348702:F374L;ENSP00000388180:F415L;ENSP00000434583:F411L;ENSP00000437303:F432L	ENSP00000323856:F525L	F	-	1	0	PLEC	145080481	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.175000	0.42491	2.058000	0.61347	0.528000	0.53228	TTT	PLEC	-	NULL	ENSG00000178209		0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0.00	40	0	A	NM_000445		145008493	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	31.10	113	51	SNP	1.000	G
PLEKHG4	25894	genome.wustl.edu	37	16	67320198	67320198	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:67320198G>A	ENST00000360461.5	+	14	4999	c.2464G>A	c.(2464-2466)Gcg>Acg	p.A822T	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A822T|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A822T|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A741T	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	822	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGATGTACGCGCTCTACAG	0.557																																																	0													158.0	119.0	132.0					16																	67320198		2198	4300	6498	SO:0001583	missense	0			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2464G>A	16.37:g.67320198G>A	ENSP00000353646:p.Ala822Thr		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A822T	ENST00000360461.5	37	c.2464	CCDS32466.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.224595	0.95139	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.44	5.44	0.79542	Dbl homology (DH) domain (5);	0.000000	0.33199	N	0.005163	T	0.75376	0.3841	L	0.57130	1.785	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.75548	-0.3279	10	0.51188	T	0.08	.	14.6269	0.68626	0.0:0.1568:0.8432:0.0	.	741;822	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	T	822;822;822;741	ENSP00000353646:A822T;ENSP00000401118:A822T;ENSP00000368649:A822T;ENSP00000398030:A741T	ENSP00000353646:A822T	A	+	1	0	PLEKHG4	65877699	1.000000	0.71417	0.756000	0.31282	0.953000	0.61014	6.746000	0.74866	2.576000	0.86940	0.561000	0.74099	GCG	PLEKHG4	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000196155		0.557	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	-	0.00	70	0	G	NM_015432		67320198	+1	tier1	-	no_errors	ENST00000360461	ensembl	human	known	74_37	missense	57.23	74	99	SNP	0.997	A
PLEKHG4B	153478	genome.wustl.edu	37	5	156905	156905	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:156905C>T	ENST00000283426.6	+	9	1348	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	433							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTGGAGGCCGCCACAAGCCTG	0.602																																																	0													22.0	18.0	19.0					5																	156905		2188	4282	6470	SO:0001583	missense	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1298C>T	5.37:g.156905C>T	ENSP00000283426:p.Ala433Val			Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A433V	ENST00000283426.6	37	c.1298	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	C	6.843	0.524718	0.13066	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.27402	1.67;3.1	3.87	2.81	0.32909	.	.	.	.	.	T	0.17746	0.0426	L	0.40543	1.245	0.09310	N	1	B	0.30824	0.296	B	0.26310	0.068	T	0.19877	-1.0292	9	0.08381	T	0.77	.	3.9606	0.09409	0.0:0.7445:0.0:0.2555	.	433	Q96PX9	PKH4B_HUMAN	V	433;347	ENSP00000283426:A433V;ENSP00000422493:A347V	ENSP00000283426:A433V	A	+	2	0	PLEKHG4B	209905	0.013000	0.17824	0.004000	0.12327	0.008000	0.06430	1.876000	0.39588	1.712000	0.51347	0.467000	0.42956	GCC	PLEKHG4B	-	NULL	ENSG00000153404		0.602	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	-	0.00	19	0	C	NM_052909		156905	+1	tier1	-	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	18.26	93	21	SNP	0.023	T
PLEKHG4B	153478	genome.wustl.edu	37	5	171525	171525	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:171525A>G	ENST00000283426.6	+	14	2998	c.2948A>G	c.(2947-2949)gAc>gGc	p.D983G		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	983	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CACGGCAATGACCTGCTGGCC	0.657																																																	0													24.0	26.0	26.0					5																	171525		2202	4298	6500	SO:0001583	missense	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2948A>G	5.37:g.171525A>G	ENSP00000283426:p.Asp983Gly			Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D983G	ENST00000283426.6	37	c.2948	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674085	0.67928	.	.	ENSG00000153404	ENST00000283426	T	0.32515	1.45	2.79	2.79	0.32731	Dbl homology (DH) domain (4);	.	.	.	.	T	0.65281	0.2676	H	0.97240	3.965	0.41902	D	0.990429	D	0.89917	1.0	D	0.80764	0.994	T	0.71764	-0.4494	9	0.72032	D	0.01	.	8.6981	0.34310	1.0:0.0:0.0:0.0	.	983	Q96PX9	PKH4B_HUMAN	G	983	ENSP00000283426:D983G	ENSP00000283426:D983G	D	+	2	0	PLEKHG4B	224525	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.538000	0.82048	0.890000	0.36211	0.260000	0.18958	GAC	PLEKHG4B	-	superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000153404		0.657	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	-	0.00	12	0	A	NM_052909		171525	+1	tier1	-	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	23.81	63	20	SNP	1.000	G
PLSCR1	5359	genome.wustl.edu	37	3	146239638	146239640	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	ACA	ACA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:146239638_146239640delACA	ENST00000342435.4	-	6	966_968	c.556_558delTGT	c.(556-558)tgtdel	p.C186del	PLSCR1_ENST00000487389.1_In_Frame_Del_p.C179del|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_In_Frame_Del_p.C105del	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	186	Cys-rich.				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GGCAGCAGGGACAACAACAGCTG	0.433																																																	0																																										SO:0001651	inframe_deletion	0			AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.556_558delTGT	3.37:g.146239644_146239646delACA	ENSP00000345494:p.Cys186del		B2R8H8|B4DTE8	In_Frame_Del	DEL	pfam_Scramblase,superfamily_Tubby_C-like	p.C186in_frame_del	ENST00000342435.4	37	c.558_556	CCDS3135.1	3																																																																																			PLSCR1	-	pfam_Scramblase	ENSG00000188313		0.433	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLSCR1	HGNC	protein_coding	OTTHUMT00000355257.2		0.00	35	0	ACA	NM_021105		146239640	-1	tier1		no_errors	ENST00000342435	ensembl	human	known	74_37	in_frame_del	13.10	73	11	DEL	0.786:0.008:0.108	-
PLXNB1	5364	genome.wustl.edu	37	3	48465484	48465485	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:48465484_48465485insC	ENST00000358536.4	-	3	805_806	c.536_537insG	c.(535-537)ggtfs	p.G179fs	PLXNB1_ENST00000296440.6_Frame_Shift_Ins_p.G179fs|PLXNB1_ENST00000456774.1_Frame_Shift_Ins_p.G179fs|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Frame_Shift_Ins_p.G179fs	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	179	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGGAATGCCACCCCCCACACC	0.673																																																	0																																										SO:0001589	frameshift_variant	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.537dupG	3.37:g.48465490_48465490dupC	ENSP00000351338:p.Gly179fs		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Frame_Shift_Ins	INS	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G180fs	ENST00000358536.4	37	c.537_536	CCDS2765.1	3																																																																																			PLXNB1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000164050		0.673	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1		0.00	11	0	0	NM_002673		48465485	-1			no_errors	ENST00000296440	ensembl	human	known	74_37	frame_shift_ins	33.33	8	4	INS	0.987:1.000	C
PLXNB3	5365	genome.wustl.edu	37	X	153044130	153044130	+	Splice_Site	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:153044130G>A	ENST00000361971.5	+	35	5739		c.e35+1		SRPK3_ENST00000489426.1_Splice_Site|PLXNB3_ENST00000538966.1_Splice_Site|SRPK3_ENST00000370108.3_5'Flank|SRPK3_ENST00000370101.3_5'Flank|SRPK3_ENST00000370100.1_5'Flank|SRPK3_ENST00000370104.1_5'Flank|PLXNB3_ENST00000538776.1_Splice_Site|SRPK3_ENST00000393786.3_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3						axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTATGATCAGGTGAGGCCCAG	0.672																																																	0													55.0	45.0	48.0					X																	153044130		2198	4295	6493	SO:0001630	splice_region_variant	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5625+1G>A	X.37:g.153044130G>A			B7Z3E6|F5H773|Q9HDA4	Splice_Site	SNP	-	e34+1	ENST00000361971.5	37	c.5694+1	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440429	0.43326	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776	.	.	.	4.09	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5712	0.68213	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLXNB3	152697324	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	9.422000	0.97458	2.024000	0.59613	0.517000	0.50305	.	PLXNB3	-	-	ENSG00000198753		0.672	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	-	0.00	18	0	G		Intron	153044130	+1	tier1	-	no_errors	ENST00000538966	ensembl	human	known	74_37	splice_site	82.14	5	23	SNP	1.000	A
PML	5371	genome.wustl.edu	37	15	74335396	74335396	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:74335396C>A	ENST00000268058.3	+	8	1873	c.1777C>A	c.(1777-1779)Ctc>Atc	p.L593I	PML_ENST00000569965.1_3'UTR|PML_ENST00000565898.1_Missense_Mutation_p.L545I|PML_ENST00000564428.1_Missense_Mutation_p.L545I|PML_ENST00000359928.4_3'UTR|PML_ENST00000395135.3_Missense_Mutation_p.L593I	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	593					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCCAGCACCCTCAGGGTCCT	0.552			T	"""RARA, PAX5"""	"""APL, ALL"""																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													101.0	99.0	100.0					15																	74335396		2198	4297	6495	SO:0001583	missense	0			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1777C>A	15.37:g.74335396C>A	ENSP00000268058:p.Leu593Ile		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L593I	ENST00000268058.3	37	c.1777	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627521	0.28978	.	.	ENSG00000140464	ENST00000395135;ENST00000268058;ENST00000417341;ENST00000418568	T	0.66280	-0.2	4.76	1.79	0.24919	.	0.786907	0.10463	N	0.671766	T	0.60830	0.2299	L	0.29908	0.895	0.09310	N	0.999999	D;D;D;D	0.59767	0.976;0.986;0.986;0.986	P;P;P;P	0.60286	0.686;0.782;0.872;0.872	T	0.48422	-0.9037	10	0.62326	D	0.03	-17.7675	4.0611	0.09839	0.1847:0.6192:0.0:0.196	.	593;545;545;593	P29590;P29590-11;P29590-12;P29590-5	PML_HUMAN;.;.;.	I	593;593;154;593	ENSP00000268058:L593I	ENSP00000268058:L593I	L	+	1	0	PML	72122449	0.000000	0.05858	0.010000	0.14722	0.047000	0.14425	0.042000	0.13949	0.221000	0.20879	0.491000	0.48974	CTC	PML	-	NULL	ENSG00000140464		0.552	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	-	0.00	19	0	C	NM_002675		74335396	+1	tier1	-	no_errors	ENST00000268058	ensembl	human	known	74_37	missense	53.85	18	21	SNP	0.014	A
PNKD	25953	genome.wustl.edu	37	2	219135295	219135296	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:219135295_219135296insG	ENST00000273077.4	+	1	88_89	c.37_38insG	c.(37-39)cggfs	p.R13fs	AAMP_ENST00000444053.1_5'Flank|PNKD_ENST00000248451.3_Frame_Shift_Ins_p.R13fs|AAMP_ENST00000420660.1_5'Flank|AAMP_ENST00000248450.4_5'Flank	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	13					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGAAGGGCCGGGGGGCGAGA	0.653																																																	0																																										SO:0001589	frameshift_variant	0				CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.43dupG	2.37:g.219135301_219135301dupG	ENSP00000273077:p.Arg13fs		A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Frame_Shift_Ins	INS	pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase	p.A15fs	ENST00000273077.4	37	c.37_38	CCDS2411.1	2																																																																																			PNKD	-	NULL	ENSG00000127838		0.653	PNKD-001	KNOWN	basic|CCDS	protein_coding	PNKD	HGNC	protein_coding	OTTHUMT00000256775.2		0.00	10	0	-			219135296	+1	tier1		no_errors	ENST00000273077	ensembl	human	known	74_37	frame_shift_ins	25.00	27	9	INS	1.000:1.000	G
POGK	57645	genome.wustl.edu	37	1	166818617	166818617	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:166818617C>T	ENST00000367875.1	+	5	1161	c.801C>T	c.(799-801)gcC>gcT	p.A267A	POGK_ENST00000536514.1_Silent_p.A182A|POGK_ENST00000367876.4_Silent_p.A267A|POGK_ENST00000537173.1_Silent_p.A149A			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	267	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						AGCGTGTGGCCGAATATGTCA	0.582																																					GBM(76;192 1530 30153 48742)												0													38.0	41.0	40.0					1																	166818617		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.801C>T	1.37:g.166818617C>T			Q5TIJ1|Q8TE07	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.A267	ENST00000367875.1	37	c.801	CCDS1254.1	1																																																																																			POGK	-	pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom	ENSG00000143157		0.582	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	POGK	HGNC	protein_coding	OTTHUMT00000082888.1	-	0.00	15	0	C	NM_017542		166818617	+1	tier1	-	no_errors	ENST00000367875	ensembl	human	known	74_37	silent	21.88	25	7	SNP	0.361	T
POLR1C	9533	genome.wustl.edu	37	6	43488100	43488102	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:43488100_43488102delTCC	ENST00000372389.3	+	6	678_680	c.590_592delTCC	c.(589-594)atcctc>atc	p.L198del	POLR1C_ENST00000372344.2_In_Frame_Del_p.L198del|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000304004.3_In_Frame_Del_p.L198del	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	198					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CATGATGATATCCTCATCGCTCA	0.542																																																	0																																										SO:0001651	inframe_deletion	0			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.590_592delTCC	6.37:g.43488100_43488102delTCC	ENSP00000361465:p.Leu198del		O75395|Q5JTE3	In_Frame_Del	DEL	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.L198in_frame_del	ENST00000372389.3	37	c.590_592	CCDS4901.1	6																																																																																			POLR1C	-	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000171453		0.542	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3		0.00	36	0	TCC	NM_004875		43488102	+1	tier1		no_errors	ENST00000372389	ensembl	human	known	74_37	in_frame_del	20.00	28	7	DEL	1.000:1.000:1.000	-
POLRMT	5442	genome.wustl.edu	37	19	621120	621120	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:621120G>A	ENST00000588649.2	-	10	2662	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	860	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCCAGGCGCTTCCGCAGC	0.692																																																	0													28.0	33.0	31.0					19																	621120		2203	4299	6502	SO:0001583	missense	0				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2578C>T	19.37:g.621120G>A	ENSP00000465759:p.Arg860Cys		O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.R860C	ENST00000588649.2	37	c.2578	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	13.47	2.247739	0.39697	.	.	ENSG00000099821	ENST00000215591	T	0.61274	0.12	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.82918	-0.0219	10	0.87932	D	0	-39.4919	11.4198	0.49974	0.0:0.0:0.8195:0.1805	.	860	O00411	RPOM_HUMAN	C	860	ENSP00000215591:R860C	ENSP00000215591:R860C	R	-	1	0	POLRMT	572120	1.000000	0.71417	0.400000	0.26346	0.003000	0.03518	3.477000	0.53151	2.283000	0.76528	0.455000	0.32223	CGC	POLRMT	-	pfam_DNA-dir_Rpol_phage-type	ENSG00000099821		0.692	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	-	0.00	36	0	G	NM_005035		621120	-1	tier1	-	no_errors	ENST00000588649	ensembl	human	known	74_37	missense	41.41	57	41	SNP	0.981	A
POMGNT1	55624	genome.wustl.edu	37	1	46659217	46659217	+	Intron	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:46659217delC	ENST00000371984.3	-	11	1184				POMGNT1_ENST00000371986.3_Intron|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Intron|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Intron	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)						protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACCCGAGGCACCCCCCAAGTC	0.582																																																	0													62.0	62.0	62.0					1																	46659217		2203	4300	6503	SO:0001627	intron_variant	0				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1026+18G>-	1.37:g.46659217delC			D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	RNA	DEL	-	NULL	ENST00000371984.3	37	NULL	CCDS531.1	1																																																																																			POMGNT1	-	-	ENSG00000085998		0.582	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT1	HGNC	protein_coding	OTTHUMT00000020146.1		0.00	16	0	C	NM_017739		46659217	-1	tier1		no_errors	ENST00000477114	ensembl	human	known	74_37	rna	18.75	26	6	DEL	0.015	-
POMP	51371	genome.wustl.edu	37	13	29238658	29238658	+	Silent	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:29238658G>T	ENST00000380842.4	+	3	195	c.114G>T	c.(112-114)gtG>gtT	p.V38V	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	38					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TTTCTTGTGTGAAAAATGAAC	0.274																																																	0													30.0	34.0	32.0					13																	29238658		2195	4291	6486	SO:0001819	synonymous_variant	0			AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"""proteassemblin"""	613386	"""chromosome 13 open reading frame 12"""	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.114G>T	13.37:g.29238658G>T			A5HKJ2|D6MXU3|Q9HB69	Silent	SNP	pfam_UMP1	p.V38	ENST00000380842.4	37	c.114	CCDS9331.1	13																																																																																			POMP	-	pfam_UMP1	ENSG00000132963		0.274	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMP	HGNC	protein_coding	OTTHUMT00000044327.1	-	0.00	31	0	G	NM_015932		29238658	+1	tier1	-	no_errors	ENST00000380842	ensembl	human	known	74_37	silent	42.22	26	19	SNP	1.000	T
POR	5447	genome.wustl.edu	37	7	75609955	75609955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:75609955delC	ENST00000450476.1	+	1	138	c.128delC	c.(127-129)gccfs	p.A43fs	POR_ENST00000439269.1_5'Flank|POR_ENST00000461988.1_Intron|POR_ENST00000394893.1_Intron|POR_ENST00000545601.1_Intron|POR_ENST00000419840.1_Intron			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	378					carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CTCTCCTCTGCCCCAGACCCC	0.632																																																	0																																										SO:0001589	frameshift_variant	0			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000450476.1:c.128delC	7.37:g.75609955delC	ENSP00000416572:p.Ala43fs		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Frame_Shift_Del	DEL	pfam_FAD-binding_1,pfam_OxRdtase_FAD/NAD-bd,pfam_Flavodoxin/NO_synth,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.P44fs	ENST00000450476.1	37	c.128		7																																																																																			POR	-	pfscan_Flavodoxin/NO_synth	ENSG00000127948		0.632	POR-202	KNOWN	basic	protein_coding	POR	HGNC	protein_coding			0.00	24	0	C	NM_000941		75609955	+1	tier1		no_errors	ENST00000450476	ensembl	human	known	74_37	frame_shift_del	30.30	23	10	DEL	0.424	-
POTEM	641455	genome.wustl.edu	37	14	20002279	20002279	+	Silent	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:20002279C>A	ENST00000551509.1	-	7	1194	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	381										endometrium(4)|kidney(1)|lung(4)	9						CCTCTGATGTCAGCTTTAAGT	0.313																																																	0																																										SO:0001819	synonymous_variant	0				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.1143G>T	14.37:g.20002279C>A				Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L381	ENST00000551509.1	37	c.1143	CCDS45076.1	14																																																																																			POTEM	-	NULL	ENSG00000187537		0.313	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	-	0.00	80	0	C	NM_001145442		20002279	-1	tier1	-	no_errors	ENST00000547848	ensembl	human	known	74_37	silent	21.28	148	40	SNP	0.041	A
POU2F1	5451	genome.wustl.edu	37	1	167385179	167385180	+	3'UTR	DEL	AA	AA	-	rs398053500|rs572687241	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:167385179_167385180delAA	ENST00000541643.3	+	0	2526_2527				POU2F1_ENST00000367862.5_3'UTR|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367866.2_3'UTR			P14859	PO2F1_HUMAN	POU class 2 homeobox 1						gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GAGAAGGGAGAAAAAAAAAAAA	0.406																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.*133AA>-	1.37:g.167385189_167385190delAA			B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	RNA	DEL	-	NULL	ENST00000541643.3	37	NULL		1																																																																																			POU2F1	-	-	ENSG00000143190		0.406	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	POU2F1	HGNC	protein_coding			0.00	40	0	AA	NM_002697		167385180	+1	tier1		no_errors	ENST00000367865	ensembl	human	known	74_37	rna	17.86	46	10	DEL	0.090:0.002	-
POU3F2	5454	genome.wustl.edu	37	6	99283509	99283509	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:99283509G>A	ENST00000328345.5	+	1	930	c.760G>A	c.(760-762)Gcg>Acg	p.A254T		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	254					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CCACCCAGGCGCGCACCACGA	0.711																																																	0													34.0	39.0	37.0					6																	99283509		2203	4297	6500	SO:0001583	missense	0			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.760G>A	6.37:g.99283509G>A	ENSP00000329170:p.Ala254Thr		Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A254T	ENST00000328345.5	37	c.760	CCDS5040.1	6	.	.	.	.	.	.	.	.	.	.	G	8.051	0.766101	0.15983	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	D	0.85411	-1.98	3.82	2.9	0.33743	.	0.563063	0.16057	U	0.231646	T	0.48642	0.1511	N	0.14661	0.345	0.28921	N	0.892105	P	0.39665	0.682	B	0.23275	0.045	T	0.43048	-0.9415	10	0.13470	T	0.59	.	13.3158	0.60407	0.0:0.1758:0.8242:0.0	.	254	P20265	PO3F2_HUMAN	T	254;187	ENSP00000329170:A254T	ENSP00000329170:A254T	A	+	1	0	POU3F2	99390230	0.995000	0.38212	1.000000	0.80357	0.944000	0.59088	0.000000	0.12993	1.958000	0.56883	0.305000	0.20034	GCG	POU3F2	-	pirsf_Transcription_factor_POU	ENSG00000184486		0.711	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F2	HGNC	protein_coding	OTTHUMT00000041586.2		0.00	21	0	G			99283509	+1			no_errors	ENST00000328345	ensembl	human	known	74_37	missense	38.71	19	12	SNP	0.963	A
POU3F4	5456	genome.wustl.edu	37	X	82763400	82763400	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:82763400C>T	ENST00000373200.2	+	1	132	c.68C>T	c.(67-69)gCg>gTg	p.A23V	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	23					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCGGACTCTGCGGGCATGCAG	0.557																																																	0													60.0	44.0	49.0					X																	82763400		2203	4300	6503	SO:0001583	missense	0			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.68C>T	X.37:g.82763400C>T	ENSP00000362296:p.Ala23Val		B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A23V	ENST00000373200.2	37	c.68	CCDS14450.1	X	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507926	0.27036	.	.	ENSG00000196767	ENST00000373200	D	0.85339	-1.97	4.46	2.68	0.31781	.	0.780519	0.12106	N	0.499023	T	0.77512	0.4141	L	0.43152	1.355	0.30531	N	0.767442	B	0.30439	0.279	B	0.17979	0.02	T	0.71434	-0.4594	10	0.56958	D	0.05	.	8.8464	0.35172	0.0:0.8059:0.0:0.1941	.	23	P49335	PO3F4_HUMAN	V	23	ENSP00000362296:A23V	ENSP00000362296:A23V	A	+	2	0	POU3F4	82650056	1.000000	0.71417	0.784000	0.31847	0.815000	0.46073	2.100000	0.41777	0.441000	0.26529	-0.196000	0.12772	GCG	POU3F4	-	pirsf_Transcription_factor_POU	ENSG00000196767		0.557	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F4	HGNC	protein_coding	OTTHUMT00000057368.2	-	0.00	22	0	C	NM_000307		82763400	+1	tier1	-	no_errors	ENST00000373200	ensembl	human	known	74_37	missense	51.06	23	24	SNP	0.998	T
POU5F2	134187	genome.wustl.edu	37	5	93076993	93076993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:93076993G>A	ENST00000510627.4	-	1	350	c.277C>T	c.(277-279)Cga>Tga	p.R93*	POU5F2_ENST00000606183.1_5'Flank|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	93					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GAGGGGCGTCGCAACCAGTCC	0.652																																																	0													22.0	24.0	24.0					5																	93076993		1882	4108	5990	SO:0001587	stop_gained	0				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.277C>T	5.37:g.93076993G>A	ENSP00000464890:p.Arg93*		Q15169|Q6MZL7|Q8N748	Nonsense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.R93*	ENST00000510627.4	37	c.277	CCDS59489.1	5																																																																																			POU5F2	-	NULL	ENSG00000248483		0.652	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	-	0.00	22	0	G	NM_153216		93076993	-1	tier1	-	no_errors	ENST00000510627	ensembl	human	known	74_37	nonsense	75.00	7	21	SNP	0.002	A
PPFIA2	8499	genome.wustl.edu	37	12	81671195	81671195	+	Splice_Site	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:81671195delT	ENST00000549396.1	-	28	3373		c.e28-2		PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000333447.7_Frame_Shift_Del_p.R1059fs|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|RP11-121G22.3_ENST00000549161.1_lincRNA	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAACTTGTTCtttttttttta	0.333																																																	0									,,,,,,,,	31,81,3200		1,0,29,4,73,1549	43.0	38.0	40.0		,,,,,,,,	5.7	1.0	12		43	81,103,7316		0,0,81,6,91,3572	no	splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3	PPFIA2	NM_003625.3,NM_001220480.1,NM_001220479.1,NM_001220478.1,NM_001220477.1,NM_001220476.1,NM_001220475.1,NM_001220474.1,NM_001220473.1	,,,,,,,,	1,0,110,10,164,5121	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4533,3.3816,2.7377	,,,,,,,,	,,,,,,,,	81671195	112,184,10516	1760	4021	5781	SO:0001630	splice_region_variant	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3213-2A>-	12.37:g.81671195delT			B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_tRNA-bd_arm,smart_SAM,pfscan_SAM	p.R1059fs	ENST00000549396.1	37	c.3175	CCDS55857.1	12																																																																																			PPFIA2	-	superfamily_SAM/pointed,smart_SAM	ENSG00000139220		0.333	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1		0.00	27	0	T		Intron	81671195	-1	tier1		no_errors	ENST00000333447	ensembl	human	known	74_37	frame_shift_del	20.83	19	5	DEL	1.000	-
PPFIA4	8497	genome.wustl.edu	37	1	203008166	203008166	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:203008166delG	ENST00000447715.2	+	6	471	c.30delG	c.(28-30)gagfs	p.E10fs	PPFIA4_ENST00000367240.2_Frame_Shift_Del_p.E10fs|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	10					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CAATCAATGAGGGGGACCGCC	0.632											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													8.0	8.0	8.0					1																	203008166		868	1971	2839	SO:0001589	frameshift_variant	0			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.30delG	1.37:g.203008166delG	ENSP00000402576:p.Glu10fs	2133	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM	p.D12fs	ENST00000447715.2	37	c.30		1																																																																																			PPFIA4	-	NULL	ENSG00000143847		0.632	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	PPFIA4	HGNC	protein_coding	OTTHUMT00000462949.1		0.00	21	0	G	NM_015053		203008166	+1	tier1		no_errors	ENST00000367240	ensembl	human	novel	74_37	frame_shift_del	25.64	29	10	DEL	1.000	-
PPM1F	9647	genome.wustl.edu	37	22	22287853	22287853	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:22287853G>A	ENST00000263212.5	-	5	762	c.657C>T	c.(655-657)cgC>cgT	p.R219R	PPM1F_ENST00000407142.1_Silent_p.R51R|PPM1F_ENST00000538191.1_Silent_p.R115R|PPM1F_ENST00000397495.4_Silent_p.R219R	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	219					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GCTCTGGCTGGCGGGCAGCGT	0.627																																																	0													62.0	55.0	57.0					22																	22287853		2203	4300	6503	SO:0001819	synonymous_variant	0			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.657C>T	22.37:g.22287853G>A			A8K6G3|B7Z2C3|Q96PM2	Silent	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.R219	ENST00000263212.5	37	c.657	CCDS13796.1	22																																																																																			PPM1F	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000100034		0.627	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	HGNC	protein_coding	OTTHUMT00000320267.2	-	0.00	21	0	G	NM_014634		22287853	-1	tier1	-	no_errors	ENST00000263212	ensembl	human	known	74_37	silent	47.92	25	23	SNP	0.093	A
PPP1R12B	4660	genome.wustl.edu	37	1	202407190	202407190	+	Intron	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:202407190delT	ENST00000608999.1	+	10	1611				PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000480184.1_Frame_Shift_Del_p.V499fs|PPP1R12B_ENST00000356764.2_3'UTR|RP11-175B9.2_ENST00000602961.1_RNA	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCAAGGCAGTTTTTTTTTTC	0.388																																																	0									,,	92,128,3982		2,0,88,2,124,1885	28.0	30.0	30.0		,,	1.9	0.0	1		31	174,230,7838		0,1,173,13,203,3731	no	intron,utr-3,codingComplex	PPP1R12B	NM_002481.3,NM_001167858.1,NM_001167857.1	,,	2,1,261,15,327,5616	A1A1,A1A2,A1R,A2A2,A2R,RR		4.9017,5.2356,5.0145	,,	,,	202407190	266,358,11820	2202	4300	6502	SO:0001627	intron_variant	0			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+38T>-	1.37:g.202407190delT			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F502fs	ENST00000608999.1	37	c.1496	CCDS1426.1	1																																																																																			PPP1R12B	-	NULL	ENSG00000077157		0.388	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3		0.00	17	0	T	NM_032105		202407190	+1			no_errors	ENST00000480184	ensembl	human	novel	74_37	frame_shift_del	38.46	8	5	DEL	0.041	0
PPP1R21	129285	genome.wustl.edu	37	2	48686995	48686995	+	Missense_Mutation	SNP	G	G	A	rs142054593		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:48686995G>A	ENST00000294952.8	+	5	635	c.478G>A	c.(478-480)Ggt>Agt	p.G160S	PPP1R21_ENST00000449090.2_Missense_Mutation_p.G160S|PPP1R21_ENST00000281394.4_Missense_Mutation_p.G160S	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	160						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TGTGGTTGACGGTCTCACCCG	0.498																																																	0								G	SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	81.0	76.0	78.0		478,478,478	5.6	1.0	2	dbSNP_134	78	0,8600		0,0,4300	yes	missense,missense,missense	KLRAQ1	NM_001135629.2,NM_001193475.1,NM_152994.4	56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	160/781,160/739,160/770	48686995	1,13005	2203	4300	6503	SO:0001583	missense	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.478G>A	2.37:g.48686995G>A	ENSP00000294952:p.Gly160Ser		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF	p.G160S	ENST00000294952.8	37	c.478	CCDS46278.1	2	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994550	0.54041	2.27E-4	0.0	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.56	5.56	0.83823	.	0.199237	0.53938	D	0.000047	T	0.35335	0.0928	N	0.12182	0.205	0.51233	D	0.999911	B;B;B;B;B	0.25007	0.07;0.07;0.116;0.03;0.003	B;B;B;B;B	0.15484	0.003;0.012;0.013;0.008;0.005	T	0.23976	-1.0173	9	0.09338	T	0.73	-13.277	13.6027	0.62029	0.0808:0.0:0.9192:0.0	.	160;160;160;160;160	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	S	160	.	ENSP00000281394:G160S	G	+	1	0	KLRAQ1	48540499	1.000000	0.71417	0.995000	0.50966	0.631000	0.37964	5.628000	0.67791	2.778000	0.95560	0.591000	0.81541	GGT	PPP1R21	-	NULL	ENSG00000162869		0.498	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	-	0.00	25	0	G	NM_152994		48686995	+1	tier1	rs142054593	no_errors	ENST00000294952	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	A
PRAM1	84106	genome.wustl.edu	37	19	8563644	8563644	+	Missense_Mutation	SNP	G	G	A	rs369144041		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:8563644G>A	ENST00000423345.4	-	2	1568	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	PRAM1_ENST00000255612.3_Missense_Mutation_p.R350C			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	398	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGCCCCCGGCGCTCCGGCTGC	0.672																																																	0													5.0	7.0	6.0					19																	8563644		2008	4123	6131	SO:0001583	missense	0			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1048C>T	19.37:g.8563644G>A	ENSP00000408342:p.Arg350Cys		Q8N6W7	Missense_Mutation	SNP	superfamily_SH3_domain	p.R350C	ENST00000423345.4	37	c.1048	CCDS45954.2	19	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234131	0.22626	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.14022	2.54;2.54	4.51	-9.01	0.00744	.	1.072590	0.07279	N	0.870480	T	0.02767	0.0083	N	0.00237	-1.79	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.04013	0.001;0.001	T	0.54397	-0.8300	10	0.66056	D	0.02	.	10.1395	0.42728	0.1731:0.3942:0.4327:0.0	.	350;398	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	C	350	ENSP00000255612:R350C;ENSP00000408342:R350C	ENSP00000255612:R350C	R	-	1	0	PRAM1	8469644	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.637000	0.00407	-1.786000	0.01269	-1.202000	0.01658	CGC	PRAM1	-	NULL	ENSG00000133246		0.672	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAM1	HGNC	protein_coding	OTTHUMT00000397040.3	-	0.00	46	0	G	NM_032152		8563644	-1	tier1	-	no_errors	ENST00000423345	ensembl	human	known	74_37	missense	33.80	47	24	SNP	0.000	A
PRDM1	639	genome.wustl.edu	37	6	106553730	106553730	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:106553730G>A	ENST00000369096.4	+	5	1929	c.1695G>A	c.(1693-1695)ccG>ccA	p.P565P	PRDM1_ENST00000369089.3_Silent_p.P431P|PRDM1_ENST00000369091.2_Silent_p.P529P	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	565	Interaction with PIAS1.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TTCCCTACCCGCTGAAGAAGC	0.517			"""D, N, Mis, F, S"""		DLBCL																																			Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											61.0	58.0	59.0					6																	106553730		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1695G>A	6.37:g.106553730G>A			B2REA6|E1P5E0|Q86WM7	Silent	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.P565	ENST00000369096.4	37	c.1695	CCDS5054.2	6																																																																																			PRDM1	-	pirsf_Znf_PRDM1	ENSG00000057657		0.517	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3	-	0.00	15	0	G			106553730	+1	tier1	-	no_errors	ENST00000369096	ensembl	human	known	74_37	silent	33.33	17	9	SNP	0.157	A
PRDM10	56980	genome.wustl.edu	37	11	129812346	129812346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:129812346delT	ENST00000360871.3	-	7	1172	c.941delA	c.(940-942)aatfs	p.N314fs	PRDM10_ENST00000528746.1_Frame_Shift_Del_p.N288fs|PRDM10_ENST00000304538.6_Frame_Shift_Del_p.N228fs|PRDM10_ENST00000423662.2_Frame_Shift_Del_p.N228fs|PRDM10_ENST00000526082.1_Frame_Shift_Del_p.N228fs|PRDM10_ENST00000358825.5_Frame_Shift_Del_p.N314fs	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	314	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)	p.N314T(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGGCTCCACATTTTTTATGGT	0.458																																																	1	Substitution - Missense(1)	breast(1)											76.0	78.0	77.0					11																	129812346		2201	4297	6498	SO:0001589	frameshift_variant	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.941delA	11.37:g.129812346delT	ENSP00000354118:p.Asn314fs		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N314fs	ENST00000360871.3	37	c.941	CCDS8484.1	11																																																																																			PRDM10	-	NULL	ENSG00000170325		0.458	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1		0.00	61	0	T	NM_199437		129812346	-1	tier1		no_errors	ENST00000358825	ensembl	human	known	74_37	frame_shift_del	40.00	48	32	DEL	0.999	-
PRG2	5553	genome.wustl.edu	37	11	57155247	57155247	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:57155247C>T	ENST00000311862.5	-	5	663	c.590G>A	c.(589-591)tGc>tAc	p.C197Y	PRG2_ENST00000525955.1_Missense_Mutation_p.C197Y|PRG2_ENST00000533605.1_Missense_Mutation_p.C186Y	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	197	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	CAGGGCCACGCAGTGACCACC	0.612																																																	0													20.0	21.0	21.0					11																	57155247		2199	4293	6492	SO:0001583	missense	0			BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.590G>A	11.37:g.57155247C>T	ENSP00000312134:p.Cys197Tyr		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic	p.C197Y	ENST00000311862.5	37	c.590	CCDS7955.1	11	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795303	0.70452	.	.	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.61980	0.06;0.06;0.06	4.98	4.98	0.66077	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.51477	D	0.000090	D	0.87055	0.6082	H	0.98738	4.315	0.45477	D	0.998444	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.91663	0.5344	10	0.72032	D	0.01	.	13.746	0.62876	0.0:1.0:0.0:0.0	.	186;197	A6XMW0;P13727	.;PRG2_HUMAN	Y	197;186;197	ENSP00000312134:C197Y;ENSP00000433231:C186Y;ENSP00000433016:C197Y	ENSP00000312134:C197Y	C	-	2	0	PRG2	56911823	0.753000	0.28349	0.824000	0.32777	0.015000	0.08874	3.537000	0.53590	2.287000	0.76781	0.650000	0.86243	TGC	PRG2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic	ENSG00000186652		0.612	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRG2	HGNC	protein_coding	OTTHUMT00000392468.1		0.00	57	0	C	NM_002728		57155247	-1			no_errors	ENST00000311862	ensembl	human	known	74_37	missense	7.89	70	6	SNP	0.955	T
PRICKLE2	166336	genome.wustl.edu	37	3	64184686	64184686	+	Intron	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:64184686delT	ENST00000295902.6	-	2	546				PRICKLE2_ENST00000564377.1_Intron|PRICKLE2-AS3_ENST00000473434.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)						establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGAAAAAACCTTTTTTTTTTT	0.517																																																	0																																										SO:0001627	intron_variant	0			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.40-43A>-	3.37:g.64184686delT			Q0VF44	RNA	DEL	-	NULL	ENST00000295902.6	37	NULL	CCDS2902.1	3																																																																																			PRICKLE2-AS3	-	-	ENSG00000226017		0.517	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2-AS3	HGNC	protein_coding	OTTHUMT00000352219.1		0.00	9	0	T	NM_198859		64184686	+1	tier1		no_errors	ENST00000473434	ensembl	human	known	74_37	rna	30.77	9	4	DEL	0.222	-
PRKACA	5566	genome.wustl.edu	37	19	14208488	14208488	+	Splice_Site	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:14208488T>C	ENST00000308677.4	-	7	743		c.e7-2		PRKACA_ENST00000589994.1_Splice_Site|PRKACA_ENST00000350356.3_Splice_Site|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GTCTGTCACCTGTGGGCACAA	0.637																																																	0													54.0	58.0	57.0					19																	14208488		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.547-2A>G	19.37:g.14208488T>C			Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Splice_Site	SNP	-	e7-2	ENST00000308677.4	37	c.547-2	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	T	19.36	3.812781	0.70912	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0515	0.53509	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKACA	14069488	0.998000	0.40836	0.991000	0.47740	0.849000	0.48306	3.344000	0.52174	1.734000	0.51633	0.472000	0.43445	.	PRKACA	-	-	ENSG00000072062		0.637	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACA	HGNC	protein_coding	OTTHUMT00000459004.1	-	0.00	32	0	T	NM_002730	Intron	14208488	-1	tier1	-	no_errors	ENST00000308677	ensembl	human	known	74_37	splice_site	40.62	38	26	SNP	1.000	C
PRKCI	5584	genome.wustl.edu	37	3	169988209	169988209	+	Splice_Site	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:169988209C>T	ENST00000295797.4	+	6	756	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	151	Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CTCTTTTCAGCGTGCTCACTG	0.413																																																	0													89.0	84.0	86.0					3																	169988209		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.451-1C>T	3.37:g.169988209C>T			D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R151C	ENST00000295797.4	37	c.451	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558461	0.65538	.	.	ENSG00000163558	ENST00000295797	D	0.92699	-3.09	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.95743	0.8615	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.95564	0.8632	9	.	.	.	.	14.9583	0.71135	0.21:0.7899:0.0:0.0	.	151	P41743	KPCI_HUMAN	C	151	ENSP00000295797:R151C	.	R	+	1	0	PRKCI	171470903	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	3.205000	0.51090	2.695000	0.91970	0.591000	0.81541	CGT	PRKCI	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd	ENSG00000163558		0.413	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	-	0.00	21	0	C	NM_002740	Missense_Mutation	169988209	+1	tier1	-	no_errors	ENST00000295797	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	T
PRKDC	5591	genome.wustl.edu	37	8	48805866	48805866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:48805866delC	ENST00000314191.2	-	31	3736	c.3680delG	c.(3679-3681)ggtfs	p.G1228fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.G1228fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1228					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCCACAGCCACCCCCCTCAAA	0.542								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													31.0	32.0	32.0					8																	48805866		1872	4095	5967	SO:0001589	frameshift_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3680delG	8.37:g.48805866delC	ENSP00000313420:p.Gly1228fs		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G1227fs	ENST00000314191.2	37	c.3680		8																																																																																			PRKDC	-	NULL	ENSG00000253729		0.542	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding			0.00	51	0	C	NM_001081640		48805866	-1	tier1		no_errors	ENST00000314191	ensembl	human	known	74_37	frame_shift_del	19.48	186	45	DEL	0.938	-
PRNP	5621	genome.wustl.edu	37	20	4679939	4679939	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:4679939C>T	ENST00000379440.4	+	2	360	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	PRNP_ENST00000430350.2_Missense_Mutation_p.R25C	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0	Trp-rich.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						CTGCAAGAAGCGCCCGAAGCC	0.627																																																	0													40.0	50.0	47.0					20																	4679939		2201	4300	6501	SO:0001583	missense	0			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.73C>T	20.37:g.4679939C>T	ENSP00000368752:p.Arg25Cys			Missense_Mutation	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion	p.R25C	ENST00000379440.4	37	c.73	CCDS13080.1	20	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029230	0.75504	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000457586	D;D;D;D	0.95853	-2.76;-2.76;-2.99;-3.83	5.02	5.02	0.67125	.	0.329036	0.25037	N	0.033632	D	0.96728	0.8932	L	0.54323	1.7	0.46586	D	0.999118	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.91635	0.999;0.982;0.761	D	0.96972	0.9709	10	0.87932	D	0	-1.4596	14.1892	0.65628	0.0:1.0:0.0:0.0	.	25;25;25	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	C	25	ENSP00000368752:R25C;ENSP00000399376:R25C;ENSP00000411599:R25C;ENSP00000415284:R25C	ENSP00000368752:R25C	R	+	1	0	PRNP	4627939	0.999000	0.42202	0.997000	0.53966	0.962000	0.63368	2.192000	0.42649	2.496000	0.84212	0.655000	0.94253	CGC	PRNP	-	pfam_Prion_N_dom,smart_Prion	ENSG00000171867		0.627	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRNP	HGNC	protein_coding	OTTHUMT00000077820.2	-	0.00	19	0	C	NM_000311		4679939	+1	tier1	-	no_errors	ENST00000379440	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.998	T
PRR11	55771	genome.wustl.edu	37	17	57247171	57247171	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:57247171delA	ENST00000262293.4	+	2	370	c.58delA	c.(58-60)aaafs	p.K22fs		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	22						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E23fs*9(3)|p.E23fs*46(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AAGATTATTCAAAAAAAAAGA	0.363																																																	4	Deletion - Frameshift(3)|Insertion - Frameshift(1)	large_intestine(2)|ovary(1)|lung(1)											79.0	79.0	79.0					17																	57247171		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.58delA	17.37:g.57247171delA	ENSP00000262293:p.Lys22fs		Q9NUZ7|Q9NXE9	Frame_Shift_Del	DEL	NULL	p.E23fs	ENST00000262293.4	37	c.58	CCDS11614.1	17																																																																																			PRR11	-	NULL	ENSG00000068489		0.363	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR11	HGNC	protein_coding	OTTHUMT00000445949.1		0.00	22	0	A	NM_018304		57247171	+1	tier1		no_errors	ENST00000262293	ensembl	human	known	74_37	frame_shift_del	67.86	9	19	DEL	0.749	-
PRR5L	79899	genome.wustl.edu	37	11	36485195	36485196	+	3'UTR	DEL	AA	AA	-	rs200390084	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:36485195_36485196delAA	ENST00000378867.3	+	0	2371_2372				PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like						negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						TGTATCGTTTAAAAAAAAAAAT	0.391																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.*910AA>-	11.37:g.36485203_36485204delAA			A4QN22|E9PKY1|Q96H46|Q9H7V4	RNA	DEL	-	NULL	ENST00000378867.3	37	NULL	CCDS31463.1	11																																																																																			PRR5L	-	-	ENSG00000135362		0.391	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1		0.00	16	0	AA	NM_024841		36485196	+1	tier1		no_errors	ENST00000389693	ensembl	human	known	74_37	rna	61.11	7	11	DEL	0.022:0.017	-
PRRC2B	84726	genome.wustl.edu	37	9	134350640	134350640	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:134350640delC	ENST00000357304.4	+	15	3179	c.3124delC	c.(3124-3126)cccfs	p.P1043fs	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1043							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGCGATGTTCCCCCCATGAA	0.572																																																	0													31.0	35.0	34.0					9																	134350640		1898	4119	6017	SO:0001589	frameshift_variant	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3124delC	9.37:g.134350640delC	ENSP00000349856:p.Pro1043fs		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Frame_Shift_Del	DEL	pfam_BAT2_N	p.M1044fs	ENST00000357304.4	37	c.3124	CCDS48044.1	9																																																																																			PRRC2B	-	NULL	ENSG00000130723		0.572	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding			0.00	14	0	C			134350640	+1	tier1		no_errors	ENST00000357304	ensembl	human	known	74_37	frame_shift_del	62.50	6	10	DEL	0.992	-
PRRC2B	84726	genome.wustl.edu	37	9	134351550	134351551	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:134351550_134351551delTG	ENST00000357304.4	+	15	4089_4090	c.4034_4035delTG	c.(4033-4035)ctgfs	p.L1345fs	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1345							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGGCCCAAACTGTGTTCTGGGG	0.673											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4034_4035delTG	9.37:g.134351552_134351553delTG	ENSP00000349856:p.Leu1345fs	1610	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Frame_Shift_Del	DEL	pfam_BAT2_N	p.C1346fs	ENST00000357304.4	37	c.4034_4035	CCDS48044.1	9																																																																																			PRRC2B	-	NULL	ENSG00000130723		0.673	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding			0.00	19	0	TG			134351551	+1	tier1		no_errors	ENST00000357304	ensembl	human	known	74_37	frame_shift_del	12.82	34	5	DEL	0.295:0.237	-
PRSS36	146547	genome.wustl.edu	37	16	31150582	31150582	+	Silent	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:31150582G>T	ENST00000268281.4	-	15	2503	c.2445C>A	c.(2443-2445)ccC>ccA	p.P815P	PRSS36_ENST00000569305.1_Silent_p.P810P|PRSS36_ENST00000418068.2_Silent_p.P712P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	815						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGGAGCCACTGGGGGGCAGGA	0.637																																																	0													34.0	36.0	35.0					16																	31150582		2197	4300	6497	SO:0001819	synonymous_variant	0			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2445C>A	16.37:g.31150582G>T			A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Silent	SNP	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.P815	ENST00000268281.4	37	c.2445	CCDS32436.1	16																																																																																			PRSS36	-	pirsf_Pept_S1A_polyserase-2	ENSG00000178226		0.637	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1	-	0.00	20	0	G	NM_173502		31150582	-1	tier1	-	no_errors	ENST00000268281	ensembl	human	known	74_37	silent	25.64	29	10	SNP	0.000	T
PRSS36	146547	genome.wustl.edu	37	16	31151942	31151942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:31151942delG	ENST00000268281.4	-	13	2096	c.2038delC	c.(2038-2040)ctgfs	p.L680fs	PRSS36_ENST00000569305.1_Frame_Shift_Del_p.L675fs|PRSS36_ENST00000418068.2_Intron	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	680	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGGAGGGCCAGGGGGGGCCTG	0.726																																																	0													15.0	20.0	19.0					16																	31151942		2194	4288	6482	SO:0001589	frameshift_variant	0			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2038delC	16.37:g.31151942delG	ENSP00000268281:p.Leu680fs		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Frame_Shift_Del	DEL	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.L680fs	ENST00000268281.4	37	c.2038	CCDS32436.1	16																																																																																			PRSS36	-	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178226		0.726	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1		0.00	16	0	G	NM_173502		31151942	-1	tier1		no_errors	ENST00000268281	ensembl	human	known	74_37	frame_shift_del	20.83	19	5	DEL	0.448	-
PRTG	283659	genome.wustl.edu	37	15	55965576	55965576	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:55965576G>A	ENST00000389286.4	-	10	1892	c.1845C>T	c.(1843-1845)agC>agT	p.S615S		NM_173814.4	NP_776175.2			protogenin									p.S615S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CACCTTTCACGCTTGTAGCTT	0.378																																																	1	Substitution - coding silent(1)	large_intestine(1)											54.0	53.0	53.0					15																	55965576		1855	4099	5954	SO:0001819	synonymous_variant	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1845C>T	15.37:g.55965576G>A				Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S615	ENST00000389286.4	37	c.1845	CCDS42040.1	15																																																																																			PRTG	-	pfscan_Fibronectin_type3	ENSG00000166450		0.378	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	-	0.00	24	0	G	NM_173814		55965576	-1	tier1	-	no_errors	ENST00000389286	ensembl	human	known	74_37	silent	48.65	19	18	SNP	0.935	A
PSIP1	11168	genome.wustl.edu	37	9	15472612	15472612	+	Intron	DEL	A	A	-	rs201263257		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:15472612delA	ENST00000380733.4	-	10	1321				PSIP1_ENST00000380715.1_Intron|PSIP1_ENST00000397519.2_Intron|PSIP1_ENST00000380738.4_Intron|PSIP1_ENST00000380716.4_Intron			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CAAAATTTAGAAAAAAAAAAA	0.343																																																	0													81.0	78.0	79.0					9																	15472612		2202	4297	6499	SO:0001627	intron_variant	0			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.977+17T>-	9.37:g.15472612delA			D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	RNA	DEL	-	NULL	ENST00000380733.4	37	NULL	CCDS6479.1	9																																																																																			PSIP1	-	-	ENSG00000164985		0.343	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	HGNC	protein_coding	OTTHUMT00000055445.1		0.00	28	0	A	NM_033222		15472612	-1	tier1		no_errors	ENST00000495873	ensembl	human	known	74_37	rna	68.09	15	32	DEL	0.001	-
PSMD1	5707	genome.wustl.edu	37	2	231931656	231931656	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:231931656A>G	ENST00000308696.6	+	5	503	c.341A>G	c.(340-342)gAa>gGa	p.E114G	PSMD1_ENST00000409643.1_Missense_Mutation_p.E114G|PSMD1_ENST00000373635.4_Missense_Mutation_p.E114G	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	114					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 protein catabolic process (GO:0042176)|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 accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CAATGTGTGGAAAATGCAGAT	0.358																																																	0													60.0	52.0	55.0					2																	231931656		2203	4300	6503	SO:0001583	missense	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.341A>G	2.37:g.231931656A>G	ENSP00000309474:p.Glu114Gly		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.E114G	ENST00000308696.6	37	c.341	CCDS2482.1	2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461880	0.84425	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.46451	0.87;0.87;0.87	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	L	0.52126	1.63	0.80722	D	1	B;B	0.31485	0.215;0.325	B;B	0.26416	0.065;0.069	T	0.18903	-1.0322	10	0.38643	T	0.18	-17.0996	15.5874	0.76495	1.0:0.0:0.0:0.0	.	114;114	Q99460;Q99460-2	PSMD1_HUMAN;.	G	114;114;120;114	ENSP00000309474:E114G;ENSP00000362738:E114G;ENSP00000386932:E114G	ENSP00000309474:E114G	E	+	2	0	PSMD1	231639900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.073000	0.62155	0.482000	0.46254	GAA	PSMD1	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	ENSG00000173692		0.358	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	-	0.00	24	0	A			231931656	+1	tier1	-	no_errors	ENST00000308696	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	G
PSMD12	5718	genome.wustl.edu	37	17	65337163	65337163	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:65337163G>A	ENST00000356126.3	-	11	1274	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	PSMD12_ENST00000357146.4_Silent_p.S369S	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	389	PCI.				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 accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GAAAGGCTTCGGACTCCTGCA	0.358																																																	0													53.0	54.0	54.0					17																	65337163		2203	4300	6503	SO:0001819	synonymous_variant	0			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.1167C>T	17.37:g.65337163G>A			A6NP15|Q53HA2|Q6P053	Silent	SNP	pfam_PCI_dom,smart_PCI_dom	p.S389	ENST00000356126.3	37	c.1167	CCDS11669.1	17																																																																																			PSMD12	-	pfam_PCI_dom,smart_PCI_dom	ENSG00000197170		0.358	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD12	HGNC	protein_coding	OTTHUMT00000277103.1	-	0.00	31	0	G	NM_002816, NM_174871		65337163	-1	tier1	-	no_errors	ENST00000356126	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.976	A
PSME2	5721	genome.wustl.edu	37	14	24615778	24615778	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:24615778A>G	ENST00000216802.5	-	1	652	c.13T>C	c.(13-15)Tgt>Cgt	p.C5R	PSME2_ENST00000471700.2_5'UTR|RNF31_ENST00000559275.1_5'Flank|RNF31_ENST00000324103.6_5'Flank|PSME2_ENST00000560410.1_Missense_Mutation_p.C5R|RNF31_ENST00000382687.3_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	5					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)		CGCACCCCACACGGCTTGGCC	0.647																																																	0													58.0	58.0	58.0					14																	24615778		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.13T>C	14.37:g.24615778A>G	ENSP00000216802:p.Cys5Arg		Q15129	Missense_Mutation	SNP	pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28	p.C5R	ENST00000216802.5	37	c.13	CCDS9614.1	14	.	.	.	.	.	.	.	.	.	.	A	13.37	2.215729	0.39102	.	.	ENSG00000100911	ENST00000216802	T	0.21932	1.98	5.22	2.73	0.32206	.	0.755200	0.13435	N	0.388104	T	0.13670	0.0331	L	0.29908	0.895	0.48040	D	0.999579	P	0.37101	0.582	B	0.30251	0.113	T	0.04961	-1.0915	10	0.56958	D	0.05	-0.1677	9.1931	0.37211	0.6419:0.3581:0.0:0.0	.	5	Q9UL46	PSME2_HUMAN	R	5	ENSP00000216802:C5R	ENSP00000216802:C5R	C	-	1	0	PSME2	23685618	0.988000	0.35896	0.995000	0.50966	0.897000	0.52465	0.464000	0.21988	0.383000	0.24910	0.459000	0.35465	TGT	PSME2	-	NULL	ENSG00000100911		0.647	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME2	HGNC	protein_coding	OTTHUMT00000071918.3		0.00	26	0	A	NM_002818		24615778	-1			no_errors	ENST00000216802	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.991	G
PSPH	5723	genome.wustl.edu	37	7	56079283	56079283	+	3'UTR	DEL	A	A	-	rs71015155		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:56079283delA	ENST00000395471.3	-	0	1655				PSPH_ENST00000275605.3_3'UTR|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACTACAGTTAAAAAAAAAAA	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	0			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.*172T>-	7.37:g.56079283delA			B2RCR5|Q7Z3S5	RNA	DEL	-	NULL	ENST00000395471.3	37	NULL	CCDS5522.1	7																																																																																			PSPH	-	-	ENSG00000146733		0.338	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	HGNC	protein_coding	OTTHUMT00000343304.1		0.00	8	0	A	NM_004577		56079283	-1	tier1		no_errors	ENST00000459834	ensembl	human	known	74_37	rna	50.00	7	7	DEL	0.001	-
PTCH1	5727	genome.wustl.edu	37	9	98211549	98211549	+	Frame_Shift_Del	DEL	G	G	-	rs138240178	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:98211549delG	ENST00000331920.6	-	22	3905	c.3606delC	c.(3604-3606)cccfs	p.P1202fs	PTCH1_ENST00000429896.2_Frame_Shift_Del_p.P1051fs|PTCH1_ENST00000375274.2_Frame_Shift_Del_p.P1201fs|PTCH1_ENST00000421141.1_Frame_Shift_Del_p.P1051fs|PTCH1_ENST00000430669.2_Frame_Shift_Del_p.P1136fs|PTCH1_ENST00000418258.1_Frame_Shift_Del_p.P1051fs|PTCH1_ENST00000437951.1_Frame_Shift_Del_p.P1136fs	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1202					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.S1203fs*52(2)|p.S1202fs*52(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGACCACGCTGGGGGGTGGCT	0.597																																																	3	Deletion - Frameshift(3)	large_intestine(3)											23.0	28.0	26.0					9																	98211549		2188	4275	6463	SO:0001589	frameshift_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3606delC	9.37:g.98211549delG	ENSP00000332353:p.Pro1202fs		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Del	DEL	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.S1203fs	ENST00000331920.6	37	c.3606	CCDS6714.1	9																																																																																			PTCH1	-	tigrfam_TM_rcpt_patched	ENSG00000185920		0.597	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2		0.00	44	0	G	NM_000264		98211549	-1	tier1		no_errors	ENST00000331920	ensembl	human	known	74_37	frame_shift_del	18.87	43	10	DEL	0.012	-
PTGDS	5730	genome.wustl.edu	37	9	139873716	139873716	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:139873716C>T	ENST00000371625.3	+	3	370	c.296C>T	c.(295-297)gCg>gTg	p.A99V	RP11-229P13.19_ENST00000413913.2_RNA|PTGDS_ENST00000224167.2_Missense_Mutation_p.A99V|PTGDS_ENST00000460340.1_3'UTR	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	99					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)	p.A99E(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTGCAGCCCGCGGGGTCCCTC	0.687																																																	1	Substitution - Missense(1)	lung(1)											63.0	71.0	68.0					9																	139873716		2203	4299	6502	SO:0001583	missense	0			AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.296C>T	9.37:g.139873716C>T	ENSP00000360687:p.Ala99Val		B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth	p.A99V	ENST00000371625.3	37	c.296	CCDS7019.1	9	.	.	.	.	.	.	.	.	.	.	c	14.66	2.602367	0.46423	.	.	ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625;ENST00000371623	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	4.81	-2.14	0.07123	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.960401	0.08544	N	0.930045	T	0.06872	0.0175	M	0.65320	2	0.09310	N	1	P	0.37636	0.603	B	0.27608	0.081	T	0.20773	-1.0265	10	0.72032	D	0.01	-9.6379	1.9671	0.03398	0.2482:0.3666:0.2414:0.1438	.	99	P41222	PTGDS_HUMAN	V	99	ENSP00000224167:A99V;ENSP00000392633:A99V;ENSP00000360687:A99V;ENSP00000360685:A99V	ENSP00000224167:A99V	A	+	2	0	PTGDS	138993537	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.019000	0.12546	-0.866000	0.04068	-1.579000	0.00862	GCG	PTGDS	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000107317		0.687	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDS	HGNC	protein_coding	OTTHUMT00000055188.1	-	0.00	44	0	C	NM_000954		139873716	+1	tier1	-	no_errors	ENST00000224167	ensembl	human	known	74_37	missense	38.95	58	37	SNP	0.000	T
PTHLH	5744	genome.wustl.edu	37	12	28114898	28114898	+	Intron	DEL	T	T	-	rs377014358		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:28114898delT	ENST00000545234.1	-	5	1065				PTHLH_ENST00000395872.1_Intron|PTHLH_ENST00000538310.1_Frame_Shift_Del_p.K186fs|PTHLH_ENST00000354417.3_Frame_Shift_Del_p.K186fs|PTHLH_ENST00000539239.1_Intron|RP11-993B23.3_ENST00000538113.1_RNA			P12272	PTHR_HUMAN	parathyroid hormone-like hormone						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GTTGTTTTCCTTTTTTTTTTT	0.333																																																	0													16.0	16.0	16.0					12																	28114898		875	1991	2866	SO:0001627	intron_variant	0				CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.524+1382A>-	12.37:g.28114898delT			Q15251|Q6FH74	Frame_Shift_Del	DEL	pfam_PTH/PTH-rel,smart_PTH/PTH-rel	p.K186fs	ENST00000545234.1	37	c.557	CCDS44853.1	12																																																																																			PTHLH	-	NULL	ENSG00000087494		0.333	PTHLH-001	KNOWN	basic|CCDS	protein_coding	PTHLH	HGNC	protein_coding	OTTHUMT00000402913.1		0.00	22	0	T	NM_198965		28114898	-1	tier1		no_errors	ENST00000354417	ensembl	human	known	74_37	frame_shift_del	33.33	18	9	DEL	0.135	-
PTPRU	10076	genome.wustl.edu	37	1	29641996	29641996	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:29641996C>A	ENST00000345512.3	+	24	3499	c.3370C>A	c.(3370-3372)Cgt>Agt	p.R1124S	PTPRU_ENST00000428026.2_Missense_Mutation_p.R1111S|PTPRU_ENST00000356870.3_Missense_Mutation_p.R1120S|PTPRU_ENST00000460170.2_Missense_Mutation_p.R1120S|PTPRU_ENST00000323874.8_Missense_Mutation_p.R1120S|PTPRU_ENST00000373779.3_Missense_Mutation_p.R1114S	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1124	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGCTCCCGGCGTGTCAACAT	0.557																																																	0													129.0	120.0	123.0					1																	29641996		2203	4300	6503	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3370C>A	1.37:g.29641996C>A	ENSP00000334941:p.Arg1124Ser		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R1124S	ENST00000345512.3	37	c.3370	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782940	0.70222	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	4.66	3.73	0.42828	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.90642	0.7065	H	0.99705	4.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.93235	0.6621	9	.	.	.	.	12.1253	0.53913	0.3275:0.6725:0.0:0.0	.	1111;1120;1114;1120;1124	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	S	1124;1114;1120;1120;1111;1120	ENSP00000334941:R1124S;ENSP00000362884:R1114S;ENSP00000349333:R1120S;ENSP00000314987:R1120S;ENSP00000392332:R1111S;ENSP00000432906:R1120S	.	R	+	1	0	PTPRU	29514583	1.000000	0.71417	0.866000	0.34008	0.910000	0.53928	3.678000	0.54627	1.292000	0.44672	0.561000	0.74099	CGT	PTPRU	-	pfam_Tyr_Pase_rcpt/non-rcpt,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	ENSG00000060656		0.557	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	-	0.00	48	0	C			29641996	+1	tier1	-	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	68.97	18	40	SNP	0.998	A
PTPRF	5792	genome.wustl.edu	37	1	44054632	44054632	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:44054632C>T	ENST00000359947.4	+	8	1250	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000438120.1_Silent_p.L304L|PTPRF_ENST00000372413.3_Silent_p.L304L|PTPRF_ENST00000372414.3_Silent_p.L304L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	304	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCTCCTCGCTGGGCATGAT	0.602																																																	0													96.0	78.0	84.0					1																	44054632		2203	4300	6503	SO:0001819	synonymous_variant	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.910C>T	1.37:g.44054632C>T			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.L304	ENST00000359947.4	37	c.910	CCDS489.2	1																																																																																			PTPRF	-	pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142949		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	-	0.00	40	0	C			44054632	+1	tier1	-	no_errors	ENST00000359947	ensembl	human	known	74_37	silent	25.00	72	24	SNP	0.991	T
PVRL1	5818	genome.wustl.edu	37	11	119535677	119535678	+	In_Frame_Ins	INS	-	-	CCT	rs539461545|rs137909701|rs369523216|rs375181781|rs3833765		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:119535677_119535678insCCT	ENST00000264025.3	-	6	1863_1864	c.1333_1334insAGG	c.(1333-1335)ggc>gAGGgc	p.444_445insE	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.|Poly-Gly.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCTCCACCGCcctcctcctcc	0.658																																																	1	Deletion - Frameshift(1)	kidney(1)	GRCh37	HI030001	PVRL1	I	rs137909701																																			SO:0001652	inframe_insertion	0			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333dupAGG	11.37:g.119535684_119535686dupCCT	ENSP00000264025:p.Glu444_Glu444dup		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Ins	INS	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.445in_frame_insE	ENST00000264025.3	37	c.1334_1333	CCDS8426.1	11																																																																																			PVRL1	-	NULL	ENSG00000110400		0.658	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1		0.00	17	0	-			119535678	-1	tier1		no_errors	ENST00000264025	ensembl	human	known	74_37	in_frame_ins	17.07	34	7	INS	0.902:0.989	CCT
PYCR2	29920	genome.wustl.edu	37	1	226111805	226111805	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:226111805G>C	ENST00000343818.6	-	1	154	c.6C>G	c.(4-6)agC>agG	p.S2R	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.S2R	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	2					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	TGAAGCCCACGCTCATGGTCC	0.726																																																	0													4.0	7.0	6.0					1																	226111805		2067	4081	6148	SO:0001583	missense	0			AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.6C>G	1.37:g.226111805G>C	ENSP00000342502:p.Ser2Arg		A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.S2R	ENST00000343818.6	37	c.6	CCDS31043.1	1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.320244	0.81469	.	.	ENSG00000255835;ENSG00000143811;ENSG00000143811	ENST00000432920;ENST00000343818;ENST00000316940	T;T	0.60920	0.15;0.15	4.6	3.68	0.42216	NAD(P)-binding domain (1);	0.040110	0.85682	D	0.000000	T	0.53965	0.1829	N	0.20483	0.58	0.51233	D	0.999914	P;D	0.60575	0.874;0.988	P;D	0.64595	0.849;0.927	T	0.49916	-0.8888	10	0.28530	T	0.3	-18.4794	7.1741	0.25734	0.1994:0.0:0.8005:0.0	.	2;2	E7EUD8;Q96C36	.;P5CR2_HUMAN	R	2	ENSP00000414068:S2R;ENSP00000342502:S2R	ENSP00000321781:S2R	S	-	3	2	PYCR2;RP4-559A3.7	224178428	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.893000	0.28336	1.290000	0.44636	0.655000	0.94253	AGC	PYCR2	-	pirsf_Pyrroline-COOH_reductase	ENSG00000143811		0.726	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCR2	HGNC	protein_coding	OTTHUMT00000091314.1	-	0.00	8	0	G	NM_013328		226111805	-1	tier1	-	no_errors	ENST00000343818	ensembl	human	known	74_37	missense	37.50	10	6	SNP	1.000	C
RAB12	201475	genome.wustl.edu	37	18	8636357	8636358	+	Splice_Site	INS	-	-	A	rs113358113		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:8636357_8636358insA	ENST00000329286.6	+	5	904		c.e5+2		RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family						autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						CTGAAAAAGGTAAAAAAAAGAA	0.327																																																	0																																										SO:0001630	splice_region_variant	0				CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.621+2->A	18.37:g.8636365_8636365dupA			A6NEF5|Q4KMQ3	Splice_Site	INS	-	e5+2	ENST00000329286.6	37	c.621+2_621+1	CCDS42410.1	18																																																																																			RAB12	-	-	ENSG00000206418		0.327	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	RAB12	HGNC	protein_coding	OTTHUMT00000444080.1		0.00	19	0	-	XM_113967	Intron	8636358	+1	tier1		no_errors	ENST00000329286	ensembl	human	known	74_37	splice_site_ins	44.44	15	12	INS	1.000:0.962	A
RAB13	5872	genome.wustl.edu	37	1	153955602	153955602	+	Intron	DEL	A	A	-	rs370008084		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:153955602delA	ENST00000368575.3	-	4	440				RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family						cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			acttcatctcaaaaaaaaaaa	0.498																																					Ovarian(138;395 2427 24306 43415)												0																																										SO:0001627	intron_variant	0			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.324+92T>-	1.37:g.153955602delA			A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	RNA	DEL	-	NULL	ENST00000368575.3	37	NULL	CCDS1058.1	1																																																																																			RAB13	-	-	ENSG00000143545		0.498	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	HGNC	protein_coding	OTTHUMT00000088992.1		0.00	11	0	A	NM_002870		153955602	-1	tier1		no_errors	ENST00000462680	ensembl	human	known	74_37	rna	23.81	16	5	DEL	0.029	-
RAB25	57111	genome.wustl.edu	37	1	156035905	156035905	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:156035905C>T	ENST00000361084.5	+	2	480				RAB25_ENST00000487325.1_Intron	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family						positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGCGTGAGCCCGGGCCTGGGG	0.662																																																	0													20.0	22.0	21.0					1																	156035905		2003	4182	6185	SO:0001627	intron_variant	0			AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.239+8C>T	1.37:g.156035905C>T			Q5VYA2|Q8NG24|Q96GB1|Q9BT12	RNA	SNP	-	NULL	ENST00000361084.5	37	NULL	CCDS41413.1	1																																																																																			RAB25	-	-	ENSG00000132698		0.662	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB25	HGNC	protein_coding	OTTHUMT00000046185.1	-	0.00	38	0	C			156035905	+1	tier1	-	no_errors	ENST00000463614	ensembl	human	known	74_37	rna	47.83	24	22	SNP	0.000	T
RAB2B	84932	genome.wustl.edu	37	14	21936607	21936607	+	Splice_Site	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:21936607G>A	ENST00000397762.1	-	5	371	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	91					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		AAGGTTTCACGCCTACAGCAG	0.443																																					Melanoma(131;1007 1750 28652 34486 42672)												0													61.0	60.0	60.0					14																	21936607		2203	4300	6503	SO:0001630	splice_region_variant	0			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.270-1C>T	14.37:g.21936607G>A			B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R91C	ENST00000397762.1	37	c.271	CCDS9570.1	14	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821896	0.71028	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.78816	-1.21	5.06	4.15	0.48705	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000013	D	0.90899	0.7140	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92524	0.6027	10	0.72032	D	0.01	.	11.6197	0.51111	0.0:0.0:0.677:0.323	.	91;26	Q8WUD1;Q6NZ33	RAB2B_HUMAN;.	C	91	ENSP00000380869:R91C	ENSP00000302005:R91C	R	-	1	0	RAB2B	21006447	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	1.854000	0.39368	1.315000	0.45114	0.655000	0.94253	CGT	RAB2B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000129472		0.443	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2B	HGNC	protein_coding	OTTHUMT00000074053.4	-	0.00	25	0	G		Missense_Mutation	21936607	-1	tier1	-	no_errors	ENST00000397762	ensembl	human	known	74_37	missense	47.06	27	24	SNP	1.000	A
RAB3GAP2	25782	genome.wustl.edu	37	1	220327392	220327392	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:220327392delT	ENST00000358951.2	-	32	3679	c.3563delA	c.(3562-3564)aatfs	p.N1188fs		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1188					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GAAAAATGCATTTTTTCCCTA	0.328																																																	0													87.0	95.0	92.0					1																	220327392		2201	4300	6501	SO:0001589	frameshift_variant	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3563delA	1.37:g.220327392delT	ENSP00000351832:p.Asn1188fs		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Frame_Shift_Del	DEL	superfamily_WD40_repeat_dom	p.N1188fs	ENST00000358951.2	37	c.3563	CCDS31028.1	1																																																																																			RAB3GAP2	-	NULL	ENSG00000118873		0.328	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2		0.00	35	0	T	NM_012414		220327392	-1	tier1		no_errors	ENST00000358951	ensembl	human	known	74_37	frame_shift_del	26.00	37	13	DEL	1.000	-
RALY	22913	genome.wustl.edu	37	20	32660107	32660107	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:32660107A>G	ENST00000246194.3	+	3	729	c.227A>G	c.(226-228)aAt>aGt	p.N76S	RALY_ENST00000493399.1_Intron|RALY_ENST00000375114.3_Missense_Mutation_p.N76S	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	76	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTGGGAGAGAATGGGCGGGTG	0.547																																																	0													48.0	51.0	50.0					20																	32660107		2203	4300	6503	SO:0001583	missense	0			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.227A>G	20.37:g.32660107A>G	ENSP00000246194:p.Asn76Ser		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.N76S	ENST00000246194.3	37	c.227	CCDS13230.1	20	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872356	0.91587	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000413297;ENST00000442805	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	L	0.58669	1.825	0.53005	D	0.999967	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	T	0.67925	-0.5544	10	0.66056	D	0.02	-27.7786	15.6711	0.77274	1.0:0.0:0.0:0.0	.	76;76	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	S	76	ENSP00000364255:N76S;ENSP00000413638:N76S;ENSP00000246194:N76S;ENSP00000403744:N76S;ENSP00000415973:N76S	ENSP00000246194:N76S	N	+	2	0	RALY	32123768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.037000	0.93765	2.285000	0.76669	0.477000	0.44152	AAT	RALY	-	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	ENSG00000125970		0.547	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALY	HGNC	protein_coding	OTTHUMT00000078753.1	-	0.00	16	0	A			32660107	+1	tier1	-	no_errors	ENST00000246194	ensembl	human	known	74_37	missense	19.64	45	11	SNP	1.000	G
RALYL	138046	genome.wustl.edu	37	8	85774569	85774569	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:85774569G>A	ENST00000521268.1	+	6	1557	c.452G>A	c.(451-453)cGt>cAt	p.R151H	RALYL_ENST00000521376.1_Missense_Mutation_p.R62H|RALYL_ENST00000521695.1_Missense_Mutation_p.R151H|RALYL_ENST00000518566.1_Missense_Mutation_p.R140H|RALYL_ENST00000522455.1_Missense_Mutation_p.R151H|RALYL_ENST00000517638.1_Missense_Mutation_p.R164H|RALYL_ENST00000523850.1_Missense_Mutation_p.R78H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCACCTCCCCGTGCAGTAATT	0.498																																																	0													56.0	56.0	56.0					8																	85774569		1903	4127	6030	SO:0001583	missense	0				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.452G>A	8.37:g.85774569G>A	ENSP00000430367:p.Arg151His		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.R151H	ENST00000521268.1	37	c.452	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000863	0.74818	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.23348	2.63;2.63;2.63;2.56;2.62;2.15;1.91	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.75264	2.295	0.43250	D	0.99517	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	P;D;D;D;D	0.87578	0.899;0.994;0.998;0.993;0.994	T	0.53718	-0.8399	10	0.51188	T	0.08	-3.6618	19.1979	0.93696	0.0:0.0:1.0:0.0	.	140;151;78;164;151	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	H	151;151;151;140;164;78;62	ENSP00000430394:R151H;ENSP00000428667:R151H;ENSP00000430367:R151H;ENSP00000430065:R140H;ENSP00000430128:R164H;ENSP00000428807:R78H;ENSP00000428310:R62H	ENSP00000430128:R164H	R	+	2	0	RALYL	85937124	1.000000	0.71417	0.646000	0.29493	0.433000	0.31745	7.074000	0.76791	2.599000	0.87857	0.551000	0.68910	CGT	RALYL	-	pirsf_hnRNP_C_Raly	ENSG00000184672		0.498	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	HGNC	protein_coding	OTTHUMT00000379448.1	-	0.00	34	0	G			85774569	+1	tier1	-	no_errors	ENST00000521268	ensembl	human	known	74_37	missense	34.57	53	28	SNP	0.995	A
RAPGEF2	9693	genome.wustl.edu	37	4	160260486	160260486	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:160260486C>T	ENST00000264431.4	+	13	2450	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	677	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AACTTGCAGACAGAATACAAC	0.418																																																	0													104.0	98.0	100.0					4																	160260486		1869	4094	5963	SO:0001819	synonymous_variant	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2031C>T	4.37:g.160260486C>T			D3DP27	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D677	ENST00000264431.4	37	c.2031	CCDS43277.1	4																																																																																			RAPGEF2	-	pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000109756		0.418	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	-	0.00	34	0	C	NM_014247		160260486	+1	tier1	-	no_errors	ENST00000264431	ensembl	human	known	74_37	silent	25.00	21	7	SNP	0.969	T
RAPGEF4	11069	genome.wustl.edu	37	2	173679337	173679337	+	Intron	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:173679337delT	ENST00000397081.3	+	4	587				RAPGEF4_ENST00000264111.6_Intron|RAPGEF4_ENST00000409036.1_Intron	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4						blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CAAGACATCCTTTTTTTTGTT	0.308																																																	0																																										SO:0001627	intron_variant	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.444+184T>-	2.37:g.173679337delT			B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	RNA	DEL	-	NULL	ENST00000397081.3	37	NULL	CCDS42775.1	2																																																																																			RAPGEF4	-	-	ENSG00000091428		0.308	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2		0.00	59	0	T	NM_007023		173679337	+1	tier1		no_errors	ENST00000464976	ensembl	human	known	74_37	rna	30.00	77	33	DEL	0.000	-
RARRES3	5920	genome.wustl.edu	37	11	63313709	63313709	+	Frame_Shift_Del	DEL	A	A	-	rs547099153		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:63313709delA	ENST00000255688.3	+	4	524	c.476delA	c.(475-477)caafs	p.Q159fs	RARRES3_ENST00000354445.2_Frame_Shift_Del_p.Q159fs|RARRES3_ENST00000537871.1_3'UTR	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	159					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						AGGAGATACCAAAAAAAAGCG	0.537																																																	0													111.0	127.0	122.0					11																	63313709		1948	4123	6071	SO:0001589	frameshift_variant	0				CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.476delA	11.37:g.63313709delA	ENSP00000255688:p.Gln159fs		B2R599|B4DDW2|E7ENZ7|O95200	Frame_Shift_Del	DEL	pfam_LRAT-like_dom	p.A162fs	ENST00000255688.3	37	c.476	CCDS41662.1	11																																																																																			RARRES3	-	NULL	ENSG00000133321		0.537	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARRES3	HGNC	protein_coding	OTTHUMT00000396629.1		0.00	46	0	A			63313709	+1	tier1		no_errors	ENST00000255688	ensembl	human	known	74_37	frame_shift_del	40.26	46	31	DEL	0.001	-
EIF2D	1939	genome.wustl.edu	37	1	206762574	206762574	+	IGR	DEL	A	A	-	rs571671993		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:206762574delA	ENST00000271764.2	-	0	2094				RASSF5_ENST00000304534.8_3'UTR|RASSF5_ENST00000491368.1_3'UTR|EIF2D_ENST00000472709.2_Intron	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D						formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TATGGGTTTTAAAAAAAAGTA	0.398																																																	0																																										SO:0001628	intergenic_variant	0			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619		1.37:g.206762574delA			Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	RNA	DEL	-	NULL	ENST00000271764.2	37	NULL	CCDS1465.1	1																																																																																			RASSF5	-	-	ENSG00000136653		0.398	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF5	HGNC	protein_coding	OTTHUMT00000088475.1		0.00	64	0	A	NM_006893		206762574	+1	tier1		no_errors	ENST00000481486	ensembl	human	putative	74_37	rna	24.19	47	15	DEL	0.036	-
RBM12B	389677	genome.wustl.edu	37	8	94746149	94746149	+	Silent	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:94746149G>T	ENST00000399300.2	-	3	2703	c.2490C>A	c.(2488-2490)ccC>ccA	p.P830P	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Silent_p.P710P|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	830							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTTCCTCCTGGGGGCTCCTGA	0.557																																																	0													50.0	51.0	51.0					8																	94746149		1835	4083	5918	SO:0001819	synonymous_variant	0				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2490C>A	8.37:g.94746149G>T			A8MYB5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P830	ENST00000399300.2	37	c.2490	CCDS43755.1	8																																																																																			RBM12B	-	NULL	ENSG00000183808		0.557	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	-	0.00	38	0	G	NM_203390		94746149	-1	tier1	-	no_errors	ENST00000399300	ensembl	human	known	74_37	silent	43.68	49	38	SNP	0.971	T
RBMS1	5937	genome.wustl.edu	37	2	161130971	161130971	+	3'UTR	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:161130971delT	ENST00000348849.3	-	0	1963				ITGB6_ENST00000485635.1_5'Flank|RBMS1_ENST00000409289.2_3'UTR|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409075.1_3'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1						DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								ttttcttttcttttttttttt	0.264																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.*312A>-	2.37:g.161130971delT			Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	RNA	DEL	-	NULL	ENST00000348849.3	37	NULL	CCDS2213.1	2																																																																																			RBMS1	-	-	ENSG00000153250		0.264	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	HGNC	protein_coding	OTTHUMT00000255043.4		0.00	20	0	T	NM_016836		161130971	-1	tier1		no_errors	ENST00000474820	ensembl	human	known	74_37	rna	19.23	21	5	DEL	0.068	-
RBP3	5949	genome.wustl.edu	37	10	48390416	48390416	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:48390416G>A	ENST00000224600.4	-	1	575	c.462C>T	c.(460-462)caC>caT	p.H154H	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	154	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCCCCACACGTGGGCCACCA	0.627																																																	0													66.0	71.0	69.0					10																	48390416		2203	4300	6503	SO:0001819	synonymous_variant	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.462C>T	10.37:g.48390416G>A			Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.H154	ENST00000224600.4	37	c.462	CCDS7218.1	10																																																																																			RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd	ENSG00000107618		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	-	0.00	21	0	G	NM_002900		48390416	-1	tier1	-	no_errors	ENST00000224600	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.000	A
RBPJL	11317	genome.wustl.edu	37	20	43945485	43945485	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:43945485C>A	ENST00000343694.3	+	12	1512	c.1440C>A	c.(1438-1440)agC>agA	p.S480R	RBPJL_ENST00000372743.1_Missense_Mutation_p.S479R|RBPJL_ENST00000372741.3_3'UTR|RBPJL_ENST00000464504.1_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	480	IPT/TIG.				positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CGGAATACAGCGTGCGGCCGG	0.672																																																	0													42.0	51.0	48.0					20																	43945485		2203	4300	6503	SO:0001583	missense	0			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1440C>A	20.37:g.43945485C>A	ENSP00000341243:p.Ser480Arg		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.S480R	ENST00000343694.3	37	c.1440	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212741	0.58452	.	.	ENSG00000124232	ENST00000372743;ENST00000343694	T;T	0.38560	1.13;1.13	5.06	2.75	0.32379	.	0.302114	0.32328	N	0.006247	T	0.47544	0.1451	L	0.51422	1.61	0.37034	D	0.896815	D	0.63880	0.993	P	0.55345	0.774	T	0.56805	-0.7918	10	0.66056	D	0.02	-16.915	9.8399	0.40993	0.0:0.8073:0.0:0.1927	.	480	Q9UBG7	RBPJL_HUMAN	R	479;480	ENSP00000361828:S479R;ENSP00000341243:S480R	ENSP00000341243:S480R	S	+	3	2	RBPJL	43378899	0.378000	0.25114	0.588000	0.28705	0.444000	0.32077	0.638000	0.24674	1.136000	0.42199	0.449000	0.29647	AGC	RBPJL	-	NULL	ENSG00000124232		0.672	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	-	0.00	53	0	C	NM_014276		43945485	+1	tier1	-	no_errors	ENST00000343694	ensembl	human	known	74_37	missense	44.53	76	61	SNP	0.665	A
RECQL	5965	genome.wustl.edu	37	12	21623237	21623237	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:21623237delT	ENST00000444129.2	-	15	2309	c.1841delA	c.(1840-1842)aagfs	p.K614fs	RECQL_ENST00000421138.2_Frame_Shift_Del_p.K614fs|PYROXD1_ENST00000538582.1_3'UTR|PYROXD1_ENST00000240651.9_3'UTR	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	614					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTCCTCCATCTTTTTATCACC	0.358								Other identified genes with known or suspected DNA repair function																																									0													32.0	30.0	31.0					12																	21623237		2196	4284	6480	SO:0001589	frameshift_variant	0			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1841delA	12.37:g.21623237delT	ENSP00000416739:p.Lys614fs		A8K6G2	Frame_Shift_Del	DEL	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.K614fs	ENST00000444129.2	37	c.1841	CCDS31756.1	12																																																																																			RECQL	-	NULL	ENSG00000004700		0.358	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1		0.00	55	0	T	NM_002907		21623237	-1			no_errors	ENST00000421138	ensembl	human	known	74_37	frame_shift_del	25.93	40	14	DEL	0.018	0
RECQL5	9400	genome.wustl.edu	37	17	73623721	73623723	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:73623721_73623723delTCT	ENST00000317905.5	-	19	3014_3016	c.2855_2857delAGA	c.(2854-2859)aagacc>acc	p.K952del	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_In_Frame_Del_p.K925del	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	952					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAGGAGAGGTCTTCTGAGTCAG	0.606								Other identified genes with known or suspected DNA repair function																																									0																																										SO:0001651	inframe_deletion	0			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2855_2857delAGA	17.37:g.73623724_73623726delTCT	ENSP00000317636:p.Lys952del		Q9H0B1|Q9P1W7|Q9UNC8	In_Frame_Del	DEL	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.K952in_frame_del	ENST00000317905.5	37	c.2857_2855	CCDS42380.1	17																																																																																			RECQL5	-	NULL	ENSG00000108469		0.606	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1		0.00	11	0	TCT	NM_004259		73623723	-1	tier1		no_errors	ENST00000317905	ensembl	human	known	74_37	in_frame_del	29.41	24	10	DEL	0.000:0.005:0.052	-
REN	5972	genome.wustl.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309|rs121917743		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AGC	AGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:204135375_204135377delAGC	ENST00000272190.8	-	1	73_75	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000367195.2_In_Frame_Del_p.15_16LL>L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	15			L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion). {ECO:0000269|PubMed:19664745}.		angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581																																																	0																																										SO:0001651	inframe_deletion	0			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.45_47delGCT	1.37:g.204135384_204135386delAGC	ENSP00000272190:p.Leu16del		Q6FI38|Q6T5C2	In_Frame_Del	DEL	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.L16in_frame_del	ENST00000272190.8	37	c.47_45	CCDS30981.1	1																																																																																			REN	-	superfamily_Peptidase_aspartic_dom	ENSG00000143839		0.581	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	HGNC	protein_coding	OTTHUMT00000087891.1		0.00	52	0	AGC	NM_000537		204135377	-1	tier1		no_errors	ENST00000272190	ensembl	human	known	74_37	in_frame_del	13.43	58	9	DEL	0.984:0.987:0.989	-
REV3L	5980	genome.wustl.edu	37	6	111694984	111694984	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:111694984G>C	ENST00000358835.3	-	14	5028	c.4574C>G	c.(4573-4575)tCt>tGt	p.S1525C	REV3L_ENST00000435970.1_Missense_Mutation_p.S1447C|REV3L_ENST00000368802.3_Missense_Mutation_p.S1525C|REV3L_ENST00000368805.1_Missense_Mutation_p.S1525C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1525					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGCCAGTCCAGACTGTCCTTC	0.373								DNA polymerases (catalytic subunits)																																									0													173.0	175.0	175.0					6																	111694984		2203	4300	6503	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4574C>G	6.37:g.111694984G>C	ENSP00000351697:p.Ser1525Cys		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.S1525C	ENST00000358835.3	37	c.4574	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430697	0.62844	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.02763	4.26;4.26;4.26;4.17	6.04	6.04	0.98038	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000001	T	0.10465	0.0256	M	0.61703	1.905	0.50813	D	0.999895	D	0.89917	1.0	D	0.85130	0.997	T	0.01520	-1.1334	10	0.87932	D	0	-6.2341	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1525	O60673	DPOLZ_HUMAN	C	1525;1525;1525;1447	ENSP00000357792:S1525C;ENSP00000357795:S1525C;ENSP00000351697:S1525C;ENSP00000402003:S1447C	ENSP00000351697:S1525C	S	-	2	0	REV3L	111801677	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.412000	0.90232	2.873000	0.98535	0.563000	0.77884	TCT	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.373	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0.00	64	0	G	NM_002912		111694984	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	27.16	59	22	SNP	1.000	C
RHBDL1	9028	genome.wustl.edu	37	16	727386	727386	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:727386C>T	ENST00000219551.2	+	4	908	c.881C>T	c.(880-882)gCa>gTa	p.A294V	STUB1_ENST00000219548.4_5'Flank|RHBDL1_ENST00000352681.3_Missense_Mutation_p.A229V|LA16c-313D11.9_ENST00000571933.1_RNA|LA16c-313D11.9_ENST00000567091.1_RNA|STUB1_ENST00000565677.1_5'Flank			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	294					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GGCGTGCTGGCAGGTGAGGCA	0.692																																																	0													13.0	11.0	12.0					16																	727386		2162	4252	6414	SO:0001583	missense	0			Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"""rhomboid (veinlet, Drosophila)-like"""	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.881C>T	16.37:g.727386C>T	ENSP00000219551:p.Ala294Val		A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met	p.A294V	ENST00000219551.2	37	c.881	CCDS10418.1	16	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042707	0.75732	.	.	ENSG00000103269	ENST00000352681;ENST00000450775;ENST00000219551	T;T	0.14766	2.48;2.48	4.03	4.03	0.46877	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	L	0.59967	1.855	0.80722	D	1	D;P;B	0.76494	0.999;0.768;0.207	D;P;B	0.87578	0.998;0.717;0.348	T	0.11817	-1.0572	10	0.87932	D	0	-4.7833	14.7611	0.69607	0.0:1.0:0.0:0.0	.	229;294;229	B4DFK3;O75783;O75783-2	.;RHBL1_HUMAN;.	V	229;229;294	ENSP00000344206:A229V;ENSP00000219551:A294V	ENSP00000219551:A294V	A	+	2	0	RHBDL1	667387	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.130000	0.77235	1.805000	0.52779	0.561000	0.74099	GCA	RHBDL1	-	pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met	ENSG00000103269		0.692	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	RHBDL1	HGNC	protein_coding	OTTHUMT00000241619.1	-	0.00	42	0	C	NM_003961		727386	+1	tier1	-	no_errors	ENST00000219551	ensembl	human	known	74_37	missense	50.88	26	29	SNP	1.000	T
RHOBTB1	9886	genome.wustl.edu	37	10	62647970	62647970	+	Splice_Site	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:62647970C>A	ENST00000337910.5	-	6	1793	c.1456G>T	c.(1456-1458)Gac>Tac	p.D486Y	RHOBTB1_ENST00000357917.4_Splice_Site_p.D486Y	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	486	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GCCCACTCACCCGAGAACGTT	0.463																																																	0													66.0	65.0	65.0					10																	62647970		2203	4300	6503	SO:0001630	splice_region_variant	0			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1456+1G>T	10.37:g.62647970C>A				Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.D486Y	ENST00000337910.5	37	c.1456	CCDS7261.1	10	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947334	0.73672	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	D;D	0.91464	-2.85;-2.85	5.75	5.75	0.90469	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.131761	0.51477	D	0.000083	D	0.96685	0.8918	M	0.94021	3.485	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	D	0.97136	0.9821	9	.	.	.	.	19.9525	0.97208	0.0:1.0:0.0:0.0	.	486	O94844	RHBT1_HUMAN	Y	486	ENSP00000350595:D486Y;ENSP00000338671:D486Y	.	D	-	1	0	RHOBTB1	62317976	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	7.767000	0.85331	2.719000	0.93026	0.655000	0.94253	GAC	RHOBTB1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000072422		0.463	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	HGNC	protein_coding	OTTHUMT00000048220.1	-	0.00	39	0	C		Missense_Mutation	62647970	-1	tier1	-	no_errors	ENST00000337910	ensembl	human	known	74_37	missense	51.16	21	22	SNP	1.000	A
RHOJ	57381	genome.wustl.edu	37	14	63671516	63671516	+	5'UTR	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:63671516C>T	ENST00000316754.3	+	0	391				RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_5'Flank	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J						actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		TGGCTTTCTGCCGCTTCATGT	0.512																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.-72C>T	14.37:g.63671516C>T			Q96KC1	RNA	SNP	-	NULL	ENST00000316754.3	37	NULL	CCDS9757.1	14																																																																																			RHOJ	-	-	ENSG00000126785		0.512	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOJ	HGNC	protein_coding	OTTHUMT00000276975.3	-	0.00	12	0	C			63671516	+1	tier1	-	no_errors	ENST00000557133	ensembl	human	putative	74_37	rna	73.33	4	11	SNP	0.000	T
RIC3	79608	genome.wustl.edu	37	11	8132633	8132633	+	Missense_Mutation	SNP	C	C	T	rs575742410		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:8132633C>T	ENST00000309737.6	-	6	721	c.722G>A	c.(721-723)cGt>cAt	p.R241H	RIC3_ENST00000343202.4_Missense_Mutation_p.R240H|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Missense_Mutation_p.R59H|RIC3_ENST00000539720.1_Missense_Mutation_p.R192H|RIC3_ENST00000396677.2_Missense_Mutation_p.R79H|RIC3_ENST00000425599.2_Missense_Mutation_p.R160H			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	241					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTCTTGCCTACGCTTGATACA	0.383																																																	0													84.0	84.0	84.0					11																	8132633		2201	4296	6497	SO:0001583	missense	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.722G>A	11.37:g.8132633C>T	ENSP00000308820:p.Arg241His		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	NULL	p.R241H	ENST00000309737.6	37	c.722	CCDS55742.1	11	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473346	0.26423	.	.	ENSG00000166405	ENST00000396677;ENST00000335425;ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000425599;ENST00000531450	T;T;T;T;T	0.40756	1.11;1.11;1.12;1.02;1.12	6.06	-6.42	0.01932	.	0.493453	0.21803	N	0.068883	T	0.44993	0.1320	L	0.46885	1.475	0.37888	D	0.930619	B;D;B;B;B;B	0.76494	0.038;0.999;0.025;0.035;0.035;0.014	B;P;B;B;B;B	0.57204	0.012;0.815;0.018;0.012;0.012;0.007	T	0.57619	-0.7780	10	0.38643	T	0.18	.	16.2204	0.82255	0.0:0.387:0.0:0.613	.	269;160;59;241;240;79	B7Z1U4;B0B1U0;Q7Z5B4-3;Q7Z5B4;Q7Z5B4-5;D3DQU6	.;.;.;RIC3_HUMAN;.;.	H	79;59;240;241;269;192;160;269	ENSP00000344904:R240H;ENSP00000308820:R241H;ENSP00000443871:R192H;ENSP00000395320:R160H;ENSP00000431658:R269H	ENSP00000308820:R241H	R	-	2	0	RIC3	8089209	0.000000	0.05858	0.341000	0.25589	0.888000	0.51559	-2.434000	0.01021	-1.836000	0.01190	-1.099000	0.02127	CGT	RIC3	-	NULL	ENSG00000166405		0.383	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1	-	0.00	33	0	C	NM_024557		8132633	-1	tier1	-	no_errors	ENST00000309737	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.219	T
RIC3	79608	genome.wustl.edu	37	11	8159967	8159967	+	Intron	DEL	A	A	-	rs78612783		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:8159967delA	ENST00000309737.6	-	3	351				RIC3_ENST00000343202.4_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000539720.1_Intron|RIC3_ENST00000425599.2_Intron			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone						cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CATATCAAACAAAAAAAAAAG	0.383																																																	0																																										SO:0001627	intron_variant	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.352-73T>-	11.37:g.8159967delA			B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	RNA	DEL	-	NULL	ENST00000309737.6	37	NULL	CCDS55742.1	11																																																																																			RIC3	-	-	ENSG00000166405		0.383	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1		0.00	19	0	A	NM_024557		8159967	-1	tier1		no_errors	ENST00000524799	ensembl	human	known	74_37	rna	56.00	11	14	DEL	0.000	-
RICTOR	253260	genome.wustl.edu	37	5	38954826	38954826	+	5'UTR	DEL	T	T	-	rs190666602	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:38954826delT	ENST00000503698.1	-	0	754				RICTOR_ENST00000296782.5_Intron|RICTOR_ENST00000357387.3_Intron					RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TAAGATTTTGTTTTTTTTTTA	0.274																																																	0										610,31,4,3621		43,0,0,524,4,0,23,0,4,1535	48.0	49.0	49.0			-2.5	0.0	5	dbSNP_130	49	132,49,2,8069		1,0,0,130,2,0,45,0,2,3946	no	intron	RICTOR	NM_152756.3		44,0,0,654,6,0,68,0,6,5481	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.2176,15.1195,6.6145			38954826	742,80,6,11690	2203	4300	6503	SO:0001623	5_prime_UTR_variant	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000503698.1:c.-26A>-	5.37:g.38954826delT				RNA	DEL	-	NULL	ENST00000503698.1	37	NULL		5																																																																																			RICTOR	-	-	ENSG00000164327		0.274	RICTOR-009	KNOWN	basic	processed_transcript	RICTOR	HGNC	protein_coding	OTTHUMT00000366993.1		0.00	21	0	T	NM_152756		38954826	-1	tier1		no_errors	ENST00000503698	ensembl	human	known	74_37	rna	20.83	38	10	DEL	0.000	-
RIF1	55183	genome.wustl.edu	37	2	152293790	152293790	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:152293790delT	ENST00000243326.5	+	12	1891	c.1408delT	c.(1408-1410)tttfs	p.F471fs	RIF1_ENST00000444746.2_Frame_Shift_Del_p.F471fs|RIF1_ENST00000430328.2_Frame_Shift_Del_p.F471fs|RIF1_ENST00000428287.2_Frame_Shift_Del_p.F471fs|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000453091.2_Frame_Shift_Del_p.F471fs			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CAGCCCTTCCTTTTTTTCCAA	0.343																																																	0													112.0	108.0	109.0					2																	152293790		2203	4300	6503	SO:0001589	frameshift_variant	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1408delT	2.37:g.152293790delT	ENSP00000243326:p.Phe471fs		A0AVS0|Q9NS16	Frame_Shift_Del	DEL	pfam_Rif1_N,superfamily_ARM-type_fold	p.S472fs	ENST00000243326.5	37	c.1408	CCDS2194.1	2																																																																																			RIF1	-	NULL	ENSG00000080345		0.343	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3		0.00	41	0	T			152293790	+1	tier1		no_errors	ENST00000243326	ensembl	human	known	74_37	frame_shift_del	37.29	37	22	DEL	1.000	-
RIMBP2	23504	genome.wustl.edu	37	12	130898732	130898732	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:130898732T>C	ENST00000261655.4	-	14	2753	c.2590A>G	c.(2590-2592)Atg>Gtg	p.M864V		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	864	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTTGGGGACATGGTGAGCGGG	0.577																																																	0													88.0	91.0	90.0					12																	130898732		2203	4300	6503	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2590A>G	12.37:g.130898732T>C	ENSP00000261655:p.Met864Val		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.M864V	ENST00000261655.4	37	c.2590	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453997	0.63290	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.59906	3.24;0.23	4.37	4.37	0.52481	Src homology-3 domain (3);Variant SH3 (1);	0.101189	0.64402	D	0.000003	T	0.59972	0.2233	M	0.81802	2.56	0.80722	D	1	B	0.26902	0.163	B	0.30943	0.122	T	0.58792	-0.7574	10	0.22109	T	0.4	-28.4319	13.8741	0.63643	0.0:0.0:0.0:1.0	.	864	O15034	RIMB2_HUMAN	V	864;1	ENSP00000261655:M864V;ENSP00000439030:M1V	ENSP00000261655:M864V	M	-	1	0	RIMBP2	129464685	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.916000	0.87491	1.720000	0.51447	0.528000	0.53228	ATG	RIMBP2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000060709		0.577	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0.00	37	0	T	NM_015347		130898732	-1	tier1	-	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	C
RIMS2	9699	genome.wustl.edu	37	8	104933054	104933054	+	Intron	DEL	A	A	-	rs61400627		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:104933054delA	ENST00000436393.2	+	8	1658				RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			cgtctctactaaaaaaaaaaa	0.547										HNSCC(12;0.0054)																																							0																																										SO:0001627	intron_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1418-846A>-	8.37:g.104933054delA			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	RNA	DEL	-	NULL	ENST00000436393.2	37	NULL		8																																																																																			RIMS2	-	-	ENSG00000176406		0.547	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1		0.00	10	0	A	NM_001100117		104933054	+1	tier1		no_errors	ENST00000501515	ensembl	human	known	74_37	rna	10.34	26	3	DEL	0.054	-
RIOK1	83732	genome.wustl.edu	37	6	7404247	7404247	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:7404247G>T	ENST00000379834.2	+	9	1348	c.841G>T	c.(841-843)Ggt>Tgt	p.G281C		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	281	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GAGTTTCATCGGTAAAGATGA	0.338																																																	0													197.0	193.0	195.0					6																	7404247		2203	4299	6502	SO:0001583	missense	0			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.841G>T	6.37:g.7404247G>T	ENSP00000369162:p.Gly281Cys		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1	p.G281C	ENST00000379834.2	37	c.841	CCDS4500.1	6	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527033	0.85706	.	.	ENSG00000124784	ENST00000379834	T	0.08896	3.04	5.56	5.56	0.83823	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.094060	0.64402	D	0.000001	T	0.37293	0.0998	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.56896	-0.7903	10	0.87932	D	0	-16.3219	18.5914	0.91214	0.0:0.0:1.0:0.0	.	281	Q9BRS2	RIOK1_HUMAN	C	281	ENSP00000369162:G281C	ENSP00000369162:G281C	G	+	1	0	RIOK1	7349246	1.000000	0.71417	0.954000	0.39281	0.771000	0.43674	9.400000	0.97290	2.623000	0.88846	0.650000	0.86243	GGT	RIOK1	-	pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1	ENSG00000124784		0.338	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK1	HGNC	protein_coding	OTTHUMT00000039780.2	-	0.00	65	0	G	NM_031480		7404247	+1	tier1	-	no_errors	ENST00000379834	ensembl	human	known	74_37	missense	29.55	31	13	SNP	1.000	T
RN7SKP228	106479196	genome.wustl.edu	37	7	12916462	12916462	+	RNA	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:12916462C>T	ENST00000411042.1	+	0	154									RNA, 7SK small nuclear pseudogene 228																		caagggtagacgagtagctgt	0.498																																																	0																																												0					7p21.3	2013-03-19			ENSG00000222974	ENSG00000222974			45952	pseudogene	RNA, pseudogene							Standard			Approved						7.37:g.12916462C>T				RNA	SNP	-	NULL	ENST00000411042.1	37	NULL		7																																																																																			RN7SKP228	-	-	ENSG00000222974		0.498	RN7SKP228-201	KNOWN	basic	misc_RNA	RN7SKP228	HGNC	misc_RNA		-	0.00	8	0	C			12916462	+1	tier1	-	no_errors	ENST00000411042	ensembl	human	known	74_37	rna	60.00	4	6	SNP	0.001	T
RNF10	9921	genome.wustl.edu	37	12	120984267	120984267	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:120984267delA	ENST00000325954.4	+	2	678	c.217delA	c.(217-219)aaafs	p.K73fs	RNF10_ENST00000413266.2_Frame_Shift_Del_p.K73fs	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	73	Ser-rich.				negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCTACCCCAAAAATGAAAG	0.443																																																	0													110.0	111.0	111.0					12																	120984267		2203	4300	6503	SO:0001589	frameshift_variant	0			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.217delA	12.37:g.120984267delA	ENSP00000322242:p.Lys73fs		Q92550|Q9NPP8|Q9ULW4	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.N74fs	ENST00000325954.4	37	c.217	CCDS9201.1	12																																																																																			RNF10	-	NULL	ENSG00000022840		0.443	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	HGNC	protein_coding	OTTHUMT00000401898.4		0.00	26	0	A			120984267	+1	tier1		no_errors	ENST00000413266	ensembl	human	known	74_37	frame_shift_del	34.62	17	9	DEL	1.000	-
RNF145	153830	genome.wustl.edu	37	5	158630642	158630642	+	5'UTR	DEL	T	T	-	rs74770414|rs202186112		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:158630642delT	ENST00000424310.2	-	0	343				RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000274542.2_Frame_Shift_Del_p.K26fs|RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			tttttttttcttttttttttt	0.363																																																	0													31.0	34.0	33.0					5																	158630642		2202	4300	6502	SO:0001623	5_prime_UTR_variant	0			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-17A>-	5.37:g.158630642delT			B7Z903|B7Z949|E7EVI7|Q8IVP7	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.K25fs	ENST00000424310.2	37	c.74	CCDS56390.1	5																																																																																			RNF145	-	NULL	ENSG00000145860		0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1		0.00	23	0	T	NM_144726		158630642	-1	tier1		no_errors	ENST00000518802	ensembl	human	known	74_37	frame_shift_del	30.00	21	9	DEL	0.000	-
RNF19A	25897	genome.wustl.edu	37	8	101277003	101277003	+	Missense_Mutation	SNP	C	C	T	rs138968684	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:101277003C>T	ENST00000519449.1	-	7	1518	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	RNF19A_ENST00000341084.2_Missense_Mutation_p.R401H|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	401					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCCTTCATAGCGATTGTGAAT	0.373																																																	0								C	HIS/ARG,HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	178.0	160.0	166.0		1202,1202	5.2	1.0	8	dbSNP_134	166	12,8588	8.4+/-32.0	0,12,4288	yes	missense,missense	RNF19A	NM_015435.3,NM_183419.1	29,29	0,14,6489	TT,TC,CC		0.1395,0.0454,0.1076	probably-damaging,probably-damaging	401/839,401/839	101277003	14,12992	2203	4300	6503	SO:0001583	missense	0			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1202G>A	8.37:g.101277003C>T	ENSP00000428968:p.Arg401His		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.R401H	ENST00000519449.1	37	c.1202	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	C	31	5.090733	0.94149	4.54E-4	0.001395	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84944	-1.92;-1.92	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.87826	0.6275	L	0.51914	1.62	0.80722	D	1	D	0.67145	0.996	P	0.53689	0.732	D	0.88492	0.3076	10	0.56958	D	0.05	.	18.7035	0.91629	0.0:1.0:0.0:0.0	.	401	Q9NV58	RN19A_HUMAN	H	401	ENSP00000428968:R401H;ENSP00000342667:R401H	ENSP00000342667:R401H	R	-	2	0	RNF19A	101346179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.445000	0.80570	2.583000	0.87209	0.650000	0.86243	CGC	RNF19A	-	NULL	ENSG00000034677		0.373	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	-	0.00	27	0	C	NM_015435		101277003	-1	tier1	rs138968684	no_errors	ENST00000341084	ensembl	human	known	74_37	missense	26.25	59	21	SNP	1.000	T
RNF213	57674	genome.wustl.edu	37	17	78360569	78360569	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:78360569C>A	ENST00000582970.1	+	63	14943	c.14800C>A	c.(14800-14802)Ctc>Atc	p.L4934I	RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.L3007I|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L4983I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4934					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCACTGATTCTCTCCAACTG	0.577																																																	0													75.0	67.0	69.0					17																	78360569		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14800C>A	17.37:g.78360569C>A	ENSP00000464087:p.Leu4934Ile		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L4934I	ENST00000582970.1	37	c.14800	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391815	0.83011	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.28666	1.6	5.04	4.06	0.47325	.	0.000000	0.64402	D	0.000006	T	0.55768	0.1941	M	0.85542	2.76	0.30636	N	0.756955	D	0.89917	1.0	D	0.83275	0.996	T	0.60546	-0.7242	10	0.42905	T	0.14	.	10.0391	0.42146	0.1375:0.7886:0.0:0.0739	.	3007	Q63HN8	RN213_HUMAN	I	4934;4983;3007;284	ENSP00000338218:L3007I	ENSP00000338218:L3007I	L	+	1	0	RNF213	75975164	0.883000	0.30277	0.933000	0.37362	0.981000	0.71138	1.742000	0.38248	1.103000	0.41568	0.561000	0.74099	CTC	RNF213	-	NULL	ENSG00000173821		0.577	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0.00	22	0	C	NM_020914		78360569	+1	tier1	-	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	23.26	33	10	SNP	0.998	A
RNF31	55072	genome.wustl.edu	37	14	24621199	24621199	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:24621199C>T	ENST00000324103.6	+	11	2448	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	RNF31_ENST00000559275.1_Missense_Mutation_p.R559W|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.R185W|RNF31_ENST00000382687.3_Missense_Mutation_p.R559W	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	710					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCCCCACAACCGGGTAAGTCC	0.592																																																	0													32.0	42.0	39.0					14																	24621199		1961	4149	6110	SO:0001583	missense	0			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2128C>T	14.37:g.24621199C>T	ENSP00000315112:p.Arg710Trp		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2	p.R710W	ENST00000324103.6	37	c.2128	CCDS41931.1	14	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647269	0.67358	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.46451	0.87;0.88	5.83	2.79	0.32731	Zinc finger, RING-type (1);	0.075828	0.53938	D	0.000059	T	0.54029	0.1833	L	0.43152	1.355	0.42751	D	0.993776	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.965;0.965;0.984	T	0.57636	-0.7777	10	0.87932	D	0	-13.1088	13.163	0.59554	0.6141:0.3859:0.0:0.0	.	469;710;559	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	W	152;710;559	ENSP00000315112:R710W;ENSP00000372134:R559W	ENSP00000315112:R710W	R	+	1	2	RNF31	23691039	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.005000	0.29834	0.764000	0.33197	0.655000	0.94253	CGG	RNF31	-	NULL	ENSG00000092098		0.592	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF31	HGNC	protein_coding	OTTHUMT00000071921.3	-	0.00	35	0	C	NM_017999		24621199	+1	tier1	-	no_errors	ENST00000324103	ensembl	human	known	74_37	missense	16.18	57	11	SNP	1.000	T
RNF32	140545	genome.wustl.edu	37	7	156437370	156437370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:156437370delA	ENST00000405335.1	+	4	602	c.193delA	c.(193-195)aaafs	p.K66fs	RNF32_ENST00000392741.2_Frame_Shift_Del_p.K66fs|RNF32_ENST00000317955.5_Frame_Shift_Del_p.K66fs|RNF32_ENST00000392740.1_Frame_Shift_Del_p.K66fs|RNF32_ENST00000311822.8_Frame_Shift_Del_p.K66fs|RNF32_ENST00000343665.4_Frame_Shift_Del_p.K66fs|RNF32_ENST00000392743.2_Frame_Shift_Del_p.K66fs|RNF32_ENST00000432459.2_Frame_Shift_Del_p.K66fs|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	66						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TACTGGACTTAAAAAAACTAC	0.373																																																	0													68.0	71.0	70.0					7																	156437370		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.193delA	7.37:g.156437370delA	ENSP00000385285:p.Lys66fs		Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING	p.T67fs	ENST00000405335.1	37	c.193	CCDS5944.1	7																																																																																			RNF32	-	NULL	ENSG00000105982		0.373	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF32	HGNC	protein_coding	OTTHUMT00000322660.2		0.00	16	0	A	NM_030936		156437370	+1	tier1		no_errors	ENST00000317955	ensembl	human	known	74_37	frame_shift_del	41.67	7	5	DEL	0.451	-
RNF4	6047	genome.wustl.edu	37	4	2514166	2514168	+	Splice_Site	DEL	AAG	AAG	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:2514166_2514168delAAG	ENST00000511600.1	+	6	1731_1733	c.216_218delAAG	c.(214-219)gaaaga>gaa	p.R75del	RNF4_ENST00000511843.1_3'UTR|RNF4_ENST00000506706.1_Splice_Site_p.R75del|RNF4_ENST00000314289.8_Splice_Site_p.R75del|RNF4_ENST00000541204.1_Splice_Site_p.R75del|RNF4_ENST00000511859.1_Intron			P78317	RNF4_HUMAN	ring finger protein 4	75					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				TTACCTTAGAAAGAAGAAGACCA	0.532																																																	0																																										SO:0001630	splice_region_variant	0			U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"""RING-type (C3HC4) zinc fingers"""	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.215-1AAG>-	4.37:g.2514172_2514174delAAG			B2R6D6|D6RF58|Q49AR8	In_Frame_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R75in_frame_del	ENST00000511600.1	37	c.216_218	CCDS47001.1	4																																																																																			RNF4	-	NULL	ENSG00000063978		0.532	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RNF4	HGNC	protein_coding	OTTHUMT00000360920.1		0.00	32	0	AAG	NM_002938	In_Frame_Del	2514168	+1			no_errors	ENST00000314289	ensembl	human	known	74_37	in_frame_del	10.39	69	8	DEL	0.165:0.148:0.116	0
RNF43	54894	genome.wustl.edu	37	17	56440667	56440667	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:56440667A>G	ENST00000584437.1	-	4	2506	c.551T>C	c.(550-552)gTg>gCg	p.V184A	RNF43_ENST00000577625.1_Missense_Mutation_p.V57A|RNF43_ENST00000577716.1_Missense_Mutation_p.V184A|RNF43_ENST00000583753.1_Missense_Mutation_p.V143A|RNF43_ENST00000581868.1_Missense_Mutation_p.V57A|RNF43_ENST00000500597.2_Missense_Mutation_p.V143A|RNF43_ENST00000407977.2_Missense_Mutation_p.V184A|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	184					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCAATCCTCACATGGGCCTT	0.572																																																	0													120.0	119.0	120.0					17																	56440667		2203	4300	6503	SO:0001583	missense	0				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.551T>C	17.37:g.56440667A>G	ENSP00000463069:p.Val184Ala		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING	p.V184A	ENST00000584437.1	37	c.551	CCDS11607.1	17	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114950	0.77210	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.09630	3.11;2.96	5.68	5.68	0.88126	.	0.137942	0.48286	D	0.000181	T	0.10680	0.0261	N	0.04508	-0.205	0.51482	D	0.999926	P;P;P	0.40000	0.698;0.623;0.642	P;P;B	0.52881	0.712;0.573;0.297	T	0.49969	-0.8882	10	0.14656	T	0.56	-4.671	15.0991	0.72258	1.0:0.0:0.0:0.0	.	143;184;184	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	A	184;143	ENSP00000385328:V184A;ENSP00000441969:V143A	ENSP00000385328:V184A	V	-	2	0	RNF43	53795666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.454000	0.90352	2.167000	0.68274	0.482000	0.46254	GTG	RNF43	-	NULL	ENSG00000108375		0.572	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	-	0.00	34	0	A	NM_017763		56440667	-1	tier1	-	no_errors	ENST00000407977	ensembl	human	known	74_37	missense	25.81	45	16	SNP	1.000	G
IPO11	51194	genome.wustl.edu	37	5	61739107	61739108	+	Intron	INS	-	-	A	rs573427719|rs530816177	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:61739107_61739108insA	ENST00000325324.6	+	3	408				IPO11_ENST00000409296.3_Intron|RNU6-661P_ENST00000362409.1_RNA|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11						ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		gtttgatatttAAAAAAAATGC	0.317													?|AAAAAAAA|AAAAAAAAA|unsure	4	0.000798722	0.003	0.0	5008	,	,		19653	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.239+197->A	5.37:g.61739115_61739115dupA			A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	RNA	INS	-	NULL	ENST00000325324.6	37	NULL	CCDS34167.1	5																																																																																			RNU6-661P	-	-	ENSG00000199279		0.317	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNU6-661P	HGNC	protein_coding	OTTHUMT00000335062.1		0.00	13	0	-	NM_016338		61739108	+1	tier1		no_errors	ENST00000362409	ensembl	human	known	74_37	rna	58.33	5	7	INS	0.003:0.007	A
ROM1	6094	genome.wustl.edu	37	11	62381084	62381084	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:62381084delG	ENST00000278833.3	+	1	872	c.331delG	c.(331-333)gggfs	p.G113fs	EML3_ENST00000394773.2_5'Flank|EML3_ENST00000529309.1_5'Flank|ROM1_ENST00000534093.1_Intron|EML3_ENST00000278845.4_5'Flank|EML3_ENST00000494176.2_5'Flank|EML3_ENST00000531557.1_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	113					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CACGGCTGGTGGGGGGGGGCT	0.677																																																	0													14.0	17.0	16.0					11																	62381084		2193	4287	6480	SO:0001589	frameshift_variant	0			L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.331delG	11.37:g.62381084delG	ENSP00000278833:p.Gly113fs		B2R978	Frame_Shift_Del	DEL	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1	p.L114fs	ENST00000278833.3	37	c.331	CCDS8024.1	11																																																																																			ROM1	-	pfam_Tetraspanin/Peripherin,prints_Peripherin/rom-1	ENSG00000149489		0.677	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROM1	HGNC	protein_coding	OTTHUMT00000394929.1		0.00	69	0	G	NM_000327		62381084	+1	tier1		no_errors	ENST00000278833	ensembl	human	known	74_37	frame_shift_del	35.90	75	42	DEL	0.023	-
RPE65	6121	genome.wustl.edu	37	1	68903930	68903931	+	Frame_Shift_Ins	INS	-	-	T	rs281865520		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:68903930_68903931insT	ENST00000262340.5	-	10	1120_1121	c.1067_1068insA	c.(1066-1068)aatfs	p.N356fs		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	356					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CCTTTCTGGCATTTTTTTTCAC	0.351																																																	0			GRCh37	CD972436	RPE65	D																																				SO:0001589	frameshift_variant	0			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1068dupA	1.37:g.68903938_68903938dupT	ENSP00000262340:p.Asn356fs		A8K1L0|Q5T9U3	Frame_Shift_Ins	INS	pfam_Carotenoid_Oase	p.N356fs	ENST00000262340.5	37	c.1068_1067	CCDS643.1	1																																																																																			RPE65	-	pfam_Carotenoid_Oase	ENSG00000116745		0.351	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1		0.00	48	0	-	NM_000329		68903931	-1	tier1		no_errors	ENST00000262340	ensembl	human	known	74_37	frame_shift_ins	30.30	46	20	INS	0.995:1.000	T
RPL12P38	645688	genome.wustl.edu	37	17	58512851	58512851	+	RNA	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:58512851G>A	ENST00000588627.1	-	0	506									ribosomal protein L12 pseudogene 38																		AGGATGCAGCGGCGCGCGGGC	0.532																																																	0																																												0					17q23.2	2013-01-23			ENSG00000213228	ENSG00000213228			36838	pseudogene	pseudogene						19123937	Standard	NG_010298		Approved				OTTHUMG00000157897		17.37:g.58512851G>A				RNA	SNP	-	NULL	ENST00000588627.1	37	NULL		17																																																																																			RPL12P38	-	-	ENSG00000213228		0.532	RPL12P38-002	KNOWN	basic	processed_transcript	RPL12P38	HGNC	pseudogene	OTTHUMT00000449464.1		0.00	17	0	G	NG_010298		58512851	-1			no_errors	ENST00000588627	ensembl	human	known	74_37	rna	24.00	19	6	SNP	0.015	A
RPL13	6137	genome.wustl.edu	37	16	89629407	89629407	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:89629407delG	ENST00000393099.3	+	5	842	c.593delG	c.(592-594)agafs	p.R198fs	RPL13_ENST00000311528.5_Frame_Shift_Del_p.R198fs|RPL13_ENST00000452368.3_Frame_Shift_Del_p.R151fs|RPL13_ENST00000567815.1_Frame_Shift_Del_p.R198fs|SNORD68_ENST00000363214.1_RNA	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	198					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|cytosolic ribosome (GO:0022626)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		CGGGCAAAAAGAGCCAAGGAA	0.527																																																	0													22.0	26.0	25.0					16																	89629407		2189	4283	6472	SO:0001589	frameshift_variant	0			AB007172	CCDS10979.1, CCDS58492.1	16q24.3	2011-04-06			ENSG00000167526	ENSG00000167526		"""L ribosomal proteins"""	10303	protein-coding gene	gene with protein product		113703				9582194	Standard	NM_000977		Approved	D16S444E, BBC1, L13	uc002fnm.2	P26373	OTTHUMG00000133770	ENST00000393099.3:c.593delG	16.37:g.89629407delG	ENSP00000376811:p.Arg198fs		B4DLX3|F5H1S2|Q3KQT8|Q567Q8|Q9BPX0	Frame_Shift_Del	DEL	pfam_Ribosomal_L13e	p.R198fs	ENST00000393099.3	37	c.593	CCDS10979.1	16																																																																																			RPL13	-	NULL	ENSG00000167526		0.527	RPL13-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL13	HGNC	protein_coding	OTTHUMT00000258294.2		0.00	23	0	G	NM_000977		89629407	+1	tier1		no_errors	ENST00000311528	ensembl	human	known	74_37	frame_shift_del	23.08	30	9	DEL	1.000	-
RPL18A	6142	genome.wustl.edu	37	19	17972276	17972276	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:17972276G>T	ENST00000222247.5	+	2	274	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	RPL18A_ENST00000600147.1_Missense_Mutation_p.G65W|RPL18A_ENST00000599898.1_Missense_Mutation_p.G26W|SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000599870.1_Missense_Mutation_p.G36W	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	65					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TGTCTACTGTGGGCAGGTATG	0.507																																																	0													31.0	33.0	32.0					19																	17972276		2203	4300	6503	SO:0001583	missense	0			AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"""L ribosomal proteins"""	10311	protein-coding gene	gene with protein product	"""60S ribosomal protein L18a"", ""ribosomal protein L18a-like protein"""	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.193G>T	19.37:g.17972276G>T	ENSP00000222247:p.Gly65Trp			Missense_Mutation	SNP	pfam_Ribosomal_L18a/LX	p.G65W	ENST00000222247.5	37	c.193	CCDS12367.1	19	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311497	0.40895	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	4.11	3.07	0.35406	Ribosomal protein L18a/LX (1);	0.000000	0.85682	U	0.000000	T	0.64789	0.2630	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	D	0.64506	0.926	T	0.65845	-0.6069	9	0.87932	D	0	.	9.8573	0.41092	0.1034:0.0:0.8966:0.0	.	65	Q02543	RL18A_HUMAN	W	65	.	ENSP00000222247:G65W	G	+	1	0	RPL18A	17833276	1.000000	0.71417	0.419000	0.26584	0.043000	0.13939	9.415000	0.97375	0.866000	0.35629	-0.251000	0.11542	GGG	RPL18A	-	pfam_Ribosomal_L18a/LX	ENSG00000105640		0.507	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL18A	HGNC	protein_coding	OTTHUMT00000466679.1	-	0.00	12	0	G	NM_000980		17972276	+1	tier1	-	no_errors	ENST00000222247	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.999	T
RPL22	6146	genome.wustl.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000497965.1_5'UTR|RPL22_ENST00000484532.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																			Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Deletion - Frameshift(1)	large_intestine(1)											62.0	55.0	57.0					1																	6257785		2203	4300	6503	SO:0001589	frameshift_variant	0			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs		B2R495|Q6IBD1	Frame_Shift_Del	DEL	pfam_Ribosomal_L22e	p.K15fs	ENST00000234875.4	37	c.44	CCDS58.1	1																																																																																			RPL22	-	pfam_Ribosomal_L22e	ENSG00000116251		0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL22	HGNC	protein_coding	OTTHUMT00000002830.1		0.00	25	0	T	NM_000983		6257785	-1	tier1		no_errors	ENST00000234875	ensembl	human	known	74_37	frame_shift_del	37.50	15	9	DEL	1.000	-
RPL41	6171	genome.wustl.edu	37	12	56510435	56510435	+	5'UTR	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:56510435delT	ENST00000546591.1	+	0	66				RP11-603J24.6_ENST00000550840.1_RNA|ZC3H10_ENST00000257940.2_5'Flank|RP11-603J24.17_ENST00000548595.1_RNA|RPL41_ENST00000501597.3_5'UTR	NM_001035267.1	NP_001030344.1	P62945	RL41_HUMAN	ribosomal protein L41						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)							OV - Ovarian serous cystadenocarcinoma(18;0.12)			CTTAGCGCCATTTTTTTGGGT	0.517																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AB007186	CCDS44919.1	12q13	2011-04-06			ENSG00000229117	ENSG00000229117		"""L ribosomal proteins"""	10354	protein-coding gene	gene with protein product		613315				1326959, 9582194	Standard	NM_021104		Approved	L41	uc001sjo.3	P62945		ENST00000546591.1:c.-137T>-	12.37:g.56510435delT			A6NG21|P28751	RNA	DEL	-	NULL	ENST00000546591.1	37	NULL	CCDS44919.1	12																																																																																			RPL41	-	-	ENSG00000229117		0.517	RPL41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL41	HGNC	protein_coding	OTTHUMT00000407819.1		0.00	25	0	T			56510435	+1	tier1		no_errors	ENST00000358888	ensembl	human	known	74_37	rna	20.00	28	7	DEL	1.000	-
RPLP0P2	113157	genome.wustl.edu	37	11	61405179	61405179	+	RNA	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:61405179delA	ENST00000496593.1	+	0	1783					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		ttacttctttaaaaaaaaaaa	0.299																																																	0																																												0			BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405179delA				RNA	DEL	-	NULL	ENST00000496593.1	37	NULL		11																																																																																			RPLP0P2	-	-	ENSG00000243742		0.299	RPLP0P2-002	KNOWN	basic	processed_transcript	RPLP0P2	HGNC	pseudogene	OTTHUMT00000350911.1		0.00	32	0	A	NR_002775		61405179	+1	tier1		no_errors	ENST00000496593	ensembl	human	known	74_37	rna	25.00	21	7	DEL	0.975	-
RPS10P7	376693	genome.wustl.edu	37	1	201489719	201489719	+	lincRNA	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:201489719delA	ENST00000441932.1	+	0	1889				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1				ribosomal protein S10 pseudogene 7																		ACTTACAGTCAAAAAAAaaaa	0.423																																																	0																																												0					1q32.1	2010-06-16				ENSG00000223396			36423	pseudogene	pseudogene						19123937	Standard	NR_026667		Approved		uc010ppt.3				1.37:g.201489719delA				RNA	DEL	-	NULL	ENST00000441932.1	37	NULL		1																																																																																			RPS10P7	-	-	ENSG00000223396		0.423	RPS10P7-001	KNOWN	basic	lincRNA	RPS10P7	HGNC	lincRNA	OTTHUMT00000087024.1		0.00	11	0	A	NR_026667		201489719	+1	tier1		no_errors	ENST00000441932	ensembl	human	known	74_37	rna	62.50	3	5	DEL	0.056	-
RPS26	6231	genome.wustl.edu	37	12	56436335	56436336	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:56436335_56436336delAT	ENST00000356464.5	+	2	444_445	c.130_131delAT	c.(130-132)atafs	p.I44fs	RP11-603J24.4_ENST00000551846.1_RNA|RPS26_ENST00000552361.1_Frame_Shift_Del_p.I44fs			P62854	RS26_HUMAN	ribosomal protein S26	44					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|small ribosomal subunit (GO:0015935)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CATTCGAAACATAGTGGAGGCC	0.55																																																	0																																										SO:0001589	frameshift_variant	0			AB007160	CCDS31832.1	12q13	2011-04-06				ENSG00000197728		"""S ribosomal proteins"""	10414	protein-coding gene	gene with protein product	"""40S ribosomal protein S26"""	603701				9582194, 8670309	Standard	NM_001029		Approved	S26	uc001sjf.3	P62854	OTTHUMG00000170139	ENST00000356464.5:c.130_131delAT	12.37:g.56436335_56436336delAT	ENSP00000348849:p.Ile44fs		P02383|P70394|Q06722|Q3MHD8|Q6IRY4	Frame_Shift_Del	DEL	pfam_Ribosomal_S26e	p.I44fs	ENST00000356464.5	37	c.130_131	CCDS31832.1	12																																																																																			RPS26	-	pfam_Ribosomal_S26e	ENSG00000197728		0.550	RPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS26	HGNC	protein_coding	OTTHUMT00000407616.1		0.00	50	0	AT	NM_001029		56436336	+1	tier1		no_errors	ENST00000356464	ensembl	human	known	74_37	frame_shift_del	33.00	67	33	DEL	1.000:0.998	-
RPS6KA5	9252	genome.wustl.edu	37	14	91366489	91366489	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:91366489delT	ENST00000261991.3	-	11	1515	c.1342delA	c.(1342-1344)agtfs	p.S448fs	RPS6KA5_ENST00000418736.2_Frame_Shift_Del_p.S448fs|RPS6KA5_ENST00000536315.2_Frame_Shift_Del_p.S369fs	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	448	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCTTGGTTACTTTTTTTATGC	0.323																																																	0													91.0	92.0	92.0					14																	91366489		2203	4300	6503	SO:0001589	frameshift_variant	0			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1342delA	14.37:g.91366489delT	ENSP00000261991:p.Ser448fs		O95316|Q96AF7	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.S448fs	ENST00000261991.3	37	c.1342	CCDS9893.1	14																																																																																			RPS6KA5	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000100784		0.323	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA5	HGNC	protein_coding	OTTHUMT00000411442.2		0.00	30	0	T	NM_004755		91366489	-1	tier1		no_errors	ENST00000261991	ensembl	human	known	74_37	frame_shift_del	58.25	43	60	DEL	1.000	-
RRP7A	27341	genome.wustl.edu	37	22	42910203	42910203	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:42910203G>A	ENST00000323013.6	-	6	681	c.666C>T	c.(664-666)agC>agT	p.S222S	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	222							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GCACCCGCAAGCTGGCTGCCT	0.662																																																	0													29.0	24.0	26.0					22																	42910203		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.666C>T	22.37:g.42910203G>A			A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	NULL	p.S222	ENST00000323013.6	37	c.666	CCDS14036.1	22																																																																																			RRP7A	-	NULL	ENSG00000189306		0.662	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP7A	HGNC	protein_coding	OTTHUMT00000320451.1	-	0.00	41	0	G	NM_015703		42910203	-1	tier1	-	no_errors	ENST00000323013	ensembl	human	known	74_37	silent	30.68	61	27	SNP	1.000	A
SERHL2	253190	genome.wustl.edu	37	22	42972025	42972025	+	IGR	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:42972025G>A	ENST00000327678.5	+	0	1374				RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2								hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						GCACCCGCAAGCTGGCTGCCT	0.667																																																	0																																										SO:0001628	intergenic_variant	0				CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892		22.37:g.42972025G>A			Q5JZ95|Q9UH21	RNA	SNP	-	NULL	ENST00000327678.5	37	NULL	CCDS14037.1	22																																																																																			RRP7B	-	-	ENSG00000182841		0.667	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP7B	HGNC	protein_coding	OTTHUMT00000320454.1		0.00	72	0	G	NM_014509		42972025	-1			no_errors	ENST00000357802	ensembl	human	known	74_37	rna	5.79	114	7	SNP	1.000	A
RTKN2	219790	genome.wustl.edu	37	10	63958149	63958149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:63958149delT	ENST00000373789.3	-	12	1444	c.1348delA	c.(1348-1350)attfs	p.I450fs	RTKN2_ENST00000395265.1_Frame_Shift_Del_p.I471fs|RTKN2_ENST00000315289.2_Frame_Shift_Del_p.I252fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I450fs*67(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTCTCTTCAATTTTTTTTTGT	0.333																																																	1	Deletion - Frameshift(1)	lung(1)											60.0	64.0	63.0					10																	63958149		2202	4299	6501	SO:0001589	frameshift_variant	0			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1348delA	10.37:g.63958149delT	ENSP00000362894:p.Ile450fs		Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I450fs	ENST00000373789.3	37	c.1348	CCDS7263.1	10																																																																																			RTKN2	-	NULL	ENSG00000182010		0.333	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1		0.00	43	0	T	NM_145307		63958149	-1	tier1		no_errors	ENST00000373789	ensembl	human	known	74_37	frame_shift_del	41.46	24	17	DEL	1.000	-
RTN2	6253	genome.wustl.edu	37	19	45996513	45996513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:45996513delG	ENST00000245923.4	-	5	1173	c.938delC	c.(937-939)cctfs	p.P313fs	RTN2_ENST00000590526.1_Frame_Shift_Del_p.P39fs|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000430715.2_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	313					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GACAGGAGTAGGGGGGGTGGG	0.567																																																	0													58.0	68.0	65.0					19																	45996513		2203	4300	6503	SO:0001589	frameshift_variant	0			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.938delC	19.37:g.45996513delG	ENSP00000245923:p.Pro313fs		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Frame_Shift_Del	DEL	pfam_Reticulon,pfscan_Reticulon	p.P313fs	ENST00000245923.4	37	c.938	CCDS12665.1	19																																																																																			RTN2	-	NULL	ENSG00000125744		0.567	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1		0.00	34	0	G	NM_005619		45996513	-1	tier1		no_errors	ENST00000245923	ensembl	human	known	74_37	frame_shift_del	44.00	14	11	DEL	0.005	-
RTN4	57142	genome.wustl.edu	37	2	55252408	55252408	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:55252408A>G	ENST00000337526.6	-	3	3070	c.2827T>C	c.(2827-2829)Tct>Cct	p.S943P	RTN4_ENST00000394611.2_Missense_Mutation_p.S737P|RTN4_ENST00000354474.6_Missense_Mutation_p.S711P|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.S737P|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.S737P|RTN4_ENST00000405240.1_Missense_Mutation_p.S737P	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	943					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GATGTAGCAGACCCATTTTTA	0.403																																																	0													115.0	115.0	115.0					2																	55252408		2203	4300	6503	SO:0001583	missense	0			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2827T>C	2.37:g.55252408A>G	ENSP00000337838:p.Ser943Pro		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.S943P	ENST00000337526.6	37	c.2827	CCDS42684.1	2	.	.	.	.	.	.	.	.	.	.	A	5.786	0.329426	0.10956	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.7	-0.592	0.11671	.	4.417470	0.01548	N	0.019578	T	0.11965	0.0291	L	0.27053	0.805	0.21147	N	0.999773	B	0.06786	0.001	B	0.04013	0.001	T	0.22173	-1.0224	10	0.16420	T	0.52	-0.1507	6.0869	0.19973	0.3883:0.1656:0.4461:0.0	.	943	Q9NQC3	RTN4_HUMAN	P	737;737;943;737;737;711	ENSP00000384471:S737P;ENSP00000349944:S737P;ENSP00000337838:S943P;ENSP00000378109:S737P;ENSP00000385650:S737P;ENSP00000346465:S711P	ENSP00000337838:S943P	S	-	1	0	RTN4	55105912	0.517000	0.26226	0.006000	0.13384	0.337000	0.28794	1.311000	0.33562	-0.076000	0.12775	0.533000	0.62120	TCT	RTN4	-	NULL	ENSG00000115310		0.403	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	-	0.00	41	0	A			55252408	-1	tier1	-	no_errors	ENST00000337526	ensembl	human	known	74_37	missense	11.54	46	6	SNP	0.376	G
RUNX1	861	genome.wustl.edu	37	21	36206863	36206863	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr21:36206863C>T	ENST00000344691.4	-	4	2145	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000325074.5_Missense_Mutation_p.G205R|RUNX1_ENST00000358356.5_Missense_Mutation_p.G190R|RUNX1_ENST00000300305.3_Missense_Mutation_p.G217R|RUNX1_ENST00000437180.1_Missense_Mutation_p.G217R	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	190	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GACAAGCTCCCGGGCTTGGTC	0.627			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																			Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0													66.0	72.0	70.0					21																	36206863		2203	4300	6503	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.568G>A	21.37:g.36206863C>T	ENSP00000340690:p.Gly190Arg		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	p.G217R	ENST00000344691.4	37	c.649	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310302	0.81358	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399245;ENST00000358356;ENST00000399237	D;D;D;D;D;D	0.99277	-4.15;-4.16;-4.16;-4.15;-5.67;-5.62	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000002	D	0.99230	0.9732	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.983;0.998;1.0;0.999	D	0.99705	1.1005	10	0.48119	T	0.1	-16.7975	18.0084	0.89216	0.0:1.0:0.0:0.0	.	217;190;217;190	Q2TAM6;Q01196-3;Q01196-8;Q01196	.;.;.;RUNX1_HUMAN	R	190;217;217;205;193;190;205	ENSP00000340690:G190R;ENSP00000300305:G217R;ENSP00000409227:G217R;ENSP00000319459:G205R;ENSP00000351123:G190R;ENSP00000382182:G205R	ENSP00000300305:G217R	G	-	1	0	RUNX1	35128733	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	5.850000	0.69473	2.254000	0.74563	0.407000	0.27541	GGG	RUNX1	-	pirsf_TF_Runt-rel_RUNX	ENSG00000159216		0.627	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	-	0.00	49	0	C			36206863	-1	tier1	-	no_errors	ENST00000300305	ensembl	human	known	74_37	missense	32.88	49	24	SNP	1.000	T
RUNX1T1	862	genome.wustl.edu	37	8	92988144	92988144	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:92988144C>A	ENST00000523629.1	-	10	1791	c.1337G>T	c.(1336-1338)tGg>tTg	p.W446L	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.W446L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.W419L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.W409L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.W409L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.W419L|GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.W409L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.W457L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	446					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGCTTTCTTCCAGATCTCCTC	0.478																																																	0													131.0	128.0	129.0					8																	92988144		2203	4300	6503	SO:0001583	missense	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1337G>T	8.37:g.92988144C>A	ENSP00000428543:p.Trp446Leu		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.W457L	ENST00000523629.1	37	c.1370	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049815	0.75846	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	M	0.82517	2.595	0.80722	D	1	P;B;D;B	0.76494	0.672;0.128;0.999;0.167	B;B;D;B	0.87578	0.41;0.091;0.998;0.079	T	0.62296	-0.6884	10	0.02654	T	1	-10.3999	20.4388	0.99107	0.0:1.0:0.0:0.0	.	457;409;446;419	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	L	446;419;446;409;409;409;457;419	ENSP00000428543:W446L;ENSP00000379520:W419L;ENSP00000265814:W446L;ENSP00000353504:W409L;ENSP00000390137:W409L;ENSP00000428742:W409L;ENSP00000402257:W457L;ENSP00000430728:W419L	ENSP00000265814:W446L	W	-	2	0	RUNX1T1	93057320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.720000	0.84759	2.836000	0.97738	0.655000	0.94253	TGG	RUNX1T1	-	NULL	ENSG00000079102		0.478	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	-	0.00	27	0	C	NM_004349, NM_175635		92988144	-1	tier1	-	no_errors	ENST00000436581	ensembl	human	known	74_37	missense	72.46	19	50	SNP	1.000	A
RUNX2	860	genome.wustl.edu	37	6	45296446	45296446	+	5'UTR	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:45296446delA	ENST00000371438.1	+	0	341				SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000459689.1_Intron|RUNX2_ENST00000371436.6_5'Flank|RUNX2_ENST00000483243.1_3'UTR|RUNX2_ENST00000541979.1_Frame_Shift_Del_p.K65fs|SUPT3H_ENST00000306867.5_Intron|RUNX2_ENST00000352853.5_Frame_Shift_Del_p.K65fs|RUNX2_ENST00000576263.1_5'Flank|RUNX2_ENST00000465038.2_5'UTR|SUPT3H_ENST00000371460.1_Intron	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2						BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTTCTATCTGAAAAAAAAAGG	0.388																																																	0													116.0	112.0	113.0					6																	45296446		1865	4103	5968	SO:0001623	5_prime_UTR_variant	0			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.-18A>-	6.37:g.45296446delA			O14614|O14615|O95181	Frame_Shift_Del	DEL	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt	p.G66fs	ENST00000371438.1	37	c.187	CCDS43467.2	6																																																																																			RUNX2	-	NULL	ENSG00000124813		0.388	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2		0.00	29	0	A	NM_004348		45296446	+1	tier1		no_errors	ENST00000352853	ensembl	human	known	74_37	frame_shift_del	34.48	19	10	DEL	0.983	-
RXFP1	59350	genome.wustl.edu	37	4	159554592	159554592	+	Missense_Mutation	SNP	C	C	T	rs200427299		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:159554592C>T	ENST00000307765.5	+	12	1186	c.935C>T	c.(934-936)cCg>cTg	p.P312L	RXFP1_ENST00000470033.1_Missense_Mutation_p.P279L|RXFP1_ENST00000343542.5_Intron|RXFP1_ENST00000448688.2_Missense_Mutation_p.P207L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P231L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATCTTCCACCGCTTATATTC	0.289																																																	0								C	LEU/PRO	0,3606		0,0,1803	76.0	75.0	75.0		935	3.9	0.5	4		75	2,8154		0,2,4076	yes	missense	RXFP1	NM_021634.2	98	0,2,5879	TT,TC,CC		0.0245,0.0,0.017	benign	312/758	159554592	2,11760	1803	4078	5881	SO:0001583	missense	0			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.935C>T	4.37:g.159554592C>T	ENSP00000303248:p.Pro312Leu		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.P312L	ENST00000307765.5	37	c.935	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074080	0.55646	0.0	2.45E-4	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000470033;ENST00000440678	T;T;T;T	0.60424	0.27;3.41;0.19;3.41	4.74	3.88	0.44766	.	0.172571	0.51477	D	0.000082	T	0.58177	0.2104	M	0.70903	2.155	0.46336	D	0.998998	B;P;B;P;B;P;P;P	0.46327	0.439;0.813;0.16;0.814;0.083;0.846;0.876;0.819	B;B;B;B;B;B;B;B	0.43658	0.072;0.426;0.072;0.3;0.044;0.426;0.412;0.158	T	0.58940	-0.7547	10	0.38643	T	0.18	.	12.0137	0.53301	0.1734:0.8266:0.0:0.0	.	323;339;207;279;231;182;249;312	B3KV27;B4DGP2;B4DHD1;Q9HBX9-2;E9PCA3;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	L	231;312;207;279;182	ENSP00000423306:P231L;ENSP00000303248:P312L;ENSP00000414885:P207L;ENSP00000420712:P279L	ENSP00000303248:P312L	P	+	2	0	RXFP1	159774042	0.429000	0.25530	0.519000	0.27824	0.888000	0.51559	0.781000	0.26774	0.947000	0.37659	0.491000	0.48974	CCG	RXFP1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000171509		0.289	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	-	0.00	72	0	C	NM_021634		159554592	+1	tier1	rs200427299	no_errors	ENST00000307765	ensembl	human	known	74_37	missense	29.69	45	19	SNP	0.892	T
RYR1	6261	genome.wustl.edu	37	19	38937180	38937180	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:38937180C>A	ENST00000359596.3	+	8	700	c.700C>A	c.(700-702)Cct>Act	p.P234T	RYR1_ENST00000355481.4_Missense_Mutation_p.P234T|RYR1_ENST00000360985.3_Missense_Mutation_p.P234T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	234	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GACCATTTCCCCTGCTGACAG	0.592																																																	0													99.0	82.0	88.0					19																	38937180		2203	4300	6503	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.700C>A	19.37:g.38937180C>A	ENSP00000352608:p.Pro234Thr		Q16314|Q16368|Q9NPK1|Q9P1U4	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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.P234T	ENST00000359596.3	37	c.700	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	9.530	1.110584	0.20714	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.85773	-2.03;-2.03;-2.03	5.03	-2.78	0.05859	MIR motif (2);MIR (2);	0.514536	0.17182	U	0.183833	T	0.54382	0.1855	N	0.01705	-0.755	0.09310	N	1	B;B	0.25169	0.119;0.05	B;B	0.28385	0.041;0.089	T	0.53975	-0.8362	10	0.15952	T	0.53	.	1.3014	0.02080	0.1248:0.2929:0.2736:0.3086	.	234;234	P21817-2;P21817	.;RYR1_HUMAN	T	234	ENSP00000352608:P234T;ENSP00000347667:P234T;ENSP00000354254:P234T	ENSP00000347667:P234T	P	+	1	0	RYR1	43629020	0.000000	0.05858	0.223000	0.23860	0.976000	0.68499	-0.165000	0.09968	-0.193000	0.10415	0.563000	0.77884	CCT	RYR1	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif	ENSG00000196218		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0.00	40	0	C			38937180	+1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.063	A
RYR1	6261	genome.wustl.edu	37	19	39019604	39019606	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:39019604_39019606delAGG	ENST00000359596.3	+	76	11048_11050	c.11048_11050delAGG	c.(11047-11052)caggag>cag	p.E3689del	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000355481.4_In_Frame_Del_p.E3684del|RYR1_ENST00000360985.3_In_Frame_Del_p.E3689del			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3689					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTGGggagcaggaggaggagga	0.576																																																	0									,	49,4215		1,47,2084					,	1.7	1.0			45	125,8129		5,115,4007	no	coding,coding	RYR1	NM_001042723.1,NM_000540.2	,	6,162,6091	A1A1,A1R,RR		1.5144,1.1492,1.39	,	,		174,12344				SO:0001651	inframe_deletion	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11048_11050delAGG	19.37:g.39019613_39019615delAGG	ENSP00000352608:p.Glu3689del		Q16314|Q16368|Q9NPK1|Q9P1U4	In_Frame_Del	DEL	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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E3687in_frame_del	ENST00000359596.3	37	c.11048_11050	CCDS33011.1	19																																																																																			RYR1	-	NULL	ENSG00000196218		0.576	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1		0.00	23	0	AGG			39019606	+1	tier1		no_errors	ENST00000359596	ensembl	human	known	74_37	in_frame_del	35.29	11	6	DEL	1.000:1.000:1.000	-
SAAL1	113174	genome.wustl.edu	37	11	18103046	18103046	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:18103046G>A	ENST00000524803.1	-	11	1293	c.1244C>T	c.(1243-1245)aCg>aTg	p.T415M	SAAL1_ENST00000300013.4_Missense_Mutation_p.T414M|SAAL1_ENST00000529318.1_Missense_Mutation_p.T417M			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	415										breast(2)|large_intestine(5)|lung(8)	15						CTGAGCCACCGTCTCCTAAAA	0.388																																																	0													96.0	92.0	93.0					11																	18103046		2200	4293	6493	SO:0001583	missense	0			AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.1244C>T	11.37:g.18103046G>A	ENSP00000432487:p.Thr415Met		A6NH05	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T415M	ENST00000524803.1	37	c.1244	CCDS31439.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.39|11.39	1.624090|1.624090	0.28889|0.28889	.|.	.|.	ENSG00000166788|ENSG00000166788	ENST00000532452|ENST00000524803;ENST00000300013;ENST00000529318	.|T;T;T	.|0.31769	.|1.48;1.48;1.48	6.03|6.03	1.69|1.69	0.24217|0.24217	.|.	.|0.525534	.|0.23038	.|N	.|0.052656	T|T	0.13841|0.13841	0.0335|0.0335	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|D;P;P	.|0.54397	.|0.966;0.938;0.938	.|B;B;B	.|0.39185	.|0.293;0.293;0.293	T|T	0.13845|0.13845	-1.0494|-1.0494	5|9	.|.	.|.	.|.	-0.2204|-0.2204	2.0626|2.0626	0.03596|0.03596	0.1594:0.1015:0.3469:0.3921|0.1594:0.1015:0.3469:0.3921	.|.	.|417;415;415	.|E9PRZ1;G1UCX3;Q96ER3	.|.;.;SAAL1_HUMAN	W|M	74|415;414;417	.|ENSP00000432487:T415M;ENSP00000300013:T414M;ENSP00000432216:T417M	.|.	R|T	-|-	1|2	2|0	SAAL1|SAAL1	18059622|18059622	0.388000|0.388000	0.25197|0.25197	0.212000|0.212000	0.23672|0.23672	0.620000|0.620000	0.37586|0.37586	0.748000|0.748000	0.26305|0.26305	0.423000|0.423000	0.26033|0.26033	0.551000|0.551000	0.68910|0.68910	CGG|ACG	SAAL1	-	NULL	ENSG00000166788		0.388	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAAL1	HGNC	protein_coding	OTTHUMT00000389728.1		0.00	13	0	G	NM_138421		18103046	-1			no_errors	ENST00000524803	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.011	A
SBNO2	22904	genome.wustl.edu	37	19	1122525	1122525	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:1122525G>A	ENST00000361757.3	-	10	1184	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SBNO2_ENST00000587024.1_Missense_Mutation_p.A316V|SBNO2_ENST00000438103.2_Missense_Mutation_p.A259V	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	316					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGCGCTCCGCATCGTACTT	0.716																																																	0													10.0	10.0	10.0					19																	1122525		1915	4092	6007	SO:0001583	missense	0			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.947C>T	19.37:g.1122525G>A	ENSP00000354733:p.Ala316Val		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.A316V	ENST00000361757.3	37	c.947	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668976	0.67814	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	D;D	0.93366	-3.21;-3.21	4.03	2.99	0.34606	.	0.057630	0.64402	N	0.000002	D	0.95843	0.8647	M	0.79343	2.45	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;P;D;D	0.91635	0.999;0.903;0.993;0.988	D	0.95047	0.8183	10	0.59425	D	0.04	-13.6818	10.7363	0.46126	0.0953:0.0:0.9047:0.0	.	259;316;316;259	B4DL53;B4DV91;Q9Y2G9;Q9Y2G9-3	.;.;SBNO2_HUMAN;.	V	316;259;322	ENSP00000354733:A316V;ENSP00000400762:A259V	ENSP00000250872:A322V	A	-	2	0	SBNO2	1073525	1.000000	0.71417	0.451000	0.26982	0.288000	0.27193	9.621000	0.98376	0.793000	0.33875	0.561000	0.74099	GCG	SBNO2	-	superfamily_P-loop_NTPase	ENSG00000064932		0.716	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	-	0.00	13	0	G	NM_014963		1122525	-1	tier1	-	no_errors	ENST00000361757	ensembl	human	known	74_37	missense	35.71	9	5	SNP	1.000	A
SAFB	6294	genome.wustl.edu	37	19	5653399	5653399	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:5653399C>T	ENST00000292123.5	+	11	1601	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D	SAFB_ENST00000454510.1_Silent_p.D429D|SAFB_ENST00000592224.1_Silent_p.D498D|SAFB_ENST00000588852.1_Silent_p.D498D|SAFB_ENST00000538656.1_Silent_p.D341D|SAFB_ENST00000433404.1_Silent_p.D328D	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	498					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GAGACAGTGACGGGAAAAAGG	0.423																																					Colon(88;338 1345 6184 8214 20897)												0													57.0	54.0	55.0					19																	5653399		2203	4300	6503	SO:0001819	synonymous_variant	0			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1494C>T	19.37:g.5653399C>T			A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Silent	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.D498	ENST00000292123.5	37	c.1494	CCDS12142.1	19																																																																																			SAFB	-	NULL	ENSG00000160633		0.423	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	-	0.00	15	0	C			5653399	+1	tier1	-	no_errors	ENST00000588852	ensembl	human	known	74_37	silent	39.13	14	9	SNP	0.048	T
SCAF1	58506	genome.wustl.edu	37	19	50158042	50158042	+	Frame_Shift_Del	DEL	C	C	-	rs149487378		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:50158042delC	ENST00000360565.3	+	9	3657	c.3533delC	c.(3532-3534)accfs	p.T1178fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1178					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGCGGTTCGACCCCCCCCACC	0.692																																																	0													24.0	27.0	26.0					19																	50158042		2199	4289	6488	SO:0001589	frameshift_variant	0			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3533delC	19.37:g.50158042delC	ENSP00000353769:p.Thr1178fs		Q7Z5V7|Q8WVA1|Q9NR59	Frame_Shift_Del	DEL	NULL	p.T1181fs	ENST00000360565.3	37	c.3533	CCDS33074.1	19																																																																																			SCAF1	-	NULL	ENSG00000126461		0.692	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1		0.00	11	0	C	NM_021228		50158042	+1	tier1		no_errors	ENST00000360565	ensembl	human	known	74_37	frame_shift_del	60.00	4	6	DEL	0.934	-
SCARB1	949	genome.wustl.edu	37	12	125292390	125292390	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:125292390G>T	ENST00000415380.2	-	7	1051	c.926C>A	c.(925-927)gCc>gAc	p.A309D	SCARB1_ENST00000261693.6_Missense_Mutation_p.A309D|SCARB1_ENST00000540495.1_Missense_Mutation_p.A272D|SCARB1_ENST00000376788.1_Missense_Mutation_p.A209D|SCARB1_ENST00000546215.1_Missense_Mutation_p.A309D|SCARB1_ENST00000541205.1_Missense_Mutation_p.A268D|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Missense_Mutation_p.A255D|SCARB1_ENST00000339570.5_Missense_Mutation_p.A309D			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	309					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GGACCCGTTGGCAAACAGGGT	0.567																																																	0													119.0	99.0	106.0					12																	125292390		2203	4300	6503	SO:0001583	missense	0			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.926C>A	12.37:g.125292390G>T	ENSP00000414979:p.Ala309Asp		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	pfam_CD36,prints_CD36,prints_CD36_antigen	p.A309D	ENST00000415380.2	37	c.926		12	.	.	.	.	.	.	.	.	.	.	G	31	5.069082	0.93950	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.57	5.57	0.84162	.	0.102508	0.64402	D	0.000003	T	0.80949	0.4722	M	0.62154	1.92	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.97110	1.0;0.978;1.0;1.0;0.955;1.0	T	0.80236	-0.1466	10	0.49607	T	0.09	-55.8852	19.5555	0.95345	0.0:0.0:1.0:0.0	.	268;309;309;309;309;309	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	D	309;309;309;209;309;268;255;272	ENSP00000343795:A309D;ENSP00000414979:A309D;ENSP00000261693:A309D;ENSP00000365984:A209D;ENSP00000442862:A309D;ENSP00000446107:A268D;ENSP00000444851:A255D;ENSP00000443286:A272D	ENSP00000261693:A309D	A	-	2	0	SCARB1	123858343	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.940000	0.92958	2.619000	0.88677	0.491000	0.48974	GCC	SCARB1	-	pfam_CD36	ENSG00000073060		0.567	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	HGNC	protein_coding	OTTHUMT00000400165.1		0.00	34	0	G	NM_005505		125292390	-1			no_errors	ENST00000415380	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T
SCN4B	6330	genome.wustl.edu	37	11	118006753	118006754	+	3'UTR	DEL	GG	GG	-	rs576946955|rs5795119|rs5795117|rs545793192	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:118006753_118006754delGG	ENST00000324727.4	-	0	1821_1822				SCN4B_ENST00000423160.2_5'UTR	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit						AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGGCACGGTGGGGGGGGGGGA	0.668																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.*989CC>-	11.37:g.118006761_118006762delGG			E9PPT5|Q6PIG5	RNA	DEL	-	NULL	ENST00000324727.4	37	NULL	CCDS8389.1	11																																																																																			SCN4B	-	-	ENSG00000177098		0.668	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN4B	HGNC	protein_coding	OTTHUMT00000392326.1		0.00	8	0	GG			118006754	-1	tier1		no_errors	ENST00000423160	ensembl	human	known	74_37	rna	25.00	12	4	DEL	0.004:0.004	-
SCOC	60592	genome.wustl.edu	37	4	141302186	141302186	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:141302186A>G	ENST00000608372.1	+	4	435	c.408A>G	c.(406-408)ggA>ggG	p.G136G	SCOC_ENST00000394201.4_Silent_p.G59G|SCOC_ENST00000510586.1_Silent_p.G59G|SCOC_ENST00000338517.4_Silent_p.G99G|SCOC_ENST00000506597.1_Silent_p.G108G|SCOC_ENST00000512749.1_Silent_p.G59G|SCOC_ENST00000394203.3_Silent_p.G99G|SCOC_ENST00000506322.1_Silent_p.G59G|SCOC_ENST00000502535.1_Silent_p.G59G|SCOC_ENST00000394205.3_Silent_p.G99G			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	136					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					AAGTTCTTGGACAATATATAG	0.323																																																	0													49.0	54.0	53.0					4																	141302186		2203	4298	6501	SO:0001819	synonymous_variant	0			AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"""short coiled coil protein"""			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.408A>G	4.37:g.141302186A>G			B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Silent	SNP	pfam_DUF2205_coiled-coil	p.G136	ENST00000608372.1	37	c.408	CCDS54806.1	4																																																																																			SCOC	-	pfam_DUF2205_coiled-coil	ENSG00000153130		0.323	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCOC	HGNC	protein_coding	OTTHUMT00000257274.2	-	0.00	31	0	A			141302186	+1	tier1	-	no_errors	ENST00000608372	ensembl	human	known	74_37	silent	24.32	28	9	SNP	0.999	G
SCPEP1	59342	genome.wustl.edu	37	17	55058513	55058513	+	Silent	SNP	C	C	A	rs376140010		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:55058513C>A	ENST00000262288.3	+	2	202	c.147C>A	c.(145-147)gcC>gcA	p.A49A	SCPEP1_ENST00000571898.1_3'UTR|RP5-1107A17.4_ENST00000572877.1_RNA	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	49					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.A49A(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GCAAGGATGCCTACATGTTCT	0.512																																																	1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	145.0	117.0	126.0		147	-5.2	1.0	17		126	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCPEP1	NM_021626.2		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		49/453	55058513	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.147C>A	17.37:g.55058513C>A			Q96A94|Q9H3F0	Missense_Mutation	SNP	NULL	p.L38I	ENST00000262288.3	37	c.112	CCDS11593.1	17																																																																																			SCPEP1	-	NULL	ENSG00000121064		0.512	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCPEP1	HGNC	protein_coding	OTTHUMT00000440622.1	-	0.00	50	0	C	NM_021626		55058513	+1	tier1	-	no_errors	ENST00000575423	ensembl	human	known	74_37	missense	42.50	46	34	SNP	0.011	A
SCUBE2	57758	genome.wustl.edu	37	11	9090982	9090982	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:9090982C>A	ENST00000309263.3	-	5	650	c.578G>T	c.(577-579)aGg>aTg	p.R193M	SCUBE2_ENST00000520467.1_Missense_Mutation_p.R193M|SCUBE2_ENST00000450649.2_Missense_Mutation_p.R193M|SCUBE2_ENST00000457346.2_Missense_Mutation_p.R193M			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	193	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GACGCTGCCCCTTGGGGCCTC	0.567																																																	0													117.0	102.0	107.0					11																	9090982		2201	4296	6497	SO:0001583	missense	0			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.578G>T	11.37:g.9090982C>A	ENSP00000310658:p.Arg193Met		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.R193M	ENST00000309263.3	37	c.578		11	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254450	0.59212	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	4.79	-1.16	0.09678	Epidermal growth factor-like (1);	0.285984	0.42548	D	0.000681	D	0.83175	0.5197	N	0.17872	0.535	0.38445	D	0.946814	D;P;P	0.53462	0.96;0.937;0.885	P;P;P	0.58721	0.844;0.819;0.664	T	0.81097	-0.1087	10	0.62326	D	0.03	.	9.0897	0.36603	0.0:0.4027:0.0:0.5973	.	193;193;193	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	M	193	ENSP00000390481:R193M;ENSP00000310658:R193M;ENSP00000415187:R193M;ENSP00000429969:R193M	ENSP00000310658:R193M	R	-	2	0	SCUBE2	9047558	1.000000	0.71417	0.277000	0.24703	0.951000	0.60555	1.371000	0.34250	-0.038000	0.13624	0.655000	0.94253	AGG	SCUBE2	-	smart_EG-like_dom	ENSG00000175356		0.567	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	-	0.00	21	0	C	NM_020974		9090982	-1	tier1	-	no_errors	ENST00000457346	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.931	A
SDCBP2	27111	genome.wustl.edu	37	20	1293248	1293248	+	Silent	SNP	G	G	A	rs151023134		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:1293248G>A	ENST00000360779.3	-	6	716	c.543C>T	c.(541-543)gtC>gtT	p.V181V	SDCBP2_ENST00000467129.1_5'Flank|SDCBP2_ENST00000381812.1_Silent_p.V181V|SDCBP2_ENST00000381808.3_Silent_p.V96V|SDCBP2_ENST00000339987.3_Silent_p.V181V	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	181	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GAACCACCACGACAATCTTAT	0.627																																																	0								G	,,	1,4405	2.1+/-5.4	0,1,2202	104.0	88.0	94.0		543,288,543	3.6	1.0	20	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SDCBP2	NM_001199784.1,NM_015685.5,NM_080489.4	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	181/293,96/208,181/293	1293248	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.543C>T	20.37:g.1293248G>A			O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V181	ENST00000360779.3	37	c.543	CCDS42848.1	20																																																																																			SDCBP2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000125775		0.627	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCBP2	HGNC	protein_coding	OTTHUMT00000077513.2	-	0.00	46	0	G	NM_080489		1293248	-1	tier1	rs151023134	no_errors	ENST00000339987	ensembl	human	known	74_37	silent	54.74	62	75	SNP	1.000	A
SDS	10993	genome.wustl.edu	37	12	113831717	113831717	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:113831717G>A	ENST00000257549.4	-	7	880	c.758C>T	c.(757-759)gCc>gTc	p.A253V		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	253					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	CTCAATGGCGGCCACAGCCTC	0.587																																																	0													90.0	82.0	85.0					12																	113831717		2203	4300	6503	SO:0001583	missense	0			J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.758C>T	12.37:g.113831717G>A	ENSP00000257549:p.Ala253Val		A8K9P5	Missense_Mutation	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	p.A253V	ENST00000257549.4	37	c.758	CCDS9169.1	12	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234141	0.39498	.	.	ENSG00000135094	ENST00000257549	D	0.97114	-4.25	5.67	1.68	0.24146	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.836392	0.10833	N	0.629119	D	0.93874	0.8040	L	0.57536	1.79	0.09310	N	0.999999	B	0.21606	0.058	B	0.21546	0.035	D	0.87349	0.2336	10	0.72032	D	0.01	-9.006	0.5939	0.00733	0.2942:0.1719:0.3574:0.1765	.	253	P20132	SDHL_HUMAN	V	253	ENSP00000257549:A253V	ENSP00000257549:A253V	A	-	2	0	SDS	112316100	0.000000	0.05858	0.967000	0.41034	0.938000	0.57974	0.199000	0.17237	1.411000	0.46957	0.561000	0.74099	GCC	SDS	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	ENSG00000135094		0.587	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDS	HGNC	protein_coding	OTTHUMT00000404790.1	-	0.00	13	0	G	NM_006843		113831717	-1	tier1	-	no_errors	ENST00000257549	ensembl	human	known	74_37	missense	42.86	16	12	SNP	0.294	A
SEC14L1	6397	genome.wustl.edu	37	17	75208083	75208083	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:75208083G>A	ENST00000413679.2	+	15	1966	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	SEC14L1_ENST00000591437.1_Missense_Mutation_p.V521M|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V555M|SEC14L1_ENST00000436233.4_Missense_Mutation_p.V555M|SEC14L1_ENST00000585618.1_Missense_Mutation_p.V555M|SEC14L1_ENST00000431431.2_Missense_Mutation_p.V521M|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V555M|SEC14L1_ENST00000430767.4_Missense_Mutation_p.V555M	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	555	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGATTTCGACGTGTGCAAAGG	0.537																																																	0													222.0	225.0	224.0					17																	75208083		2203	4300	6503	SO:0001583	missense	0			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1663G>A	17.37:g.75208083G>A	ENSP00000394716:p.Val555Met		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.V555M	ENST00000413679.2	37	c.1663	CCDS11752.1	17	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815732	0.90790	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.19	5.19	0.71726	GOLD (2);	0.137769	0.56097	D	0.000025	T	0.61035	0.2315	M	0.70595	2.14	0.80722	D	1	D;P	0.60575	0.988;0.942	P;P	0.52217	0.693;0.497	T	0.66818	-0.5827	10	0.87932	D	0	-41.9133	18.055	0.89362	0.0:0.0:1.0:0.0	.	555;555	Q92503-2;Q92503	.;S14L1_HUMAN	M	555;555;555;555;555;521	ENSP00000376268:V555M;ENSP00000406030:V555M;ENSP00000390392:V555M;ENSP00000408169:V555M;ENSP00000394716:V555M;ENSP00000389838:V521M	ENSP00000376268:V555M	V	+	1	0	SEC14L1	72719678	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.465000	0.80898	2.570000	0.86706	0.655000	0.94253	GTG	SEC14L1	-	superfamily_GOLD,pfscan_GOLD	ENSG00000129657		0.537	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	-	0.00	27	0	G	NM_003003		75208083	+1	tier1	-	no_errors	ENST00000392476	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	A
SEC14L5	9717	genome.wustl.edu	37	16	5061151	5061152	+	Frame_Shift_Ins	INS	-	-	C	rs546621651	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:5061151_5061152insC	ENST00000251170.7	+	15	2036_2037	c.1856_1857insC	c.(1855-1860)agccccfs	p.SP619fs	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	619	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAATGCACAGCCCCCCCAGCA	0.663																																																	0										17,3811		0,17,1897						-0.2	0.0			25	8,7966		0,8,3979	no	frameshift	SEC14L5	NM_014692.1		0,25,5876	A1A1,A1R,RR		0.1003,0.4441,0.2118				25,11777				SO:0001589	frameshift_variant	0			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1863dupC	16.37:g.5061158_5061158dupC	ENSP00000251170:p.Ser619fs			Frame_Shift_Ins	INS	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.S622fs	ENST00000251170.7	37	c.1856_1857	CCDS45403.1	16																																																																																			SEC14L5	-	superfamily_GOLD,pfscan_GOLD	ENSG00000103184		0.663	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1		0.00	48	0	-			5061152	+1	tier1		no_errors	ENST00000251170	ensembl	human	known	74_37	frame_shift_ins	25.00	78	26	INS	0.002:0.000	C
SEC24A	10802	genome.wustl.edu	37	5	133997018	133997018	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:133997018G>T	ENST00000398844.2	+	2	595	c.307G>T	c.(307-309)Ggt>Tgt	p.G103C	SEC24A_ENST00000322887.4_Missense_Mutation_p.G103C	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	103	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTTCATAGTGGTCCTGCTCC	0.507																																																	0													142.0	143.0	142.0					5																	133997018		1990	4178	6168	SO:0001583	missense	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.307G>T	5.37:g.133997018G>T	ENSP00000381823:p.Gly103Cys		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.G103C	ENST00000398844.2	37	c.307	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291000	0.40494	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.97232	-4.3;-4.3	5.15	4.26	0.50523	.	0.305164	0.34178	N	0.004200	D	0.94175	0.8131	L	0.40543	1.245	0.54753	D	0.999987	P	0.38167	0.621	B	0.36186	0.219	D	0.94252	0.7494	10	0.54805	T	0.06	-0.9787	14.2339	0.65911	0.0735:0.0:0.9265:0.0	.	103	O95486	SC24A_HUMAN	C	103	ENSP00000381823:G103C;ENSP00000321749:G103C	ENSP00000321749:G103C	G	+	1	0	SEC24A	134024917	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	3.146000	0.50631	2.674000	0.91012	0.655000	0.94253	GGT	SEC24A	-	NULL	ENSG00000113615		0.507	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	-	0.00	73	0	G			133997018	+1	tier1	-	no_errors	ENST00000398844	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.975	T
SELK	58515	genome.wustl.edu	37	3	53920927	53920927	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:53920927delT	ENST00000495461.1	-	3	344	c.145delA	c.(145-147)agafs	p.R50fs	SELK_ENST00000485414.1_5'Flank|SELK_ENST00000541726.1_Frame_Shift_Del_p.R50fs			Q9Y6D0	SELK_HUMAN		50			R -> S (in dbSNP:rs11562).		calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|protein palmitoylation (GO:0018345)|regulation of protein transport (GO:0051223)|respiratory burst after phagocytosis (GO:0045728)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)									BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TAGCTTCTTCTTTTTTTCACA	0.323																																																	0													47.0	43.0	44.0					3																	53920927		1816	4070	5886	SO:0001589	frameshift_variant	0																														ENST00000495461.1:c.145delA	3.37:g.53920927delT	ENSP00000418813:p.Arg50fs		Q8IZQ3|Q9P085	Frame_Shift_Del	DEL	pfam_Se_SelK/SelG	p.R49fs	ENST00000495461.1	37	c.145	CCDS54597.1	3																																																																																			SELK	-	pfam_Se_SelK/SelG	ENSG00000113811		0.323	SELK-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELK	Uniprot_gn	protein_coding	OTTHUMT00000351659.1		0.00	31	0	T			53920927	-1	tier1		no_errors	ENST00000541726	ensembl	human	known	74_37	frame_shift_del	56.52	10	13	DEL	0.878	-
SEMA3F	6405	genome.wustl.edu	37	3	50222192	50222192	+	Silent	SNP	C	C	T	rs139236502		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:50222192C>T	ENST00000002829.3	+	13	1885	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	SEMA3F_ENST00000434342.1_Silent_p.A436A|SEMA3F_ENST00000413852.1_Silent_p.A368A	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	467	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCACTATTGCCGTGGACCAGG	0.667																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	66.0	56.0	59.0		1401	-7.0	0.3	3	dbSNP_134	59	0,8598		0,0,4299	no	coding-synonymous	SEMA3F	NM_004186.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		467/786	50222192	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1401C>T	3.37:g.50222192C>T			C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Silent	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.A467	ENST00000002829.3	37	c.1401	CCDS2811.1	3																																																																																			SEMA3F	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000001617		0.667	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3F	HGNC	protein_coding	OTTHUMT00000345929.1	-	0.00	69	0	C	NM_004186		50222192	+1	tier1	rs139236502	no_errors	ENST00000002829	ensembl	human	known	74_37	silent	55.93	26	33	SNP	0.135	T
SERPINB10	5273	genome.wustl.edu	37	18	61584739	61584739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:61584739delA	ENST00000238508.3	+	3	277	c.218delA	c.(217-219)gaafs	p.E73fs		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	73					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R76fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCTGAAAGTGAAAAAAAAAGG	0.284																																																	1	Deletion - Frameshift(1)	large_intestine(1)								39,129,4010		1,0,37,2,125,1924	26.0	26.0	26.0			5.3	1.0	18		27	67,232,7845		0,0,67,0,232,3773	no	codingComplex	SERPINB10	NM_005024.1		1,0,104,2,357,5697	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6714,4.0211,3.79			61584739	106,361,11855	2173	4255	6428	SO:0001589	frameshift_variant	0			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.218delA	18.37:g.61584739delA	ENSP00000238508:p.Glu73fs		Q4VAX4|Q4VAX7	Frame_Shift_Del	DEL	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R76fs	ENST00000238508.3	37	c.218	CCDS11990.1	18																																																																																			SERPINB10	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000242550		0.284	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB10	HGNC	protein_coding	OTTHUMT00000134012.3		0.00	26	0	A	NM_005024		61584739	+1	tier1		no_errors	ENST00000238508	ensembl	human	known	74_37	frame_shift_del	28.57	20	8	DEL	0.998	-
SETD1A	9739	genome.wustl.edu	37	16	30990868	30990868	+	Missense_Mutation	SNP	C	C	T	rs368108050		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:30990868C>T	ENST00000262519.8	+	14	4447	c.3761C>T	c.(3760-3762)gCg>gTg	p.A1254V		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1254					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GTGGACCTGGCGGTCCTGGCC	0.721																																																	0								C	VAL/ALA	0,4342		0,0,2171	11.0	16.0	15.0		3761	5.0	0.9	16		15	2,8492		0,2,4245	no	missense	SETD1A	NM_014712.1	64	0,2,6416	TT,TC,CC		0.0235,0.0,0.0156	benign	1254/1708	30990868	2,12834	2171	4247	6418	SO:0001583	missense	0			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3761C>T	16.37:g.30990868C>T	ENSP00000262519:p.Ala1254Val		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.A1254V	ENST00000262519.8	37	c.3761	CCDS32435.1	16	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136690	0.37728	0.0	2.35E-4	ENSG00000099381	ENST00000262519	D	0.94897	-3.55	4.96	4.96	0.65561	.	0.278989	0.32819	N	0.005610	D	0.88691	0.6505	N	0.24115	0.695	0.30520	N	0.768475	B	0.32781	0.384	B	0.22152	0.038	D	0.85194	0.1011	10	0.29301	T	0.29	.	16.9682	0.86291	0.0:1.0:0.0:0.0	.	1254	O15047	SET1A_HUMAN	V	1254	ENSP00000262519:A1254V	ENSP00000262519:A1254V	A	+	2	0	SETD1A	30898369	0.970000	0.33590	0.933000	0.37362	0.941000	0.58515	2.084000	0.41625	2.292000	0.77174	0.563000	0.77884	GCG	SETD1A	-	NULL	ENSG00000099381		0.721	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	-	0.00	9	0	C	NM_014712		30990868	+1	tier1	-	no_errors	ENST00000262519	ensembl	human	known	74_37	missense	75.00	2	6	SNP	0.926	T
SETDB1	9869	genome.wustl.edu	37	1	150917540	150917540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:150917540C>T	ENST00000271640.5	+	9	1286	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368963.1_3'UTR|SETDB1_ENST00000368969.4_Nonsense_Mutation_p.R366*|SETDB1_ENST00000368962.2_Nonsense_Mutation_p.R366*	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	366	Tudor 2.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTGGAAGTCCCGAGTTGAGGA	0.542																																																	0													118.0	103.0	108.0					1																	150917540		2203	4300	6503	SO:0001587	stop_gained	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1096C>T	1.37:g.150917540C>T	ENSP00000271640:p.Arg366*		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Nonsense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.R366*	ENST00000271640.5	37	c.1096	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023168	0.93462	.	.	ENSG00000143379	ENST00000271640;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000498193	.	.	.	5.83	5.83	0.93111	.	0.167341	0.47852	D	0.000202	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0084	0.64481	0.2515:0.7485:0.0:0.0	.	.	.	.	X	366	.	ENSP00000271640:R366X	R	+	1	2	SETDB1	149184164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.122000	0.50446	2.775000	0.95449	0.650000	0.86243	CGA	SETDB1	-	smart_Tudor	ENSG00000143379		0.542	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	-	0.00	82	0	C			150917540	+1	tier1	-	no_errors	ENST00000271640	ensembl	human	known	74_37	nonsense	15.22	117	21	SNP	1.000	T
SETDB1	9869	genome.wustl.edu	37	1	150931756	150931756	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:150931756G>A	ENST00000271640.5	+	15	2623	c.2433G>A	c.(2431-2433)caG>caA	p.Q811Q	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.Q811Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	811	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAAGACACAGAACAAGGGCT	0.438																																																	0													195.0	193.0	193.0					1																	150931756		2203	4300	6503	SO:0001819	synonymous_variant	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2433G>A	1.37:g.150931756G>A			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.Q811	ENST00000271640.5	37	c.2433	CCDS44217.1	1																																																																																			SETDB1	-	smart_SET_dom,pfscan_SET_dom	ENSG00000143379		0.438	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	-	0.00	91	0	G			150931756	+1	tier1	-	no_errors	ENST00000271640	ensembl	human	known	74_37	silent	33.33	68	34	SNP	1.000	A
SF1	7536	genome.wustl.edu	37	11	64536544	64536545	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:64536544_64536545delAC	ENST00000377390.3	-	8	1173_1174	c.836_837delGT	c.(835-837)tgtfs	p.C279fs	SF1_ENST00000377387.1_Frame_Shift_Del_p.C404fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.C279fs|SF1_ENST00000422298.2_Frame_Shift_Del_p.C164fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.C253fs|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Frame_Shift_Del_p.C279fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.C279fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	279					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CACACTTGGTACACACTGTGGT	0.51																																																	0																																										SO:0001589	frameshift_variant	0			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.836_837delGT	11.37:g.64536548_64536549delAC	ENSP00000366607:p.Cys279fs		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.C279fs	ENST00000377390.3	37	c.837_836	CCDS31599.1	11																																																																																			SF1	-	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	ENSG00000168066		0.510	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1		0.00	38	0	AC	NM_004630		64536545	-1	tier1		no_errors	ENST00000377390	ensembl	human	known	74_37	frame_shift_del	30.95	58	26	DEL	0.968:1.000	-
SF3B2	10992	genome.wustl.edu	37	11	65827296	65827296	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:65827296C>T	ENST00000322535.6	+	13	1494	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	SF3B2_ENST00000528302.1_Missense_Mutation_p.A465V	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	482					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GATGTGACAGCGCAGGACCCT	0.562																																																	0													103.0	84.0	90.0					11																	65827296		2201	4295	6496	SO:0001583	missense	0			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1445C>T	11.37:g.65827296C>T	ENSP00000318861:p.Ala482Val		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom	p.A482V	ENST00000322535.6	37	c.1445	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.570422	0.96540	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.96	5.96	0.96718	Domain of unknown function DUF382 (1);	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	H	0.94423	3.535	0.80722	D	1	D	0.62365	0.991	P	0.58721	0.844	D	0.88685	0.3205	9	0.72032	D	0.01	-21.0026	17.913	0.88940	0.0:1.0:0.0:0.0	.	482	Q13435	SF3B2_HUMAN	V	465;482;386	.	ENSP00000318861:A482V	A	+	2	0	SF3B2	65583872	1.000000	0.71417	0.343000	0.25615	0.956000	0.61745	7.353000	0.79414	2.831000	0.97527	0.650000	0.86243	GCG	SF3B2	-	pfam_DUF382	ENSG00000087365		0.562	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	-	0.00	34	0	C			65827296	+1	tier1	-	no_errors	ENST00000322535	ensembl	human	known	74_37	missense	11.61	99	13	SNP	0.999	T
SF3B3	23450	genome.wustl.edu	37	16	70590170	70590170	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:70590170A>T	ENST00000302516.5	+	14	2010	c.1799A>T	c.(1798-1800)cAg>cTg	p.Q600L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	600					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CCTGGAGAGCAGCGGTCTCGC	0.537																																																	0													239.0	195.0	210.0					16																	70590170		2198	4300	6498	SO:0001583	missense	0			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1799A>T	16.37:g.70590170A>T	ENSP00000305790:p.Gln600Leu		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.Q600L	ENST00000302516.5	37	c.1799	CCDS10894.1	16	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887927	0.33348	.	.	ENSG00000189091	ENST00000302516	T	0.30981	1.51	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	L	0.28014	0.82	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03818	-1.1001	10	0.25106	T	0.35	.	15.5219	0.75871	1.0:0.0:0.0:0.0	.	600	Q15393	SF3B3_HUMAN	L	600	ENSP00000305790:Q600L	ENSP00000305790:Q600L	Q	+	2	0	SF3B3	69147671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.082000	0.62665	0.533000	0.62120	CAG	SF3B3	-	superfamily_WD40_repeat_dom	ENSG00000189091		0.537	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	-	0.00	51	0	A	NM_012426		70590170	+1	tier1	-	no_errors	ENST00000302516	ensembl	human	known	74_37	missense	46.46	53	46	SNP	1.000	T
SH2D4B	387694	genome.wustl.edu	37	10	82402760	82402760	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:82402760C>T	ENST00000470604.2	+	8	1203				SH2D4B_ENST00000372150.3_Intron|SH2D4B_ENST00000313455.4_Intron|SH2D4B_ENST00000339284.2_Intron			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B											endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			gtctgattaccactgatgctg	0.433																																																	0																																										SO:0001627	intron_variant	0				CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.1204-989C>T	10.37:g.82402760C>T			Q5SQS5|Q6ZVW9|Q6ZVZ3	RNA	SNP	-	NULL	ENST00000470604.2	37	NULL		10																																																																																			SH2D4B	-	-	ENSG00000178217		0.433	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	SH2D4B	HGNC	protein_coding		-	0.00	37	0	C	XM_351984		82402760	+1	tier1	-	no_errors	ENST00000481537	ensembl	human	known	74_37	rna	14.29	36	6	SNP	0.000	T
SH3PXD2B	285590	genome.wustl.edu	37	5	171809111	171809111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:171809111delG	ENST00000311601.5	-	5	500	c.330delC	c.(328-330)cccfs	p.P110fs	SH3PXD2B_ENST00000519643.1_Frame_Shift_Del_p.P110fs	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	110	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGAGATGTAGGGGGGCAGCT	0.557																																																	0													29.0	31.0	30.0					5																	171809111		2203	4300	6503	SO:0001589	frameshift_variant	0			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.330delC	5.37:g.171809111delG	ENSP00000309714:p.Pro110fs		B6F0V2|Q9P2Q1	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.Y111fs	ENST00000311601.5	37	c.330	CCDS34291.1	5																																																																																			SH3PXD2B	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000174705		0.557	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	HGNC	protein_coding	OTTHUMT00000372449.1		0.00	17	0	G	NM_017963		171809111	-1	tier1		no_errors	ENST00000311601	ensembl	human	known	74_37	frame_shift_del	81.40	8	35	DEL	1.000	-
SIK1	150094	genome.wustl.edu	37	21	44839827	44839827	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr21:44839827C>T	ENST00000270162.6	-	9	1163	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	344					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CTCCTTGAGCCGCTCAAGGAG	0.617																																																	0													47.0	45.0	45.0					21																	44839827		2200	4297	6497	SO:0001583	missense	0			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1031G>A	21.37:g.44839827C>T	ENSP00000270162:p.Arg344Gln		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R344Q	ENST00000270162.6	37	c.1031	CCDS33575.1	21	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757680	0.89843	.	.	ENSG00000142178	ENST00000270162	T	0.74737	-0.87	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.88055	0.6334	M	0.85197	2.74	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.89845	0.4005	10	0.72032	D	0.01	.	18.649	0.91423	0.0:1.0:0.0:0.0	.	344	P57059	SIK1_HUMAN	Q	344	ENSP00000270162:R344Q	ENSP00000270162:R344Q	R	-	2	0	SIK1	43664255	1.000000	0.71417	0.982000	0.44146	0.187000	0.23431	5.289000	0.65656	2.400000	0.81607	0.561000	0.74099	CGG	SIK1	-	pirsf_Ser/Thr_kinase_SIK1/2	ENSG00000142178		0.617	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	HGNC	protein_coding	OTTHUMT00000195654.1	-	0.00	30	0	C	NM_173354		44839827	-1	tier1	-	no_errors	ENST00000270162	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	T
SIRT7	51547	genome.wustl.edu	37	17	79872373	79872373	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:79872373C>T	ENST00000328666.6	-	7	675	c.613G>A	c.(613-615)Gtg>Atg	p.V205M		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	205	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AACACCCGCACGTACTCCCTG	0.637																																																	0													87.0	78.0	81.0					17																	79872373		2203	4299	6502	SO:0001583	missense	0			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.613G>A	17.37:g.79872373C>T	ENSP00000329466:p.Val205Met		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.V205M	ENST00000328666.6	37	c.613	CCDS11792.1	17	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021570	0.07634	.	.	ENSG00000187531	ENST00000328666;ENST00000536038	T	0.42131	0.98	4.37	2.07	0.26955	.	0.237201	0.35525	N	0.003152	T	0.33235	0.0856	L	0.48877	1.53	0.51482	D	0.999928	B;B	0.31318	0.182;0.319	B;B	0.29942	0.075;0.109	T	0.16808	-1.0390	10	0.44086	T	0.13	-20.941	10.2375	0.43292	0.1437:0.7752:0.0:0.0811	.	205;205	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	M	205;188	ENSP00000329466:V205M	ENSP00000329466:V205M	V	-	1	0	SIRT7	77465665	0.996000	0.38824	0.071000	0.20095	0.009000	0.06853	3.375000	0.52410	0.825000	0.34637	-0.272000	0.10252	GTG	SIRT7	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	ENSG00000187531		0.637	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT7	HGNC	protein_coding	OTTHUMT00000439961.1	-	0.00	26	0	C	NM_016538		79872373	-1	tier1	-	no_errors	ENST00000328666	ensembl	human	known	74_37	missense	50.00	32	32	SNP	0.944	T
SIX3	6496	genome.wustl.edu	37	2	45171872	45171872	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:45171872C>T	ENST00000260653.3	+	2	1314	c.972C>T	c.(970-972)acC>acT	p.T324T	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	324					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTCGGTAACCTCCAGCGACT	0.677																																																	0													21.0	22.0	21.0					2																	45171872		2085	4077	6162	SO:0001819	synonymous_variant	0			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.972C>T	2.37:g.45171872C>T			D6W5A5|Q53T42	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.T324	ENST00000260653.3	37	c.972	CCDS1821.1	2																																																																																			SIX3	-	NULL	ENSG00000138083		0.677	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX3	HGNC	protein_coding	OTTHUMT00000326192.1	-	0.00	15	0	C	NM_005413		45171872	+1	tier1	-	no_errors	ENST00000260653	ensembl	human	known	74_37	silent	44.07	33	26	SNP	1.000	T
SLC12A7	10723	genome.wustl.edu	37	5	1085510	1085510	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:1085510G>A	ENST00000264930.5	-	7	797	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	252					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCGTACACACGCATGTTGTGC	0.652																																																	0													74.0	53.0	60.0					5																	1085510		2192	4299	6491	SO:0001583	missense	0			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.754C>T	5.37:g.1085510G>A	ENSP00000264930:p.Arg252Cys		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.R252C	ENST00000264930.5	37	c.754	CCDS34129.1	5	.	.	.	.	.	.	.	.	.	.	g	17.73	3.461073	0.63513	.	.	ENSG00000113504	ENST00000264930	D	0.87334	-2.24	3.58	2.6	0.31112	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95033	0.8392	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94990	0.8133	10	0.87932	D	0	.	9.9247	0.41485	0.0:0.0:0.7054:0.2946	.	252	Q9Y666	S12A7_HUMAN	C	252	ENSP00000264930:R252C	ENSP00000264930:R252C	R	-	1	0	SLC12A7	1138510	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	4.658000	0.61497	1.730000	0.51580	0.550000	0.68814	CGT	SLC12A7	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000113504		0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2		0.00	26	0	G	NM_006598		1085510	-1			no_errors	ENST00000264930	ensembl	human	known	74_37	missense	7.32	114	9	SNP	1.000	A
EPHB4	2050	genome.wustl.edu	37	7	100424578	100424579	+	Intron	DEL	CC	CC	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:100424578_100424579delCC	ENST00000358173.3	-	1	521				EPHB4_ENST00000477446.1_Intron|EPHB4_ENST00000360620.3_Intron	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACGGGGTGCGCCCCCCCCCGCA	0.683																																					GBM(200;2113 3072 25865 52728)												0																																										SO:0001627	intron_variant	0			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.52+21GG>-	7.37:g.100424584_100424585delCC			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	RNA	DEL	-	NULL	ENST00000358173.3	37	NULL	CCDS5706.1	7																																																																																			SLC12A9	-	-	ENSG00000146828		0.683	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A9	HGNC	protein_coding	OTTHUMT00000347222.1		0.00	14	0	CC	NM_004444		100424579	+1	tier1		no_errors	ENST00000461016	ensembl	human	putative	74_37	rna	27.59	21	8	DEL	0.002:0.080	-
SLC14A2	8170	genome.wustl.edu	37	18	43248420	43248420	+	Missense_Mutation	SNP	G	G	A	rs145938404	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:43248420G>A	ENST00000255226.6	+	15	2830	c.2014G>A	c.(2014-2016)Gtc>Atc	p.V672I	SLC14A2_ENST00000586448.1_Missense_Mutation_p.V672I|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.V149I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	672					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTGCTACCCGTCATCATCAT	0.512																																																	0								G	ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	228.0	182.0	197.0		2014,2014	3.0	0.3	18	dbSNP_134	197	0,8600		0,0,4300	no	missense,missense	SLC14A2	NM_001242692.1,NM_007163.3	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	672/921,672/921	43248420	2,13004	2203	4300	6503	SO:0001583	missense	0			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2014G>A	18.37:g.43248420G>A	ENSP00000255226:p.Val672Ile		A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	pfam_Urea_transporter	p.V672I	ENST00000255226.6	37	c.2014	CCDS11924.1	18	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585979	0.28268	4.54E-4	0.0	ENSG00000132874	ENST00000255226	T	0.52754	0.65	4.83	3.04	0.35103	.	0.133306	0.33253	N	0.005105	T	0.47322	0.1439	M	0.78344	2.41	0.80722	D	1	B	0.12630	0.006	B	0.18561	0.022	T	0.40701	-0.9549	10	0.30854	T	0.27	-32.171	11.1738	0.48588	0.1494:0.0:0.8506:0.0	.	672	Q15849	UT2_HUMAN	I	672	ENSP00000255226:V672I	ENSP00000255226:V672I	V	+	1	0	SLC14A2	41502418	0.983000	0.35010	0.298000	0.25002	0.548000	0.35241	2.157000	0.42320	0.635000	0.30488	0.563000	0.77884	GTC	SLC14A2	-	pfam_Urea_transporter	ENSG00000132874		0.512	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	HGNC	protein_coding	OTTHUMT00000255858.1	-	0.00	88	0	G			43248420	+1	tier1	rs145938404	no_errors	ENST00000255226	ensembl	human	known	74_37	missense	20.41	78	20	SNP	0.856	A
SLC16A8	23539	genome.wustl.edu	37	22	38474461	38474461	+	Silent	SNP	G	G	A	rs140740838|rs377373294	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:38474461G>A	ENST00000320521.5	-	5	1557	c.1449C>T	c.(1447-1449)agC>agT	p.S483S	SLC16A8_ENST00000469516.1_5'UTR	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	483					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|lactate transmembrane transport (GO:0035873)|lactate transport (GO:0015727)|leukocyte migration (GO:0050900)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	CGCCCCGGGCGCTGAGCACCT	0.647																																																	0													47.0	51.0	50.0					22																	38474461		2203	4300	6503	SO:0001819	synonymous_variant	0			AF132610	CCDS13966.1	22q12.3-q13.2	2013-07-18	2013-07-18		ENSG00000100156	ENSG00000100156		"""Solute carriers"""	16270	protein-coding gene	gene with protein product	"""monocarboxylate transporter 3"""	610409	"""solute carrier 16 (monocarboxylic acid transporters), member 8"""			10493836	Standard	NM_013356		Approved	MCT3, REMP	uc003auu.3	O95907	OTTHUMG00000151196	ENST00000320521.5:c.1449C>T	22.37:g.38474461G>A			Q9UBE2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.S483	ENST00000320521.5	37	c.1449	CCDS13966.1	22																																																																																			SLC16A8	-	NULL	ENSG00000100156		0.647	SLC16A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A8	HGNC	protein_coding	OTTHUMT00000321724.1	-	0.00	19	0	G	NM_013356		38474461	-1	tier1	-	no_errors	ENST00000320521	ensembl	human	known	74_37	silent	20.75	42	11	SNP	0.990	A
SLC25A41	284427	genome.wustl.edu	37	19	6430130	6430131	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:6430130_6430131insC	ENST00000321510.6	-	3	473_474	c.405_406insG	c.(403-408)gggctafs	p.L136fs		NM_173637.3	NP_775908.2			solute carrier family 25, member 41											large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ATGCTCTGTAGCCCCCCCAGCA	0.629																																																	0																																										SO:0001589	frameshift_variant	0			AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"""Solute carriers"""	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.406dupG	19.37:g.6430137_6430137dupC	ENSP00000322649:p.Leu136fs			Frame_Shift_Ins	INS	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.L135fs	ENST00000321510.6	37	c.406_405	CCDS45937.1	19																																																																																			SLC25A41	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000181240		0.629	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000462222.1		0.00	30	0	-	NM_173637		6430131	-1	tier1		no_errors	ENST00000321510	ensembl	human	known	74_37	frame_shift_ins	17.11	63	13	INS	0.009:0.003	C
SLC26A8	116369	genome.wustl.edu	37	6	35944996	35944996	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:35944996A>G	ENST00000490799.1	-	9	1511	c.1158T>C	c.(1156-1158)agT>agC	p.S386S	SLC26A8_ENST00000394602.2_Silent_p.S281S|SLC26A8_ENST00000355574.2_Silent_p.S386S	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGGAATTGACACTGTAATTGT	0.408																																																	0													114.0	106.0	109.0					6																	35944996		2203	4300	6503	SO:0001819	synonymous_variant	0			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1158T>C	6.37:g.35944996A>G				Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.S386	ENST00000490799.1	37	c.1158	CCDS4813.1	6																																																																																			SLC26A8	-	pfam_Sulph_transpt	ENSG00000112053		0.408	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	-	0.00	35	0	A			35944996	-1	tier1	-	no_errors	ENST00000355574	ensembl	human	known	74_37	silent	30.00	21	9	SNP	0.000	G
SLC29A1	2030	genome.wustl.edu	37	6	44201262	44201262	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:44201262G>A	ENST00000393841.1	+	14	1859	c.1368G>A	c.(1366-1368)gtG>gtA	p.V456V	SLC29A1_ENST00000371755.3_Silent_p.V456V|SLC29A1_ENST00000313248.7_Silent_p.V535V|SLC29A1_ENST00000371731.1_Silent_p.V456V|SLC29A1_ENST00000427851.2_Silent_p.V456V|SLC29A1_ENST00000371708.1_Silent_p.V456V|SLC29A1_ENST00000371740.5_Silent_p.V456V|SLC29A1_ENST00000393844.1_Silent_p.V456V|SLC29A1_ENST00000371713.1_Silent_p.V456V|SLC29A1_ENST00000371724.1_Silent_p.V456V	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	456					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	GGGCAATTGTGTGACAAAGGA	0.592																																																	0													145.0	123.0	130.0					6																	44201262		2203	4300	6503	SO:0001819	synonymous_variant	0			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.1368G>A	6.37:g.44201262G>A			B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.V535	ENST00000393841.1	37	c.1605	CCDS4908.1	6																																																																																			SLC29A1	-	tigrfam_Eqnu_transpt	ENSG00000112759		0.592	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	-	0.00	32	0	G			44201262	+1	tier1	-	no_errors	ENST00000313248	ensembl	human	known	74_37	silent	29.79	33	14	SNP	1.000	A
SLC2A8	29988	genome.wustl.edu	37	9	130166382	130166382	+	Intron	DEL	C	C	-	rs386738655|rs10819287	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:130166382delC	ENST00000373371.3	+	7	1065				SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Intron	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8						carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						CCCCGCCATGCGGGGGAGGGC	0.602																																																	0													11.0	12.0	12.0					9																	130166382		2181	4263	6444	SO:0001627	intron_variant	0			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.976+36C>-	9.37:g.130166382delC			Q8WUZ9|Q9NSC4	RNA	DEL	-	NULL	ENST00000373371.3	37	NULL	CCDS6870.1	9																																																																																			SLC2A8	-	-	ENSG00000136856		0.602	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A8	HGNC	protein_coding	OTTHUMT00000054177.1		0.00	31	0	C	NM_014580		130166382	+1	tier1		no_errors	ENST00000485806	ensembl	human	known	74_37	rna	30.88	47	21	DEL	0.000	-
SLC2A6	11182	genome.wustl.edu	37	9	136339152	136339152	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:136339152G>A	ENST00000371899.4	-	7	1063	c.986C>T	c.(985-987)gCc>gTc	p.A329V	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.A329V	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	329					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGTGAGGGCGGCGATCAGCAC	0.687																																																	0													36.0	31.0	33.0					9																	136339152		2197	4299	6496	SO:0001583	missense	0			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.986C>T	9.37:g.136339152G>A	ENSP00000360966:p.Ala329Val		A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.A329V	ENST00000371899.4	37	c.986	CCDS6975.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.468748	0.96274	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	T;T	0.78481	-1.18;-1.18	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.052327	0.85682	D	0.000000	D	0.88779	0.6529	M	0.83953	2.67	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;D	0.71184	0.958;0.972	D	0.89487	0.3754	10	0.54805	T	0.06	.	18.0848	0.89454	0.0:0.0:1.0:0.0	.	329;329	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	V	329	ENSP00000360964:A329V;ENSP00000360966:A329V	ENSP00000360964:A329V	A	-	2	0	SLC2A6	135328973	1.000000	0.71417	0.774000	0.31636	0.844000	0.47949	9.050000	0.93843	2.532000	0.85374	0.561000	0.74099	GCC	SLC2A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000160326		0.687	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	HGNC	protein_coding	OTTHUMT00000054909.1	-	0.00	64	0	G	NM_017585		136339152	-1	tier1	-	no_errors	ENST00000371899	ensembl	human	known	74_37	missense	31.62	93	43	SNP	0.997	A
SLC4A1AP	22950	genome.wustl.edu	37	2	27917513	27917513	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:27917513A>G	ENST00000326019.6	+	14	2636	c.2354A>G	c.(2353-2355)gAt>gGt	p.D785G		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	785						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CAAAGTGGAGATGGCAGAACC	0.358																																																	0													99.0	97.0	97.0					2																	27917513		2203	4300	6503	SO:0001583	missense	0				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.2354A>G	2.37:g.27917513A>G	ENSP00000323837:p.Asp785Gly		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	pfam_FHA_dom,pfam_dsRNA-bd_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.D785G	ENST00000326019.6	37	c.2354	CCDS33166.1	2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108762	0.77096	.	.	ENSG00000163798	ENST00000326019	T	0.61980	0.06	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78298	0.4261	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80710	-0.1261	10	0.72032	D	0.01	-22.9137	13.7224	0.62735	1.0:0.0:0.0:0.0	.	785	Q9BWU0	NADAP_HUMAN	G	785	ENSP00000323837:D785G	ENSP00000323837:D785G	D	+	2	0	SLC4A1AP	27771017	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.209000	0.72171	2.285000	0.76669	0.533000	0.62120	GAT	SLC4A1AP	-	NULL	ENSG00000163798		0.358	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1AP	HGNC	protein_coding	OTTHUMT00000324550.1	-	0.00	53	0	A	NM_018158		27917513	+1	tier1	-	no_errors	ENST00000326019	ensembl	human	known	74_37	missense	30.30	45	20	SNP	1.000	G
SLC5A10	125206	genome.wustl.edu	37	17	18916758	18916758	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:18916758C>T	ENST00000395645.3	+	10	1036	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	SLC5A10_ENST00000395643.2_Missense_Mutation_p.R313W|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R356W|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R273W|SLC5A10_ENST00000317977.6_Missense_Mutation_p.R273W	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	340					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CGAGTGCCTGCGGGCCTGCGG	0.627																																																	0													62.0	54.0	57.0					17																	18916758		2203	4300	6503	SO:0001583	missense	0				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1018C>T	17.37:g.18916758C>T	ENSP00000379007:p.Arg340Trp		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R356W	ENST00000395645.3	37	c.1066	CCDS42275.1	17	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095605	0.56075	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000395645;ENST00000395643	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	4.04	2.99	0.34606	.	0.284419	0.34002	N	0.004360	D	0.93291	0.7862	M	0.84846	2.72	0.45307	D	0.998307	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	P;P;P;D	0.66716	0.761;0.846;0.888;0.946	D	0.93250	0.6634	10	0.87932	D	0	.	9.1701	0.37076	0.1604:0.6835:0.1561:0.0	.	313;340;356;273	A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;SC5AA_HUMAN;.;.	W	273;356;273;340;313	ENSP00000324346:R273W;ENSP00000379008:R356W;ENSP00000379004:R273W;ENSP00000379007:R340W;ENSP00000379005:R313W	ENSP00000324346:R273W	R	+	1	2	SLC5A10	18857483	0.002000	0.14202	1.000000	0.80357	0.423000	0.31445	0.370000	0.20433	1.978000	0.57642	0.313000	0.20887	CGG	SLC5A10	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000154025		0.627	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A10	HGNC	protein_coding	OTTHUMT00000132129.2	-	0.00	35	0	C	NM_152351		18916758	+1	tier1	-	no_errors	ENST00000395647	ensembl	human	known	74_37	missense	43.52	61	47	SNP	1.000	T
SLC6A13	6540	genome.wustl.edu	37	12	369121	369121	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:369121C>T	ENST00000343164.4	-	2	150	c.98G>A	c.(97-99)gGg>gAg	p.G33E	SLC6A13_ENST00000445055.2_Missense_Mutation_p.G33E|RP11-283I3.4_ENST00000540868.1_RNA|SLC6A13_ENST00000436453.1_Missense_Mutation_p.G33E	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	33				Missing (in Ref. 1; AAF64247). {ECO:0000305}.	neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GTTCCAGTGCCCCCGCTCCAG	0.517																																																	0													266.0	237.0	247.0					12																	369121		2203	4300	6503	SO:0001583	missense	0			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.98G>A	12.37:g.369121C>T	ENSP00000339260:p.Gly33Glu		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.G33E	ENST00000343164.4	37	c.98	CCDS8502.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.93|13.93	2.383588|2.383588	0.42207|0.42207	.|.	.|.	ENSG00000010379|ENSG00000010379	ENST00000445055;ENST00000343164;ENST00000546319;ENST00000436453|ENST00000313154	T;T;T;T|.	0.73897|.	-0.79;-0.79;-0.79;-0.79|.	5.94|5.94	1.02|1.02	0.19986|0.19986	.|.	0.157331|0.157331	0.56097|0.56097	N|D	0.000023|0.000023	T|T	0.27098|0.27098	0.0664|0.0664	N|N	0.11724|0.11724	0.165|0.165	0.28705|0.28705	N|N	0.903864|0.903864	B;P;B|.	0.41420|.	0.035;0.749;0.01|.	B;P;B|.	0.48654|.	0.04;0.585;0.029|.	T|T	0.23762|0.23762	-1.0179|-1.0179	10|7	0.02654|0.72032	T|D	1|0.01	.|.	9.6359|9.6359	0.39806|0.39806	0.0:0.6568:0.0:0.3432|0.0:0.6568:0.0:0.3432	.|.	33;33;33|.	B4DJL1;Q8WW56;Q9NSD5|.	.;.;S6A13_HUMAN|.	E|S	33|23	ENSP00000407104:G33E;ENSP00000339260:G33E;ENSP00000444606:G33E;ENSP00000389316:G33E|.	ENSP00000339260:G33E|ENSP00000318097:G23S	G|G	-|-	2|1	0|0	SLC6A13|SLC6A13	239382|239382	0.951000|0.951000	0.32395|0.32395	0.319000|0.319000	0.25293|0.25293	0.949000|0.949000	0.60115|0.60115	2.159000|2.159000	0.42339|0.42339	0.120000|0.120000	0.18254|0.18254	0.563000|0.563000	0.77884|0.77884	GGG|GGC	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000010379		0.517	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	-	0.00	61	0	C	NM_016615		369121	-1	tier1	-	no_errors	ENST00000343164	ensembl	human	known	74_37	missense	42.64	74	55	SNP	0.913	T
SLC9C2	284525	genome.wustl.edu	37	1	173526482	173526482	+	Silent	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:173526482T>C	ENST00000367714.3	-	10	1634	c.1212A>G	c.(1210-1212)caA>caG	p.Q404Q	SLC9C2_ENST00000536496.1_Silent_p.Q302Q|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	404					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TTCCTACCATTTGTGGTACTT	0.368																																																	0													94.0	103.0	100.0					1																	173526482		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1212A>G	1.37:g.173526482T>C			Q86UF3	Silent	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.Q404	ENST00000367714.3	37	c.1212	CCDS1308.1	1																																																																																			SLC9C2	-	pfam_Cation/H_exchanger	ENSG00000162753		0.368	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	-	0.00	24	0	T	NM_178527		173526482	-1	tier1	-	no_errors	ENST00000367714	ensembl	human	known	74_37	silent	57.89	16	22	SNP	0.052	C
SLC9C2	284525	genome.wustl.edu	37	1	173567087	173567087	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:173567087C>A	ENST00000367714.3	-	4	735	c.313G>T	c.(313-315)Gct>Tct	p.A105S	SLC9C2_ENST00000536496.1_Missense_Mutation_p.A3S|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	105					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ACATCCAAAGCAACCATAAAT	0.318																																																	0													88.0	93.0	91.0					1																	173567087		2203	4297	6500	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.313G>T	1.37:g.173567087C>A	ENSP00000356687:p.Ala105Ser		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.A105S	ENST00000367714.3	37	c.313	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263788	0.39995	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.15487	2.42;2.42	5.51	4.58	0.56647	Cation/H+ exchanger (1);	0.000000	0.53938	D	0.000050	T	0.12689	0.0308	L	0.51422	1.61	0.25789	N	0.984639	P	0.51240	0.943	P	0.52909	0.713	T	0.06862	-1.0803	10	0.30854	T	0.27	-25.2812	11.5011	0.50437	0.1796:0.8204:0.0:0.0	.	105	Q5TAH2	S9A11_HUMAN	S	105;3	ENSP00000356687:A105S;ENSP00000445437:A3S	ENSP00000356687:A105S	A	-	1	0	SLC9A11	171833710	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.980000	0.29513	1.306000	0.44926	0.543000	0.68304	GCT	SLC9C2	-	pfam_Cation/H_exchanger	ENSG00000162753		0.318	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1		0.00	19	0	C	NM_178527		173567087	-1			no_errors	ENST00000367714	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A
SLCO3A1	28232	genome.wustl.edu	37	15	92459375	92459375	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:92459375C>T	ENST00000318445.6	+	2	547	c.333C>T	c.(331-333)tgC>tgT	p.C111C	SLCO3A1_ENST00000424469.2_Silent_p.C111C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	111					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)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TGATCGGCTGCGGCGGCATCG	0.692																																																	0													18.0	16.0	16.0					15																	92459375		2118	4124	6242	SO:0001819	synonymous_variant	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.333C>T	15.37:g.92459375C>T			A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.C111	ENST00000318445.6	37	c.333	CCDS10371.1	15																																																																																			SLCO3A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000176463		0.692	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	-	0.00	17	0	C	NM_013272		92459375	+1	tier1	-	no_errors	ENST00000318445	ensembl	human	known	74_37	silent	29.63	19	8	SNP	0.997	T
SLCO6A1	133482	genome.wustl.edu	37	5	101834246	101834246	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:101834246A>T	ENST00000506729.1	-	1	474	c.303T>A	c.(301-303)tgT>tgA	p.C101*	SLCO6A1_ENST00000514551.1_5'UTR|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000513675.1_Nonsense_Mutation_p.C101*|SLCO6A1_ENST00000389019.3_Nonsense_Mutation_p.C101*|SLCO6A1_ENST00000379807.3_Nonsense_Mutation_p.C101*|SLCO6A1_ENST00000379810.1_Nonsense_Mutation_p.C101*			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	101	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGTTATTGCAACACTCACAGC	0.522																																																	0													96.0	96.0	96.0					5																	101834246		2203	4300	6503	SO:0001587	stop_gained	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.303T>A	5.37:g.101834246A>T	ENSP00000421339:p.Cys101*		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Nonsense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.C101*	ENST00000506729.1	37	c.303	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661351	0.88154	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	.	.	.	3.52	1.1	0.20463	.	0.328214	0.25222	N	0.032240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	3.7389	0.08521	0.6573:0.2236:0.1191:0.0	.	.	.	.	X	101	.	ENSP00000369135:C101X	C	-	3	2	SLCO6A1	101862145	0.523000	0.26274	0.703000	0.30354	0.001000	0.01503	0.061000	0.14366	0.230000	0.21059	-1.460000	0.01027	TGT	SLCO6A1	-	tigrfam_OA_transporter	ENSG00000205359		0.522	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	-	0.00	27	0	A	NM_173488		101834246	-1	tier1	-	no_errors	ENST00000379807	ensembl	human	known	74_37	nonsense	67.65	11	23	SNP	0.779	T
SLFN14	342618	genome.wustl.edu	37	17	33879871	33879871	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:33879871delA	ENST00000415846.3	-	3	1817	c.1782delT	c.(1780-1782)tttfs	p.F594fs	RP11-1094M14.12_ENST00000588445.1_RNA	NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	594							ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						TGACTCCTGGAAAGCAGTAGA	0.423																																																	0													90.0	78.0	82.0					17																	33879871		692	1591	2283	SO:0001589	frameshift_variant	0				CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.1782delT	17.37:g.33879871delA	ENSP00000391101:p.Phe594fs		B2RTW9	Frame_Shift_Del	DEL	pfam_ATPase_AAA-4,superfamily_P-loop_NTPase	p.P595fs	ENST00000415846.3	37	c.1782	CCDS45650.1	17																																																																																			SLFN14	-	superfamily_P-loop_NTPase	ENSG00000236320		0.423	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN14	HGNC	protein_coding	OTTHUMT00000448928.1		0.00	22	0	A	NM_001129820		33879871	-1	tier1		no_errors	ENST00000415846	ensembl	human	known	74_37	frame_shift_del	22.22	21	6	DEL	1.000	-
SLITRK4	139065	genome.wustl.edu	37	X	142717789	142717789	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:142717789G>A	ENST00000381779.4	-	2	1361	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	SLITRK4_ENST00000356928.1_Missense_Mutation_p.A379V|SLITRK4_ENST00000338017.4_Missense_Mutation_p.A379V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	379						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTTCTTCGCATTTAAAGG	0.418																																																	0													212.0	171.0	185.0					X																	142717789		2203	4300	6503	SO:0001583	missense	0			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1136C>T	X.37:g.142717789G>A	ENSP00000371198:p.Ala379Val		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A379V	ENST00000381779.4	37	c.1136	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692867	0.68271	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.49720	0.77;0.77;0.77	5.38	5.38	0.77491	Leucine-rich repeat-containing N-terminal (1);	0.057127	0.64402	D	0.000002	T	0.34077	0.0885	L	0.27975	0.815	0.80722	D	1	P	0.42941	0.794	B	0.40741	0.339	T	0.19679	-1.0298	10	0.02654	T	1	-8.2212	16.8528	0.85998	0.0:0.0:1.0:0.0	.	379	Q8IW52	SLIK4_HUMAN	V	379	ENSP00000371198:A379V;ENSP00000349400:A379V;ENSP00000336627:A379V	ENSP00000336627:A379V	A	-	2	0	SLITRK4	142545455	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.384000	0.81235	0.594000	0.82650	GCG	SLITRK4	-	NULL	ENSG00000179542		0.418	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	-	0.00	31	0	G	NM_173078		142717789	-1	tier1	-	no_errors	ENST00000338017	ensembl	human	known	74_37	missense	80.65	6	25	SNP	1.000	A
SMARCAL1	50485	genome.wustl.edu	37	2	217300166	217300168	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:217300166_217300168delCTT	ENST00000357276.4	+	9	1921_1923	c.1591_1593delCTT	c.(1591-1593)cttdel	p.L532del	SMARCAL1_ENST00000358207.5_In_Frame_Del_p.L532del	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	532	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CAGCTTTGACCTTCTTAGCAAGT	0.448									Schimke Immuno-Osseous Dysplasia																																								0																																										SO:0001651	inframe_deletion	0	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1591_1593delCTT	2.37:g.217300169_217300171delCTT	ENSP00000349823:p.Leu532del		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	In_Frame_Del	DEL	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L532in_frame_del	ENST00000357276.4	37	c.1591_1593	CCDS2403.1	2																																																																																			SMARCAL1	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000138375		0.448	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2		0.00	47	0	CTT			217300168	+1	tier1		no_errors	ENST00000357276	ensembl	human	known	74_37	in_frame_del	36.36	42	24	DEL	1.000:1.000:0.972	-
SMARCD2	6603	genome.wustl.edu	37	17	61911556	61911556	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:61911556A>G	ENST00000448276.2	-	8	1319	c.1054T>C	c.(1054-1056)Tac>Cac	p.Y352H	SMARCD2_ENST00000225742.9_Missense_Mutation_p.Y277H|SMARCD2_ENST00000323347.10_Missense_Mutation_p.Y304H	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	352	SWIB.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CAGTTGATGTACTCCCGCTCG	0.602											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													37.0	37.0	37.0					17																	61911556		2101	4220	6321	SO:0001583	missense	0			U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1054T>C	17.37:g.61911556A>G	ENSP00000392617:p.Tyr352His	1057	A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.Y352H	ENST00000448276.2	37	c.1054	CCDS45756.1	17	.	.	.	.	.	.	.	.	.	.	.	6.982	0.551220	0.13374	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.45668	0.89;0.91	5.44	5.44	0.79542	SWIB/MDM2 domain (2);	0.109676	0.64402	D	0.000004	T	0.35158	0.0922	L	0.42245	1.32	0.58432	D	0.999997	B;B;B	0.14805	0.004;0.011;0.011	B;B;B	0.23852	0.003;0.037;0.049	T	0.25710	-1.0124	10	0.59425	D	0.04	-11.8023	7.9667	0.30102	0.9115:0.0:0.0885:0.0	.	304;315;352	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	H	352;294;315;304	ENSP00000392617:Y352H;ENSP00000318451:Y304H	ENSP00000225742:Y294H	Y	-	1	0	SMARCD2	59265288	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	7.383000	0.79741	2.288000	0.76882	0.533000	0.62120	TAC	SMARCD2	-	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	ENSG00000108604		0.602	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD2	HGNC	protein_coding	OTTHUMT00000444544.1	-	0.00	12	0	A	NM_001098426		61911556	-1	tier1	-	no_errors	ENST00000448276	ensembl	human	known	74_37	missense	38.10	12	8	SNP	1.000	G
NPIPB5	100132247	genome.wustl.edu	37	16	22503208	22503208	+	Intron	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:22503208delA	ENST00000415654.1	+	15	2061				SMG1P1_ENST00000431681.1_RNA	NR_002555.2		A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5							integral component of membrane (GO:0016021)											TTTTttttttaaattttgctt	0.299																																																	0																																										SO:0001627	intron_variant	0				CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000415654.1:c.2061+61A>-	16.37:g.22503208delA			B4DK13	RNA	DEL	-	NULL	ENST00000415654.1	37	NULL		16																																																																																			SMG1P1	-	-	ENSG00000237296		0.299	NPIPB5-016	KNOWN	mRNA_end_NF|basic	processed_transcript	SMG1P1	HGNC	protein_coding	OTTHUMT00000402477.1		0.00	55	0	A	NM_001135865		22503208	+1	tier1		no_errors	ENST00000431681	ensembl	human	known	74_37	rna	22.97	57	17	DEL	0.087	-
SMPD2	6610	genome.wustl.edu	37	6	109764847	109764847	+	Silent	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:109764847C>G	ENST00000258052.3	+	10	1370	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	337					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GGCTGCTTCTCCTGGCACTGC	0.652																																																	0													50.0	53.0	52.0					6																	109764847		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.1011C>G	6.37:g.109764847C>G			Q5TED1|Q9BWR3	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.L337	ENST00000258052.3	37	c.1011	CCDS5075.1	6																																																																																			SMPD2	-	NULL	ENSG00000135587		0.652	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD2	HGNC	protein_coding	OTTHUMT00000041755.1	-	0.00	45	0	C			109764847	+1	tier1	-	no_errors	ENST00000258052	ensembl	human	known	74_37	silent	45.45	29	25	SNP	0.238	G
CD68	968	genome.wustl.edu	37	17	7482902	7482903	+	5'UTR	DEL	TT	TT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:7482902_7482903delTT	ENST00000250092.6	+	0	118_119				AC113189.5_ENST00000573187.1_RNA|CD68_ENST00000380498.6_5'UTR|SENP3-EIF4A1_ENST00000579777.1_RNA|AC113189.5_ENST00000572046.1_RNA|AC113189.5_ENST00000417897.1_RNA|SNORA67_ENST00000384423.1_RNA|AC113189.5_ENST00000415124.1_RNA|SNORD10_ENST00000459579.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule						cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						GAAGTGAGACTTTCATTTCCTC	0.52																																																	0																																										SO:0001623	5_prime_UTR_variant	0			S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.-93TT>-	17.37:g.7482902_7482903delTT			B4DVT4|Q53HR6|Q53XI3|Q96BI7	RNA	DEL	-	NULL	ENST00000250092.6	37	NULL	CCDS11114.1	17																																																																																			SNORA67	-	-	ENSG00000264772		0.520	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA67	HGNC	protein_coding	OTTHUMT00000226949.3		0.00	44	0	TT	NM_001251		7482903	+1	tier1		no_errors	ENST00000581621	ensembl	human	known	74_37	rna	37.14	44	26	DEL	0.931:0.983	-
SNHG14	104472715	genome.wustl.edu	37	15	25449560	25449560	+	RNA	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:25449560T>C	ENST00000424208.1	+	0	2339				SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-20_ENST00000365099.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTAAAAATCATTCTCAAAAGG	0.507																																																	0													217.0	243.0	235.0					15																	25449560		876	1989	2865			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25449560T>C				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNORD115-19	-	-	ENSG00000199968		0.507	SNHG14-002	KNOWN	basic	antisense	SNORD115-19	HGNC	processed_transcript	OTTHUMT00000126729.2		0.00	56	0	T			25449560	+1			no_errors	ENST00000363098	ensembl	human	known	74_37	rna	5.41	70	4	SNP	0.871	C
SNHG14	104472715	genome.wustl.edu	37	15	25492540	25492540	+	RNA	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:25492540delA	ENST00000453082.2	+	0	5792				SNORD115-43_ENST00000365503.1_RNA|SNORD115-42_ENST00000364273.1_RNA|SNORD115-41_ENST00000363608.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTGATGACTTAAAAATCATGC	0.493																																																	0													408.0	403.0	404.0					15																	25492540		876	1989	2865			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25492540delA				RNA	DEL	-	NULL	ENST00000453082.2	37	NULL		15																																																																																			SNORD115-42	-	-	ENSG00000201143		0.493	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	SNORD115-42	HGNC	processed_transcript	OTTHUMT00000126730.2		0.00	58	0	A			25492540	+1	tier1		no_errors	ENST00000364273	ensembl	human	known	74_37	rna	58.43	37	52	DEL	0.981	-
SNRNP25	79622	genome.wustl.edu	37	16	106355	106356	+	Intron	DEL	CT	CT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:106355_106356delCT	ENST00000383018.3	+	4	427				POLR3K_ENST00000293860.5_5'Flank	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				large_intestine(1)|lung(2)	3						CCAGACAGCCCTCTGAGAACAG	0.545																																																	0																																										SO:0001627	intron_variant	0			BC001381	CCDS10396.1	16p13.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000161981	ENSG00000161981			14161	protein-coding gene	gene with protein product	"""U11/U12 snRNP 25K"""		"""chromosome 16 open reading frame 33"""	C16orf33		15146077	Standard	NM_024571		Approved		uc002cfj.4	Q9BV90	OTTHUMG00000060720	ENST00000383018.3:c.267-183CT>-	16.37:g.106357_106358delCT			Q1W6H3|Q6IEF8|Q9H5W4	Frame_Shift_Del	DEL	NULL	p.*93fs	ENST00000383018.3	37	c.274_275	CCDS10396.1	16																																																																																			SNRNP25	-	NULL	ENSG00000161981		0.545	SNRNP25-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNRNP25	HGNC	protein_coding			0.00	28	0	CT	NM_024571		106356	+1	tier1		no_errors	ENST00000397876	ensembl	human	known	74_37	frame_shift_del	13.64	38	6	DEL	0.357:0.368	-
SNRNP40	9410	genome.wustl.edu	37	1	31732678	31732679	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:31732678_31732679delAA	ENST00000263694.4	-	0	1332_1333				SNRNP40_ENST00000373720.3_3'UTR|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						aaagaaaaagaaaaaaaaaaaC	0.371																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.*241TT>-	1.37:g.31732686_31732687delAA			B4DQJ1|O75938|O95320	RNA	DEL	-	NULL	ENST00000263694.4	37	NULL	CCDS340.1	1																																																																																			SNRNP40	-	-	ENSG00000060688		0.371	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	HGNC	protein_coding	OTTHUMT00000010657.1		0.00	22	0	AA	NM_004814		31732679	-1	tier1		no_errors	ENST00000486941	ensembl	human	known	74_37	rna	50.00	8	8	DEL	0.040:0.034	-
SNX19	399979	genome.wustl.edu	37	11	130775936	130775936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:130775936delT	ENST00000265909.4	-	7	2924	c.2355delA	c.(2353-2355)aaafs	p.K785fs	SNX19_ENST00000528555.1_Frame_Shift_Del_p.K165fs|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000530356.1_Frame_Shift_Del_p.K165fs|SNX19_ENST00000534726.1_Frame_Shift_Del_p.K25fs|SNX19_ENST00000545537.1_Frame_Shift_Del_p.K25fs|SNX19_ENST00000533214.1_Frame_Shift_Del_p.K768fs|SNX19_ENST00000539184.1_Frame_Shift_Del_p.K228fs	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	785					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GTTCAGGATCTTTTTCTGGGG	0.493																																																	0													144.0	127.0	132.0					11																	130775936		2201	4297	6498	SO:0001589	frameshift_variant	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2355delA	11.37:g.130775936delT	ENSP00000265909:p.Lys785fs		E9PKB9|Q8IV55	Frame_Shift_Del	DEL	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.D786fs	ENST00000265909.4	37	c.2355	CCDS31721.1	11																																																																																			SNX19	-	NULL	ENSG00000120451		0.493	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1		0.00	44	0	T	NM_014758		130775936	-1			no_errors	ENST00000265909	ensembl	human	known	74_37	frame_shift_del	15.22	39	7	DEL	0.005	0
SNX20	124460	genome.wustl.edu	37	16	50707525	50707525	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:50707525G>A	ENST00000330943.4	-	4	914	c.743C>T	c.(742-744)gCg>gTg	p.A248V	RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	248					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTCTCCGGCCGCGAAGGCCTC	0.756																																																	0													7.0	8.0	8.0					16																	50707525		1994	3929	5923	SO:0001583	missense	0			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.743C>T	16.37:g.50707525G>A	ENSP00000332062:p.Ala248Val		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.A248V	ENST00000330943.4	37	c.743	CCDS10745.1	16	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663764	0.47572	.	.	ENSG00000167208	ENST00000330943	T	0.65732	-0.17	5.78	4.74	0.60224	.	0.310539	0.34067	N	0.004299	T	0.55847	0.1946	M	0.64997	1.995	0.35085	D	0.763779	D	0.56035	0.974	B	0.38194	0.267	T	0.71020	-0.4713	10	0.45353	T	0.12	-27.2913	13.2905	0.60269	0.0:0.0:0.7804:0.2196	.	248	Q7Z614	SNX20_HUMAN	V	248	ENSP00000332062:A248V	ENSP00000332062:A248V	A	-	2	0	SNX20	49265026	0.996000	0.38824	0.618000	0.29105	0.008000	0.06430	2.485000	0.45250	2.733000	0.93635	0.561000	0.74099	GCG	SNX20	-	NULL	ENSG00000167208		0.756	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	HGNC	protein_coding	OTTHUMT00000256879.2	-	0.00	18	0	G	NM_153337		50707525	-1	tier1	-	no_errors	ENST00000330943	ensembl	human	known	74_37	missense	46.94	26	23	SNP	0.493	A
ACOT8	10005	genome.wustl.edu	37	20	44470649	44470651	+	Intron	DEL	TTT	TTT	-	rs370136124		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:44470649_44470651delTTT	ENST00000217455.4	-	6	932				SNX21_ENST00000342644.5_Intron|SNX21_ENST00000344780.4_3'UTR	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8						acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CCAAATACACttttttttttttt	0.567																																																	0																																										SO:0001627	intron_variant	0			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.842-54AAA>-	20.37:g.44470658_44470660delTTT			O15261|Q17RX4	RNA	DEL	-	NULL	ENST00000217455.4	37	NULL	CCDS13378.1	20																																																																																			SNX21	-	-	ENSG00000124104		0.567	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX21	HGNC	protein_coding	OTTHUMT00000080338.2		0.00	39	0	TTT	NM_183386		44470651	+1	tier1		no_errors	ENST00000344780	ensembl	human	known	74_37	rna	13.70	63	10	DEL	0.017:0.013:0.007	-
SNX25	83891	genome.wustl.edu	37	4	186244914	186244914	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:186244914delA	ENST00000504273.1	+	9	1511	c.1217delA	c.(1216-1218)gaafs	p.E406fs	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Frame_Shift_Del_p.E406fs			Q9H3E2	SNX25_HUMAN	sorting nexin 25	406					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AAAGAGGAAGAAAAACATGCC	0.338																																																	0													56.0	53.0	54.0					4																	186244914		2203	4298	6501	SO:0001589	frameshift_variant	0			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1217delA	4.37:g.186244914delA	ENSP00000426255:p.Glu406fs		Q3ZT30|Q8N6K3	Frame_Shift_Del	DEL	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.K407fs	ENST00000504273.1	37	c.1217	CCDS34116.1	4																																																																																			SNX25	-	NULL	ENSG00000109762		0.338	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1		0.00	54	0	A	NM_031953		186244914	+1	tier1		no_errors	ENST00000264694	ensembl	human	known	74_37	frame_shift_del	25.53	35	12	DEL	0.952	-
SOCS5	9655	genome.wustl.edu	37	2	46986468	46986468	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:46986468A>G	ENST00000306503.5	+	2	971	c.799A>G	c.(799-801)Aga>Gga	p.R267G	SOCS5_ENST00000394861.2_Missense_Mutation_p.R267G	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	267					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCTTAGAGAGAGAAGGCGGCT	0.403																																																	0													52.0	52.0	52.0					2																	46986468		2203	4300	6503	SO:0001583	missense	0			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.799A>G	2.37:g.46986468A>G	ENSP00000305133:p.Arg267Gly		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.R267G	ENST00000306503.5	37	c.799	CCDS1830.1	2	.	.	.	.	.	.	.	.	.	.	A	16.51	3.143234	0.57044	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.36157	1.27;1.27	5.43	5.43	0.79202	.	0.049979	0.85682	D	0.000000	T	0.56702	0.2003	M	0.63843	1.955	0.58432	D	0.999998	D	0.89917	1.0	D	0.69307	0.963	T	0.59311	-0.7478	10	0.66056	D	0.02	-25.7792	15.3001	0.73940	1.0:0.0:0.0:0.0	.	267	O75159	SOCS5_HUMAN	G	267	ENSP00000305133:R267G;ENSP00000378330:R267G	ENSP00000305133:R267G	R	+	1	2	SOCS5	46839972	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.533000	0.53561	2.279000	0.76181	0.533000	0.62120	AGA	SOCS5	-	NULL	ENSG00000171150		0.403	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS5	HGNC	protein_coding	OTTHUMT00000250791.2	-	0.00	49	0	A			46986468	+1	tier1	-	no_errors	ENST00000306503	ensembl	human	known	74_37	missense	50.85	29	30	SNP	1.000	G
SORBS1	10580	genome.wustl.edu	37	10	97096993	97096993	+	Missense_Mutation	SNP	C	C	T	rs376968108		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:97096993C>T	ENST00000361941.3	-	28	2950	c.2924G>A	c.(2923-2925)cGa>cAa	p.R975Q	SORBS1_ENST00000371247.2_Missense_Mutation_p.R975Q|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.R929Q|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371241.1_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGACAGGGCTCGGCGGGAGTG	0.567																																																	0								C	GLN/ARG,,,,,,	0,4390		0,0,2195	15.0	18.0	17.0		2924,,,,,,	3.5	1.0	10		17	2,8588		0,2,4293	no	missense,intron,intron,intron,intron,intron,intron	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	43,,,,,,	0,2,6488	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,,,,,,	975/1293,,,,,,	97096993	2,12978	2195	4295	6490	SO:0001583	missense	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.2924G>A	10.37:g.97096993C>T	ENSP00000355136:p.Arg975Gln			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.R975Q	ENST00000361941.3	37	c.2924	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812104	0.32053	0.0	2.33E-4	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.08546	3.14;3.08;3.14	5.58	3.47	0.39725	.	0.000000	0.34156	N	0.004220	T	0.02083	0.0065	N	0.00621	-1.32	0.80722	D	1	B;B	0.22346	0.068;0.041	B;B	0.14023	0.01;0.004	T	0.45308	-0.9270	10	0.12766	T	0.61	-2.9134	8.0912	0.30801	0.0:0.6816:0.1352:0.1832	.	929;975	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	Q	975;929;975	ENSP00000360293:R975Q;ENSP00000360271:R929Q;ENSP00000355136:R975Q	ENSP00000355136:R975Q	R	-	2	0	SORBS1	97086983	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.203000	0.32284	1.355000	0.45865	0.561000	0.74099	CGA	SORBS1	-	NULL	ENSG00000095637		0.567	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	-	0.00	29	0	C			97096993	-1	tier1	-	no_errors	ENST00000361941	ensembl	human	known	74_37	missense	26.83	30	11	SNP	0.996	T
SORBS2	8470	genome.wustl.edu	37	4	186541266	186541266	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:186541266T>C	ENST00000284776.7	-	14	3052	c.2543A>G	c.(2542-2544)gAc>gGc	p.D848G	SORBS2_ENST00000437304.2_Missense_Mutation_p.D572G|SORBS2_ENST00000449407.2_Missense_Mutation_p.D392G|SORBS2_ENST00000448662.2_Missense_Mutation_p.D409G|SORBS2_ENST00000393528.3_Missense_Mutation_p.D414G|SORBS2_ENST00000319471.9_Missense_Mutation_p.D479G|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Missense_Mutation_p.D752G|SORBS2_ENST00000355634.5_Missense_Mutation_p.D948G|SORBS2_ENST00000431808.1_Missense_Mutation_p.D848G	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	848					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCTCCCCATGTCAGTCAAAGT	0.438																																					Esophageal Squamous(153;41 2433 9491 36028)												0													241.0	240.0	240.0					4																	186541266		2203	4300	6503	SO:0001583	missense	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2543A>G	4.37:g.186541266T>C	ENSP00000284776:p.Asp848Gly		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.D848G	ENST00000284776.7	37	c.2543	CCDS3845.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.76|16.76	3.211020|3.211020	0.58343|0.58343	.|.	.|.	ENSG00000154556|ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974|ENST00000438278	T;T;T;T;T;T;T;T;T;T;T|.	0.36157|.	1.37;1.6;1.37;1.27;1.39;1.4;1.58;1.36;1.69;1.56;2.65|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.097141|.	0.64402|.	D|.	0.000002|.	T|.	0.70343|.	0.3213|.	L|L	0.58101|0.58101	1.795|1.795	0.58432|0.58432	D|D	0.999991|0.999991	D;D;D;D;D;D;D;D;P;P;B;D;D;D|.	0.76494|.	0.991;0.99;0.994;0.962;0.99;0.999;0.999;0.994;0.874;0.952;0.063;0.99;0.997;0.991|.	P;P;P;P;P;D;D;P;B;P;B;D;P;P|.	0.81914|.	0.73;0.869;0.577;0.633;0.718;0.96;0.995;0.577;0.374;0.612;0.032;0.92;0.888;0.73|.	T|.	0.68454|.	-0.5404|.	10|.	0.66056|.	D|.	0.02|.	-30.3104|-30.3104	15.0521|15.0521	0.71881|0.71881	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	414;409;752;240;297;439;948;848;392;572;409;439;393;414|.	G3XAI0;C9JKV9;B7Z3X6;B7Z997;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2|.	.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.|.	G|W	848;409;848;752;572;479;392;948;414;439;197|264	ENSP00000284776:D848G;ENSP00000409158:D409G;ENSP00000411764:D848G;ENSP00000397482:D752G;ENSP00000396008:D572G;ENSP00000322182:D479G;ENSP00000397262:D392G;ENSP00000347852:D948G;ENSP00000377162:D414G;ENSP00000321983:D439G;ENSP00000401818:D197G|.	ENSP00000284776:D848G|.	D|X	-|-	2|3	0|0	SORBS2|SORBS2	186778260|186778260	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.099000|0.099000	0.18886|0.18886	4.169000|4.169000	0.58223|0.58223	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAC|TGA	SORBS2	-	NULL	ENSG00000154556		0.438	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	-	0.00	64	0	T	NM_003603		186541266	-1	tier1	-	no_errors	ENST00000284776	ensembl	human	known	74_37	missense	17.57	61	13	SNP	0.992	C
SORCS1	114815	genome.wustl.edu	37	10	108923947	108923947	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:108923947G>A	ENST00000263054.6	-	1	345	c.338C>T	c.(337-339)gCg>gTg	p.A113V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A113V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	113					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCCTGATCCGCTCCGCTCCG	0.721																																																	0													30.0	29.0	29.0					10																	108923947		2203	4300	6503	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.338C>T	10.37:g.108923947G>A	ENSP00000263054:p.Ala113Val		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.A113V	ENST00000263054.6	37	c.338	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	G	4.169	0.029855	0.08101	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.12672	2.66;2.67	4.45	-5.19	0.02832	.	2.152390	0.02225	N	0.064323	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.26258	-1.0108	9	.	.	.	-0.0492	1.6294	0.02729	0.1644:0.2115:0.1577:0.4664	.	113;113;113;113;113	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	113	ENSP00000263054:A113V;ENSP00000345964:A113V	.	A	-	2	0	SORCS1	108913937	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.586000	0.05787	-0.876000	0.04017	-1.088000	0.02184	GCG	SORCS1	-	NULL	ENSG00000108018		0.721	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	-	0.00	19	0	G	NM_052918		108923947	-1	tier1	-	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.000	A
SOS2	6655	genome.wustl.edu	37	14	50623685	50623685	+	Intron	SNP	A	A	G	rs553167605	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:50623685A>G	ENST00000216373.5	-	12	2332				SOS2_ENST00000543680.1_Intron|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					atatgtgtatatatatatata	0.313													A|||	524	0.104633	0.2716	0.0778	5008	,	,		11444	0.0		0.0934	False		,,,				2504	0.0174																0													11.0	10.0	11.0					14																	50623685		1796	3374	5170	SO:0001627	intron_variant	0			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2057+31T>C	14.37:g.50623685A>G			B7ZKT6|D3DSB4|Q15503|Q17RN1	RNA	SNP	-	NULL	ENST00000216373.5	37	NULL	CCDS9697.1	14																																																																																			SOS2	-	-	ENSG00000100485		0.313	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	-	0.00	24	0	A			50623685	-1	tier1	-	no_errors	ENST00000555794	ensembl	human	known	74_37	rna	47.62	22	20	SNP	0.002	G
SOWAHA	134548	genome.wustl.edu	37	5	132150631	132150631	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:132150631G>A	ENST00000378693.2	+	1	1599	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	440																	CCTTCTTGGCGATCCAGGCCT	0.701																																																	0													12.0	12.0	12.0					5																	132150631		2174	4270	6444	SO:0001583	missense	0			AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1318G>A	5.37:g.132150631G>A	ENSP00000367965:p.Asp440Asn		Q8NAE7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D440N	ENST00000378693.2	37	c.1318	CCDS43361.1	5	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781907	0.49891	.	.	ENSG00000198944	ENST00000378693	T	0.20738	2.05	5.52	4.66	0.58398	Ankyrin repeat-containing domain (1);	0.410012	0.21123	N	0.079786	T	0.26412	0.0645	M	0.66939	2.045	0.33264	D	0.560113	D	0.54047	0.964	P	0.44447	0.45	T	0.40421	-0.9564	10	0.18710	T	0.47	-33.0171	14.5134	0.67804	0.0709:0.0:0.9291:0.0	.	440	Q2M3V2	ANR43_HUMAN	N	440	ENSP00000367965:D440N	ENSP00000367965:D440N	D	+	1	0	ANKRD43	132178530	1.000000	0.71417	0.891000	0.34965	0.042000	0.13812	4.684000	0.61686	1.461000	0.47929	0.591000	0.81541	GAT	SOWAHA	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000198944		0.701	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOWAHA	HGNC	protein_coding	OTTHUMT00000133062.1	-	0.00	11	0	G	NM_175873		132150631	+1	tier1	-	no_errors	ENST00000378693	ensembl	human	known	74_37	missense	33.33	10	5	SNP	0.986	A
SOX2-OT	347689	genome.wustl.edu	37	3	181417763	181417763	+	RNA	DEL	T	T	-	rs10712814|rs367608879	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:181417763delT	ENST00000410534.1	+	0	158									SOX2 overlapping transcript																		tttttctttcttttttttttt	0.398											OREG0015935	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	|||unknown(HR)	1044	0.208466	0.503	0.1585	5008	,	,		17371	0.0565		0.1521	False		,,,				2504	0.0603																0																																												0			AL157425, AK022826		3q26.33	2014-06-02	2014-06-02	2011-08-19	ENSG00000242808	ENSG00000242808		"""Long non-coding RNAs"", ""-"", ""-"""	20209	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 43"""		"""SOX2 overlapping transcript (non-protein coding)"""	SOX2OT		12612584, 19767420	Standard	NR_004053		Approved	DKFZp761J1324, NCRNA00043	uc003fkv.4		OTTHUMG00000158186		3.37:g.181417763delT		1969		RNA	DEL	-	NULL	ENST00000410534.1	37	NULL		3																																																																																			SOX2-OT	-	-	ENSG00000242808		0.398	SOX2-OT-201	KNOWN	basic	miRNA	SOX2-OT	HGNC	sense_overlapping			0.00	11	0	T	NR_004053		181417763	+1	tier1		no_errors	ENST00000597347	ensembl	human	known	74_37	rna	30.56	25	11	DEL	0.000	-
SP2	6668	genome.wustl.edu	37	17	46000463	46000463	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:46000463delA	ENST00000376741.4	+	4	1332	c.1195delA	c.(1195-1197)aaafs	p.K400fs	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	400					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TGGGACCAGCAAAAAGCACTC	0.602																																																	0													89.0	78.0	82.0					17																	46000463		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1195delA	17.37:g.46000463delA	ENSP00000365931:p.Lys400fs		A6NK74	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K400fs	ENST00000376741.4	37	c.1195	CCDS11521.2	17																																																																																			SP2	-	NULL	ENSG00000167182		0.602	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP2	HGNC	protein_coding	OTTHUMT00000316777.1		0.00	27	0	A	NM_003110		46000463	+1	tier1		no_errors	ENST00000376741	ensembl	human	known	74_37	frame_shift_del	32.50	27	13	DEL	1.000	-
SPATA1	100505741	genome.wustl.edu	37	1	84991635	84991635	+	RNA	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:84991635T>C	ENST00000370638.2	+	0	688							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		ATGGTGTTAATGAGGCTGATG	0.368																																																	0													49.0	50.0	50.0					1																	84991635		2203	4300	6503			0			AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84991635T>C			A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	RNA	SNP	-	NULL	ENST00000370638.2	37	NULL		1																																																																																			SPATA1	-	-	ENSG00000122432		0.368	SPATA1-007	KNOWN	basic	processed_transcript	SPATA1	HGNC	pseudogene	OTTHUMT00000314701.1	-	0.00	38	0	T	NM_022354		84991635	+1	tier1	-	no_errors	ENST00000370638	ensembl	human	known	74_37	rna	18.18	54	12	SNP	0.000	C
SPATA13	221178	genome.wustl.edu	37	13	24798196	24798196	+	Intron	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:24798196G>A	ENST00000382095.4	+	2	185				RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.G377R|SPATA13_ENST00000382108.3_Missense_Mutation_p.G377R|SPATA13_ENST00000424834.2_Missense_Mutation_p.G377R	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CAGGCGGGGCGGGGCGGTCAT	0.667																																																	0													18.0	21.0	20.0					13																	24798196		692	1591	2283	SO:0001627	intron_variant	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-25419G>A	13.37:g.24798196G>A			A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.G377R	ENST00000382095.4	37	c.1129	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.30|12.30	1.896107|1.896107	0.33442|0.33442	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108|ENST00000424834	T|.	0.73152|.	-0.72|.	4.3|4.3	-0.173|-0.173	0.13322|0.13322	.|.	1.357460|.	0.06319|.	U|.	0.704060|.	T|T	0.20170|0.20170	0.0485|0.0485	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.26326|0.26326	-1.0106|-1.0106	8|5	0.28530|.	T|.	0.3|.	.|.	4.4656|4.4656	0.11687|0.11687	0.3902:0.1716:0.4381:0.0|0.3902:0.1716:0.4381:0.0	.|.	.|.	.|.	.|.	R|Q	377|414	ENSP00000371542:G377R|.	ENSP00000371542:G377R|.	G|R	+|+	1|2	0|0	SPATA13|SPATA13	23696196|23696196	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.168000|0.168000	0.16622|0.16622	0.298000|0.298000	0.22638|0.22638	-0.361000|-0.361000	0.07541|0.07541	GGG|CGG	SPATA13	-	NULL	ENSG00000182957		0.667	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	-	0.00	31	0	G	NM_153023		24798196	+1	tier1	-	no_errors	ENST00000382108	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.000	A
SPATA2L	124044	genome.wustl.edu	37	16	89764373	89764374	+	Frame_Shift_Ins	INS	-	-	G	rs368444058		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:89764373_89764374insG	ENST00000289805.5	-	3	711_712	c.643_644insC	c.(643-645)cgafs	p.R215fs	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	215										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGGGAGCCTCGGGGGGGCAGG	0.703																																																	0										12,3628		0,12,1808						1.0	0.1			12	11,7225		0,11,3607	no	frameshift	SPATA2L	NM_152339.3		0,23,5415	A1A1,A1R,RR		0.152,0.3297,0.2115				23,10853				SO:0001589	frameshift_variant	0			AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.644dupC	16.37:g.89764380_89764380dupG	ENSP00000289805:p.Arg215fs		D3DX85|Q8NHV3	Frame_Shift_Ins	INS	NULL	p.R215fs	ENST00000289805.5	37	c.644_643	CCDS10985.1	16																																																																																			SPATA2L	-	NULL	ENSG00000158792		0.703	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2L	HGNC	protein_coding	OTTHUMT00000269923.1		0.00	45	0	-	NM_152339		89764374	-1	tier1		no_errors	ENST00000289805	ensembl	human	known	74_37	frame_shift_ins	21.90	82	23	INS	0.007:0.010	G
AKNAD1	254268	genome.wustl.edu	37	1	109400924	109400925	+	5'Flank	DEL	TT	TT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:109400924_109400925delTT	ENST00000370001.3	-	0	0				AKNAD1_ENST00000369995.3_5'Flank|SPATA42_ENST00000369989.2_RNA|AKNAD1_ENST00000357393.4_Intron|SPATA42_ENST00000417241.1_RNA	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1							cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AACTTTTGTCTTTTTTTTTTTT	0.361																																																	0																																										SO:0001631	upstream_gene_variant	0			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231		1.37:g.109400934_109400935delTT	Exception_encountered		B9EK62|Q5T1N0|Q8N990|Q8NCN9	RNA	DEL	-	NULL	ENST00000370001.3	37	NULL	CCDS791.2	1																																																																																			SPATA42	-	-	ENSG00000203897		0.361	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA42	HGNC	protein_coding	OTTHUMT00000030923.2		0.00	20	0	TT	NM_152763		109400925	+1	tier1		no_errors	ENST00000417241	ensembl	human	known	74_37	rna	14.29	12	2	DEL	0.000:0.001	-
SPATA5	166378	genome.wustl.edu	37	4	123855285	123855285	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:123855285A>G	ENST00000274008.4	+	5	608	c.539A>G	c.(538-540)tAt>tGt	p.Y180C	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	180					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AACTTTCTGTATTGTACATTC	0.378																																																	0													69.0	71.0	71.0					4																	123855285		2203	4300	6503	SO:0001583	missense	0			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.539A>G	4.37:g.123855285A>G	ENSP00000274008:p.Tyr180Cys		C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.Y180C	ENST00000274008.4	37	c.539	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589494	0.46214	.	.	ENSG00000145375	ENST00000274008	D	0.94280	-3.39	5.62	4.4	0.53042	.	0.410133	0.26708	N	0.022905	D	0.92280	0.7551	L	0.44542	1.39	0.20975	N	0.999816	D;D	0.69078	0.968;0.997	P;P	0.57324	0.473;0.818	D	0.84965	0.0879	10	0.45353	T	0.12	-22.4104	5.3898	0.16237	0.534:0.3242:0.1418:0.0	.	180;180	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	C	180	ENSP00000274008:Y180C	ENSP00000274008:Y180C	Y	+	2	0	SPATA5	124074735	0.778000	0.28640	0.983000	0.44433	0.995000	0.86356	1.624000	0.37018	1.023000	0.39654	0.533000	0.62120	TAT	SPATA5	-	NULL	ENSG00000145375		0.378	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	HGNC	protein_coding	OTTHUMT00000256714.2	-	0.00	43	0	A	NM_145207		123855285	+1	tier1	-	no_errors	ENST00000274008	ensembl	human	known	74_37	missense	32.00	34	16	SNP	0.268	G
SPEG	10290	genome.wustl.edu	37	2	220333698	220333698	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:220333698A>T	ENST00000312358.7	+	12	3551	c.3419A>T	c.(3418-3420)aAc>aTc	p.N1140I	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1140	Ig-like 5.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGTGCTGTTAACACCCATGGC	0.642																																																	0													44.0	55.0	51.0					2																	220333698		2079	4201	6280	SO:0001583	missense	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3419A>T	2.37:g.220333698A>T	ENSP00000311684:p.Asn1140Ile		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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.N1140I	ENST00000312358.7	37	c.3419	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	A	10.74	1.435329	0.25813	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	D	0.81579	-1.51	4.77	3.6	0.41247	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000361	D	0.91277	0.7250	H	0.98664	4.295	0.80722	D	1	D	0.52996	0.957	P	0.55055	0.767	D	0.92409	0.5936	10	0.87932	D	0	.	10.8573	0.46806	0.8587:0.0:0.0:0.1413	.	1140	Q15772	SPEG_HUMAN	I	1140	ENSP00000311684:N1140I	ENSP00000265327:N1140I	N	+	2	0	SPEG	220041942	1.000000	0.71417	0.312000	0.25196	0.064000	0.16182	7.206000	0.77891	0.845000	0.35118	0.533000	0.62120	AAC	SPEG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000072195		0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	-	0.00	45	0	A	NM_005876		220333698	+1	tier1	-	no_errors	ENST00000312358	ensembl	human	novel	74_37	missense	38.82	52	33	SNP	0.976	T
SPHKAP	80309	genome.wustl.edu	37	2	228884465	228884465	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:228884465C>T	ENST00000392056.3	-	7	1151	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G369R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	369						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCATGGTCTCCTGGGTTTAGG	0.458																																																	0													153.0	134.0	140.0					2																	228884465		2203	4300	6503	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1105G>A	2.37:g.228884465C>T	ENSP00000375909:p.Gly369Arg		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.G369R	ENST00000392056.3	37	c.1105	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	0.966	-0.701715	0.03255	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11277	2.79;2.79	5.65	3.01	0.34805	.	0.325774	0.31909	N	0.006873	T	0.11324	0.0276	M	0.63428	1.95	0.09310	N	1	B;B	0.20887	0.049;0.029	B;B	0.21546	0.018;0.035	T	0.24870	-1.0148	10	0.20046	T	0.44	.	9.0865	0.36584	0.0:0.6891:0.0:0.3109	.	369;369	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	369	ENSP00000375909:G369R;ENSP00000339886:G369R	ENSP00000339886:G369R	G	-	1	0	SPHKAP	228592709	0.032000	0.19561	0.009000	0.14445	0.019000	0.09904	1.223000	0.32527	1.045000	0.40225	0.561000	0.74099	GGA	SPHKAP	-	NULL	ENSG00000153820		0.458	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0.00	62	0	C	NM_030623		228884465	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	33.96	70	36	SNP	0.001	T
SPTBN5	51332	genome.wustl.edu	37	15	42160632	42160632	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:42160632C>T	ENST00000320955.6	-	33	6248	c.6021G>A	c.(6019-6021)caG>caA	p.Q2007Q	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2007					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GAAGTGCCTGCTGCCCCAGCT	0.692																																																	0													15.0	19.0	18.0					15																	42160632		1984	4150	6134	SO:0001819	synonymous_variant	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6021G>A	15.37:g.42160632C>T				Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Q2007	ENST00000320955.6	37	c.6021		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.692	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0.00	46	0	C	NM_016642		42160632	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	silent	73.85	17	48	SNP	0.992	T
SQLE	6713	genome.wustl.edu	37	8	126017779	126017779	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:126017779G>T	ENST00000265896.5	+	3	1455	c.557G>T	c.(556-558)gGt>gTt	p.G186V	SQLE_ENST00000523430.1_Missense_Mutation_p.G91V	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	186					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	ACAGTGGAAGGTCTTGATGCC	0.398																																																	0													178.0	182.0	180.0					8																	126017779		1916	4131	6047	SO:0001583	missense	0			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.557G>T	8.37:g.126017779G>T	ENSP00000265896:p.Gly186Val		Q9UEK6	Missense_Mutation	SNP	pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like	p.G186V	ENST00000265896.5	37	c.557	CCDS47918.1	8	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822225	0.71028	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000521232	T;T;T	0.44482	0.92;0.92;0.92	5.63	2.9	0.33743	.	0.137464	0.64402	D	0.000003	T	0.66499	0.2795	M	0.92367	3.3	0.80722	D	1	D	0.69078	0.997	P	0.61477	0.889	T	0.71013	-0.4715	10	0.66056	D	0.02	-3.0497	10.865	0.46849	0.2031:0.0:0.7969:0.0	.	186	Q14534	ERG1_HUMAN	V	91;186;128	ENSP00000430331:G91V;ENSP00000265896:G186V;ENSP00000428239:G128V	ENSP00000265896:G186V	G	+	2	0	SQLE	126086960	1.000000	0.71417	0.974000	0.42286	0.964000	0.63967	4.022000	0.57203	0.333000	0.23563	0.561000	0.74099	GGT	SQLE	-	pfam_mOase_FAD-bd	ENSG00000104549		0.398	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQLE	HGNC	protein_coding	OTTHUMT00000381362.1	-	0.00	39	0	G	NM_003129		126017779	+1	tier1	-	no_errors	ENST00000265896	ensembl	human	known	74_37	missense	17.02	117	24	SNP	1.000	T
SRCIN1	80725	genome.wustl.edu	37	17	36699355	36699355	+	5'UTR	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:36699355G>A	ENST00000398579.4	-	0	3388				SRCIN1_ENST00000578925.1_Intron|SRCIN1_ENST00000264659.7_Intron			Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1						exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CACAGCCTCCGCGCCTGCTCA	0.607																																																	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000398579.4:c.-1837C>T	17.37:g.36699355G>A			Q75T46|Q8N4W8	RNA	SNP	-	NULL	ENST00000398579.4	37	NULL		17																																																																																			SRCIN1	-	-	ENSG00000017373		0.607	SRCIN1-004	KNOWN	NAGNAG_splice_site|basic	processed_transcript	SRCIN1	HGNC	protein_coding	OTTHUMT00000442338.1	-	0.00	13	0	G	NM_025248		36699355	-1	tier1	-	no_errors	ENST00000398579	ensembl	human	known	74_37	rna	42.00	28	21	SNP	0.000	A
SREK1IP1	285672	genome.wustl.edu	37	5	64023941	64023941	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:64023941T>C	ENST00000513458.4	-	4	438	c.271A>G	c.(271-273)Agg>Ggg	p.R91G		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	91	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						TACCttttccttttttttttc	0.264																																																	0													16.0	20.0	19.0					5																	64023941		2130	4171	6301	SO:0001583	missense	0			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.271A>G	5.37:g.64023941T>C	ENSP00000427401:p.Arg91Gly		Q32NC8	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.R91G	ENST00000513458.4	37	c.271	CCDS34171.1	5	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670092	0.47677	.	.	ENSG00000153006	ENST00000513458	.	.	.	4.04	4.04	0.47022	.	0.151610	0.64402	D	0.000014	T	0.59662	0.2210	M	0.71036	2.16	0.43777	D	0.996307	B	0.20887	0.049	B	0.22386	0.039	T	0.63346	-0.6658	9	0.72032	D	0.01	-13.8338	9.5674	0.39407	0.0:0.0:0.0:1.0	.	91	Q8N9Q2	SR1IP_HUMAN	G	91	.	ENSP00000427401:R91G	R	-	1	2	SREK1IP1	64059697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.024000	0.49674	1.822000	0.53115	0.460000	0.39030	AGG	SREK1IP1	-	NULL	ENSG00000153006		0.264	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREK1IP1	HGNC	protein_coding	OTTHUMT00000368457.4		0.00	36	0	T	NM_173829		64023941	-1			no_errors	ENST00000513458	ensembl	human	known	74_37	missense	8.33	21	4	SNP	1.000	C
SRL	6345	genome.wustl.edu	37	16	4257572	4257572	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:4257572C>T	ENST00000399609.3	-	2	74				SRL_ENST00000537996.1_Intron	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin							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						GTCCCTGCTACTGCTCCCTGC	0.672																																																	0																																										SO:0001627	intron_variant	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.62-2937G>A	16.37:g.4257572C>T				Missense_Mutation	SNP	NULL	p.V199I	ENST00000399609.3	37	c.595	CCDS42113.1	16	.	.	.	.	.	.	.	.	.	.	c	12.04	1.818898	0.32145	.	.	ENSG00000185739	ENST00000330063	.	.	.	4.84	2.75	0.32379	.	.	.	.	.	T	0.37758	0.1015	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22521	-1.0214	5	0.40728	T	0.16	-5.6134	7.9956	0.30267	0.0:0.5989:0.3089:0.0922	.	.	.	.	I	199	.	ENSP00000333285:V199I	V	-	1	0	SRL	4197573	0.029000	0.19370	0.139000	0.22197	0.058000	0.15608	1.906000	0.39887	1.291000	0.44653	-0.757000	0.03467	GTA	SRL	-	NULL	ENSG00000185739		0.672	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRL	HGNC	protein_coding	OTTHUMT00000438087.1	-	0.00	44	0	C	XM_064152		4257572	-1	tier1	-	no_errors	ENST00000572111	ensembl	human	known	74_37	missense	47.06	36	32	SNP	0.004	T
SRP14	6727	genome.wustl.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-	rs371085676|rs377432895	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																																	0																																										SO:0001651	inframe_deletion	0				CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	pfam_Signal_recog_particle_SRP14,superfamily_Signal_recog_particle_SRP9/14,prints_Antifreeze_1	p.A116in_frame_del	ENST00000267884.6	37	c.348_346	CCDS42017.1	15																																																																																			SRP14	-	prints_Antifreeze_1	ENSG00000140319		0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP14	HGNC	protein_coding	OTTHUMT00000418262.2		0.00	57	0	TGC	NM_003134		40328599	-1	tier1		no_errors	ENST00000267884	ensembl	human	known	74_37	in_frame_del	10.58	93	11	DEL	0.058:0.058:0.057	-
SRP72	6731	genome.wustl.edu	37	4	57333820	57333820	+	Frame_Shift_Del	DEL	G	G	-	rs17524437	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:57333820delG	ENST00000342756.5	+	1	740	c.19delG	c.(19-21)gggfs	p.G8fs	SRP72_ENST00000504757.1_Frame_Shift_Del_p.G8fs|SRP72_ENST00000510663.1_Frame_Shift_Del_p.G8fs	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CGGCGGCAGCGGGGGGGTGTC	0.642																																																	0													14.0	16.0	15.0					4																	57333820		2193	4293	6486	SO:0001589	frameshift_variant	0			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.19delG	4.37:g.57333820delG	ENSP00000342181:p.Gly8fs		G5E9Z8|Q7Z3C0	Frame_Shift_Del	DEL	pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V9fs	ENST00000342756.5	37	c.19	CCDS3506.1	4																																																																																			SRP72	-	NULL	ENSG00000174780		0.642	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP72	HGNC	protein_coding	OTTHUMT00000250782.7		0.00	15	0	G			57333820	+1	tier1		no_errors	ENST00000342756	ensembl	human	known	74_37	frame_shift_del	52.94	16	18	DEL	0.920	-
SRPK1	6732	genome.wustl.edu	37	6	35838144	35838145	+	Frame_Shift_Ins	INS	-	-	T	rs12212199		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:35838144_35838145insT	ENST00000373825.2	-	10	1189_1190	c.904_905insA	c.(904-906)agafs	p.R302fs	SRPK1_ENST00000423325.2_Frame_Shift_Ins_p.R286fs|SRPK1_ENST00000373822.1_Frame_Shift_Ins_p.R195fs					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CTTGTTTGGTCTTTTTTGCCCA	0.416																																					NSCLC(31;67 978 16289 24856 26454)												0																																										SO:0001589	frameshift_variant	0			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.905dupA	6.37:g.35838150_35838150dupT	ENSP00000362931:p.Arg302fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R302fs	ENST00000373825.2	37	c.905_904	CCDS47415.1	6																																																																																			SRPK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000096063		0.416	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPK1	HGNC	protein_coding	OTTHUMT00000040319.3		0.00	52	0	-	NM_003137		35838145	-1	tier1		no_errors	ENST00000373825	ensembl	human	known	74_37	frame_shift_ins	18.00	41	9	INS	1.000:1.000	T
SRPR	6734	genome.wustl.edu	37	11	126137087	126137087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:126137087delT	ENST00000332118.6	-	4	663	c.509delA	c.(508-510)aagfs	p.K170fs	SRPR_ENST00000532259.1_Frame_Shift_Del_p.K142fs|FOXRED1_ENST00000263578.5_5'Flank|FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000532125.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	170					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)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.K170fs*33(2)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTGGCCCCCTTTTTTTTGCT	0.438																																																	2	Deletion - Frameshift(2)	ovary(2)											347.0	340.0	342.0					11																	126137087		2201	4299	6500	SO:0001589	frameshift_variant	0			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.509delA	11.37:g.126137087delT	ENSP00000328023:p.Lys170fs		A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Frame_Shift_Del	DEL	pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom	p.K170fs	ENST00000332118.6	37	c.509	CCDS31717.1	11																																																																																			SRPR	-	pfam_Sig_recog_particle_rcpt_asu_N	ENSG00000182934		0.438	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2		0.00	110	0	T	NM_003139		126137087	-1	tier1		no_errors	ENST00000332118	ensembl	human	known	74_37	frame_shift_del	20.28	114	29	DEL	0.991	-
SRRD	402055	genome.wustl.edu	37	22	26884176	26884176	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:26884176C>T	ENST00000215917.7	+	3	446	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	144					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GTGTGTGTTACGGCATTGGGA	0.453																																																	0													176.0	172.0	173.0					22																	26884176		2018	4191	6209	SO:0001819	synonymous_variant	0			BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.432C>T	22.37:g.26884176C>T			Q6NXP8	Silent	SNP	pfam_SRR1-like	p.Y144	ENST00000215917.7	37	c.432	CCDS42995.1	22																																																																																			SRRD	-	pfam_SRR1-like	ENSG00000100104		0.453	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRD	HGNC	protein_coding	OTTHUMT00000320423.2	-	0.00	19	0	C	NM_001013694		26884176	+1	tier1	-	no_errors	ENST00000215917	ensembl	human	known	74_37	silent	40.62	19	13	SNP	0.950	T
SRRM2	23524	genome.wustl.edu	37	16	2812095	2812095	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:2812095G>T	ENST00000301740.8	+	11	2115	c.1566G>T	c.(1564-1566)tgG>tgT	p.W522C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	522	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CACAGAGGTGGGGAAGATCTA	0.597																																																	0													73.0	64.0	67.0					16																	2812095		2198	4300	6498	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1566G>T	16.37:g.2812095G>T	ENSP00000301740:p.Trp522Cys		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.W522C	ENST00000301740.8	37	c.1566	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	8.482	0.859928	0.17178	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.23754	1.89	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000024	T	0.37679	0.1012	N	0.24115	0.695	0.52501	D	0.999952	D	0.76494	0.999	D	0.80764	0.994	T	0.08166	-1.0735	10	0.49607	T	0.09	-12.0999	15.779	0.78246	0.0:0.0:1.0:0.0	.	522	Q9UQ35	SRRM2_HUMAN	C	522;522;487	ENSP00000301740:W522C	ENSP00000301740:W522C	W	+	3	0	SRRM2	2752096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.182000	0.50910	2.801000	0.96364	0.655000	0.94253	TGG	SRRM2	-	NULL	ENSG00000167978		0.597	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1		0.00	25	0	G			2812095	+1			no_errors	ENST00000301740	ensembl	human	known	74_37	missense	12.50	27	4	SNP	1.000	T
TCEB2	6923	genome.wustl.edu	37	16	2821468	2821468	+	3'UTR	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:2821468C>T	ENST00000409906.4	-	0	937				AC092117.2_ENST00000581119.1_RNA|TCEB2_ENST00000262306.7_3'UTR|TCEB2_ENST00000409477.1_3'UTR	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)						cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|prostate(1)	3						CACTTCCCTCCGTGATTACAG	0.502																																					GBM(141;5215 5962)												0													106.0	102.0	103.0					16																	2821468		2198	4300	6498	SO:0001624	3_prime_UTR_variant	0			L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"""transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"""			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.*523G>A	16.37:g.2821468C>T			B7WPD3	RNA	SNP	-	NULL	ENST00000409906.4	37	NULL	CCDS45387.1	16																																																																																			SRRM2	-	-	ENSG00000167978		0.502	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000333975.2	-	0.00	42	0	C	NM_007108		2821468	+1	tier1	-	no_errors	ENST00000573583	ensembl	human	putative	74_37	rna	22.62	65	19	SNP	0.000	T
SS18L1	26039	genome.wustl.edu	37	20	60737811	60737811	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:60737811C>T	ENST00000331758.3	+	5	406	c.380C>T	c.(379-381)cCg>cTg	p.P127L	SS18L1_ENST00000370848.4_Missense_Mutation_p.P130L|SS18L1_ENST00000421564.1_Missense_Mutation_p.P127L|SS18L1_ENST00000491916.1_3'UTR	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	127	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			ATGCCAGGGCCGAGCCACGTG	0.642			T	SSX1	synovial sarcoma																																			Dom	yes		20	20q13.3	26039	synovial sarcoma translocation gene on chromosome 18-like 1		M	0													29.0	26.0	27.0					20																	60737811		2198	4295	6493	SO:0001583	missense	0			AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.380C>T	20.37:g.60737811C>T	ENSP00000333012:p.Pro127Leu		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	pfam_SS18_fam	p.P130L	ENST00000331758.3	37	c.389	CCDS13491.1	20	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887820	0.72410	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.41758	1.36;1.36;0.99	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.915;0.998	T	0.69599	-0.5102	10	0.87932	D	0	-24.3918	18.7907	0.91973	0.0:1.0:0.0:0.0	.	127;127	B4DSR7;O75177	.;CREST_HUMAN	L	127;127;130	ENSP00000393999:P127L;ENSP00000333012:P127L;ENSP00000359885:P130L	ENSP00000333012:P127L	P	+	2	0	SS18L1	60171206	1.000000	0.71417	0.927000	0.36925	0.168000	0.22595	7.386000	0.79775	2.438000	0.82558	0.563000	0.77884	CCG	SS18L1	-	NULL	ENSG00000184402		0.642	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SS18L1	HGNC	protein_coding	OTTHUMT00000080004.2	-	0.00	29	0	C			60737811	+1	tier1	-	no_errors	ENST00000370848	ensembl	human	known	74_37	missense	50.00	53	53	SNP	0.998	T
ST18	9705	genome.wustl.edu	37	8	53055599	53055599	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:53055599G>T	ENST00000276480.7	-	17	2742	c.2059C>A	c.(2059-2061)Cca>Aca	p.P687T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	687					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGCTCACTGGGTCTTTCTGG	0.393																																																	0													63.0	63.0	63.0					8																	53055599		2203	4300	6503	SO:0001583	missense	0			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2059C>A	8.37:g.53055599G>T	ENSP00000276480:p.Pro687Thr		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.P687T	ENST00000276480.7	37	c.2059	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473670	0.26423	.	.	ENSG00000147488	ENST00000276480	T	0.64260	-0.09	5.33	2.3	0.28687	Myelin transcription factor 1 (1);	0.777465	0.12601	N	0.454682	T	0.52386	0.1731	L	0.57536	1.79	0.31823	N	0.625746	B	0.06786	0.001	B	0.09377	0.004	T	0.50915	-0.8771	10	0.19147	T	0.46	-1.6151	6.822	0.23862	0.0703:0.127:0.6712:0.1315	.	687	O60284	ST18_HUMAN	T	687	ENSP00000276480:P687T	ENSP00000276480:P687T	P	-	1	0	ST18	53218152	0.588000	0.26799	0.988000	0.46212	0.958000	0.62258	0.226000	0.17776	0.594000	0.29761	0.650000	0.86243	CCA	ST18	-	pfam_Myelin_TF	ENSG00000147488		0.393	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	-	0.00	38	0	G			53055599	-1	tier1	-	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	28.79	94	38	SNP	0.925	T
PILRB	29990	genome.wustl.edu	37	7	99943553	99943553	+	5'UTR	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:99943553delT	ENST00000610247.1	+	0	493				STAG3L5P_ENST00000493499.1_RNA|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGAAGGGATTTTTTTTTTT	0.413																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000610247.1:c.-2004T>-	7.37:g.99943553delT			Q69YF9|Q9HBS0	RNA	DEL	-	NULL	ENST00000610247.1	37	NULL	CCDS43622.1	7																																																																																			STAG3L5P-PVRIG2P-PILRB	-	-	ENSG00000272752		0.413	PILRB-202	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG3L5P-PVRIG2P-PILRB	HGNC	protein_coding			0.00	15	0	T	NM_178238		99943553	+1	tier1		no_errors	ENST00000310771	ensembl	human	known	74_37	rna	42.31	15	11	DEL	0.002	-
STK11	6794	genome.wustl.edu	37	19	1220393	1220393	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:1220393C>T	ENST00000326873.7	+	4	1659	c.486C>T	c.(484-486)gaC>gaT	p.D162D		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	162	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		DGL -> NDM (in PJS).		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGATTGACGGCCTGGAGT	0.642		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	28	Whole gene deletion(20)|Unknown(4)|Deletion - Frameshift(4)	cervix(15)|lung(9)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											40.0	46.0	44.0					19																	1220393		2093	4232	6325	SO:0001819	synonymous_variant	0	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.486C>T	19.37:g.1220393C>T			B2RBX7|E7EW76	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D162	ENST00000326873.7	37	c.486	CCDS45896.1	19																																																																																			STK11	-	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	ENSG00000118046		0.642	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	-	0.00	33	0	C	NM_000455		1220393	+1	tier1	-	no_errors	ENST00000326873	ensembl	human	known	74_37	silent	31.65	54	25	SNP	0.955	T
STK17A	9263	genome.wustl.edu	37	7	43647973	43647973	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:43647973C>T	ENST00000319357.5	+	3	717	c.538C>T	c.(538-540)Cgt>Tgt	p.R180C	STK17A_ENST00000462448.1_3'UTR	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTTACACACTCGTGATGTAGT	0.318																																																	0													115.0	114.0	114.0					7																	43647973		2203	4300	6503	SO:0001583	missense	0			AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 1"""	604726	"""serine/threonine kinase 17a (apoptosis-inducing)"""			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.538C>T	7.37:g.43647973C>T	ENSP00000319192:p.Arg180Cys		A4D1V6|Q8IVC8	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.R180C	ENST00000319357.5	37	c.538	CCDS5470.1	7	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884004	0.33255	.	.	ENSG00000164543	ENST00000319357	T	0.66815	-0.23	4.57	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.321554	0.21459	U	0.074194	T	0.52709	0.1751	N	0.21448	0.665	0.29155	N	0.878107	B	0.06786	0.001	B	0.01281	0.0	T	0.54241	-0.8323	10	0.59425	D	0.04	.	12.7945	0.57553	0.2068:0.7932:0.0:0.0	.	180	Q9UEE5	ST17A_HUMAN	C	180	ENSP00000319192:R180C	ENSP00000319192:R180C	R	+	1	0	STK17A	43614498	0.986000	0.35501	0.939000	0.37840	0.954000	0.61252	2.651000	0.46674	2.245000	0.73994	0.650000	0.86243	CGT	STK17A	-	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	ENSG00000164543		0.318	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17A	HGNC	protein_coding	OTTHUMT00000250902.1	-	0.00	43	0	C	NM_004760		43647973	+1	tier1	-	no_errors	ENST00000319357	ensembl	human	known	74_37	missense	35.82	43	24	SNP	0.983	T
RNF217-AS1	7955	genome.wustl.edu	37	6	125232172	125232172	+	RNA	SNP	C	C	T	rs372298254		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:125232172C>T	ENST00000439075.1	-	0	2573					NR_026876.1																						TTCCACAGGGCGGTCTAAAAG	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		15028	0.001		0.0	False		,,,				2504	0.0																0								C		3,1749		0,3,873	41.0	41.0	41.0			-3.4	0.0	6		41	0,3982		0,0,1991	no	intergenic				0,3,2864	TT,TC,CC		0.0,0.1712,0.0523			125232172	3,5731	876	1991	2867			0																															6.37:g.125232172C>T				RNA	SNP	-	NULL	ENST00000439075.1	37	NULL		6																																																																																			RP11-510H23.1	-	-	ENSG00000236548		0.353	RP11-510H23.1-001	KNOWN	basic	antisense	STL	Clone_based_vega_gene	antisense	OTTHUMT00000042059.1	-	0.00	20	0	C			125232172	-1	tier1	-	no_errors	ENST00000439075	ensembl	human	known	74_37	rna	56.52	9	13	SNP	0.000	T
SURF1	6834	genome.wustl.edu	37	9	136218825	136218826	+	Frame_Shift_Del	DEL	AG	AG	-	rs377667235		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:136218825_136218826delAG	ENST00000371974.3	-	9	876_877	c.845_846delCT	c.(844-846)tctfs	p.S282fs	SNORD36B_ENST00000363961.1_RNA|SNORD24_ENST00000383884.1_RNA|SURF1_ENST00000495952.1_5'UTR|SNORD36C_ENST00000516733.1_RNA|SNORD36A_ENST00000362874.1_RNA	NM_001280787.1|NM_003172.2	NP_001267716.1|NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1	282					aerobic respiration (GO:0009060)|ATP biosynthetic process (GO:0006754)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory chain complex IV assembly (GO:0008535)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		ATGTAGCTGCAGAGAGTCCATA	0.54											OREG0019585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			GRCh37	CD982969	SURF1	D				14,4250		7,0,2125						5.4	1.0			71	43,8211		21,1,4105	no	frameshift	SURF1	NM_003172.2		28,1,6230	A1A1,A1R,RR		0.521,0.3283,0.4553				57,12461				SO:0001589	frameshift_variant	0				CCDS6966.1, CCDS75928.1	9q33-q34	2012-10-12			ENSG00000148290	ENSG00000148290		"""Mitochondrial respiratory chain complex assembly factors"""	11474	protein-coding gene	gene with protein product	"""surfeit locus protein 1"""	185620				8499913, 9843204	Standard	NM_003172		Approved		uc004cdh.1	Q15526	OTTHUMG00000020866	ENST00000371974.3:c.845_846delCT	9.37:g.136218829_136218830delAG	ENSP00000361042:p.Ser282fs	1624	Q5T8T3|Q5T8T4	Frame_Shift_Del	DEL	pfam_Surf1/Shy1,pfscan_Surf1/Shy1	p.S282fs	ENST00000371974.3	37	c.846_845	CCDS6966.1	9																																																																																			SURF1	-	pfam_Surf1/Shy1,pfscan_Surf1/Shy1	ENSG00000148290		0.540	SURF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF1	HGNC	protein_coding	OTTHUMT00000054879.1		0.00	37	0	AG	NM_003172		136218826	-1	tier1		no_errors	ENST00000371974	ensembl	human	known	74_37	frame_shift_del	28.07	41	16	DEL	1.000:1.000	-
SVEP1	79987	genome.wustl.edu	37	9	113208246	113208246	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:113208246A>G	ENST00000401783.2	-	26	4670	c.4334T>C	c.(4333-4335)cTc>cCc	p.L1445P	SVEP1_ENST00000302728.8_Missense_Mutation_p.L1445P|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.L1422P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1445	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAGAGATGGGAGCATGCCATC	0.443																																																	0													123.0	118.0	120.0					9																	113208246		1951	4155	6106	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4334T>C	9.37:g.113208246A>G	ENSP00000384917:p.Leu1445Pro		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.L1445P	ENST00000401783.2	37	c.4334	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	A	14.95	2.688183	0.48097	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.76448	3.2;3.2;-1.02	5.5	4.35	0.52113	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.101413	0.64402	N	0.000005	D	0.88355	0.6414	M	0.88640	2.97	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.972	D	0.88369	0.2993	10	0.46703	T	0.11	.	11.6687	0.51389	0.93:0.0:0.07:0.0	.	1445;1445	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	P	1445;1422;1445	ENSP00000384917:L1445P;ENSP00000363593:L1422P;ENSP00000304118:L1445P	ENSP00000304118:L1445P	L	-	2	0	SVEP1	112248067	1.000000	0.71417	0.090000	0.20809	0.211000	0.24417	8.908000	0.92640	1.020000	0.39573	0.533000	0.62120	CTC	SVEP1	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin	ENSG00000165124		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		-	0.00	23	0	A			113208246	-1	tier1	-	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	31.71	28	13	SNP	0.969	G
SVIL	6840	genome.wustl.edu	37	10	29762850	29762852	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:29762850_29762852delAGA	ENST00000355867.4	-	30	6196_6198	c.5444_5446delTCT	c.(5443-5448)ttctgg>tgg	p.F1815del	SVIL_ENST00000375400.3_In_Frame_Del_p.F1389del|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_In_Frame_Del_p.F729del|SVIL_ENST00000375398.2_In_Frame_Del_p.F1815del|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1815					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGGCCTTGCCAGAAGAAGTAGAC	0.626																																																	0																																										SO:0001651	inframe_deletion	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5444_5446delTCT	10.37:g.29762853_29762855delAGA	ENSP00000348128:p.Phe1815del		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	In_Frame_Del	DEL	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.F1815in_frame_del	ENST00000355867.4	37	c.5446_5444	CCDS7164.1	10																																																																																			SVIL	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin	ENSG00000197321		0.626	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1		0.00	20	0	AGA			29762852	-1	tier1		no_errors	ENST00000355867	ensembl	human	known	74_37	in_frame_del	13.64	19	3	DEL	1.000:1.000:1.000	-
SWT1	54823	genome.wustl.edu	37	1	185151134	185151134	+	Silent	SNP	T	T	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:185151134T>A	ENST00000367500.4	+	7	1248	c.1083T>A	c.(1081-1083)ccT>ccA	p.P361P	SWT1_ENST00000367501.3_Silent_p.P361P	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	361										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGGATTTACCTGGAGAGTTAA	0.393																																																	0													190.0	168.0	176.0					1																	185151134		2203	4300	6503	SO:0001819	synonymous_variant	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1083T>A	1.37:g.185151134T>A			Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	smart_PIN_dom	p.P361	ENST00000367500.4	37	c.1083	CCDS1367.1	1																																																																																			SWT1	-	NULL	ENSG00000116668		0.393	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	-	0.00	30	0	T	NM_017673		185151134	+1	tier1	-	no_errors	ENST00000367500	ensembl	human	known	74_37	silent	17.39	38	8	SNP	0.992	A
SYCP3	50511	genome.wustl.edu	37	12	102122901	102122901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:102122901delT	ENST00000392927.3	-	8	774	c.643delA	c.(643-645)attfs	p.I215fs	SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	215	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCCATCATAATTTTTTTTTGC	0.259																																																	0			GRCh37	CD035010	SYCP3	D			,,	9,54,4181		1,0,7,9,36,2069	53.0	55.0	54.0		,,	4.2	1.0	12		55	10,59,8149		0,0,10,17,25,4057	no	codingComplex,codingComplex,codingComplex	SYCP3	NM_153694.4,NM_001177949.1,NM_001177948.1	,,	1,0,17,26,61,6126	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8396,1.4844,1.0592	,,	,,	102122901	19,113,12330	2198	4284	6482	SO:0001589	frameshift_variant	0			AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.643delA	12.37:g.102122901delT	ENSP00000376658:p.Ile215fs			Frame_Shift_Del	DEL	pfam_Cor1/Xlr/Xmr	p.I215fs	ENST00000392927.3	37	c.643	CCDS9087.1	12																																																																																			SYCP3	-	NULL	ENSG00000139351		0.259	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	SYCP3	HGNC	protein_coding	OTTHUMT00000316478.2		0.00	36	0	T	NM_153694		102122901	-1	tier1		no_errors	ENST00000266743	ensembl	human	known	74_37	frame_shift_del	45.71	19	16	DEL	0.988	-
SYDE1	85360	genome.wustl.edu	37	19	15222161	15222161	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:15222161T>C	ENST00000342784.2	+	5	1359	c.1328T>C	c.(1327-1329)gTg>gCg	p.V443A	SYDE1_ENST00000600440.1_Missense_Mutation_p.V376A|SYDE1_ENST00000600252.1_Missense_Mutation_p.V100A	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	443	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						TCAGCGGCAGTGAAGAAAGAG	0.567																																																	0													150.0	119.0	129.0					19																	15222161		2203	4300	6503	SO:0001583	missense	0			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1328T>C	19.37:g.15222161T>C	ENSP00000341489:p.Val443Ala		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V443A	ENST00000342784.2	37	c.1328	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618155	0.66787	.	.	ENSG00000105137	ENST00000342784	T	0.18338	2.22	5.3	5.3	0.74995	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.079753	0.49305	D	0.000146	T	0.30008	0.0751	L	0.46885	1.475	0.52501	D	0.999951	P;D;P	0.69078	0.872;0.997;0.872	P;D;P	0.64042	0.679;0.921;0.679	T	0.02220	-1.1193	10	0.21540	T	0.41	.	13.1938	0.59726	0.0:0.0:0.0:1.0	.	376;376;443	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	A	443	ENSP00000341489:V443A	ENSP00000341489:V443A	V	+	2	0	SYDE1	15083161	1.000000	0.71417	0.895000	0.35142	0.683000	0.39861	5.811000	0.69187	2.013000	0.59113	0.459000	0.35465	GTG	SYDE1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000105137		0.567	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	-	0.00	74	0	T	NM_033025		15222161	+1	tier1	-	no_errors	ENST00000342784	ensembl	human	known	74_37	missense	27.18	74	28	SNP	1.000	C
SYMPK	8189	genome.wustl.edu	37	19	46328449	46328449	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:46328449G>A	ENST00000245934.7	-	18	2714	c.2470C>T	c.(2470-2472)Ctg>Ttg	p.L824L	SYMPK_ENST00000598155.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	824					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)		ATGACCCTCAGCACCGTCCGC	0.642																																																	0													124.0	92.0	103.0					19																	46328449		2203	4300	6503	SO:0001819	synonymous_variant	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2470C>T	19.37:g.46328449G>A			O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.L824	ENST00000245934.7	37	c.2470	CCDS12676.2	19																																																																																			SYMPK	-	superfamily_ARM-type_fold	ENSG00000125755		0.642	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	-	0.00	53	0	G	NM_004819		46328449	-1	tier1	-	no_errors	ENST00000245934	ensembl	human	known	74_37	silent	62.73	41	69	SNP	1.000	A
SYNE2	23224	genome.wustl.edu	37	14	64655376	64655376	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:64655376C>G	ENST00000344113.4	+	98	18033	c.17821C>G	c.(17821-17823)Cta>Gta	p.L5941V	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.L2326V|SYNE2_ENST00000394768.2_Missense_Mutation_p.L2326V|SYNE2_ENST00000554584.1_Missense_Mutation_p.L5754V|SYNE2_ENST00000555002.1_Missense_Mutation_p.L2575V|SYNE2_ENST00000358025.3_Missense_Mutation_p.L5941V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5941					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACAAAGTTCTACAGACAGC	0.398																																																	0													93.0	90.0	91.0					14																	64655376		2203	4300	6503	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17821C>G	14.37:g.64655376C>G	ENSP00000341781:p.Leu5941Val		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L5941V	ENST00000344113.4	37	c.17821	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428272	0.43122	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.58	3.75	0.43078	.	0.000000	0.36740	N	0.002424	T	0.76673	0.4020	L	0.51422	1.61	0.58432	D	0.999998	P;P;P;P;P	0.48998	0.544;0.771;0.782;0.757;0.918	B;B;B;B;P	0.52881	0.437;0.348;0.223;0.403;0.712	T	0.72197	-0.4363	10	0.23891	T	0.37	.	8.8049	0.34932	0.0:0.7119:0.0:0.2881	.	2326;329;5754;5941;5941	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	V	5941;2326;5941;5754;5760;2575;2326	ENSP00000350719:L5941V;ENSP00000349969:L2326V;ENSP00000341781:L5941V;ENSP00000452570:L5754V;ENSP00000450831:L2575V;ENSP00000378249:L2326V	ENSP00000261678:L5760V	L	+	1	2	SYNE2	63725129	0.758000	0.28405	0.972000	0.41901	0.896000	0.52359	0.162000	0.16501	1.354000	0.45846	0.650000	0.86243	CTA	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2		0.00	13	0	C	NM_182914		64655376	+1			no_errors	ENST00000358025	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.779	G
SYT2	127833	genome.wustl.edu	37	1	202574790	202574790	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:202574790C>T	ENST00000367267.1	-	2	303	c.111G>A	c.(109-111)ggG>ggA	p.G37G	SYT2_ENST00000367268.4_Silent_p.G37G|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	37					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCTGGCTCTCCCCAGCACCCC	0.547																																																	0													68.0	66.0	67.0					1																	202574790		2203	4300	6503	SO:0001819	synonymous_variant	0			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.111G>A	1.37:g.202574790C>T			Q496K5|Q8NBE5	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.G37	ENST00000367267.1	37	c.111	CCDS1427.1	1																																																																																			SYT2	-	NULL	ENSG00000143858		0.547	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT2	HGNC	protein_coding	OTTHUMT00000099157.1	-	0.00	105	0	C	NM_177402		202574790	-1	tier1	-	no_errors	ENST00000367267	ensembl	human	known	74_37	silent	46.33	94	82	SNP	0.097	T
TAF1C	9013	genome.wustl.edu	37	16	84213651	84213651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:84213651delG	ENST00000567759.1	-	13	1782	c.1600delC	c.(1600-1602)cagfs	p.Q534fs	TAF1C_ENST00000378541.4_Frame_Shift_Del_p.Q534fs|TAF1C_ENST00000541676.1_Frame_Shift_Del_p.Q441fs|TAF1C_ENST00000566732.1_Frame_Shift_Del_p.Q508fs|TAF1C_ENST00000570117.1_Frame_Shift_Del_p.Q202fs|TAF1C_ENST00000341690.6_Frame_Shift_Del_p.Q440fs	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	534					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.Q534fs*19(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGAAGAGACTGGGGGGGGCCT	0.667																																																	1	Insertion - Frameshift(1)	ovary(1)							,	31,47,3962		1,0,29,6,35,1949	14.0	19.0	17.0		,	3.5	1.0	16		17	33,40,7789		2,0,29,2,36,3862	no	codingComplex,codingComplex	TAF1C	NM_139353.2,NM_005679.3	,	3,0,58,8,71,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9285,1.9307,1.2687	,	,	84213651	64,87,11751	2142	4227	6369	SO:0001589	frameshift_variant	0			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1600delC	16.37:g.84213651delG	ENSP00000455265:p.Gln534fs		B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Frame_Shift_Del	DEL	superfamily_WD40_repeat_dom	p.Q534fs	ENST00000567759.1	37	c.1600	CCDS32496.1	16																																																																																			TAF1C	-	NULL	ENSG00000103168		0.667	TAF1C-001	KNOWN	basic|CCDS	protein_coding	TAF1C	HGNC	protein_coding	OTTHUMT00000433045.2		0.00	8	0	G	NM_139353		84213651	-1	tier1		no_errors	ENST00000378541	ensembl	human	known	74_37	frame_shift_del	29.41	12	5	DEL	0.998	-
TAF1D	79101	genome.wustl.edu	37	11	93469128	93469128	+	3'UTR	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:93469128delT	ENST00000448108.2	-	0	1686				SNORD5_ENST00000459342.1_RNA|SNORA40_ENST00000388090.1_RNA|MIR1304_ENST00000408243.1_RNA|SNORA18_ENST00000384416.1_RNA|TAF1D_ENST00000546088.1_5'UTR	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa						gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GTTTTAATGGTTTTTTTTCTA	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.*199A>-	11.37:g.93469128delT			Q6I9Y6	RNA	DEL	-	NULL	ENST00000448108.2	37	NULL	CCDS8293.1	11																																																																																			TAF1D	-	-	ENSG00000166012		0.279	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1D	HGNC	protein_coding	OTTHUMT00000394662.2		0.00	12	0	T	NM_024116		93469128	-1	tier1		no_errors	ENST00000530089	ensembl	human	known	74_37	rna	28.57	10	4	DEL	0.001	-
TANC1	85461	genome.wustl.edu	37	2	160050800	160050800	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:160050800C>T	ENST00000263635.6	+	17	3012	c.2775C>T	c.(2773-2775)aaC>aaT	p.N925N	TANC1_ENST00000454300.1_Silent_p.N819N	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	925					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GAGGGGCCAACGTGAACTACA	0.502																																																	0													77.0	77.0	77.0					2																	160050800		1970	4154	6124	SO:0001819	synonymous_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2775C>T	2.37:g.160050800C>T			C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.N925	ENST00000263635.6	37	c.2775	CCDS42766.1	2																																																																																			TANC1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000115183		0.502	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	-	0.00	34	0	C			160050800	+1	tier1	-	no_errors	ENST00000263635	ensembl	human	known	74_37	silent	25.00	54	18	SNP	0.954	T
TARS	6897	genome.wustl.edu	37	5	33441106	33441106	+	5'UTR	SNP	G	G	A	rs543938072	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:33441106G>A	ENST00000265112.3	+	0	225				TARS_ENST00000414361.2_5'UTR|TARS_ENST00000455217.2_5'UTR|TARS_ENST00000502553.1_Intron|CTD-2203K17.1_ENST00000507251.1_RNA|TARS_ENST00000541634.1_5'UTR	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase						gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GCCAAGTCCCGGGCGCTAGCC	0.627																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.-87G>A	5.37:g.33441106G>A			A8K8I1|B4DEG8|Q96FP5|Q9BWA6	RNA	SNP	-	NULL	ENST00000265112.3	37	NULL	CCDS3899.1	5																																																																																			TARS	-	-	ENSG00000113407		0.627	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	-	0.00	25	0	G	NM_152295		33441106	+1	tier1	-	no_errors	ENST00000502508	ensembl	human	known	74_37	rna	27.62	76	29	SNP	0.000	A
TBC1D1	23216	genome.wustl.edu	37	4	38134424	38134426	+	Intron	DEL	TTT	TTT	-	rs71190957|rs61642658		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:38134424_38134426delTTT	ENST00000261439.4	+	19	3487				TBC1D1_ENST00000407365.1_Intron|TBC1D1_ENST00000508802.1_Intron	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAATGAGAGGTTTTTTTTTTTTT	0.271																																																	0																																										SO:0001627	intron_variant	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3133-279TTT>-	4.37:g.38134433_38134435delTTT			B7Z3D9|E9PGH8|Q96K82|Q9UPP4	RNA	DEL	-	NULL	ENST00000261439.4	37	NULL	CCDS33972.1	4																																																																																			TBC1D1	-	-	ENSG00000065882		0.271	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2		0.00	30	0	TTT	NM_015173		38134426	+1	tier1		no_errors	ENST00000405444	ensembl	human	known	74_37	rna	25.00	45	15	DEL	0.018:0.027:0.074	-
TBC1D29	26083	genome.wustl.edu	37	17	28887667	28887667	+	Silent	SNP	T	T	C	rs78888987	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:28887667T>C	ENST00000580161.1	+	4	2608	c.111T>C	c.(109-111)gaT>gaC	p.D37D	TBC1D29_ENST00000584297.1_Silent_p.D37D|RP11-218M11.6_ENST00000582125.1_RNA|TBC1D29_ENST00000579181.1_Silent_p.D37D			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	37	Rab-GAP TBC; truncated. {ECO:0000255|PROSITE-ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.D37D(1)		breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				GCCTGTGGGATATGTATTTGC	0.572																																																	1	Substitution - coding silent(1)	lung(1)											149.0	126.0	134.0					17																	28887667		2203	4300	6503	SO:0001819	synonymous_variant	0			BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.111T>C	17.37:g.28887667T>C				Silent	SNP	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.D37	ENST00000580161.1	37	c.111	CCDS32606.1	17																																																																																			TBC1D29	-	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000266733		0.572	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TBC1D29	HGNC	protein_coding	OTTHUMT00000443632.1	-	0.00	63	0	T	NM_015594		28887667	+1	tier1	rs78888987	no_errors	ENST00000579181	ensembl	human	known	74_37	silent	7.84	141	12	SNP	1.000	C
TBC1D30	23329	genome.wustl.edu	37	12	65269009	65269009	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:65269009T>C	ENST00000229088.6	+	13	2216	c.2216T>C	c.(2215-2217)aTg>aCg	p.M739T	TBC1D30_ENST00000539867.1_Missense_Mutation_p.M576T|TBC1D30_ENST00000542120.1_Missense_Mutation_p.M462T			Q9Y2I9	TBC30_HUMAN	TBC1 domain family, member 30	739					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)	ciliary basal body (GO:0036064)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			NS(3)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	5						AAAAAGAACATGCCAAGGACC	0.562																																																	0																																										SO:0001583	missense	0			AB023201	CCDS53813.1	12q14.3	2013-07-10			ENSG00000111490	ENSG00000111490			29164	protein-coding gene	gene with protein product		615077				12618308, 17646400	Standard	NM_015279		Approved	KIAA0984	uc010sst.2	Q9Y2I9	OTTHUMG00000168824	ENST00000229088.6:c.2216T>C	12.37:g.65269009T>C	ENSP00000229088:p.Met739Thr		B3KP01|B9A6M9|E7EMW4|F5GYJ9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.M739T	ENST00000229088.6	37	c.2216		12	.	.	.	.	.	.	.	.	.	.	T	10.17	1.277836	0.23307	.	.	ENSG00000111490	ENST00000229088;ENST00000542120;ENST00000539867;ENST00000455166;ENST00000411580	T;T;T	0.07021	3.23;3.27;3.26	5.06	2.7	0.31948	.	0.315706	0.32836	N	0.005599	T	0.09686	0.0238	L	0.57536	1.79	0.25713	N	0.985464	B;B;B	0.24882	0.113;0.002;0.005	B;B;B	0.23716	0.048;0.004;0.004	T	0.21724	-1.0237	9	.	.	.	-11.3579	11.0796	0.48051	0.0:0.0881:0.0:0.9119	.	576;739;576	F5GYJ9;Q9Y2I9;E7EMW4	.;TBC30_HUMAN;.	T	739;462;576;576;534	ENSP00000229088:M739T;ENSP00000440640:M462T;ENSP00000440207:M576T	.	M	+	2	0	TBC1D30	63555276	1.000000	0.71417	0.087000	0.20705	0.589000	0.36550	3.175000	0.50855	0.280000	0.22209	0.383000	0.25322	ATG	TBC1D30	-	NULL	ENSG00000111490		0.562	TBC1D30-201	KNOWN	basic	protein_coding	TBC1D30	HGNC	protein_coding		-	0.00	18	0	T	XM_037557		65269009	+1	tier1	-	no_errors	ENST00000229088	ensembl	human	known	74_37	missense	41.03	23	16	SNP	0.702	C
LOC101927755	101927755	genome.wustl.edu	37	17	58066651	58066651	+	lincRNA	SNP	C	C	T	rs376360537		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333																																																	0																																												0																															17.37:g.58066651C>T				RNA	SNP	-	NULL	ENST00000586209.1	37	NULL		17																																																																																			TBC1D3P1-DHX40P1	-	-	ENSG00000267104		0.333	RP11-178C3.2-001	KNOWN	basic	lincRNA	TBC1D3P1-DHX40P1	HGNC	lincRNA	OTTHUMT00000449162.1		0.00	28	0	C			58066651	-1			no_errors	ENST00000587125	ensembl	human	known	74_37	rna	11.76	30	4	SNP	1.000	T
TBC1D9B	23061	genome.wustl.edu	37	5	179306764	179306764	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:179306764G>A	ENST00000356834.3	-	8	1317	c.1280C>T	c.(1279-1281)tCg>tTg	p.S427L	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S427L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	427						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCTGCTCCGACCCCTCCTG	0.637																																																	0													21.0	27.0	25.0					5																	179306764		2201	4298	6499	SO:0001583	missense	0			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1280C>T	5.37:g.179306764G>A	ENSP00000349291:p.Ser427Leu		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.S427L	ENST00000356834.3	37	c.1280	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400959	0.25291	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.09911	2.93;3.01	4.67	1.39	0.22231	.	1.647340	0.03295	N	0.188122	T	0.13670	0.0331	M	0.71581	2.175	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.003	B;B;B	0.10450	0.002;0.005;0.002	T	0.33574	-0.9863	10	0.35671	T	0.21	2.8138	1.5725	0.02618	0.2076:0.3538:0.2966:0.142	.	427;427;427	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	L	427	ENSP00000349291:S427L;ENSP00000347375:S427L	ENSP00000347375:S427L	S	-	2	0	TBC1D9B	179239370	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.562000	0.23531	0.058000	0.16222	0.550000	0.68814	TCG	TBC1D9B	-	NULL	ENSG00000197226		0.637	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	-	0.00	21	0	G	NM_015043		179306764	-1	tier1	-	no_errors	ENST00000356834	ensembl	human	known	74_37	missense	73.81	11	31	SNP	0.000	A
TBCD	6904	genome.wustl.edu	37	17	80895806	80895806	+	Intron	SNP	G	G	A	rs535183295		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:80895806G>A	ENST00000355528.4	+	36	3411				TBCD_ENST00000539345.2_Silent_p.P1122P|TBCD_ENST00000576691.1_3'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D						'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCCCAGGCCCGCACTGTGCTC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18384	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.3282-119G>A	17.37:g.80895806G>A			O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold	p.P1122	ENST00000355528.4	37	c.3366	CCDS45818.1	17																																																																																			TBCD	-	NULL	ENSG00000141556		0.642	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCD	HGNC	protein_coding	OTTHUMT00000439415.1	-	0.00	55	0	G	NM_005993		80895806	+1	tier1	-	no_errors	ENST00000539345	ensembl	human	novel	74_37	silent	48.57	36	34	SNP	0.001	A
TBP	6908	genome.wustl.edu	37	6	170871055	170871055	+	Silent	SNP	G	G	A	rs112928724|rs369312237		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:170871055G>A	ENST00000392092.2	+	3	510	c.231G>A	c.(229-231)caG>caA	p.Q77Q	TBP_ENST00000230354.6_Silent_p.Q77Q|TBP_ENST00000540980.1_Silent_p.Q57Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	77	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)			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)		aacagcagcagcagcagcagc	0.572																																																	0													14.0	18.0	17.0					6																	170871055		1934	3804	5738	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.231G>A	6.37:g.170871055G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q77	ENST00000392092.2	37	c.231	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	-	0.00	50	0	G	NM_003194		170871055	+1	tier1	rs112928724	no_errors	ENST00000230354	ensembl	human	known	74_37	silent	8.16	89	8	SNP	0.993	A
TBX10	347853	genome.wustl.edu	37	11	67399149	67399149	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:67399149A>G	ENST00000335385.3	-	8	1172	c.1085T>C	c.(1084-1086)cTg>cCg	p.L362P	NUDT8_ENST00000376693.2_5'Flank|NUDT8_ENST00000301490.4_5'Flank	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	362					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						TGGGAGAGGCAGGCCTCCTTG	0.672																																																	0													18.0	16.0	17.0					11																	67399149		2193	4287	6480	SO:0001583	missense	0			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.1085T>C	11.37:g.67399149A>G	ENSP00000335191:p.Leu362Pro		Q14D64|Q86XS3	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L362P	ENST00000335385.3	37	c.1085	CCDS31621.1	11	.	.	.	.	.	.	.	.	.	.	A	8.320	0.824012	0.16678	.	.	ENSG00000167800	ENST00000335385	D	0.87256	-2.23	4.1	0.207	0.15214	.	.	.	.	.	T	0.71904	0.3395	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.59947	-0.7358	9	0.51188	T	0.08	.	2.3445	0.04268	0.5242:0.0:0.2599:0.2159	.	362	O75333	TBX10_HUMAN	P	362	ENSP00000335191:L362P	ENSP00000335191:L362P	L	-	2	0	TBX10	67155725	0.013000	0.17824	0.145000	0.22337	0.617000	0.37484	0.594000	0.24014	0.471000	0.27319	0.454000	0.30748	CTG	TBX10	-	NULL	ENSG00000167800		0.672	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX10	HGNC	protein_coding	OTTHUMT00000394034.1	-	0.00	40	0	A	NM_005995		67399149	-1	tier1	-	no_errors	ENST00000335385	ensembl	human	known	74_37	missense	11.33	180	23	SNP	0.006	G
TCF20	6942	genome.wustl.edu	37	22	42608248	42608248	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:42608248G>A	ENST00000359486.3	-	1	3200	c.3064C>T	c.(3064-3066)Cgg>Tgg	p.R1022W	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.R1022W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1022					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTCTGCTCCGCCCAGGAGAC	0.547																																																	0													46.0	49.0	48.0					22																	42608248		2203	4300	6503	SO:0001583	missense	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3064C>T	22.37:g.42608248G>A	ENSP00000352463:p.Arg1022Trp		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.R1022W	ENST00000359486.3	37	c.3064	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386232	0.61956	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.70164	-0.46;-0.46	5.92	2.48	0.30137	.	0.000000	0.64402	D	0.000001	T	0.70491	0.3230	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.73519	-0.3957	10	0.72032	D	0.01	-22.7994	15.0343	0.71731	0.0:0.0:0.4266:0.5734	.	1022;1022	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	W	1022	ENSP00000352463:R1022W;ENSP00000335561:R1022W	ENSP00000335561:R1022W	R	-	1	2	TCF20	40938192	0.919000	0.31177	0.998000	0.56505	0.980000	0.70556	0.804000	0.27098	0.496000	0.27904	-0.262000	0.10625	CGG	TCF20	-	NULL	ENSG00000100207		0.547	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	-	0.00	39	0	G	NM_181492		42608248	-1	tier1	-	no_errors	ENST00000359486	ensembl	human	known	74_37	missense	11.76	60	8	SNP	0.895	A
TCF25	22980	genome.wustl.edu	37	16	89972642	89972642	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:89972642C>T	ENST00000263346.8	+	15	1725	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.R322C	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	557					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GAATATCCACCGCCATGTGAT	0.567																																																	0													66.0	57.0	60.0					16																	89972642		2197	4300	6497	SO:0001583	missense	0			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1669C>T	16.37:g.89972642C>T	ENSP00000263346:p.Arg557Cys		Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.R557C	ENST00000263346.8	37	c.1669	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292056	0.80914	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.28	5.28	0.74379	.	0.047549	0.85682	D	0.000000	D	0.85902	0.5805	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89154	0.3525	9	0.87932	D	0	.	14.7916	0.69846	0.1445:0.8555:0.0:0.0	.	322;557	Q9H384;Q9BQ70	.;TCF25_HUMAN	C	557;322	.	ENSP00000263346:R557C	R	+	1	0	TCF25	88500143	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.893000	0.56243	2.626000	0.88956	0.655000	0.94253	CGC	TCF25	-	pfam_TCF25	ENSG00000141002		0.567	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	-	0.00	41	0	C	NM_014972		89972642	+1	tier1	-	no_errors	ENST00000263346	ensembl	human	known	74_37	missense	21.95	64	18	SNP	1.000	T
TCFL5	10732	genome.wustl.edu	37	20	61488860	61488860	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:61488860A>G	ENST00000335351.3	-	4	1217	c.1125T>C	c.(1123-1125)gcT>gcC	p.A375A	TCFL5_ENST00000217162.5_Silent_p.A327A	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	375					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					AGGACTGCCAAGCGCCTTGTG	0.587																																																	0													126.0	119.0	121.0					20																	61488860		2203	4300	6503	SO:0001819	synonymous_variant	0			AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1125T>C	20.37:g.61488860A>G			O94771|Q9BYW0	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A375	ENST00000335351.3	37	c.1125	CCDS13506.1	20																																																																																			TCFL5	-	NULL	ENSG00000101190		0.587	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCFL5	HGNC	protein_coding	OTTHUMT00000080079.2	-	0.00	39	0	A	NM_006602		61488860	-1	tier1	-	no_errors	ENST00000335351	ensembl	human	known	74_37	silent	51.72	42	45	SNP	0.003	G
TCHP	84260	genome.wustl.edu	37	12	110350842	110350842	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:110350842C>T	ENST00000312777.5	+	10	1313	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	TCHP_ENST00000405876.4_Nonsense_Mutation_p.R367*	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AGAGTGGGCCCGAGAGCGCAG	0.627																																																	0													87.0	71.0	76.0					12																	110350842		2203	4300	6503	SO:0001587	stop_gained	0			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1099C>T	12.37:g.110350842C>T	ENSP00000324404:p.Arg367*			Nonsense_Mutation	SNP	NULL	p.R367*	ENST00000312777.5	37	c.1099	CCDS9137.1	12	.	.	.	.	.	.	.	.	.	.	C	28.0	4.886039	0.91814	.	.	ENSG00000139437	ENST00000405876;ENST00000312777;ENST00000551627	.	.	.	5.09	4.14	0.48551	.	0.307711	0.30752	N	0.008959	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0513	11.4262	0.50012	0.2743:0.7257:0.0:0.0	.	.	.	.	X	367;367;11	.	ENSP00000324404:R367X	R	+	1	2	TCHP	108835225	0.998000	0.40836	1.000000	0.80357	0.873000	0.50193	3.354000	0.52254	2.503000	0.84419	0.650000	0.86243	CGA	TCHP	-	NULL	ENSG00000139437		0.627	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TCHP	HGNC	protein_coding	OTTHUMT00000403289.1	-	0.00	28	0	C	NM_032300		110350842	+1	tier1	-	no_errors	ENST00000312777	ensembl	human	known	74_37	nonsense	25.93	40	14	SNP	1.000	T
TCHP	84260	genome.wustl.edu	37	12	110353217	110353217	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:110353217C>T	ENST00000312777.5	+	12	1544	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	TCHP_ENST00000405876.4_Missense_Mutation_p.R444C	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GGTTGCAGAGCGCCGGCTGCA	0.652																																																	0													53.0	55.0	54.0					12																	110353217		2203	4300	6503	SO:0001583	missense	0			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1330C>T	12.37:g.110353217C>T	ENSP00000324404:p.Arg444Cys			Missense_Mutation	SNP	NULL	p.R444C	ENST00000312777.5	37	c.1330	CCDS9137.1	12	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710018	0.68730	.	.	ENSG00000139437	ENST00000405876;ENST00000312777;ENST00000551627	T;T	0.11712	2.75;2.75	5.84	5.84	0.93424	.	0.423540	0.24424	N	0.038645	T	0.34221	0.0890	M	0.76002	2.32	0.58432	D	0.999995	D	0.89917	1.0	D	0.81914	0.995	T	0.01424	-1.1358	10	0.72032	D	0.01	-9.9071	15.6382	0.76973	0.0:1.0:0.0:0.0	.	444	Q9BT92	TCHP_HUMAN	C	444;444;88	ENSP00000384520:R444C;ENSP00000324404:R444C	ENSP00000324404:R444C	R	+	1	0	TCHP	108837600	0.999000	0.42202	1.000000	0.80357	0.345000	0.29048	2.543000	0.45752	2.763000	0.94921	0.650000	0.86243	CGC	TCHP	-	NULL	ENSG00000139437		0.652	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TCHP	HGNC	protein_coding	OTTHUMT00000403289.1	-	0.00	34	0	C	NM_032300		110353217	+1	tier1	-	no_errors	ENST00000312777	ensembl	human	known	74_37	missense	52.17	22	24	SNP	1.000	T
TCN2	6948	genome.wustl.edu	37	22	31011717	31011717	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:31011717G>A	ENST00000215838.3	+	6	1377	c.883G>A	c.(883-885)Gtt>Att	p.V295I	TCN2_ENST00000407817.3_Missense_Mutation_p.V268I|TCN2_ENST00000405742.3_Missense_Mutation_p.V291I			P20062	TCO2_HUMAN	transcobalamin II	295					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTGCTGCCCGTTCTGAACCA	0.522																																																	0													173.0	144.0	154.0					22																	31011717		2203	4300	6503	SO:0001583	missense	0				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.883G>A	22.37:g.31011717G>A	ENSP00000215838:p.Val295Ile		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.V295I	ENST00000215838.3	37	c.883	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330459	0.24167	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.36157	1.27;1.27;1.27	6.06	2.79	0.32731	.	0.331913	0.35585	N	0.003103	T	0.30324	0.0761	L	0.50333	1.59	0.09310	N	0.999997	B;B;B	0.28470	0.213;0.027;0.027	B;B;B	0.26693	0.072;0.051;0.051	T	0.16778	-1.0391	10	0.44086	T	0.13	-12.0008	9.8176	0.40862	0.2205:0.0:0.7795:0.0	.	268;291;295	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	I	295;291;268	ENSP00000215838:V295I;ENSP00000385914:V291I;ENSP00000384914:V268I	ENSP00000215838:V295I	V	+	1	0	TCN2	29341717	0.005000	0.15991	0.004000	0.12327	0.422000	0.31414	0.872000	0.28037	0.433000	0.26313	0.655000	0.94253	GTT	TCN2	-	pfam_Cbl-bd_transpt_euk	ENSG00000185339		0.522	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2	-	0.00	28	0	G	NM_000355		31011717	+1	tier1	-	no_errors	ENST00000215838	ensembl	human	known	74_37	missense	33.93	37	19	SNP	0.042	A
TDRD1	56165	genome.wustl.edu	37	10	115986880	115986880	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:115986880delA	ENST00000251864.2	+	23	3378	c.3225delA	c.(3223-3225)ttafs	p.L1075fs	TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000369281.2_Frame_Shift_Del_p.L961fs|TDRD1_ENST00000369282.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1075					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.L1075F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TAATGCTATTAAAAAATTTCA	0.299																																																	1	Substitution - Missense(1)	large_intestine(1)											31.0	32.0	32.0					10																	115986880		2203	4299	6502	SO:0001589	frameshift_variant	0			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000251864.2:c.3225delA	10.37:g.115986880delA	ENSP00000251864:p.Leu1075fs		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Frame_Shift_Del	DEL	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.N1077fs	ENST00000251864.2	37	c.3225	CCDS7588.1	10																																																																																			TDRD1	-	NULL	ENSG00000095627		0.299	TDRD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD1	HGNC	protein_coding			0.00	48	0	A			115986880	+1	tier1		no_errors	ENST00000251864	ensembl	human	known	74_37	frame_shift_del	31.25	44	20	DEL	0.327	-
TDRD3	81550	genome.wustl.edu	37	13	61109341	61109341	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:61109341A>G	ENST00000196169.3	+	12	2601	c.1813A>G	c.(1813-1815)Atc>Gtc	p.I605V	TDRD3_ENST00000377894.2_Missense_Mutation_p.I605V|TDRD3_ENST00000377881.2_Missense_Mutation_p.I605V|TDRD3_ENST00000535286.1_Missense_Mutation_p.I698V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	605	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ACTGAGCAATATCAAGCCCAT	0.388																																					Colon(36;164 906 35820 50723)												0													106.0	97.0	100.0					13																	61109341		2203	4300	6503	SO:0001583	missense	0			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1813A>G	13.37:g.61109341A>G	ENSP00000196169:p.Ile605Val		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.I698V	ENST00000196169.3	37	c.2092	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	A	19.76	3.888377	0.72524	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	6.07	6.07	0.98685	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.093921	0.64402	D	0.000001	T	0.18215	0.0437	L	0.43923	1.385	0.58432	D	0.999993	P;P;P	0.43231	0.798;0.587;0.801	B;B;P	0.48770	0.439;0.151;0.589	T	0.00204	-1.1923	10	0.62326	D	0.03	-9.4882	15.2061	0.73180	1.0:0.0:0.0:0.0	.	698;604;605	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	V	605;605;605;698	ENSP00000196169:I605V;ENSP00000367113:I605V;ENSP00000367126:I605V;ENSP00000440190:I698V	ENSP00000196169:I605V	I	+	1	0	TDRD3	60007342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.104000	0.64584	2.330000	0.79161	0.477000	0.44152	ATC	TDRD3	-	pfam_Tudor,pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor	ENSG00000083544		0.388	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2	-	0.00	41	0	A	NM_030794		61109341	+1	tier1	-	no_errors	ENST00000535286	ensembl	human	known	74_37	missense	47.54	32	29	SNP	1.000	G
TDRD5	163589	genome.wustl.edu	37	1	179638527	179638527	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:179638527C>T	ENST00000367614.1	+	16	3045	c.2686C>T	c.(2686-2688)Ccc>Tcc	p.P896S	TDRD5_ENST00000444136.1_Missense_Mutation_p.P950S|TDRD5_ENST00000294848.8_Missense_Mutation_p.P896S	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	896					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CGCAGAAAAGCCCTCTGGTTC	0.458																																																	0													137.0	116.0	123.0					1																	179638527		2203	4300	6503	SO:0001583	missense	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2686C>T	1.37:g.179638527C>T	ENSP00000356586:p.Pro896Ser		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.P950S	ENST00000367614.1	37	c.2848	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	C	4.777	0.144563	0.09134	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.28069	2.86;2.86;3.03;1.63	5.38	1.35	0.21983	.	0.710006	0.12530	N	0.460852	T	0.14184	0.0343	N	0.08118	0	0.09310	N	1	B;B	0.23990	0.095;0.057	B;B	0.21917	0.037;0.01	T	0.21314	-1.0249	10	0.54805	T	0.06	-6.941	4.8082	0.13329	0.0:0.5814:0.1562:0.2624	.	950;896	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	S	896;896;950;406	ENSP00000356586:P896S;ENSP00000294848:P896S;ENSP00000406052:P950S;ENSP00000410744:P406S	ENSP00000294848:P896S	P	+	1	0	TDRD5	177905150	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.374000	0.20501	-0.001000	0.14495	-0.142000	0.14014	CCC	TDRD5	-	NULL	ENSG00000162782		0.458	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	-	0.00	106	0	C	NM_173533		179638527	+1	tier1	-	no_errors	ENST00000444136	ensembl	human	known	74_37	missense	38.71	57	36	SNP	0.000	T
TDRD6	221400	genome.wustl.edu	37	6	46656650	46656650	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:46656650C>A	ENST00000316081.6	+	1	785	c.785C>A	c.(784-786)cCc>cAc	p.P262H	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.P262H	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	262					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTGTGCCATCCCCACCGCATT	0.627																																																	0													31.0	26.0	27.0					6																	46656650		2203	4299	6502	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.785C>A	6.37:g.46656650C>A	ENSP00000346065:p.Pro262His		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.P262H	ENST00000316081.6	37	c.785	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272207	0.80469	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.12672	2.66;2.66	6.07	6.07	0.98685	Maternal tudor protein (1);	0.101773	0.64402	D	0.000002	T	0.31071	0.0785	M	0.64567	1.98	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00797	-1.1562	10	0.66056	D	0.02	-12.7243	20.2543	0.98414	0.0:1.0:0.0:0.0	.	262;262	F5H5M3;O60522	.;TDRD6_HUMAN	H	262	ENSP00000443299:P262H;ENSP00000346065:P262H	ENSP00000346065:P262H	P	+	2	0	TDRD6	46764609	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.304000	0.78882	2.884000	0.98904	0.655000	0.94253	CCC	TDRD6	-	pfam_Tudor	ENSG00000180113		0.627	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	-	0.00	67	0	C	XM_166443		46656650	+1	tier1	-	no_errors	ENST00000316081	ensembl	human	known	74_37	missense	30.16	44	19	SNP	1.000	A
TECPR1	25851	genome.wustl.edu	37	7	97860399	97860399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:97860399delC	ENST00000447648.2	-	15	2455	c.2156delG	c.(2155-2157)agcfs	p.S719fs	TECPR1_ENST00000542604.1_Frame_Shift_Del_p.S649fs|TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000379795.3_Frame_Shift_Del_p.S720fs			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	719					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACCTTCCGGCTCTCGCAGCA	0.682																																																	0													19.0	26.0	23.0					7																	97860399		2124	4206	6330	SO:0001589	frameshift_variant	0				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2156delG	7.37:g.97860399delC	ENSP00000404923:p.Ser719fs		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Frame_Shift_Del	DEL	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.S720fs	ENST00000447648.2	37	c.2159	CCDS47648.1	7																																																																																			TECPR1	-	smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.682	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1		0.00	50	0	C	NM_015395		97860399	-1	tier1		no_errors	ENST00000379795	ensembl	human	known	74_37	frame_shift_del	44.30	44	35	DEL	1.000	-
TELO2	9894	genome.wustl.edu	37	16	1550422	1550422	+	Silent	SNP	C	C	T	rs375335497		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:1550422C>T	ENST00000262319.6	+	8	1356	c.1077C>T	c.(1075-1077)caC>caT	p.H359H		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	359					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGCAGCGCCACGTCAGCAAGG	0.687																																																	0										1,4373		0,1,2186	18.0	19.0	19.0		1077	-2.4	0.0	16		19	0,8580		0,0,4290	no	coding-synonymous	TELO2	NM_016111.3		0,1,6476	TT,TC,CC		0.0,0.0229,0.0077		359/838	1550422	1,12953	2187	4290	6477	SO:0001819	synonymous_variant	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1077C>T	16.37:g.1550422C>T			D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.H359	ENST00000262319.6	37	c.1077	CCDS32363.1	16																																																																																			TELO2	-	NULL	ENSG00000100726		0.687	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	-	0.00	22	0	C	NM_016111		1550422	+1	tier1	-	no_errors	ENST00000262319	ensembl	human	known	74_37	silent	22.22	28	8	SNP	0.042	T
TENM2	57451	genome.wustl.edu	37	5	167674984	167674984	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:167674984A>G	ENST00000518659.1	+	27	7079	c.7040A>G	c.(7039-7041)tAc>tGc	p.Y2347C	TENM2_ENST00000403607.2_Missense_Mutation_p.Y2171C|TENM2_ENST00000545108.1_Missense_Mutation_p.Y2346C|TENM2_ENST00000520394.1_Missense_Mutation_p.Y2108C|TENM2_ENST00000519204.1_Missense_Mutation_p.Y2226C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2347					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACCTCACTGTACTACGACCTC	0.552																																																	0													110.0	114.0	113.0					5																	167674984		2067	4224	6291	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7040A>G	5.37:g.167674984A>G	ENSP00000429430:p.Tyr2347Cys		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.Y2347C	ENST00000518659.1	37	c.7040		5	.	.	.	.	.	.	.	.	.	.	a	17.70	3.454049	0.63290	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90197	-2.15;-2.14;-2.26;-2.61;-2.63	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.95620	0.8576	M	0.85710	2.77	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	D	0.96211	0.9153	10	0.72032	D	0.01	.	15.4838	0.75548	1.0:0.0:0.0:0.0	.	2346;2347;2108	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	2347;2346;2226;2108;2171	ENSP00000429430:Y2347C;ENSP00000438635:Y2346C;ENSP00000428964:Y2226C;ENSP00000427874:Y2108C;ENSP00000384905:Y2171C	ENSP00000384905:Y2171C	Y	+	2	0	ODZ2	167607562	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.336000	0.96533	2.064000	0.61679	0.454000	0.30748	TAC	TENM2	-	NULL	ENSG00000145934		0.552	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	-	0.00	34	0	A	NM_001122679		167674984	+1	tier1	-	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	83.33	5	25	SNP	1.000	G
TEP1	7011	genome.wustl.edu	37	14	20845785	20845785	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:20845785C>A	ENST00000262715.5	-	40	5889	c.5849G>T	c.(5848-5850)gGc>gTc	p.G1950V	TEP1_ENST00000556935.1_Missense_Mutation_p.G1842V|TEP1_ENST00000545983.1_Missense_Mutation_p.G288V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1950					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.G1950D(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GATCCTAATGCCATCCGCTCG	0.567																																																	1	Substitution - Missense(1)	endometrium(1)											128.0	137.0	134.0					14																	20845785		2203	4300	6503	SO:0001583	missense	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5849G>T	14.37:g.20845785C>A	ENSP00000262715:p.Gly1950Val		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1950V	ENST00000262715.5	37	c.5849	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756272	0.49362	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.80393	0.79;-0.41;-1.37	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.119040	0.56097	D	0.000024	T	0.81413	0.4817	L	0.28649	0.875	0.80722	D	1	D;D;D;D	0.89917	0.988;1.0;1.0;1.0	P;D;D;D	0.97110	0.779;0.995;1.0;0.988	T	0.77099	-0.2713	10	0.21540	T	0.41	-19.5671	10.0999	0.42497	0.0:0.9086:0.0:0.0914	.	288;1842;1293;1950	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	V	1950;1950;1842;288	ENSP00000262715:G1950V;ENSP00000452574:G1842V;ENSP00000438849:G288V	ENSP00000262715:G1950V	G	-	2	0	TEP1	19915625	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.569000	0.45973	2.502000	0.84385	0.563000	0.77884	GGC	TEP1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000129566		0.567	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	-	0.00	24	0	C	NM_007110		20845785	-1	tier1	-	no_errors	ENST00000262715	ensembl	human	known	74_37	missense	51.22	20	21	SNP	1.000	A
TET3	200424	genome.wustl.edu	37	2	74326650	74326652	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:74326650_74326652delAGA	ENST00000409262.3	+	8	3110_3112	c.3110_3112delAGA	c.(3109-3114)gagaag>gag	p.K1040del		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1040					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCAGCCGAGAAGAAGAAGAT	0.645																																																	0																																										SO:0001651	inframe_deletion	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3110_3112delAGA	2.37:g.74326659_74326661delAGA	ENSP00000386869:p.Lys1040del		A6NEI3|Q86Z24|Q8TBM9	In_Frame_Del	DEL	NULL	p.K1040in_frame_del	ENST00000409262.3	37	c.3110_3112	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.645	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4		0.00	26	0	AGA			74326652	+1	tier1		no_errors	ENST00000409262	ensembl	human	known	74_37	in_frame_del	40.32	37	25	DEL	1.000:1.000:1.000	-
TET3	200424	genome.wustl.edu	37	2	74328621	74328621	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:74328621C>T	ENST00000409262.3	+	9	4301	c.4301C>T	c.(4300-4302)gCc>gTc	p.A1434V		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1434					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGATTCCAGCCGCAGGGGCC	0.617																																																	0													14.0	16.0	15.0					2																	74328621		1897	4122	6019	SO:0001583	missense	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4301C>T	2.37:g.74328621C>T	ENSP00000386869:p.Ala1434Val		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.A1434V	ENST00000409262.3	37	c.4301	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542605	0.45280	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.12361	2.69	4.84	4.84	0.62591	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.385322	0.28476	N	0.015218	T	0.09905	0.0243	N	0.08118	0	0.30247	N	0.794475	B	0.15141	0.012	B	0.24701	0.055	T	0.11518	-1.0584	10	0.72032	D	0.01	.	16.8655	0.86028	0.0:1.0:0.0:0.0	.	1434	O43151	TET3_HUMAN	V	1434	ENSP00000386869:A1434V	ENSP00000233310:A1434V	A	+	2	0	TET3	74182129	0.994000	0.37717	0.753000	0.31225	0.872000	0.50106	4.128000	0.57951	2.521000	0.84997	0.591000	0.81541	GCC	TET3	-	NULL	ENSG00000187605		0.617	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	-	0.00	47	0	C			74328621	+1	tier1	-	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	18.81	82	19	SNP	1.000	T
TFAP2A	7020	genome.wustl.edu	37	6	10407037	10407038	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:10407037_10407038delAC	ENST00000482890.1	-	4	872_873	c.520_521delGT	c.(520-522)gtafs	p.V174fs	TFAP2A_ENST00000319516.4_Frame_Shift_Del_p.V170fs|TFAP2A_ENST00000379613.3_Frame_Shift_Del_p.V176fs|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000379608.3_Frame_Shift_Del_p.V168fs|TFAP2A_ENST00000379604.2_Frame_Shift_Del_p.V174fs|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	174					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|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 (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TTTCTTAATTACAGTTTGATCT	0.361																																																	0																																										SO:0001589	frameshift_variant	0			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.520_521delGT	6.37:g.10407037_10407038delAC	ENSP00000418541:p.Val174fs		Q13777|Q5TAV5|Q8N1C6	Frame_Shift_Del	DEL	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.V174fs	ENST00000482890.1	37	c.521_520	CCDS4510.1	6																																																																																			TFAP2A	-	NULL	ENSG00000137203		0.361	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2		0.00	45	0	AC	NM_003220		10407038	-1	tier1		no_errors	ENST00000379604	ensembl	human	known	74_37	frame_shift_del	27.27	32	12	DEL	1.000:1.000	-
TFG	10342	genome.wustl.edu	37	3	100463493	100463493	+	Intron	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:100463493G>C	ENST00000240851.4	+	7	1061				TFG_ENST00000490574.1_Intron|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000418917.2_Intron|TFG_ENST00000476228.1_Intron	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene						cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						ATCCACAGCAGAGGAATCACA	0.353			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	0																																										SO:0001627	intron_variant	0			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.722-184G>C	3.37:g.100463493G>C			D3DN49|G5E9V1|Q15656|Q969I2	RNA	SNP	-	NULL	ENST00000240851.4	37	NULL	CCDS2939.1	3																																																																																			TFG	-	-	ENSG00000114354		0.353	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFG	HGNC	protein_coding	OTTHUMT00000353242.1	-	0.00	31	0	G	NM_006070		100463493	+1	tier1	-	no_errors	ENST00000481203	ensembl	human	known	74_37	rna	40.00	24	16	SNP	0.965	C
TGFBR2	7048	genome.wustl.edu	37	3	30691872	30691872	+	Frame_Shift_Del	DEL	A	A	-	rs79375991		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:30691872delA	ENST00000295754.5	+	3	756	c.374delA	c.(373-375)gaafs	p.E125fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.E150fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATTATGAAGGAAAAAAAAAAG	0.423																																																	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)											89.0	92.0	91.0					3																	30691872		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.374delA	3.37:g.30691872delA	ENSP00000295754:p.Glu125fs		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Del	DEL	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.K153fs	ENST00000295754.5	37	c.449	CCDS2648.1	3																																																																																			TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor	ENSG00000163513		0.423	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2		0.00	38	0	A			30691872	+1	tier1		no_errors	ENST00000359013	ensembl	human	known	74_37	frame_shift_del	58.54	17	24	DEL	1.000	-
TFRC	7037	genome.wustl.edu	37	3	195778941	195778941	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:195778941G>A	ENST00000360110.4	-	19	2324	c.2155C>T	c.(2155-2157)Cgt>Tgt	p.R719C	TFRC_ENST00000535031.1_Missense_Mutation_p.R437C|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.R719C|TFRC_ENST00000420415.1_Missense_Mutation_p.R638C	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	719	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TTTTGTTTACGCAGTTTCAAG	0.488			T	BCL6	NHL																																			Dom	yes		3	3q29	7037	"""transferrin receptor (p90, CD71)"""		L	0													82.0	79.0	80.0					3																	195778941		2203	4300	6503	SO:0001583	missense	0			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.2155C>T	3.37:g.195778941G>A	ENSP00000353224:p.Arg719Cys		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.R719C	ENST00000360110.4	37	c.2155	CCDS3312.1	3	.	.	.	.	.	.	.	.	.	.	G	9.220	1.033132	0.19590	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.91	4.86	0.63082	Transferrin receptor-like, dimerisation domain (3);	0.333400	0.33040	N	0.005360	T	0.67924	0.2945	M	0.68317	2.08	0.20196	N	0.999929	D	0.89917	1.0	D	0.70935	0.971	T	0.59402	-0.7461	10	0.39692	T	0.17	-11.8004	13.7995	0.63190	0.1231:0.0:0.8769:0.0	.	719	P02786	TFR1_HUMAN	C	719;638;719;437	ENSP00000353224:R719C;ENSP00000390133:R638C;ENSP00000376197:R719C;ENSP00000437753:R437C	ENSP00000353224:R719C	R	-	1	0	TFRC	197263338	0.968000	0.33430	0.928000	0.36995	0.027000	0.11550	2.839000	0.48207	2.802000	0.96397	0.655000	0.94253	CGT	TFRC	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom	ENSG00000072274		0.488	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFRC	HGNC	protein_coding	OTTHUMT00000341346.1	-	0.00	34	0	G			195778941	-1	tier1	-	no_errors	ENST00000360110	ensembl	human	known	74_37	missense	13.41	71	11	SNP	0.007	A
DNAJC11	55735	genome.wustl.edu	37	1	6694120	6694120	+	IGR	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:6694120G>A	ENST00000377577.5	-	0	3311				DNAJC11_ENST00000465508.1_5'Flank|THAP3_ENST00000377627.3_Missense_Mutation_p.R167H	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11							extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCTTCACGTGAAGCCTTG	0.463																																																	0													81.0	82.0	82.0					1																	6694120		2203	4300	6503	SO:0001628	intergenic_variant	0			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443		1.37:g.6694120G>A			Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.R167H	ENST00000377577.5	37	c.500	CCDS87.1	1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566936	0.28003	.	.	ENSG00000041988	ENST00000377627	D	0.97114	-4.25	2.63	-5.26	0.02772	.	.	.	.	.	D	0.91482	0.7311	.	.	.	0.09310	N	1	B	0.28026	0.198	B	0.26517	0.07	T	0.82920	-0.0218	8	0.66056	D	0.02	.	1.4161	0.02302	0.1235:0.3192:0.2366:0.3207	.	167	Q8WTV1-4	.	H	167	ENSP00000366854:R167H	ENSP00000366854:R167H	R	+	2	0	THAP3	6616707	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.637000	0.05459	-0.824000	0.04295	0.462000	0.41574	CGT	THAP3	-	NULL	ENSG00000041988		0.463	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP3	HGNC	protein_coding	OTTHUMT00000004216.3		0.00	28	0	G	NM_018198		6694120	+1			no_errors	ENST00000377627	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.000	A
TIA1	7072	genome.wustl.edu	37	2	70442603	70442603	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:70442603G>A	ENST00000433529.2	-	11	998	c.788C>T	c.(787-789)gCa>gTa	p.A263V	C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000282574.4_Missense_Mutation_p.A263V|TIA1_ENST00000415783.2_Missense_Mutation_p.A252V|TIA1_ENST00000445587.1_Intron|TIA1_ENST00000482876.1_5'UTR	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	263	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						AATTGCATGTGCTGCACTTTC	0.308																																																	0													79.0	72.0	74.0					2																	70442603		2203	4300	6503	SO:0001583	missense	0				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.788C>T	2.37:g.70442603G>A	ENSP00000401371:p.Ala263Val		Q53SS9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.A263V	ENST00000433529.2	37	c.788	CCDS1901.1	2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816912	0.90790	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000454815	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.77	5.77	0.91146	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	L	0.58925	1.835	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.963	T	0.06006	-1.0851	10	0.72032	D	0.01	-17.8909	18.9257	0.92544	0.0:0.0:1.0:0.0	.	252;263	P31483-2;P31483	.;TIA1_HUMAN	V	263;252;341;263;34	ENSP00000401371:A263V;ENSP00000404023:A252V;ENSP00000282574:A263V;ENSP00000402263:A34V	ENSP00000282574:A263V	A	-	2	0	TIA1	70296107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	GCA	TIA1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000116001		0.308	TIA1-001	KNOWN	basic|CCDS	protein_coding	TIA1	HGNC	protein_coding	OTTHUMT00000251842.2	-	0.00	46	0	G	NM_022037		70442603	-1	tier1	-	no_errors	ENST00000433529	ensembl	human	known	74_37	missense	40.74	32	22	SNP	1.000	A
TLL2	7093	genome.wustl.edu	37	10	98170377	98170377	+	Intron	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:98170377A>G	ENST00000357947.3	-	9	1274				TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2						cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAGCAGATTGATGTTTTCTGG	0.542																																																	0																																										SO:0001627	intron_variant	0			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1049-146T>C	10.37:g.98170377A>G			A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	RNA	SNP	-	NULL	ENST00000357947.3	37	NULL	CCDS7449.1	10																																																																																			TLL2	-	-	ENSG00000095587		0.542	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	-	0.00	29	0	A			98170377	-1	tier1	-	no_errors	ENST00000469598	ensembl	human	known	74_37	rna	31.25	44	20	SNP	0.000	G
TMC8	147138	genome.wustl.edu	37	17	76127679	76127679	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:76127679C>T	ENST00000318430.5	+	2	384	c.10C>T	c.(10-12)Ccg>Tcg	p.P4S	TMC6_ENST00000322914.3_Intron|TMC6_ENST00000322933.4_5'Flank|TMC8_ENST00000589691.1_Intron|TMC6_ENST00000589553.1_5'Flank|TMC6_ENST00000590602.1_5'Flank|TMC6_ENST00000306591.7_5'Flank	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	4					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GATGCTGCTGCCGCGGTCGGT	0.721																																																	0													4.0	5.0	5.0					17																	76127679		1912	3796	5708	SO:0001583	missense	0			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.10C>T	17.37:g.76127679C>T	ENSP00000325561:p.Pro4Ser		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.P4S	ENST00000318430.5	37	c.10	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739170	0.49045	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.74209	-0.82	2.57	2.57	0.30868	.	.	.	.	.	T	0.48768	0.1518	N	0.08118	0	0.45330	D	0.998321	B;B	0.26195	0.144;0.006	B;B	0.18263	0.021;0.005	T	0.41233	-0.9520	9	0.18276	T	0.48	-8.0361	8.7522	0.34622	0.0:1.0:0.0:0.0	.	4;4	B4E0S0;Q8IU68	.;TMC8_HUMAN	S	4	ENSP00000325561:P4S	ENSP00000301627:P4S	P	+	1	0	TMC8	73639274	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	0.983000	0.29552	1.743000	0.51761	0.462000	0.41574	CCG	TMC8	-	NULL	ENSG00000167895		0.721	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	-	0.00	11	0	C			76127679	+1	tier1	-	no_errors	ENST00000318430	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.007	T
TMCO3	55002	genome.wustl.edu	37	13	114204129	114204130	+	3'UTR	DEL	TT	TT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:114204129_114204130delTT	ENST00000434316.2	+	0	2669_2670				TMCO3_ENST00000375391.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3							integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TGGATGTGCCTTTTTTTTTTTT	0.337																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.*277TT>-	13.37:g.114204139_114204140delTT			Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	RNA	DEL	-	NULL	ENST00000434316.2	37	NULL	CCDS9537.1	13																																																																																			TMCO3	-	-	ENSG00000150403		0.337	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	HGNC	protein_coding	OTTHUMT00000045931.3		0.00	71	0	TT	NM_017905		114204130	+1	tier1		no_errors	ENST00000460039	ensembl	human	known	74_37	rna	29.22	109	45	DEL	1.000:1.000	-
TMEM117	84216	genome.wustl.edu	37	12	44783452	44783452	+	3'UTR	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:44783452T>C	ENST00000266534.3	+	0	2669				TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ATGAAAGAATTTGTTTAATGT	0.333																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.*997T>C	12.37:g.44783452T>C				RNA	SNP	-	NULL	ENST00000266534.3	37	NULL	CCDS8745.1	12																																																																																			TMEM117	-	-	ENSG00000139173		0.333	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	-	0.00	22	0	T	NM_032256		44783452	+1	tier1	-	no_errors	ENST00000546978	ensembl	human	known	74_37	rna	60.00	10	15	SNP	0.001	C
TMEM132B	114795	genome.wustl.edu	37	12	126138243	126138243	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:126138243G>A	ENST00000299308.3	+	9	2232	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E254K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	742						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCAAACCTTGAGTCCAAATG	0.428																																																	0													140.0	136.0	137.0					12																	126138243		1934	4136	6070	SO:0001583	missense	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2224G>A	12.37:g.126138243G>A	ENSP00000299308:p.Glu742Lys		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.E742K	ENST00000299308.3	37	c.2224	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	G	3.907	-0.020922	0.07634	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.14391	2.51;2.51	5.81	4.92	0.64577	.	0.186025	0.38381	N	0.001708	T	0.06280	0.0162	N	0.02539	-0.55	0.29759	N	0.835674	B	0.19200	0.034	B	0.21708	0.036	T	0.18999	-1.0319	10	0.12430	T	0.62	.	15.5855	0.76479	0.0:0.6763:0.3237:0.0	.	742	Q14DG7	T132B_HUMAN	K	742;254	ENSP00000299308:E742K;ENSP00000440436:E254K	ENSP00000299308:E742K	E	+	1	0	TMEM132B	124704196	0.984000	0.35163	0.996000	0.52242	0.848000	0.48234	2.245000	0.43133	1.428000	0.47296	0.655000	0.94253	GAG	TMEM132B	-	NULL	ENSG00000139364		0.428	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	-	0.00	69	0	G	NM_052907		126138243	+1	tier1	-	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	30.30	46	20	SNP	0.992	A
TMEM132C	92293	genome.wustl.edu	37	12	128899918	128899918	+	Missense_Mutation	SNP	G	G	A	rs544445512		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:128899918G>A	ENST00000435159.2	+	2	727	c.727G>A	c.(727-729)Ggg>Agg	p.G243R		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	243						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GGACTGTGCCGGGGGTGACTT	0.647																																																	0													65.0	75.0	72.0					12																	128899918		692	1591	2283	SO:0001583	missense	0			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.727G>A	12.37:g.128899918G>A	ENSP00000410852:p.Gly243Arg		Q69YX8	Missense_Mutation	SNP	NULL	p.G243R	ENST00000435159.2	37	c.727		12	.	.	.	.	.	.	.	.	.	.	G	8.088	0.773874	0.16051	.	.	ENSG00000181234	ENST00000435159	T	0.11930	2.73	5.09	0.383	0.16239	.	.	.	.	.	T	0.08403	0.0209	L	0.36672	1.1	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.41787	-0.9489	9	0.16420	T	0.52	.	3.0343	0.06117	0.2289:0.1284:0.5121:0.1306	.	243	Q8N3T6	T132C_HUMAN	R	243	ENSP00000410852:G243R	ENSP00000410852:G243R	G	+	1	0	TMEM132C	127465871	0.001000	0.12720	0.000000	0.03702	0.915000	0.54546	0.685000	0.25378	0.222000	0.20900	0.655000	0.94253	GGG	TMEM132C	-	NULL	ENSG00000181234		0.647	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		-	0.00	23	0	G	XM_044062		128899918	+1	tier1	-	no_errors	ENST00000435159	ensembl	human	known	74_37	missense	49.12	29	28	SNP	0.000	A
TMEM173	340061	genome.wustl.edu	37	5	138858042	138858042	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:138858042C>T	ENST00000330794.4	-	6	905	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	TMEM173_ENST00000511850.1_5'Flank	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	191	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)	p.R191L(1)		endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CACTGCACCCCGTAGCAGGTT	0.527																																																	1	Substitution - Missense(1)	lung(1)											164.0	161.0	162.0					5																	138858042		2203	4300	6503	SO:0001583	missense	0				CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.572G>A	5.37:g.138858042C>T	ENSP00000331288:p.Arg191Gln		A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	NULL	p.R191Q	ENST00000330794.4	37	c.572	CCDS4215.1	5	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090316	0.20471	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	T;T	0.21543	2.0;2.0	5.49	-7.32	0.01436	.	2.255270	0.01781	N	0.031728	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B	0.21753	0.06	B	0.08055	0.003	T	0.19128	-1.0315	10	0.15066	T	0.55	5.0564	8.5251	0.33300	0.0:0.2363:0.2111:0.5526	.	191	Q86WV6	TM173_HUMAN	Q	191	ENSP00000331288:R191Q;ENSP00000427455:R191Q	ENSP00000331288:R191Q	R	-	2	0	TMEM173	138838226	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.353000	0.01090	-1.803000	0.01242	-0.258000	0.10820	CGG	TMEM173	-	NULL	ENSG00000184584		0.527	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM173	HGNC	protein_coding	OTTHUMT00000251338.1	-	0.00	49	0	C	NM_198282		138858042	-1	tier1	-	no_errors	ENST00000330794	ensembl	human	known	74_37	missense	43.42	43	33	SNP	0.000	T
TMEM245	23731	genome.wustl.edu	37	9	111849505	111849505	+	Missense_Mutation	SNP	G	G	A	rs565558586		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:111849505G>A	ENST00000374586.3	-	6	1299	c.1268C>T	c.(1267-1269)gCg>gTg	p.A423V		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	423						integral component of membrane (GO:0016021)											GGGCCAAGGCGCGAGAGCTCC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		13665	0.0		0.0	False		,,,				2504	0.001																0													88.0	87.0	87.0					9																	111849505		1834	4090	5924	SO:0001583	missense	0			AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1268C>T	9.37:g.111849505G>A	ENSP00000363714:p.Ala423Val		B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	pfam_UPF0118	p.A423V	ENST00000374586.3	37	c.1268	CCDS43858.1	9	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811837	0.32053	.	.	ENSG00000106771	ENST00000374587;ENST00000374586;ENST00000223608	T	0.21932	1.98	5.83	5.83	0.93111	.	0.118144	0.64402	D	0.000012	T	0.32585	0.0834	N	0.24115	0.695	0.45272	D	0.998277	D;P	0.89917	1.0;0.822	D;B	0.80764	0.994;0.084	T	0.03433	-1.1037	10	0.12103	T	0.63	-12.8827	20.1271	0.97986	0.0:0.0:1.0:0.0	.	423;423	Q9H330-2;Q9H330	.;CI005_HUMAN	V	423	ENSP00000363714:A423V	ENSP00000223608:A423V	A	-	2	0	C9orf5	110889326	1.000000	0.71417	0.600000	0.28864	0.772000	0.43724	5.671000	0.68095	2.758000	0.94735	0.563000	0.77884	GCG	TMEM245	-	NULL	ENSG00000106771		0.438	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM245	HGNC	protein_coding	OTTHUMT00000053587.2	-	0.00	32	0	G	NM_032012		111849505	-1	tier1	-	no_errors	ENST00000374586	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	A
TMEM55B	90809	genome.wustl.edu	37	14	20926824	20926824	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:20926824A>C	ENST00000250489.4	-	7	1014	c.728T>G	c.(727-729)aTc>aGc	p.I243S	TMEM55B_ENST00000398020.4_Missense_Mutation_p.I250S|TMEM55B_ENST00000554028.1_Missense_Mutation_p.I76S			Q86T03	TM55B_HUMAN	transmembrane protein 55B	243						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GGCTGCATAGATGCCTCCATA	0.512																																																	0													92.0	78.0	83.0					14																	20926824		2203	4300	6503	SO:0001583	missense	0			BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.728T>G	14.37:g.20926824A>C	ENSP00000250489:p.Ile243Ser		B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.I250S	ENST00000250489.4	37	c.749	CCDS9551.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.3|21.3	4.121326|4.121326	0.77436|0.77436	.|.	.|.	ENSG00000165782|ENSG00000165782	ENST00000553460|ENST00000250489;ENST00000398020;ENST00000554028	.|T	.|0.68903	.|-0.36	5.0|5.0	3.85|3.85	0.44370|0.44370	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70011|0.70011	0.3175|0.3175	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P	.|0.52170	.|0.951;0.939	.|P;P	.|0.49502	.|0.613;0.479	T|T	0.72394|0.72394	-0.4307|-0.4307	5|10	.|0.87932	.|D	.|0	-8.173|-8.173	9.7182|9.7182	0.40286|0.40286	0.9165:0.0:0.0835:0.0|0.9165:0.0:0.0835:0.0	.|.	.|243;250	.|Q86T03;Q86T03-2	.|TM55B_HUMAN;.	Q|S	82|243;250;76	.|ENSP00000451350:I76S	.|ENSP00000250489:I243S	H|I	-|-	3|2	2|0	TMEM55B|TMEM55B	19996664|19996664	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	5.045000|5.045000	0.64220|0.64220	0.929000|0.929000	0.37192|0.37192	0.460000|0.460000	0.39030|0.39030	CAT|ATC	TMEM55B	-	pfam_Transmembrane_protein_55A/B	ENSG00000165782		0.512	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM55B	HGNC	protein_coding	OTTHUMT00000073643.3	-	0.00	26	0	A	NM_144568		20926824	-1	tier1	-	no_errors	ENST00000398020	ensembl	human	known	74_37	missense	34.15	54	28	SNP	1.000	C
TMEM67	91147	genome.wustl.edu	37	8	94828722	94828723	+	3'UTR	INS	-	-	A	rs540908817		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:94828722_94828723insA	ENST00000453321.3	+	0	3088_3089				TMEM67_ENST00000409623.3_3'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TAATCATGGCCAAAAAAAAGTC	0.272																																																	0									,	10,4208		0,10,2099					,	0.4	0.6			26	11,8151		0,11,4070	no	utr-3,utr-3	TMEM67	NM_153704.5,NM_001142301.1	,	0,21,6169	A1A1,A1R,RR		0.1348,0.2371,0.1696	,	,		21,12359				SO:0001624	3_prime_UTR_variant	0			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.*43->A	8.37:g.94828730_94828730dupA			B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	RNA	INS	-	NULL	ENST00000453321.3	37	NULL	CCDS6258.2	8																																																																																			TMEM67	-	-	ENSG00000164953		0.272	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	HGNC	protein_coding	OTTHUMT00000329641.2		0.00	20	0	-	NM_153704		94828723	+1	tier1		no_errors	ENST00000463467	ensembl	human	putative	74_37	rna	14.29	60	10	INS	0.573:0.614	A
TMF1	7110	genome.wustl.edu	37	3	69072373	69072373	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:69072373C>T	ENST00000398559.2	-	17	3453	c.3237G>A	c.(3235-3237)atG>atA	p.M1079I	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000489370.1_5'Flank|TMF1_ENST00000543976.1_Missense_Mutation_p.M1082I|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1079					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GAGTTTTGTACATATTTTTTA	0.318																																																	0													128.0	112.0	117.0					3																	69072373		1812	4062	5874	SO:0001583	missense	0				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.3237G>A	3.37:g.69072373C>T	ENSP00000381567:p.Met1079Ile		B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.M1082I	ENST00000398559.2	37	c.3246	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778249	0.49786	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	D;D	0.82619	-1.63;-1.63	5.56	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.88573	0.6473	L	0.50993	1.605	0.58432	D	0.999999	D;D	0.67145	0.996;0.99	D;P	0.75484	0.986;0.867	D	0.88752	0.3251	10	0.48119	T	0.1	-14.894	16.869	0.86036	0.0:0.8716:0.1284:0.0	.	1082;1079	P82094-2;P82094	.;TMF1_HUMAN	I	1079;1082;995	ENSP00000381567:M1079I;ENSP00000438706:M1082I	ENSP00000348582:M995I	M	-	3	0	TMF1	69155063	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	7.776000	0.85560	1.479000	0.48272	-0.172000	0.13284	ATG	TMF1	-	pfam_TMF_TATA-bd	ENSG00000144747		0.318	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	-	0.00	53	0	C	NM_007114		69072373	-1	tier1	-	no_errors	ENST00000543976	ensembl	human	known	74_37	missense	50.00	15	15	SNP	1.000	T
TMPRSS5	80975	genome.wustl.edu	37	11	113560988	113560988	+	Missense_Mutation	SNP	C	C	T	rs201422387		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:113560988C>T	ENST00000299882.5	-	11	1319	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T	TMPRSS5_ENST00000544634.1_Missense_Mutation_p.A322T|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.A347T|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.A278T|TMPRSS5_ENST00000545265.1_5'UTR|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.A382T|TMPRSS5_ENST00000540540.1_Missense_Mutation_p.A132T|TMPRSS5_ENST00000536856.1_Missense_Mutation_p.A132T	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	391	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		AGGTAGCCAGCGCAAAGCATG	0.657																																																	0													19.0	23.0	21.0					11																	113560988		2061	4201	6262	SO:0001583	missense	0			AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.1171G>A	11.37:g.113560988C>T	ENSP00000299882:p.Ala391Thr			Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A391T	ENST00000299882.5	37	c.1171	CCDS44735.1	11	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310060	0.60414	.	.	ENSG00000166682	ENST00000536856;ENST00000540540;ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	4.21	4.21	0.49690	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000002	D	0.94938	0.8363	M	0.78916	2.43	0.40636	D	0.981903	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.95931	0.8938	10	0.87932	D	0	.	15.5165	0.75828	0.0:1.0:0.0:0.0	.	322;132;382;391	F5GYA3;G5EA47;F5GX83;Q9H3S3	.;.;.;TMPS5_HUMAN	T	132;132;391;382;347;322;278	ENSP00000437937:A132T;ENSP00000437761:A132T;ENSP00000299882:A391T;ENSP00000441104:A382T;ENSP00000445528:A347T;ENSP00000440783:A322T;ENSP00000445930:A278T	ENSP00000299882:A391T	A	-	1	0	TMPRSS5	113066198	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	5.659000	0.68010	2.189000	0.69895	0.305000	0.20034	GCT	TMPRSS5	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000166682		0.657	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS5	HGNC	protein_coding	OTTHUMT00000398652.1	-	0.00	14	0	C	NM_030770		113560988	-1	tier1	-	no_errors	ENST00000299882	ensembl	human	known	74_37	missense	66.67	7	14	SNP	1.000	T
TNFRSF14	8764	genome.wustl.edu	37	1	2493292	2493292	+	Intron	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:2493292A>G	ENST00000355716.4	+	6	993					NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14						cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		TCATGTCCCCAGCCGTCACCT	0.602			"""Mis, N, F"""		follicular lymphoma																																			Rec	yes		1	1p36.32	8764	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""		L	0													76.0	78.0	77.0					1																	2493292		2203	4300	6503	SO:0001627	intron_variant	0			U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11912	protein-coding gene	gene with protein product	"""herpesvirus entry mediator"""	602746	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.694+38A>G	1.37:g.2493292A>G			B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	RNA	SNP	-	NULL	ENST00000355716.4	37	NULL	CCDS44046.1	1																																																																																			TNFRSF14	-	-	ENSG00000157873		0.602	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF14	HGNC	protein_coding	OTTHUMT00000002088.1	-	0.00	42	0	A			2493292	+1	tier1	-	no_errors	ENST00000480305	ensembl	human	known	74_37	rna	23.44	49	15	SNP	0.000	G
TNKS1BP1	85456	genome.wustl.edu	37	11	57087989	57087989	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:57087989G>A	ENST00000532437.1	-	2	603	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P98S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	98	Arg/Glu/Lys/Pro-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)				GGTGCAAAGGGAAGGGGGCGC	0.642																																																	0													28.0	33.0	31.0					11																	57087989		2200	4296	6496	SO:0001583	missense	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.292C>T	11.37:g.57087989G>A	ENSP00000437271:p.Pro98Ser		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.P98S	ENST00000532437.1	37	c.292	CCDS7951.1	11	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787836	0.31593	.	.	ENSG00000149115	ENST00000358252;ENST00000532437;ENST00000527207	T;T	0.30182	1.54;1.54	4.68	2.72	0.32119	.	0.000000	0.35407	N	0.003239	T	0.14270	0.0345	N	0.19112	0.55	0.25161	N	0.990358	P	0.41041	0.736	B	0.38803	0.282	T	0.07829	-1.0752	10	0.30854	T	0.27	-14.7575	1.8575	0.03182	0.134:0.1954:0.469:0.2016	.	98	Q9C0C2	TB182_HUMAN	S	98	ENSP00000350990:P98S;ENSP00000437271:P98S	ENSP00000350990:P98S	P	-	1	0	TNKS1BP1	56844565	1.000000	0.71417	0.997000	0.53966	0.680000	0.39746	2.942000	0.49018	2.404000	0.81709	0.563000	0.77884	CCC	TNKS1BP1	-	NULL	ENSG00000149115		0.642	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	-	0.00	40	0	G	NM_033396		57087989	-1	tier1	-	no_errors	ENST00000358252	ensembl	human	known	74_37	missense	61.73	31	50	SNP	0.876	A
TNN	63923	genome.wustl.edu	37	1	175097224	175097224	+	Silent	SNP	C	C	T	rs528565931	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:175097224C>T	ENST00000239462.4	+	14	3215	c.3102C>T	c.(3100-3102)ggC>ggT	p.G1034G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1034	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTGAGCAAGGCGCCACCTACC	0.527													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20402	0.0		0.0	False		,,,				2504	0.0																0													120.0	99.0	106.0					1																	175097224		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3102C>T	1.37:g.175097224C>T			B9EGP3|Q5R360	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.G1034	ENST00000239462.4	37	c.3102	CCDS30943.1	1																																																																																			TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.527	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0.00	38	0	C	XM_040527		175097224	+1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	silent	50.72	34	35	SNP	0.000	T
TNR	7143	genome.wustl.edu	37	1	175360447	175360447	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:175360447delG	ENST00000367674.2	-	7	2192	c.1484delC	c.(1483-1485)cctfs	p.P495fs	TNR_ENST00000263525.2_Frame_Shift_Del_p.P495fs			Q92752	TENR_HUMAN	tenascin R	495	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCCGAGGTAGGGGGGCTGCG	0.552																																																	0													67.0	71.0	70.0					1																	175360447		2203	4300	6503	SO:0001589	frameshift_variant	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1484delC	1.37:g.175360447delG	ENSP00000356646:p.Pro495fs		C9J563|Q15568|Q5R3G0	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.P495fs	ENST00000367674.2	37	c.1484	CCDS1318.1	1																																																																																			TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4		0.00	36	0	G	NM_003285		175360447	-1	tier1		no_errors	ENST00000263525	ensembl	human	known	74_37	frame_shift_del	58.82	21	30	DEL	1.000	-
TNXB	7148	genome.wustl.edu	37	6	32032631	32032631	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:32032631G>A	ENST00000375244.3	-	19	7009	c.6808C>T	c.(6808-6810)Cgc>Tgc	p.R2270C	TNXB_ENST00000375247.2_Missense_Mutation_p.R2270C			P22105	TENX_HUMAN	tenascin XB	2342	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGCCCACGCGCTGGCCACCG	0.597																																																	0													49.0	57.0	54.0					6																	32032631		1249	2546	3795	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6808C>T	6.37:g.32032631G>A	ENSP00000364393:p.Arg2270Cys		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R2270C	ENST00000375244.3	37	c.6808		6	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870844	0.91587	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.05025	3.51;3.51	4.82	4.82	0.62117	.	0.000000	0.41823	D	0.000809	T	0.27594	0.0678	H	0.94264	3.515	0.43745	D	0.996249	D	0.89917	1.0	D	0.91635	0.999	T	0.30592	-0.9973	10	0.62326	D	0.03	.	14.9075	0.70730	0.0:0.0:1.0:0.0	.	2270	P22105-3	.	C	2270	ENSP00000364393:R2270C;ENSP00000364396:R2270C	ENSP00000364393:R2270C	R	-	1	0	TNXB	32140609	0.997000	0.39634	0.988000	0.46212	0.429000	0.31625	3.851000	0.55926	2.484000	0.83849	0.591000	0.81541	CGC	TNXB	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.597	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2		0.00	27	0	G	NM_019105		32032631	-1			no_errors	ENST00000375247	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	A
TOMM22	56993	genome.wustl.edu	37	22	39078977	39078977	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:39078977A>G	ENST00000216034.4	+	3	361	c.330A>G	c.(328-330)caA>caG	p.Q110Q	RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000412067.1_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	110	Poly-Gln.				cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					AAATGGAGCAACAGCAGCAAC	0.517																																																	0													104.0	97.0	99.0					22																	39078977		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040119	CCDS13975.1	22q12-q13	2010-07-29			ENSG00000100216	ENSG00000100216			18002	protein-coding gene	gene with protein product		607046				10982837, 10900208	Standard	NM_020243		Approved	TOM22	uc003awe.3	Q9NS69	OTTHUMG00000150991	ENST00000216034.4:c.330A>G	22.37:g.39078977A>G				Silent	SNP	pfam_Tom22	p.Q110	ENST00000216034.4	37	c.330	CCDS13975.1	22																																																																																			TOMM22	-	pfam_Tom22	ENSG00000100216		0.517	TOMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM22	HGNC	protein_coding	OTTHUMT00000320842.1	-	0.00	56	0	A			39078977	+1	tier1	-	no_errors	ENST00000216034	ensembl	human	known	74_37	silent	21.05	90	24	SNP	0.994	G
TOPAZ1	375337	genome.wustl.edu	37	3	44286118	44286119	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:44286118_44286119insAG	ENST00000309765.4	+	2	2288_2289	c.2120_2121insAG	c.(2119-2124)tcagagfs	p.SE707fs		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	707						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										GCCAAGTCATCAGAGAGAGAAG	0.351																																																	0																																										SO:0001589	frameshift_variant	0			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.2127_2128dupAG	3.37:g.44286125_44286126dupAG	ENSP00000310303:p.Ser707fs			Frame_Shift_Ins	INS	NULL	p.E711fs	ENST00000309765.4	37	c.2120_2121	CCDS46809.1	3																																																																																			TOPAZ1	-	NULL	ENSG00000173769		0.351	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPAZ1	HGNC	protein_coding	OTTHUMT00000343247.1		0.00	10	0	-	NM_001145030		44286119	+1	tier1		no_errors	ENST00000309765	ensembl	human	known	74_37	frame_shift_ins	33.33	6	3	INS	1.000:0.999	AG
TOPBP1	11073	genome.wustl.edu	37	3	133379900	133379900	+	Frame_Shift_Del	DEL	A	A	-	rs142462088		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:133379900delA	ENST00000260810.5	-	2	203	c.72delT	c.(70-72)tttfs	p.F24fs	TFP1_ENST00000460564.1_RNA	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	24					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CGAGAGCTTTAAAAAAACATT	0.308								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													37.0	33.0	34.0					3																	133379900		1567	3581	5148	SO:0001589	frameshift_variant	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.72delT	3.37:g.133379900delA	ENSP00000260810:p.Phe24fs		B7Z7W8|Q7LGC1|Q9UEB9	Frame_Shift_Del	DEL	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.F24fs	ENST00000260810.5	37	c.72	CCDS46919.1	3																																																																																			TOPBP1	-	NULL	ENSG00000163781		0.308	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1		0.00	39	0	A	NM_007027		133379900	-1	tier1		no_errors	ENST00000260810	ensembl	human	known	74_37	frame_shift_del	35.71	45	25	DEL	0.998	-
TP53	7157	genome.wustl.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	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"""	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		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.R282W	ENST00000269305.4	37	c.844	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG	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	38	0	G	NM_000546		7577094	-1	tier1	rs28934574	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	41.67	35	25	SNP	0.997	A
TP53	7157	genome.wustl.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_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	27	0	T	NM_000546		7578190	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	44.58	46	37	SNP	0.998	C
TPO	7173	genome.wustl.edu	37	2	1544474	1544474	+	Silent	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:1544474C>A	ENST00000345913.4	+	16	2818	c.2727C>A	c.(2725-2727)gcC>gcA	p.A909A	TPO_ENST00000382198.1_Silent_p.A736A|TPO_ENST00000349624.3_Silent_p.A736A|TPO_ENST00000346956.3_Silent_p.A865A|TPO_ENST00000329066.4_Silent_p.A909A|TPO_ENST00000382201.3_Silent_p.A852A|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	909					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGCAGCGGGCCGCAGCTCAGG	0.642																																																	0													59.0	54.0	55.0					2																	1544474		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2727C>A	2.37:g.1544474C>A			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.A909	ENST00000345913.4	37	c.2727	CCDS1643.1	2																																																																																			TPO	-	NULL	ENSG00000115705		0.642	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	-	0.00	42	0	C	NM_000547		1544474	+1	tier1	-	no_errors	ENST00000329066	ensembl	human	known	74_37	silent	43.84	41	32	SNP	0.000	A
TPRXL	348825	genome.wustl.edu	37	3	14106354	14106354	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:14106354C>T	ENST00000424053.1	+	3	1225	c.678C>T	c.(676-678)agC>agT	p.S226S	TPRXL_ENST00000532753.1_Intron|TPRXL_ENST00000326972.8_Silent_p.S226S|TPRXL_ENST00000429201.1_Silent_p.S226S			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like	0	Ser-rich.									endometrium(1)	1						gcagcagcagccccagcagca	0.701																																																	0																																										SO:0001819	synonymous_variant	0			AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509	ENST00000424053.1:c.678C>T	3.37:g.14106354C>T			Q8NAM5	Silent	SNP	NULL	p.S226	ENST00000424053.1	37	c.678		3																																																																																			TPRXL	-	NULL	ENSG00000180438		0.701	TPRXL-003	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	TPRXL	HGNC	protein_coding	OTTHUMT00000340436.1	-	0.00	20	0	C	NR_002223		14106354	+1	tier1	-	no_errors	ENST00000326972	ensembl	human	known	74_37	silent	22.50	31	9	SNP	0.580	T
TRA2B	6434	genome.wustl.edu	37	3	185641779	185641779	+	Intron	DEL	A	A	-	rs560588241	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:185641779delA	ENST00000453386.2	-	4	609				TRA2B_ENST00000382191.4_Intron|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TTGCCTAGGGAAAAAAAAAAG	0.348																																																	0										123,4143		0,123,2010						3.2	0.6			44	332,7922		0,332,3795	no	intron	TRA2B	NM_004593.2		0,455,5805	A1A1,A1R,RR		4.0223,2.8833,3.6342				455,12065				SO:0001627	intron_variant	0			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.334-7T>-	3.37:g.185641779delA			B4DVK2|D3DNU3|O15449|Q15815|Q64283	RNA	DEL	-	NULL	ENST00000453386.2	37	NULL	CCDS33905.1	3																																																																																			TRA2B	-	-	ENSG00000136527		0.348	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	HGNC	protein_coding	OTTHUMT00000344984.1		0.00	13	0	A	NM_004593		185641779	-1	tier1		no_errors	ENST00000465245	ensembl	human	known	74_37	rna	24.14	22	7	DEL	0.000	-
TRABD2B	388630	genome.wustl.edu	37	1	48240924	48240924	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:48240924G>A	ENST00000606738.2	-	6	1372	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	TRABD2B_ENST00000435576.2_5'UTR	NM_001194986.1	NP_001181915.1	A6NFA1	TIKI2_HUMAN	TraB domain containing 2B	423					metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										TTCCTCTGCCGGCCAAACTCC	0.662																																																	0																																										SO:0001583	missense	0				CCDS58000.1	1p33	2012-07-04			ENSG00000204018				44200	protein-coding gene	gene with protein product		614913					Standard	NM_001194986		Approved		uc021ong.1	A6NFA1	OTTHUMG00000007960	ENST00000606738.2:c.1267C>T	1.37:g.48240924G>A	ENSP00000476820:p.Arg423Trp		I6U4Y0	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C	p.R423W	ENST00000606738.2	37	c.1267	CCDS58000.1	1																																																																																			TRABD2B	-	NULL	ENSG00000269113		0.662	TRABD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRABD2B	HGNC	protein_coding	OTTHUMT00000021842.3	-	0.00	26	0	G	NM_001194986		48240924	-1	tier1	-	no_errors	ENST00000606738	ensembl	human	known	74_37	missense	13.73	44	7	SNP	0.989	A
TRAF6	7189	genome.wustl.edu	37	11	36522834	36522834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:36522834G>A	ENST00000526995.1	-	2	478	c.232C>T	c.(232-234)Cga>Tga	p.R78*	TRAF6_ENST00000348124.5_Nonsense_Mutation_p.R78*	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	78	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				ACTGCTTCTCGTAATGCCATC	0.458																																																	0													69.0	54.0	59.0					11																	36522834		2202	4298	6500	SO:0001587	stop_gained	0				CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.232C>T	11.37:g.36522834G>A	ENSP00000433623:p.Arg78*		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Nonsense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.R78*	ENST00000526995.1	37	c.232	CCDS7901.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.875538	0.97055	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	.	.	.	5.62	5.62	0.85841	.	0.437141	0.27659	N	0.018397	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.134	19.6539	0.95828	0.0:0.0:1.0:0.0	.	.	.	.	X	78	.	ENSP00000337853:R78X	R	-	1	2	TRAF6	36479410	1.000000	0.71417	0.932000	0.37286	0.288000	0.27193	4.233000	0.58651	2.653000	0.90120	0.467000	0.42956	CGA	TRAF6	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_RING	ENSG00000175104		0.458	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF6	HGNC	protein_coding	OTTHUMT00000389530.1	-	0.00	39	0	G	NM_145803		36522834	-1	tier1	-	no_errors	ENST00000348124	ensembl	human	known	74_37	nonsense	40.00	36	24	SNP	0.994	A
TRAPPC12	51112	genome.wustl.edu	37	2	3464042	3464042	+	Missense_Mutation	SNP	C	C	T	rs547696140		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:3464042C>T	ENST00000324266.5	+	8	1807	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R538W|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	538					vesicle-mediated transport (GO:0016192)												AGCCTCTATCCGGCTGTGGAG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		17113	0.0		0.0	False		,,,				2504	0.001																0													86.0	78.0	81.0					2																	3464042		2203	4300	6503	SO:0001583	missense	0			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1612C>T	2.37:g.3464042C>T	ENSP00000324318:p.Arg538Trp		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R538W	ENST00000324266.5	37	c.1612	CCDS1652.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.29|15.29	2.789864|2.789864	0.50102|0.50102	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000433382|ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624	.|T;T	.|0.45276	.|0.9;0.9	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.250135	.|0.40728	.|N	.|0.001029	T|T	0.45955|0.45955	0.1368|0.1368	L|L	0.38175|0.38175	1.15|1.15	0.27936|0.27936	N|N	0.937692|0.937692	.|D;D	.|0.71674	.|0.998;0.998	.|P;P	.|0.49502	.|0.613;0.613	T|T	0.44667|0.44667	-0.9313|-0.9313	5|10	.|0.72032	.|D	.|0.01	.|.	18.9188|18.9188	0.92516|0.92516	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|527;538	.|E7ENL7;Q8WVT3	.|.;TPC12_HUMAN	L|W	83|538;527;538;36	.|ENSP00000371544:R538W;ENSP00000324318:R538W	.|ENSP00000303612:R527W	P|R	+|+	2|1	0|2	TTC15|TTC15	3443049|3443049	0.998000|0.998000	0.40836|0.40836	0.933000|0.933000	0.37362|0.37362	0.133000|0.133000	0.20885|0.20885	3.543000|3.543000	0.53633|0.53633	2.716000|2.716000	0.92895|0.92895	0.467000|0.467000	0.42956|0.42956	CCG|CGG	TRAPPC12	-	NULL	ENSG00000171853		0.507	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	HGNC	protein_coding	OTTHUMT00000206693.2	-	0.00	61	0	C	NM_016030		3464042	+1	tier1	-	no_errors	ENST00000324266	ensembl	human	known	74_37	missense	36.94	99	58	SNP	0.977	T
TRAPPC9	83696	genome.wustl.edu	37	8	141294067	141294067	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:141294067G>A	ENST00000438773.2	-	14	2168	c.2035C>T	c.(2035-2037)Ccg>Tcg	p.P679S	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P670S|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.P777S	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	679					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTTATTCCCGGCAGGTTATCC	0.522																																																	0													128.0	118.0	121.0					8																	141294067		2203	4300	6503	SO:0001583	missense	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2035C>T	8.37:g.141294067G>A	ENSP00000405060:p.Pro679Ser		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.P777S	ENST00000438773.2	37	c.2329	CCDS55278.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.334|8.334	0.827190|0.827190	0.16749|0.16749	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.371406	.|0.30649	.|N	.|0.009180	T|T	0.23965|0.23965	0.0580|0.0580	N|N	0.08118|0.08118	0|0	0.27117|0.27117	N|N	0.962223|0.962223	.|P;B;B;B	.|0.39352	.|0.669;0.229;0.015;0.383	.|B;B;B;B	.|0.41374	.|0.355;0.111;0.046;0.178	T|T	0.11966|0.11966	-1.0566|-1.0566	5|9	.|0.10111	.|T	.|0.7	.|.	19.5027|19.5027	0.95103|0.95103	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|777;679;670;777	.|A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.|.;TPPC9_HUMAN;.;.	V|S	522|777;670;679	.|.	.|ENSP00000373978:P670S	A|P	-|-	2|1	0|0	TRAPPC9|TRAPPC9	141363249|141363249	0.984000|0.984000	0.35163|0.35163	0.662000|0.662000	0.29724|0.29724	0.061000|0.061000	0.15899|0.15899	1.845000|1.845000	0.39279|0.39279	2.601000|2.601000	0.87937|0.87937	0.655000|0.655000	0.94253|0.94253	GCC|CCG	TRAPPC9	-	pfam_TRAPP_II_complex_Trs120	ENSG00000167632		0.522	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	-	0.00	31	0	G	NM_031466		141294067	-1	tier1	-	no_errors	ENST00000389328	ensembl	human	known	74_37	missense	10.98	73	9	SNP	0.787	A
TRDN	10345	genome.wustl.edu	37	6	123759208	123759209	+	Splice_Site	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:123759208_123759209insT	ENST00000398178.3	-	12	1071_1072	c.1050_1051insA	c.(1048-1053)aaagag>aaaAgag	p.E351fs	RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000587049.1_RNA|TRDN_ENST00000334268.4_Splice_Site_p.E351fs|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	351					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGTGCAATACCTTTTTTTTCCA	0.337																																																	0																																										SO:0001630	splice_region_variant	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1051+1->A	6.37:g.123759216_123759216dupT			A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Ins	INS	pfam_Asp-B-hydro/Triadin_dom	p.E350fs	ENST00000398178.3	37	c.1051_1050	CCDS55053.1	6																																																																																			TRDN	-	NULL	ENSG00000186439		0.337	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding			0.00	26	0	-		Frame_Shift_Ins	123759209	-1	tier1		no_errors	ENST00000398178	ensembl	human	known	74_37	frame_shift_ins	30.77	18	8	INS	1.000:1.000	T
TRDN	10345	genome.wustl.edu	37	6	123786066	123786066	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:123786066A>C	ENST00000398178.3	-	10	937	c.916T>G	c.(916-918)Tca>Gca	p.S306A	RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000587049.1_RNA|TRDN_ENST00000334268.4_Missense_Mutation_p.S306A|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000546248.1_Missense_Mutation_p.S286A	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	306					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGGGCAGGTGATGCCGGAGTG	0.398																																																	0													91.0	94.0	93.0					6																	123786066		1971	4139	6110	SO:0001583	missense	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.916T>G	6.37:g.123786066A>C	ENSP00000381240:p.Ser306Ala		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom	p.S306A	ENST00000398178.3	37	c.916	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	A	7.776	0.708581	0.15239	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248	T;T;T	0.64085	-0.08;-0.08;0.51	5.7	-0.982	0.10266	.	0.478306	0.18053	N	0.153211	T	0.13243	0.0321	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.23316	0.033;0.048;0.048;0.083	B;B;B;B	0.21917	0.037;0.024;0.024;0.024	T	0.27571	-1.0070	10	0.08837	T	0.75	0.1705	3.7392	0.08523	0.3244:0.0:0.1917:0.4838	.	286;306;306;306	F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;TRDN_HUMAN	A	306;306;306;306;306;286	ENSP00000381240:S306A;ENSP00000333984:S306A;ENSP00000439281:S286A	ENSP00000333984:S306A	S	-	1	0	TRDN	123827765	0.014000	0.17966	0.048000	0.18961	0.371000	0.29859	-0.066000	0.11598	0.420000	0.25954	0.482000	0.46254	TCA	TRDN	-	NULL	ENSG00000186439		0.398	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		-	0.00	20	0	A			123786066	-1	tier1	-	no_errors	ENST00000398178	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.015	C
AC005013.5	0	genome.wustl.edu	37	7	28996482	28996482	+	lincRNA	DEL	G	G	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:28996482delG	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							TCGCAGGGCCGGGGGGTGGCG	0.662																																																	0													24.0	32.0	29.0					7																	28996482		2089	4205	6294			0																															7.37:g.28996482delG				RNA	DEL	-	NULL	ENST00000436594.1	37	NULL		7																																																																																			TRIL	-	-	ENSG00000176734		0.662	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	TRIL	HGNC	lincRNA	OTTHUMT00000327953.3		0.00	22	0	G			28996482	-1	tier1		no_errors	ENST00000322982	ensembl	human	known	74_37	rna	23.26	66	20	DEL	0.426	-
TRIM25	7706	genome.wustl.edu	37	17	54968084	54968085	+	3'UTR	DEL	AG	AG	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:54968084_54968085delAG	ENST00000316881.4	-	0	2918_2919				RP11-670E13.5_ENST00000574826.1_RNA|TRIM25_ENST00000573108.1_5'UTR|MIR3614_ENST00000581261.1_RNA	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					AATCCAGGGAAGAGAGGCTATC	0.54																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.*977CT>-	17.37:g.54968088_54968089delAG				RNA	DEL	-	NULL	ENST00000316881.4	37	NULL	CCDS11591.1	17																																																																																			TRIM25	-	-	ENSG00000121060		0.540	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM25	HGNC	protein_coding	OTTHUMT00000440609.1		0.00	41	0	AG	NM_005082		54968085	-1	tier1		no_errors	ENST00000573108	ensembl	human	putative	74_37	rna	53.85	18	21	DEL	0.000:0.000	-
TRIM33	51592	genome.wustl.edu	37	1	115007001	115007001	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:115007001A>C	ENST00000358465.2	-	2	619	c.536T>G	c.(535-537)aTa>aGa	p.I179R	TRIM33_ENST00000369543.2_Missense_Mutation_p.I179R|TRIM33_ENST00000450349.2_5'Flank	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	179					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGGCACCGTATTACACCAAC	0.343			T	RET	papillary thyroid																																			Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	0													93.0	91.0	92.0					1																	115007001		2203	4300	6503	SO:0001583	missense	0			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.536T>G	1.37:g.115007001A>C	ENSP00000351250:p.Ile179Arg		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.I179R	ENST00000358465.2	37	c.536	CCDS872.1	1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470358	0.84533	.	.	ENSG00000197323	ENST00000358465;ENST00000369543	T;T	0.68331	-0.32;-0.32	5.8	5.8	0.92144	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);	0.038767	0.85682	D	0.000000	T	0.69205	0.3085	L	0.35644	1.08	0.80722	D	1	D;D	0.64830	0.981;0.994	P;D	0.72982	0.74;0.979	T	0.74535	-0.3633	10	0.87932	D	0	-14.1923	15.8211	0.78644	1.0:0.0:0.0:0.0	.	179;179	Q9UPN9-2;Q9UPN9	.;TRI33_HUMAN	R	179	ENSP00000351250:I179R;ENSP00000358556:I179R	ENSP00000351250:I179R	I	-	2	0	TRIM33	114808524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.993000	0.76245	2.216000	0.71823	0.533000	0.62120	ATA	TRIM33	-	smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_RING	ENSG00000197323		0.343	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	HGNC	protein_coding	OTTHUMT00000032854.1	-	0.00	18	0	A	NM_015906		115007001	-1	tier1	-	no_errors	ENST00000358465	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	C
TRIM36	55521	genome.wustl.edu	37	5	114499432	114499432	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:114499432G>A	ENST00000282369.3	-	2	202	c.81C>T	c.(79-81)atC>atT	p.I27I	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000513154.1_Silent_p.I15I|TRIM36_ENST00000514154.1_Intron	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	27					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GCTCCCTTTCGATATTCTTAA	0.383																																																	0													80.0	75.0	76.0					5																	114499432		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.81C>T	5.37:g.114499432G>A			A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I27	ENST00000282369.3	37	c.81	CCDS4115.1	5																																																																																			TRIM36	-	NULL	ENSG00000152503		0.383	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2	-	0.00	27	0	G	NM_018700		114499432	-1	tier1	-	no_errors	ENST00000282369	ensembl	human	known	74_37	silent	78.57	3	11	SNP	1.000	A
TRIM48	79097	genome.wustl.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044																22	Substitution - Missense(22)	endometrium(22)											109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	0			AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His		Q9BUW4	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.Y192H	ENST00000417545.2	37	c.574	CCDS7947.2	11	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC	TRIM48	-	NULL	ENSG00000150244		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM48	HGNC	protein_coding	OTTHUMT00000347088.1	-	0.00	104	0	T			55035844	+1	tier1	-	no_errors	ENST00000417545	ensembl	human	known	74_37	missense	14.49	117	20	SNP	0.183	C
TRIM71	131405	genome.wustl.edu	37	3	32932582	32932582	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:32932582G>C	ENST00000383763.5	+	4	1949	c.1886G>C	c.(1885-1887)cGc>cCc	p.R629P		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	629					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAACAACCGCATCCAGGTG	0.642																																																	0													26.0	30.0	29.0					3																	32932582		2122	4233	6355	SO:0001583	missense	0				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1886G>C	3.37:g.32932582G>C	ENSP00000373272:p.Arg629Pro			Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.R629P	ENST00000383763.5	37	c.1886	CCDS43060.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086450	0.76642	.	.	ENSG00000206557	ENST00000383763	T	0.79554	-1.28	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94670	0.8281	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96481	0.9356	10	0.72032	D	0.01	-35.7322	18.6812	0.91547	0.0:0.0:1.0:0.0	.	629	Q2Q1W2	LIN41_HUMAN	P	629	ENSP00000373272:R629P	ENSP00000373272:R629P	R	+	2	0	TRIM71	32907586	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.767000	0.95098	0.650000	0.86243	CGC	TRIM71	-	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	ENSG00000206557		0.642	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	HGNC	protein_coding	OTTHUMT00000341565.3	-	0.00	8	0	G	NM_001039111		32932582	+1	tier1	-	no_errors	ENST00000383763	ensembl	human	known	74_37	missense	63.16	7	12	SNP	1.000	C
TRIO	7204	genome.wustl.edu	37	5	14477004	14477004	+	Splice_Site	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:14477004delT	ENST00000344204.4	+	41	6109	c.6085delT	c.(6085-6087)ttt>tt	p.F2030fs	TRIO_ENST00000537187.1_Splice_Site_p.F2030fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2030	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCTTTCCAGCTTTTTTTTAGG	0.308																																																	0													78.0	74.0	75.0					5																	14477004		2203	4300	6503	SO:0001630	splice_region_variant	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6084-1T>-	5.37:g.14477004delT			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Frame_Shift_Del	DEL	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.L2031fs	ENST00000344204.4	37	c.6085	CCDS3883.1	5																																																																																			TRIO	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000038382		0.308	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2		0.00	62	0	T	NM_007118	Frame_Shift_Del	14477004	+1			no_errors	ENST00000344204	ensembl	human	known	74_37	frame_shift_del	11.45	147	19	DEL	1.000	0
TSC2	7249	genome.wustl.edu	37	16	2131769	2131769	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:2131769A>G	ENST00000219476.3	+	31	4414	c.3784A>G	c.(3784-3786)Aaa>Gaa	p.K1262E	TSC2_ENST00000401874.2_Missense_Mutation_p.K1218E|TSC2_ENST00000382538.6_Missense_Mutation_p.K1170E|TSC2_ENST00000439673.2_Missense_Mutation_p.K1182E|TSC2_ENST00000568454.1_Missense_Mutation_p.K1229E|TSC2_ENST00000353929.4_Missense_Mutation_p.K1219E|TSC2_ENST00000350773.4_Missense_Mutation_p.K1262E	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1262					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGCACGGCCAAACCCCCTCC	0.662			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													56.0	50.0	52.0					16																	2131769		2198	4298	6496	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3784A>G	16.37:g.2131769A>G	ENSP00000219476:p.Lys1262Glu		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.K1262E	ENST00000219476.3	37	c.3784	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	A	20.5	4.009396	0.75046	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.89746	-2.45;-2.47;-2.56;-2.53;-2.48	4.49	3.39	0.38822	.	0.493453	0.22524	N	0.058939	D	0.87865	0.6285	N	0.19112	0.55	0.33464	D	0.585305	P;D;D;P;D;D	0.58268	0.949;0.97;0.97;0.767;0.981;0.982	P;P;P;P;P;D	0.67548	0.554;0.74;0.74;0.491;0.845;0.952	D	0.87865	0.2667	10	0.38643	T	0.18	-17.111	9.799	0.40753	0.9178:0.0:0.0822:0.0	.	1170;1182;1262;1218;1218;1262	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	E	1262;1219;1219;1182;1170;1262	ENSP00000219476:K1262E;ENSP00000248099:K1219E;ENSP00000399232:K1182E;ENSP00000371978:K1170E;ENSP00000344383:K1262E	ENSP00000219476:K1262E	K	+	1	0	TSC2	2071770	1.000000	0.71417	0.803000	0.32268	0.050000	0.14768	6.781000	0.75068	0.595000	0.29777	0.459000	0.35465	AAA	TSC2	-	NULL	ENSG00000103197		0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	-	0.00	72	0	A	NM_000548		2131769	+1	tier1	-	no_errors	ENST00000219476	ensembl	human	known	74_37	missense	18.26	94	21	SNP	1.000	G
TSGA10	80705	genome.wustl.edu	37	2	99695219	99695219	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:99695219G>T	ENST00000393483.3	-	12	1629	c.785C>A	c.(784-786)aCc>aAc	p.T262N	TSGA10_ENST00000542655.1_Missense_Mutation_p.T262N|TSGA10_ENST00000539964.1_Missense_Mutation_p.T262N|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000355053.4_Missense_Mutation_p.T262N|TSGA10_ENST00000410001.1_Missense_Mutation_p.T262N	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	262					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATCATTGAGGGTTCCACCAAG	0.348																																																	0													111.0	107.0	108.0					2																	99695219		2203	4300	6503	SO:0001583	missense	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.785C>A	2.37:g.99695219G>T	ENSP00000377123:p.Thr262Asn		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.T262N	ENST00000393483.3	37	c.785	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883293	0.72410	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.76968	0.77;0.77;0.77;0.77;-1.06;-1.06;0.77	5.15	5.15	0.70609	.	0.093663	0.46758	D	0.000269	D	0.85539	0.5720	M	0.61703	1.905	0.44702	D	0.997699	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85144	0.0982	10	0.48119	T	0.1	-5.2187	13.9861	0.64337	0.0:0.0:1.0:0.0	.	262;262	B7Z925;Q9BZW7	.;TSG10_HUMAN	N	262	ENSP00000377123:T262N;ENSP00000386956:T262N;ENSP00000347161:T262N;ENSP00000444419:T262N;ENSP00000386508:T262N;ENSP00000377122:T262N;ENSP00000445623:T262N	ENSP00000347161:T262N	T	-	2	0	TSGA10	99061651	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	3.939000	0.56591	2.673000	0.90976	0.467000	0.42956	ACC	TSGA10	-	NULL	ENSG00000135951		0.348	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	-	0.00	41	0	G	NM_182911		99695219	-1	tier1	-	no_errors	ENST00000355053	ensembl	human	known	74_37	missense	41.67	35	25	SNP	0.999	T
TSPAN1	10103	genome.wustl.edu	37	1	46650192	46650192	+	Intron	DEL	G	G	-	rs563543415	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:46650192delG	ENST00000372003.1	+	5	728				TSPAN1_ENST00000498443.1_Intron	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1						cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				TCACTTTTCCGGGGGGGGGAT	0.587																																																	0																																										SO:0001627	intron_variant	0			BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"""Tetraspanins"""	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.265-74G>-	1.37:g.46650192delG			D3DQ14|O60745|Q5VST0	RNA	DEL	-	NULL	ENST00000372003.1	37	NULL	CCDS530.1	1																																																																																			TSPAN1	-	-	ENSG00000117472		0.587	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN1	HGNC	protein_coding	OTTHUMT00000020135.1		0.00	25	0	G	NM_005727		46650192	+1	tier1		no_errors	ENST00000482143	ensembl	human	known	74_37	rna	22.41	45	13	DEL	0.000	-
TSPAN14	81619	genome.wustl.edu	37	10	82279271	82279273	+	3'UTR	DEL	TTT	TTT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:82279271_82279273delTTT	ENST00000429989.3	+	0	2575_2577				TSPAN14_ENST00000265450.5_3'UTR|TSPAN14_ENST00000372164.3_3'UTR	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14						establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TTGATGATGATTTTTTTTTTTTT	0.394																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.*1541TTT>-	10.37:g.82279280_82279282delTTT			A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	RNA	DEL	-	NULL	ENST00000429989.3	37	NULL	CCDS7369.1	10																																																																																			TSPAN14	-	-	ENSG00000108219		0.394	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN14	HGNC	protein_coding	OTTHUMT00000049081.2		0.00	87	0	TTT	NM_030927		82279273	+1	tier1		no_errors	ENST00000265450	ensembl	human	known	74_37	rna	10.47	77	9	DEL	0.000:0.000:0.000	-
TSPEAR	54084	genome.wustl.edu	37	21	45947292	45947292	+	Silent	SNP	T	T	G	rs140251163		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr21:45947292T>G	ENST00000323084.4	-	7	1097	c.1032A>C	c.(1030-1032)acA>acC	p.T344T	TSPEAR_ENST00000397916.1_Silent_p.T276T	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	344					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGCGATTGGCTGTGGCCACAA	0.562																																																	0													255.0	224.0	234.0					21																	45947292		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1032A>C	21.37:g.45947292T>G				Silent	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.T344	ENST00000323084.4	37	c.1032	CCDS13712.1	21																																																																																			TSPEAR	-	pfscan_EAR	ENSG00000175894		0.562	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	-	0.00	34	0	T	NM_144991		45947292	-1	tier1	-	no_errors	ENST00000323084	ensembl	human	known	74_37	silent	78.79	7	26	SNP	0.000	G
TSPY26P	128854	genome.wustl.edu	37	20	30776958	30776958	+	RNA	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:30776958A>G	ENST00000565928.1	-	0	1205					NR_002781.1		Q9H489	TSY26_HUMAN	testis specific protein, Y-linked 26, pseudogene						nucleosome assembly (GO:0006334)	nucleus (GO:0005634)											CGCCACCCGTAGGAGGCATGA	0.617																																																	0																																												0					20q11.21	2010-10-28	2010-10-28	2010-10-28	ENSG00000235217	ENSG00000235217			16256	pseudogene	pseudogene			"""TSPY-like 3"", ""TSPY-like 3 (pseudogene)"""	TSPYL3			Standard	NR_002781		Approved	bA392M18.1	uc002wxm.1	Q9H489	OTTHUMG00000032212		20.37:g.30776958A>G			Q3MJ63|Q3MJ65	RNA	SNP	-	NULL	ENST00000565928.1	37	NULL		20																																																																																			TSPY26P	-	-	ENSG00000235217		0.617	TSPY26P-002	KNOWN	basic	processed_transcript	TSPY26P	HGNC	pseudogene	OTTHUMT00000430653.1	-	0.00	9	0	A	NM_178465		30776958	-1	tier1	-	no_errors	ENST00000565928	ensembl	human	known	74_37	rna	33.33	15	8	SNP	0.025	G
TSPYL6	388951	genome.wustl.edu	37	2	54483060	54483060	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:54483060C>T	ENST00000317802.7	-	1	349	c.229G>A	c.(229-231)Gcg>Acg	p.A77T	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	77					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CTGCGACCCGCATCGACCAAG	0.647																																																	0													47.0	54.0	51.0					2																	54483060		2017	4172	6189	SO:0001583	missense	0			AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.229G>A	2.37:g.54483060C>T	ENSP00000417919:p.Ala77Thr		Q6NUJ3	Missense_Mutation	SNP	pfam_NAP_family	p.A77T	ENST00000317802.7	37	c.229	CCDS42682.1	2	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557403	0.27827	.	.	ENSG00000178021	ENST00000317802	T	0.25749	1.78	0.994	0.994	0.19832	.	.	.	.	.	T	0.11965	0.0291	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.22941	-1.0202	9	0.72032	D	0.01	.	5.3254	0.15903	0.0:1.0:0.0:0.0	.	77	Q8N831	TSYL6_HUMAN	T	77	ENSP00000417919:A77T	ENSP00000417919:A77T	A	-	1	0	TSPYL6	54336564	0.002000	0.14202	0.003000	0.11579	0.002000	0.02628	0.899000	0.28417	0.827000	0.34685	0.467000	0.42956	GCG	TSPYL6	-	NULL	ENSG00000178021		0.647	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL6	HGNC	protein_coding	OTTHUMT00000324069.3	-	0.00	13	0	C	XM_371494		54483060	-1	tier1	-	no_errors	ENST00000317802	ensembl	human	known	74_37	missense	18.18	45	10	SNP	0.003	T
TTC21B	79809	genome.wustl.edu	37	2	166781085	166781085	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:166781085A>T	ENST00000243344.7	-	12	1627	c.1490T>A	c.(1489-1491)cTa>cAa	p.L497Q		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	497					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTTTGCTATTAGGAAGACTGT	0.383																																																	0													43.0	46.0	45.0					2																	166781085		2203	4300	6503	SO:0001583	missense	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1490T>A	2.37:g.166781085A>T	ENSP00000243344:p.Leu497Gln		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L497Q	ENST00000243344.7	37	c.1490	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315449	0.81358	.	.	ENSG00000123607	ENST00000243344	T	0.75477	-0.94	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84683	0.5526	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84843	0.0809	10	0.46703	T	0.11	-9.2055	16.0824	0.81014	1.0:0.0:0.0:0.0	.	497	Q7Z4L5	TT21B_HUMAN	Q	497	ENSP00000243344:L497Q	ENSP00000243344:L497Q	L	-	2	0	TTC21B	166489331	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.771000	0.91751	2.203000	0.70933	0.459000	0.35465	CTA	TTC21B	-	smart_TPR_repeat	ENSG00000123607		0.383	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	-	0.00	34	0	A	NM_024753		166781085	-1	tier1	-	no_errors	ENST00000243344	ensembl	human	known	74_37	missense	40.91	39	27	SNP	1.000	T
CFAP46	54777	genome.wustl.edu	37	10	134682866	134682866	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:134682866C>T	ENST00000368586.5	-	33	4622	c.4522G>A	c.(4522-4524)Gcg>Acg	p.A1508T		NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCGGAGCACGCGTGGGCGAGG	0.637																																																	0																																										SO:0001583	missense	0																														ENST00000368586.5:c.4522G>A	10.37:g.134682866C>T	ENSP00000357575:p.Ala1508Thr			Missense_Mutation	SNP	NULL	p.A1508T	ENST00000368586.5	37	c.4522	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458516	0.26248	.	.	ENSG00000171811	ENST00000368586	T	0.08984	3.03	4.81	2.88	0.33553	.	.	.	.	.	T	0.07593	0.0191	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.33599	-0.9862	6	0.38643	T	0.18	.	4.2803	0.10829	0.0:0.6089:0.2091:0.182	.	.	.	.	T	1508	ENSP00000357575:A1508T	ENSP00000357575:A1508T	A	-	1	0	C10orf93	134532856	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.318000	0.19504	0.972000	0.38314	0.591000	0.81541	GCG	TTC40	-	NULL	ENSG00000171811		0.637	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	-	0.00	18	0	C			134682866	-1	tier1	-	no_errors	ENST00000368586	ensembl	human	putative	74_37	missense	36.36	21	12	SNP	0.001	T
TTF1	7270	genome.wustl.edu	37	9	135277540	135277541	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:135277540_135277541insT	ENST00000334270.2	-	2	707_708	c.668_669insA	c.(667-669)aagfs	p.K223fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	223	N-terminal region (NRD). {ECO:0000250}.|Poly-Lys.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGGACTTTTTCTTTTTTTTCTT	0.495																																																	0																																										SO:0001589	frameshift_variant	0			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.669dupA	9.37:g.135277548_135277548dupT	ENSP00000333920:p.Lys223fs		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Frame_Shift_Ins	INS	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K224fs	ENST00000334270.2	37	c.669_668	CCDS6948.1	9																																																																																			TTF1	-	NULL	ENSG00000125482		0.495	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2		0.00	23	0	-	NM_007344		135277541	-1	tier1		no_errors	ENST00000334270	ensembl	human	known	74_37	frame_shift_ins	22.03	46	13	INS	0.189:0.184	T
TTF1	7270	genome.wustl.edu	37	9	135277549	135277549	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:135277549C>T	ENST00000334270.2	-	2	699	c.660G>A	c.(658-660)aaG>aaA	p.K220K		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	220	N-terminal region (NRD). {ECO:0000250}.|Poly-Lys.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCTTTTTTTTCTTAGACTTGT	0.498																																																	0													41.0	44.0	43.0					9																	135277549		2203	4300	6503	SO:0001819	synonymous_variant	0			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.660G>A	9.37:g.135277549C>T			A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K220	ENST00000334270.2	37	c.660	CCDS6948.1	9																																																																																			TTF1	-	NULL	ENSG00000125482		0.498	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2		0.00	25	0	C	NM_007344		135277549	-1			no_errors	ENST00000334270	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.320	T
TTLL12	23170	genome.wustl.edu	37	22	43570300	43570300	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:43570300C>G	ENST00000216129.6	-	8	1207	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	TTLL12_ENST00000494035.1_5'Flank|TTLL12_ENST00000484118.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	382	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GGTGGGCCCTCGGGGCCACCT	0.657																																																	0													51.0	58.0	56.0					22																	43570300		2202	4298	6500	SO:0001583	missense	0			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1144G>C	22.37:g.43570300C>G	ENSP00000216129:p.Glu382Gln		Q20WK5|Q9UGU3	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.E382Q	ENST00000216129.6	37	c.1144	CCDS14047.1	22	.	.	.	.	.	.	.	.	.	.	C	10.40	1.341032	0.24339	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.05649	3.41	4.78	4.78	0.61160	.	0.351157	0.29684	N	0.011461	T	0.10252	0.0251	L	0.57536	1.79	0.31133	N	0.707559	B;B	0.25719	0.132;0.04	B;B	0.29785	0.107;0.069	T	0.05402	-1.0887	10	0.19147	T	0.46	-11.7952	17.832	0.88685	0.0:1.0:0.0:0.0	.	382;382	B1AH89;Q14166	.;TTL12_HUMAN	Q	382	ENSP00000216129:E382Q	ENSP00000216129:E382Q	E	-	1	0	TTLL12	41900244	0.941000	0.31946	0.983000	0.44433	0.450000	0.32258	2.044000	0.41241	2.179000	0.69175	0.655000	0.94253	GAG	TTLL12	-	pfam_TTL/TTLL_fam	ENSG00000100304		0.657	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL12	HGNC	protein_coding	OTTHUMT00000319611.1	-	0.00	16	0	C	NM_015140		43570300	-1	tier1	-	no_errors	ENST00000216129	ensembl	human	known	74_37	missense	40.38	31	21	SNP	0.888	G
TTN	7273	genome.wustl.edu	37	2	179445156	179445156	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:179445156G>A	ENST00000591111.1	-	267	62251	c.62027C>T	c.(62026-62028)aCt>aTt	p.T20676I	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T13252I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T13444I|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T19749I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T13377I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T22317I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20676					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)			GCGCAAGAAAGTGTCAAAGTC	0.388																																																	0													156.0	141.0	146.0					2																	179445156		1887	4105	5992	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.62027C>T	2.37:g.179445156G>A	ENSP00000465570:p.Thr20676Ile		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.T19749I	ENST00000591111.1	37	c.59246		2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407583	0.42715	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.34	5.34	0.76211	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70228	0.3200	M	0.85630	2.765	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;0.999;0.999	T	0.75587	-0.3266	9	0.87932	D	0	.	19.0305	0.92955	0.0:0.0:1.0:0.0	.	13252;13377;13444;20676	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	19749;13252;13444;13377;13250	ENSP00000343764:T19749I;ENSP00000434586:T13252I;ENSP00000340554:T13444I;ENSP00000352154:T13377I	ENSP00000340554:T13444I	T	-	2	0	TTN	179153402	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.018000	0.88722	2.500000	0.84329	0.563000	0.77884	ACT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	33	0	G	NM_133378		179445156	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	40.68	35	24	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179584079	179584079	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:179584079G>A	ENST00000591111.1	-	81	23311	c.23087C>T	c.(23086-23088)cCg>cTg	p.P7696L	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6769L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P8013L			Q8WZ42	TITIN_HUMAN	titin	13239	Ig-like 59.				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)			AACTGAAATCGGGGCTGAGCC	0.507																																																	0													103.0	105.0	104.0					2																	179584079		1899	4110	6009	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.23087C>T	2.37:g.179584079G>A	ENSP00000465570:p.Pro7696Leu		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.P6769L	ENST00000591111.1	37	c.20306		2	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449030	0.43531	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	6.08	6.08	0.98989	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81721	0.4882	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81417	-0.0942	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	7696	Q8WZ42	TITIN_HUMAN	L	6769	ENSP00000343764:P6769L	ENSP00000343764:P6769L	P	-	2	0	TTN	179292324	1.000000	0.71417	0.924000	0.36721	0.639000	0.38242	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	CCG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.507	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	47	0	G	NM_133378		179584079	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	54.55	20	24	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179623635	179623635	+	Intron	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:179623635T>C	ENST00000591111.1	-	44	10528				TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACATGAACTCTTGAGTAAT	0.358																																																	0																																										SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+75A>G	2.37:g.179623635T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	RNA	SNP	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			TTN-AS1	-	-	ENSG00000237298		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN-AS1	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	30	0	T	NM_133378		179623635	+1	tier1	-	no_errors	ENST00000610005	ensembl	human	known	74_37	rna	40.62	19	13	SNP	0.000	C
TTYH2	94015	genome.wustl.edu	37	17	72248476	72248476	+	Missense_Mutation	SNP	T	T	C	rs367606811		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:72248476T>C	ENST00000269346.4	+	11	1294	c.1220T>C	c.(1219-1221)aTc>aCc	p.I407T	TTYH2_ENST00000441391.2_Missense_Mutation_p.I86T|TTYH2_ENST00000529107.1_Missense_Mutation_p.I386T	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	407						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TCCACCATGATCTGTGCAGGG	0.622																																																	0													75.0	62.0	66.0					17																	72248476		2203	4300	6503	SO:0001583	missense	0				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1220T>C	17.37:g.72248476T>C	ENSP00000269346:p.Ile407Thr		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	pfam_Tweety	p.I407T	ENST00000269346.4	37	c.1220	CCDS32717.1	17	.	.	.	.	.	.	.	.	.	.	T	13.34	2.209383	0.39003	.	.	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.13089	2.62;2.62;2.62	5.79	4.72	0.59763	.	0.326391	0.34802	N	0.003670	T	0.12860	0.0312	L	0.43701	1.375	0.35704	D	0.815837	B;B	0.19200	0.034;0.005	B;B	0.22152	0.038;0.033	T	0.10706	-1.0618	10	0.33141	T	0.24	-27.5609	10.1657	0.42879	0.0:0.0802:0.0:0.9198	.	386;407	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	T	407;386;86	ENSP00000269346:I407T;ENSP00000433089:I386T;ENSP00000394576:I86T	ENSP00000269346:I407T	I	+	2	0	TTYH2	69760071	1.000000	0.71417	0.937000	0.37676	0.487000	0.33371	4.629000	0.61290	1.026000	0.39733	0.533000	0.62120	ATC	TTYH2	-	pfam_Tweety	ENSG00000141540		0.622	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TTYH2	HGNC	protein_coding	OTTHUMT00000387459.1	-	0.00	48	0	T			72248476	+1	tier1	-	no_errors	ENST00000269346	ensembl	human	known	74_37	missense	45.90	33	28	SNP	1.000	C
TUBA3D	113457	genome.wustl.edu	37	2	132236889	132236889	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:132236889C>T	ENST00000321253.6	+	3	342	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	79					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		AGATGAAGTGCGCACAGGGAC	0.512																																					Ovarian(137;2059 2432 35543 39401)												0													127.0	121.0	123.0					2																	132236889		2203	4300	6503	SO:0001583	missense	0			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.235C>T	2.37:g.132236889C>T	ENSP00000326042:p.Arg79Cys		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.R79C	ENST00000321253.6	37	c.235	CCDS33290.1	2	.	.	.	.	.	.	.	.	.	.	c	11.50	1.656771	0.29425	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.69685	-0.42	2.13	2.13	0.27403	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.45867	U	0.000332	T	0.82033	0.4949	M	0.91920	3.255	0.58432	D	0.999999	D	0.71674	0.998	D	0.68483	0.958	D	0.84234	0.0468	10	0.72032	D	0.01	.	9.9103	0.41401	0.0:1.0:0.0:0.0	.	79	Q13748	TBA3C_HUMAN	C	79	ENSP00000326042:R79C	ENSP00000326042:R79C	R	+	1	0	TUBA3D	131953359	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	6.468000	0.73551	1.180000	0.42898	0.194000	0.17425	CGC	TUBA3D	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Epsilon_tubulin	ENSG00000075886		0.512	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2	-	0.00	42	0	C	NM_080386		132236889	+1	tier1	-	no_errors	ENST00000321253	ensembl	human	known	74_37	missense	14.08	61	10	SNP	1.000	T
TUBGCP6	85378	genome.wustl.edu	37	22	50656444	50656444	+	Silent	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:50656444C>G	ENST00000248846.5	-	24	5375	c.5271G>C	c.(5269-5271)ggG>ggC	p.G1757G	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1757					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCCCAGGGGGCCCCCAGGCCT	0.612																																																	0													27.0	38.0	34.0					22																	50656444		2164	4220	6384	SO:0001819	synonymous_variant	0			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5271G>C	22.37:g.50656444C>G			Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	pfam_TUBGCP	p.G1757	ENST00000248846.5	37	c.5271	CCDS14087.1	22																																																																																			TUBGCP6	-	NULL	ENSG00000128159		0.612	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3		0.00	37	0	C	NM_020461		50656444	-1			no_errors	ENST00000248846	ensembl	human	known	74_37	silent	7.41	33	4	SNP	0.000	G
TUBGCP6	85378	genome.wustl.edu	37	22	50656444	50656444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:50656444delC	ENST00000248846.5	-	24	5375	c.5271delG	c.(5269-5271)gggfs	p.G1757fs	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1757					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCCCAGGGGGCCCCCAGGCCT	0.612																																																	0													27.0	38.0	34.0					22																	50656444		2164	4220	6384	SO:0001589	frameshift_variant	0			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5271delG	22.37:g.50656444delC	ENSP00000248846:p.Gly1757fs		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Frame_Shift_Del	DEL	pfam_TUBGCP	p.P1759fs	ENST00000248846.5	37	c.5271	CCDS14087.1	22																																																																																			TUBGCP6	-	NULL	ENSG00000128159		0.612	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3		0.00	37	0	C	NM_020461		50656444	-1	tier1		no_errors	ENST00000248846	ensembl	human	known	74_37	frame_shift_del	31.48	37	17	DEL	0.000	-
TVP23A	780776	genome.wustl.edu	37	16	10867203	10867203	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:10867203delA	ENST00000299866.8	-	5	711	c.420delT	c.(418-420)tttfs	p.F140fs	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	140						integral component of membrane (GO:0016021)											ATAAGGTGCTAAAAAAAAACA	0.443																																																	0													74.0	75.0	74.0					16																	10867203		1880	4107	5987	SO:0001589	frameshift_variant	0				CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member A"""	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.420delT	16.37:g.10867203delA	ENSP00000299866:p.Phe140fs		B2RUV4|B7ZW18	Frame_Shift_Del	DEL	pfam_DUF846_euk	p.F140fs	ENST00000299866.8	37	c.420	CCDS45408.1	16																																																																																			TVP23A	-	pfam_DUF846_euk	ENSG00000166676		0.443	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TVP23A	HGNC	protein_coding	OTTHUMT00000436680.1		0.00	12	0	A	NM_001079512		10867203	-1			no_errors	ENST00000299866	ensembl	human	known	74_37	frame_shift_del	30.77	9	4	DEL	1.000	0
TVP23B	51030	genome.wustl.edu	37	17	18694321	18694323	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTG	TTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:18694321_18694323delTTG	ENST00000307767.8	+	3	507_509	c.208_210delTTG	c.(208-210)ttgdel	p.L72del	TVP23B_ENST00000476139.1_In_Frame_Del_p.L8del|TVP23B_ENST00000581733.1_In_Frame_Del_p.L8del|TVP23B_ENST00000574226.1_In_Frame_Del_p.L72del	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	72						integral component of membrane (GO:0016021)											GACAATTATCTTGTTGTTGTCGT	0.325																																																	0																																										SO:0001651	inframe_deletion	0			AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.208_210delTTG	17.37:g.18694327_18694329delTTG	ENSP00000305654:p.Leu72del		A8K448|Q96HK5|Q9Y3E6	In_Frame_Del	DEL	pfam_DUF846_euk	p.L72in_frame_del	ENST00000307767.8	37	c.208_210	CCDS42274.1	17																																																																																			TVP23B	-	pfam_DUF846_euk	ENSG00000171928		0.325	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TVP23B	HGNC	protein_coding	OTTHUMT00000130667.2		0.00	82	0	TTG	NM_016078		18694323	+1	tier1		no_errors	ENST00000307767	ensembl	human	known	74_37	in_frame_del	25.00	84	28	DEL	1.000:1.000:0.999	-
TVP23C	201158	genome.wustl.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000584811.1_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T			Q3LIC7	Splice_Site	SNP	-	e5-2	ENST00000225576.3	37	c.162-2	CCDS11170.1	17	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.	TVP23C	-	-	ENSG00000175106		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	TVP23C	HGNC	protein_coding	OTTHUMT00000130705.2	-	0.00	42	0	C	NM_145301		15441469	-1	tier1	-	no_errors	ENST00000523573	ensembl	human	known	74_37	splice_site	27.27	80	30	SNP	0.998	T
UBA6	55236	genome.wustl.edu	37	4	68499110	68499110	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:68499110A>G	ENST00000322244.5	-	23	2154	c.2095T>C	c.(2095-2097)Tgt>Cgt	p.C699R		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	699					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AATTCTACACACTGGGACCAA	0.333																																																	0													96.0	102.0	100.0					4																	68499110		2203	4300	6503	SO:0001583	missense	0			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2095T>C	4.37:g.68499110A>G	ENSP00000313454:p.Cys699Arg		A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.C699R	ENST00000322244.5	37	c.2095	CCDS3516.1	4	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168420	0.78339	.	.	ENSG00000033178	ENST00000322244	T	0.69175	-0.38	5.3	5.3	0.74995	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	D	0.84795	0.5551	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88269	0.2928	10	0.87932	D	0	-1.8855	15.2479	0.73521	1.0:0.0:0.0:0.0	.	699	A0AVT1	UBA6_HUMAN	R	699	ENSP00000313454:C699R	ENSP00000313454:C699R	C	-	1	0	UBA6	68181705	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.460000	0.90369	2.010000	0.58986	0.377000	0.23210	TGT	UBA6	-	superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	ENSG00000033178		0.333	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	HGNC	protein_coding	OTTHUMT00000251429.2	-	0.00	32	0	A	NM_018227		68499110	-1	tier1	-	no_errors	ENST00000322244	ensembl	human	known	74_37	missense	23.81	32	10	SNP	1.000	G
UBAP1	51271	genome.wustl.edu	37	9	34241819	34241819	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:34241819C>A	ENST00000297661.4	+	4	1031	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	UBAP1_ENST00000379186.4_Missense_Mutation_p.L266M|UBAP1_ENST00000540348.1_Missense_Mutation_p.L266M|UBAP1_ENST00000543944.1_Missense_Mutation_p.L302M|UBAP1_ENST00000359544.2_Missense_Mutation_p.L266M|UBAP1_ENST00000545103.1_Missense_Mutation_p.L330M|UBAP1_ENST00000536252.1_Missense_Mutation_p.L266M	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	266					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			TATCAAATCCCTGTCTTTCCC	0.488																																					NSCLC(109;1074 1634 14978 20375 39620)												0													93.0	81.0	85.0					9																	34241819		2203	4300	6503	SO:0001583	missense	0			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.796C>A	9.37:g.34241819C>A	ENSP00000297661:p.Leu266Met		B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	p.L330M	ENST00000297661.4	37	c.988	CCDS6550.1	9	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766262	0.69878	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.69040	-0.32;-0.37;-0.25;-0.25;-0.25;0.25;-0.25	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	M	0.63843	1.955	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79254	-0.1879	10	0.41790	T	0.15	-22.846	15.6259	0.76855	0.0:0.9347:0.0:0.0653	.	330;302;330;266	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	M	330;302;266;266;266;266;266	ENSP00000441024:L330M;ENSP00000439806:L302M;ENSP00000440456:L266M;ENSP00000439976:L266M;ENSP00000297661:L266M;ENSP00000368484:L266M;ENSP00000352541:L266M	ENSP00000297661:L266M	L	+	1	2	UBAP1	34231819	0.980000	0.34600	0.999000	0.59377	0.996000	0.88848	2.481000	0.45215	1.634000	0.50500	0.655000	0.94253	CTG	UBAP1	-	NULL	ENSG00000165006		0.488	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP1	HGNC	protein_coding	OTTHUMT00000001084.1	-	0.00	41	0	C			34241819	+1	tier1	-	no_errors	ENST00000545103	ensembl	human	known	74_37	missense	50.91	27	28	SNP	1.000	A
UBBP4	23666	genome.wustl.edu	37	17	21731488	21731489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:21731488_21731489insC	ENST00000578713.1	+	2	567_568	c.563_564insC	c.(562-567)atccccfs	p.IP188fs	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GAAGAAGGCATCCCCCCCGATC	0.535																																																	0																																										SO:0001589	frameshift_variant	0			X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.570dupC	17.37:g.21731495_21731495dupC	ENSP00000464265:p.Ile188fs			Frame_Shift_Ins	INS	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.D191fs	ENST00000578713.1	37	c.563_564		17																																																																																			UBBP4	-	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	ENSG00000263563		0.535	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	UBBP4	HGNC	protein_coding	OTTHUMT00000444589.2		0.00	64	0	-			21731489	+1	tier1		no_errors	ENST00000578713	ensembl	human	putative	74_37	frame_shift_ins	12.66	69	10	INS	1.000:1.000	C
UBE2E1	7324	genome.wustl.edu	37	3	23848848	23848850	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:23848848_23848850delAAG	ENST00000306627.3	+	2	307_309	c.88_90delAAG	c.(88-90)aagdel	p.K32del	UBE2E1_ENST00000346855.3_In_Frame_Del_p.K32del|UBE2E1-AS1_ENST00000426702.1_RNA	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|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 K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						AAACACCCCCAAGAAGAAGGAGA	0.498																																																	0									,	0,4266		0,0,2133					,	3.6	1.0			129	1,8253		0,1,4126	no	coding,coding	UBE2E1	NM_182666.2,NM_003341.4	,	0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12519				SO:0001651	inframe_deletion	0			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"""Ubiquitin-conjugating enzymes E2"""	12477	protein-coding gene	gene with protein product		602916	"""ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"""			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.88_90delAAG	3.37:g.23848854_23848856delAAG	ENSP00000303709:p.Lys32del		B2RBX4|C9J8K2|K4DI90	In_Frame_Del	DEL	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.K32in_frame_del	ENST00000306627.3	37	c.88_90	CCDS2638.1	3																																																																																			UBE2E1	-	NULL	ENSG00000170142		0.498	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2E1	HGNC	protein_coding	OTTHUMT00000252882.2		0.00	50	0	AAG	NM_003341		23848850	+1	tier1		no_errors	ENST00000306627	ensembl	human	known	74_37	in_frame_del	46.34	22	19	DEL	1.000:1.000:1.000	-
UBE2E1	7324	genome.wustl.edu	37	3	23848850	23848850	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:23848850G>C	ENST00000306627.3	+	2	309	c.90G>C	c.(88-90)aaG>aaC	p.K30N	UBE2E1_ENST00000346855.3_Missense_Mutation_p.K30N|UBE2E1-AS1_ENST00000426702.1_RNA	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	30					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|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 K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						ACACCCCCAAGAAGAAGGAGA	0.498																																																	0													130.0	134.0	133.0					3																	23848850		2203	4300	6503	SO:0001583	missense	0			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"""Ubiquitin-conjugating enzymes E2"""	12477	protein-coding gene	gene with protein product		602916	"""ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"""			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.90G>C	3.37:g.23848850G>C	ENSP00000303709:p.Lys30Asn		B2RBX4|C9J8K2|K4DI90	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.K30N	ENST00000306627.3	37	c.90	CCDS2638.1	3	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813299	0.32053	.	.	ENSG00000170142	ENST00000306627;ENST00000346855;ENST00000442670	T;T;T	0.55760	0.5;1.39;0.5	4.49	3.61	0.41365	Ubiquitin-conjugating enzyme/RWD-like (1);	4.811140	0.00610	N	0.000416	T	0.45935	0.1367	N	0.19112	0.55	0.80722	D	1	B;B	0.25904	0.137;0.137	B;B	0.23716	0.016;0.048	T	0.08472	-1.0720	10	0.66056	D	0.02	.	13.1686	0.59585	0.0797:0.0:0.9203:0.0	.	30;30	C9J2P0;P51965	.;UB2E1_HUMAN	N	30	ENSP00000303709:K30N;ENSP00000329113:K30N;ENSP00000410652:K30N	ENSP00000303709:K30N	K	+	3	2	UBE2E1	23823854	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	5.616000	0.67709	1.190000	0.43042	0.561000	0.74099	AAG	UBE2E1	-	NULL	ENSG00000170142		0.498	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2E1	HGNC	protein_coding	OTTHUMT00000252882.2		0.00	50	0	G	NM_003341		23848850	+1			no_errors	ENST00000306627	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	C
UBE2K	3093	genome.wustl.edu	37	4	39780194	39780194	+	3'UTR	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:39780194delA	ENST00000261427.5	+	0	1027				UBE2K_ENST00000295963.6_3'UTR|UBE2K_ENST00000445950.2_3'UTR|UBE2K_ENST00000503368.1_3'UTR|UBE2K_ENST00000438068.2_3'UTR	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K						intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						TTGGAGACTGAAAAAAAAAAA	0.299																																					NSCLC(101;689 1592 16105 29682 31745)												0																																										SO:0001624	3_prime_UTR_variant	0			U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"""Ubiquitin-conjugating enzymes E2"""	4914	protein-coding gene	gene with protein product		602846	"""huntingtin interacting protein 2"", ""ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"""	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.*140A>-	4.37:g.39780194delA			A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	RNA	DEL	-	NULL	ENST00000261427.5	37	NULL	CCDS33976.1	4																																																																																			UBE2K	-	-	ENSG00000078140		0.299	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2K	HGNC	protein_coding	OTTHUMT00000361061.1		0.00	31	0	A	NM_005339		39780194	+1	tier1		no_errors	ENST00000438068	ensembl	human	known	74_37	rna	62.50	15	25	DEL	0.844	-
UBR4	23352	genome.wustl.edu	37	1	19441999	19441999	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:19441999C>A	ENST00000375254.3	-	74	10983	c.10956G>T	c.(10954-10956)caG>caT	p.Q3652H	UBR4_ENST00000375218.3_Missense_Mutation_p.Q67H|UBR4_ENST00000375267.2_Missense_Mutation_p.Q3652H|UBR4_ENST00000375217.2_Missense_Mutation_p.Q3645H|UBR4_ENST00000375226.2_Missense_Mutation_p.Q3628H	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3652					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGTGGAGGCCTGGTAGTTTT	0.547																																																	0													110.0	111.0	111.0					1																	19441999		2203	4300	6503	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10956G>T	1.37:g.19441999C>A	ENSP00000364403:p.Gln3652His		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.Q3652H	ENST00000375254.3	37	c.10956	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257936	0.39896	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375218	T;T;T;T	0.26957	1.7;1.7;1.73;1.73	5.69	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	L	0.46157	1.445	0.80722	D	1	B;D	0.57571	0.002;0.98	B;D	0.66979	0.006;0.948	T	0.08166	-1.0735	10	0.38643	T	0.18	.	10.797	0.46466	0.0:0.8457:0.0:0.1543	.	67;3652	Q5T4S7-6;Q5T4S7	.;UBR4_HUMAN	H	3652;3652;3645;3628;67	ENSP00000364403:Q3652H;ENSP00000364416:Q3652H;ENSP00000364365:Q3645H;ENSP00000364374:Q3628H	ENSP00000364365:Q3645H	Q	-	3	2	UBR4	19314586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.480000	0.45206	1.415000	0.47037	0.655000	0.94253	CAG	UBR4	-	NULL	ENSG00000127481		0.547	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0.00	28	0	C	NM_020765		19441999	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	missense	64.29	15	27	SNP	1.000	A
UBR5	51366	genome.wustl.edu	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:103289349delT	ENST00000520539.1	-	45	6966	c.6360delA	c.(6358-6360)aaafs	p.K2120fs	UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2120					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCCCCTTCTTTTTTTTGCC	0.378																																					Ovarian(131;96 1741 5634 7352 27489)												2	Deletion - Frameshift(2)	breast(1)|kidney(1)											137.0	130.0	132.0					8																	103289349		2203	4300	6503	SO:0001589	frameshift_variant	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6360delA	8.37:g.103289349delT	ENSP00000429084:p.Lys2120fs		B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Del	DEL	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.E2121fs	ENST00000520539.1	37	c.6360	CCDS34933.1	8																																																																																			UBR5	-	NULL	ENSG00000104517		0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2		0.00	106	0	T	NM_015902		103289349	-1	tier1		no_errors	ENST00000520539	ensembl	human	known	74_37	frame_shift_del	21.84	204	57	DEL	0.987	-
UCK2	7371	genome.wustl.edu	37	1	165877338	165877338	+	3'UTR	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:165877338delA	ENST00000367879.4	+	0	1367				UCK2_ENST00000372212.4_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2						cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATATATATATAAAAAAGGATC	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.*278A>-	1.37:g.165877338delA			Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	RNA	DEL	-	NULL	ENST00000367879.4	37	NULL	CCDS1252.1	1																																																																																			UCK2	-	-	ENSG00000143179		0.343	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCK2	HGNC	protein_coding	OTTHUMT00000096753.1		0.00	8	0	A	NM_012474		165877338	+1	tier1		no_errors	ENST00000463772	ensembl	human	known	74_37	rna	30.77	9	4	DEL	0.018	-
UGGT1	56886	genome.wustl.edu	37	2	128900742	128900742	+	Silent	SNP	G	G	A	rs548464056		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:128900742G>A	ENST00000259253.6	+	17	1841	c.1794G>A	c.(1792-1794)ccG>ccA	p.P598P	UGGT1_ENST00000375990.3_Silent_p.P574P	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	598					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAAATATCCGTATGTAGAAG	0.353																																																	0													183.0	177.0	179.0					2																	128900742		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1794G>A	2.37:g.128900742G>A			Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	pfam_UDP-g_GGtrans	p.P598	ENST00000259253.6	37	c.1794	CCDS2154.1	2																																																																																			UGGT1	-	NULL	ENSG00000136731		0.353	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0.00	71	0	G	NM_020120		128900742	+1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	silent	27.18	75	28	SNP	0.084	A
UMOD	7369	genome.wustl.edu	37	16	20352508	20352508	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:20352508G>A	ENST00000570689.1	-	7	1628	c.1482C>T	c.(1480-1482)ggC>ggT	p.G494G	UMOD_ENST00000396142.2_Silent_p.G494G|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000302509.4_Silent_p.G494G|UMOD_ENST00000424589.1_Silent_p.G527G|UMOD_ENST00000396134.2_Silent_p.G527G|UMOD_ENST00000396138.4_Silent_p.G543G			P07911	UROM_HUMAN	uromodulin	494	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGACAGGTCGCCCCCATCCA	0.572																																																	0													109.0	85.0	93.0					16																	20352508		2203	4300	6503	SO:0001819	synonymous_variant	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1482C>T	16.37:g.20352508G>A			B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.G527	ENST00000570689.1	37	c.1581	CCDS10583.1	16																																																																																			UMOD	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000169344		0.572	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	-	0.00	34	0	G			20352508	-1	tier1	-	no_errors	ENST00000424589	ensembl	human	known	74_37	silent	48.61	37	35	SNP	0.002	A
UNC93B1	81622	genome.wustl.edu	37	11	67766770	67766770	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:67766770G>A	ENST00000227471.2	-	5	639	c.560C>T	c.(559-561)gCg>gTg	p.A187V	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	187					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											GTACTTCTGCGCCATCCTGGA	0.637																																																	0													33.0	38.0	36.0					11																	67766770		2046	4181	6227	SO:0001583	missense	0			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.560C>T	11.37:g.67766770G>A	ENSP00000227471:p.Ala187Val		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.A187V	ENST00000227471.2	37	c.560		11	.	.	.	.	.	.	.	.	.	.	.	18.72	3.684507	0.68157	.	.	ENSG00000110057	ENST00000227471;ENST00000528423	T;T	0.39787	1.06;1.06	4.89	4.89	0.63831	.	0.303789	0.35291	N	0.003312	T	0.54287	0.1849	.	.	.	0.45648	D	0.998574	D	0.54397	0.966	P	0.51355	0.667	T	0.60831	-0.7185	9	0.72032	D	0.01	-9.7883	16.9872	0.86342	0.0:0.0:1.0:0.0	.	187	Q9H1C4	UN93B_HUMAN	V	187;116	ENSP00000227471:A187V;ENSP00000437195:A116V	ENSP00000227471:A187V	A	-	2	0	UNC93B1	67523346	1.000000	0.71417	0.904000	0.35570	0.361000	0.29550	8.699000	0.91316	2.413000	0.81919	0.561000	0.74099	GCG	UNC93B1	-	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	ENSG00000110057		0.637	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding		-	0.00	37	0	G	NM_030930		67766770	-1	tier1	-	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	27.40	53	20	SNP	1.000	A
UPF1	5976	genome.wustl.edu	37	19	18967000	18967000	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:18967000C>A	ENST00000599848.1	+	13	1957	c.1748C>A	c.(1747-1749)cCt>cAt	p.P583H	UPF1_ENST00000262803.5_Missense_Mutation_p.P572H			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	583					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCCAGCATGCCTGAGCTGCAG	0.602																																																	0													50.0	48.0	49.0					19																	18967000		2203	4300	6503	SO:0001583	missense	0			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1748C>A	19.37:g.18967000C>A	ENSP00000470142:p.Pro583His		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase	p.P583H	ENST00000599848.1	37	c.1748		19	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946321	0.53079	.	.	ENSG00000005007	ENST00000262803	D	0.81996	-1.56	4.29	4.29	0.51040	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	T	0.78304	0.4262	L	0.43757	1.38	0.80722	D	1	B;B	0.18741	0.03;0.012	B;B	0.17098	0.017;0.017	T	0.75602	-0.3261	10	0.44086	T	0.13	-22.1753	16.0865	0.81056	0.0:1.0:0.0:0.0	.	583;572	Q92900;Q92900-2	RENT1_HUMAN;.	H	572	ENSP00000262803:P572H	ENSP00000262803:P572H	P	+	2	0	UPF1	18828000	1.000000	0.71417	0.956000	0.39512	0.929000	0.56500	7.245000	0.78237	2.102000	0.63906	0.655000	0.94253	CCT	UPF1	-	pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase	ENSG00000005007		0.602	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	-	0.00	53	0	C	NM_002911		18967000	+1	tier1	-	no_errors	ENST00000599848	ensembl	human	known	74_37	missense	61.82	21	34	SNP	1.000	A
UPF2	26019	genome.wustl.edu	37	10	12070974	12070974	+	Silent	SNP	G	G	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:12070974G>C	ENST00000356352.2	-	2	1388	c.915C>G	c.(913-915)gtC>gtG	p.V305V	UPF2_ENST00000397053.2_Silent_p.V305V|UPF2_ENST00000357604.5_Silent_p.V305V			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	305	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCACTACAGAGACATGAGTGT	0.378																																																	0													88.0	85.0	86.0					10																	12070974		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.915C>G	10.37:g.12070974G>C			A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.V305	ENST00000356352.2	37	c.915	CCDS7086.1	10																																																																																			UPF2	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000151461		0.378	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	-	0.00	20	0	G			12070974	-1	tier1	-	no_errors	ENST00000356352	ensembl	human	known	74_37	silent	57.69	11	15	SNP	0.998	C
UPF3A	65110	genome.wustl.edu	37	13	115057211	115057211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:115057211delA	ENST00000375299.3	+	7	846	c.790delA	c.(790-792)aaafs	p.K266fs	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Frame_Shift_Del_p.K233fs	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	266					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		agaaagatgcaaaaaaaaaga	0.363																																																	0									,	20,35,4205		1,0,18,1,33,2077	38.0	39.0	39.0		,	-1.8	0.0	13		39	41,44,8143		3,0,35,0,44,4032	no	codingComplex,codingComplex	UPF3A	NM_080687.2,NM_023011.3	,	4,0,53,1,77,6109	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0331,1.2911,1.1211	,	,	115057211	61,79,12348	2200	4295	6495	SO:0001589	frameshift_variant	0			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.790delA	13.37:g.115057211delA	ENSP00000364448:p.Lys266fs		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Frame_Shift_Del	DEL	pfam_Nonsense_mediated_decay_UPF3	p.E267fs	ENST00000375299.3	37	c.790	CCDS9543.1	13																																																																																			UPF3A	-	NULL	ENSG00000169062		0.363	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	HGNC	protein_coding	OTTHUMT00000045968.2		0.00	38	0	A			115057211	+1			no_errors	ENST00000375299	ensembl	human	known	74_37	frame_shift_del	34.21	25	13	DEL	0.943	0
USF2	7392	genome.wustl.edu	37	19	35770659	35770659	+	3'UTR	DEL	A	A	-	rs567969904|rs551671278	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:35770659delA	ENST00000222305.3	+	0	1578				USF2_ENST00000595068.1_3'UTR|HAMP_ENST00000598398.1_5'Flank|USF2_ENST00000600341.1_3'UTR|HAMP_ENST00000222304.3_5'Flank|USF2_ENST00000343550.5_3'UTR	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting						lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AAAAATTGACAAAAAAAAAAT	0.493																																					NSCLC(103;173 2832 8890)												0																																										SO:0001624	3_prime_UTR_variant	0			AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"""Basic helix-loop-helix proteins"""	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.*500A>-	19.37:g.35770659delA			O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	RNA	DEL	-	NULL	ENST00000222305.3	37	NULL	CCDS12452.1	19																																																																																			USF2	-	-	ENSG00000105698		0.493	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	USF2	HGNC	protein_coding	OTTHUMT00000466056.1		0.00	30	0	A	NM_003367		35770659	+1	tier1		no_errors	ENST00000600341	ensembl	human	known	74_37	rna	40.00	12	8	DEL	0.089	-
USP24	23358	genome.wustl.edu	37	1	55591178	55591178	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:55591178C>T	ENST00000294383.6	-	34	3774	c.3775G>A	c.(3775-3777)Gac>Aac	p.D1259N	USP24_ENST00000407756.1_Missense_Mutation_p.D1099N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1259					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTGGTGAGGTCTTCATCTAAT	0.403																																																	0													137.0	132.0	133.0					1																	55591178		1925	4124	6049	SO:0001583	missense	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.3775G>A	1.37:g.55591178C>T	ENSP00000294383:p.Asp1259Asn		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.D1099N	ENST00000294383.6	37	c.3295	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340797	0.60963	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.20738	2.05;2.05	5.37	5.37	0.77165	.	0.291050	0.37136	N	0.002226	T	0.11537	0.0281	N	0.08118	0	0.58432	D	0.999995	P	0.37525	0.598	B	0.31751	0.135	T	0.20706	-1.0267	10	0.18276	T	0.48	.	19.0961	0.93251	0.0:1.0:0.0:0.0	.	1099	B7WPF4	.	N	1259;1099	ENSP00000294383:D1259N;ENSP00000385700:D1099N	ENSP00000294383:D1259N	D	-	1	0	USP24	55363766	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.515000	0.84797	0.467000	0.42956	GAC	USP24	-	NULL	ENSG00000162402		0.403	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	-	0.00	49	0	C			55591178	-1	tier1	-	no_errors	ENST00000407756	ensembl	human	known	74_37	missense	48.21	29	27	SNP	1.000	T
CCDC144A	9720	genome.wustl.edu	37	17	16703311	16703312	+	3'UTR	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:16703311_16703312insA	ENST00000443444.2	+	0	6250_6251				RP11-219A15.4_ENST00000602730.1_RNA|USP32P1_ENST00000393005.2_RNA|RP11-219A15.1_ENST00000448331.3_3'UTR			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		GTCCCTCCAGCAAAAACAGCAG	0.475																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000443444.2:c.*1827->A	17.37:g.16703316_16703316dupA			O60311|Q6ZU57	RNA	INS	-	NULL	ENST00000443444.2	37	NULL	CCDS45621.1	17																																																																																			USP32P1	-	-	ENSG00000188933		0.475	CCDC144A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP32P1	HGNC	protein_coding			0.00	123	0	0			16703312	+1			no_errors	ENST00000341745	ensembl	human	known	74_37	rna	5.85	193	12	INS	1.000:1.000	A
USP35	57558	genome.wustl.edu	37	11	77911710	77911710	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:77911710delC	ENST00000529308.1	+	6	1314	c.1053delC	c.(1051-1053)atcfs	p.I351fs	USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Frame_Shift_Del_p.I82fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	351					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCCCTCACATCCCCCCCATGG	0.657																																																	0										2,3896		1,0,1948	43.0	49.0	47.0			4.8	1.0	11		48	28,7934		13,2,3966	no	frameshift	USP35	NM_020798.2		14,2,5914	A1A1,A1R,RR		0.3517,0.0513,0.253			77911710	30,11830	2066	4174	6240	SO:0001589	frameshift_variant	0			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1053delC	11.37:g.77911710delC	ENSP00000431876:p.Ile351fs			Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.M354fs	ENST00000529308.1	37	c.1053	CCDS41693.1	11																																																																																			USP35	-	superfamily_ARM-type_fold	ENSG00000118369		0.657	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1		0.00	34	0	C	XM_290527		77911710	+1	tier1		no_errors	ENST00000529308	ensembl	human	known	74_37	frame_shift_del	48.05	40	37	DEL	0.969	-
USP43	124739	genome.wustl.edu	37	17	9578294	9578294	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:9578294A>G	ENST00000285199.7	+	4	923	c.827A>G	c.(826-828)cAg>cGg	p.Q276R	USP43_ENST00000570475.1_Missense_Mutation_p.Q276R|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	276	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCCTTGCGCCAGACGAGGTAC	0.537																																																	0													260.0	252.0	255.0					17																	9578294		2066	4200	6266	SO:0001583	missense	0			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.827A>G	17.37:g.9578294A>G	ENSP00000285199:p.Gln276Arg		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.Q276R	ENST00000285199.7	37	c.827	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016161	0.75161	.	.	ENSG00000154914	ENST00000285199	T	0.02737	4.18	4.46	4.46	0.54185	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.083433	0.50627	U	0.000109	T	0.08891	0.0220	L	0.43598	1.365	0.51012	D	0.999907	D;P	0.89917	1.0;0.599	D;P	0.87578	0.998;0.57	T	0.37174	-0.9717	10	0.30078	T	0.28	-15.582	11.7089	0.51614	1.0:0.0:0.0:0.0	.	276;276	B7ZVX5;Q70EL4	.;UBP43_HUMAN	R	276	ENSP00000285199:Q276R	ENSP00000285199:Q276R	Q	+	2	0	USP43	9519019	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.420000	0.90256	1.668000	0.50843	0.460000	0.39030	CAG	USP43	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000154914		0.537	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	-	0.00	64	0	A	NM_153210		9578294	+1	tier1	-	no_errors	ENST00000285199	ensembl	human	known	74_37	missense	42.86	68	51	SNP	1.000	G
USP54	159195	genome.wustl.edu	37	10	75277223	75277225	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	ATG	ATG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:75277223_75277225delATG	ENST00000339859.4	-	19	3059_3061	c.2959_2961delCAT	c.(2959-2961)catdel	p.H987del	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_In_Frame_Del_p.H837del|USP54_ENST00000408019.1_In_Frame_Del_p.H987del|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000422491.2_In_Frame_Del_p.H169del|USP54_ENST00000394811.2_In_Frame_Del_p.H75del			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	987					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCTCCCAACTATGATGAGAATTC	0.502																																					Colon(195;880 2046 8854 25025 38456)												0																																										SO:0001651	inframe_deletion	0			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2959_2961delCAT	10.37:g.75277226_75277228delATG	ENSP00000345216:p.His987del		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	In_Frame_Del	DEL	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.H987in_frame_del	ENST00000339859.4	37	c.2961_2959	CCDS7329.2	10																																																																																			USP54	-	NULL	ENSG00000166348		0.502	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2		0.00	48	0	ATG	NM_152586		75277225	-1	tier1		no_errors	ENST00000339859	ensembl	human	known	74_37	in_frame_del	16.46	66	13	DEL	0.001:0.002:0.000	-
USP6NL	9712	genome.wustl.edu	37	10	11504795	11504795	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:11504795G>A	ENST00000609104.1	-	15	2526	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L	USP6NL_ENST00000379237.2_Missense_Mutation_p.S734L|USP6NL_ENST00000277575.5_Missense_Mutation_p.S728L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	711					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TGAATTGCCCGAATATCCCCC	0.473																																																	0													52.0	52.0	52.0					10																	11504795		1880	4115	5995	SO:0001583	missense	0			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2132C>T	10.37:g.11504795G>A	ENSP00000476462:p.Ser711Leu		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S734L	ENST00000609104.1	37	c.2201	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	G	6.090	0.384968	0.11524	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04360	3.64;3.65	5.11	3.26	0.37387	.	0.599202	0.14917	N	0.290886	T	0.03263	0.0095	L	0.31664	0.95	0.09310	N	1	B;P	0.44260	0.041;0.83	B;B	0.31495	0.003;0.131	T	0.44513	-0.9323	10	0.39692	T	0.17	.	8.7453	0.34583	0.2315:0.0:0.7685:0.0	.	711;728	Q92738;Q92738-2	US6NL_HUMAN;.	L	711;728;711	ENSP00000277575:S728L;ENSP00000368539:S711L	ENSP00000277575:S728L	S	-	2	0	USP6NL	11544801	0.074000	0.21230	0.060000	0.19600	0.113000	0.19764	1.845000	0.39279	0.574000	0.29417	0.561000	0.74099	TCG	USP6NL	-	NULL	ENSG00000148429		0.473	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3	-	0.00	30	0	G	NM_014688		11504795	-1	tier1	-	no_errors	ENST00000379237	ensembl	human	known	74_37	missense	62.50	9	15	SNP	0.020	A
USP7	7874	genome.wustl.edu	37	16	8997206	8997206	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:8997206T>A	ENST00000344836.4	-	16	1956	c.1758A>T	c.(1756-1758)gaA>gaT	p.E586D	USP7_ENST00000535863.1_Missense_Mutation_p.E487D|USP7_ENST00000381886.4_Missense_Mutation_p.E570D	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	586					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCACTTTTTCTTCATCGTACA	0.443																																																	0													149.0	123.0	132.0					16																	8997206		2197	4300	6497	SO:0001583	missense	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1758A>T	16.37:g.8997206T>A	ENSP00000343535:p.Glu586Asp		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.E586D	ENST00000344836.4	37	c.1758	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756059	0.31137	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.06849	3.25;3.25	5.35	0.63	0.17693	.	0.000000	0.85682	D	0.000000	T	0.03695	0.0105	N	0.08118	0	0.58432	D	0.999991	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.48906	-0.8993	10	0.26408	T	0.33	.	7.9375	0.29939	0.0:0.3265:0.0:0.6735	.	586;570	Q93009;B7Z815	UBP7_HUMAN;.	D	586;594;487;487	ENSP00000343535:E586D;ENSP00000443646:E487D	ENSP00000343535:E586D	E	-	3	2	USP7	8904707	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	0.863000	0.27913	-0.155000	0.11098	0.374000	0.22700	GAA	USP7	-	NULL	ENSG00000187555		0.443	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	-	0.00	23	0	T			8997206	-1	tier1	-	no_errors	ENST00000344836	ensembl	human	known	74_37	missense	33.33	22	11	SNP	1.000	A
UTP11L	51118	genome.wustl.edu	37	1	38483297	38483297	+	Intron	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:38483297delT	ENST00000373014.4	+	3	186				UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Intron	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)						nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				aaattatctattttttttttt	0.328																																																	0													11.0	14.0	13.0					1																	38483297		2064	4250	6314	SO:0001627	intron_variant	0			AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.126-43T>-	1.37:g.38483297delT			A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	RNA	DEL	-	NULL	ENST00000373014.4	37	NULL	CCDS429.1	1																																																																																			UTP11L	-	-	ENSG00000183520		0.328	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP11L	HGNC	protein_coding	OTTHUMT00000012962.1		0.00	28	0	T	NM_016037		38483297	+1	tier1		no_errors	ENST00000488453	ensembl	human	known	74_37	rna	31.03	20	9	DEL	0.012	-
UTP14C	9724	genome.wustl.edu	37	13	52604834	52604834	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:52604834G>A	ENST00000521776.2	+	2	2627	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	632					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGGCTGGGGCGAGTGGGGTGG	0.517																																																	0													71.0	83.0	79.0					13																	52604834		2203	4298	6501	SO:0001583	missense	0			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1894G>A	13.37:g.52604834G>A	ENSP00000428619:p.Glu632Lys		Q5FWG3|Q92555	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.E632K	ENST00000521776.2	37	c.1894	CCDS31978.1	13	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014675	0.35511	.	.	ENSG00000253797	ENST00000521776	T	0.18016	2.24	2.9	1.06	0.20224	.	0.245363	0.46145	D	0.000301	T	0.18841	0.0452	M	0.80982	2.52	0.49915	D	0.999838	B	0.24533	0.105	B	0.24269	0.052	T	0.03231	-1.1058	9	.	.	.	-16.0497	6.7654	0.23564	0.2688:0.0:0.7312:0.0	.	632	Q5TAP6	UT14C_HUMAN	K	632	ENSP00000428619:E632K	.	E	+	1	0	UTP14C	51502835	0.998000	0.40836	0.989000	0.46669	0.606000	0.37113	3.127000	0.50484	0.549000	0.28973	0.455000	0.32223	GAG	UTP14C	-	pfam_SSU_processome_Utp14	ENSG00000253797		0.517	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP14C	HGNC	protein_coding	OTTHUMT00000045049.2	-	0.00	40	0	G	NM_021645		52604834	+1	tier1	-	no_errors	ENST00000521776	ensembl	human	known	74_37	missense	40.00	36	24	SNP	0.982	A
VAV2	7410	genome.wustl.edu	37	9	136726534	136726534	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:136726534C>T	ENST00000371850.3	-	3	373	c.342G>A	c.(340-342)agG>agA	p.R114R	VAV2_ENST00000371851.1_Silent_p.R114R|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000406606.3_Silent_p.R114R	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	114	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GCAGGGAGAGCCTCGACACCG	0.582																																																	0													83.0	76.0	78.0					9																	136726534		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.342G>A	9.37:g.136726534C>T			A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.R114	ENST00000371850.3	37	c.342	CCDS48053.1	9																																																																																			VAV2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000160293		0.582	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	-	0.00	23	0	C			136726534	-1	tier1	-	no_errors	ENST00000371850	ensembl	human	known	74_37	silent	35.71	18	10	SNP	0.233	T
VAX2	25806	genome.wustl.edu	37	2	71160174	71160174	+	Frame_Shift_Del	DEL	C	C	-	rs555134830	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:71160174delC	ENST00000234392.2	+	3	745	c.713delC	c.(712-714)tccfs	p.S238fs	snoU13_ENST00000459218.1_RNA|ATP6V1B1_ENST00000234396.4_5'Flank|ATP6V1B1_ENST00000412314.1_5'Flank	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	238					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GCCTCAGCGTCCCCCCCACTG	0.687																																																	0													23.0	26.0	25.0					2																	71160174		2203	4299	6502	SO:0001589	frameshift_variant	0			Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"""Homeoboxes / ANTP class : NKL subclass"""	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.713delC	2.37:g.71160174delC	ENSP00000234392:p.Ser238fs		Q53Y33	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.P240fs	ENST00000234392.2	37	c.713	CCDS1911.1	2																																																																																			VAX2	-	NULL	ENSG00000116035		0.687	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAX2	HGNC	protein_coding	OTTHUMT00000251923.1		0.00	26	0	C			71160174	+1	tier1		no_errors	ENST00000234392	ensembl	human	known	74_37	frame_shift_del	36.71	50	29	DEL	0.296	-
VCAM1	7412	genome.wustl.edu	37	1	101194932	101194932	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:101194932C>A	ENST00000294728.2	+	5	1299	c.1198C>A	c.(1198-1200)Ctc>Atc	p.L400I	VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.L338I	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	400					acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CCAGGTGGAGCTCTACTGTAA	0.403																																																	0													93.0	102.0	99.0					1																	101194932		2203	4300	6503	SO:0001583	missense	0			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1198C>A	1.37:g.101194932C>A	ENSP00000294728:p.Leu400Ile		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N	p.L400I	ENST00000294728.2	37	c.1198	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321285	0.23994	.	.	ENSG00000162692	ENST00000370119;ENST00000294728	T;T	0.07908	4.02;3.15	5.53	2.57	0.30868	Immunoglobulin-like fold (1);	0.482604	0.22018	N	0.065777	T	0.01489	0.0048	N	0.11651	0.15	0.28904	N	0.893084	P;P	0.44309	0.693;0.832	B;B	0.41236	0.234;0.351	T	0.45454	-0.9260	10	0.46703	T	0.11	-0.5608	6.0065	0.19549	0.1256:0.4195:0.3825:0.0725	.	338;400	E9PDD1;P19320	.;VCAM1_HUMAN	I	338;400	ENSP00000359137:L338I;ENSP00000294728:L400I	ENSP00000294728:L400I	L	+	1	0	VCAM1	100967520	0.016000	0.18221	0.303000	0.25071	0.839000	0.47603	0.046000	0.14035	0.408000	0.25621	0.655000	0.94253	CTC	VCAM1	-	smart_Ig_sub	ENSG00000162692		0.403	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	-	0.00	39	0	C	NM_001078		101194932	+1	tier1	-	no_errors	ENST00000294728	ensembl	human	known	74_37	missense	46.00	27	23	SNP	0.170	A
VEGFC	7424	genome.wustl.edu	37	4	177632776	177632777	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:177632776_177632777insGA	ENST00000280193.2	-	4	995_996	c.580_581insTC	c.(580-582)caafs	p.Q194fs	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	194					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTTGGGGCCTTGAGAGAGAGGC	0.361																																																	0																																										SO:0001589	frameshift_variant	0			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.579_580dupTC	4.37:g.177632783_177632784dupGA	ENSP00000280193:p.Gln194fs		B2R9Q8	Frame_Shift_Ins	INS	pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.Q194fs	ENST00000280193.2	37	c.581_580	CCDS43285.1	4																																																																																			VEGFC	-	pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	ENSG00000150630		0.361	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1		0.00	45	0	-	NM_005429		177632777	-1	tier1		no_errors	ENST00000280193	ensembl	human	known	74_37	frame_shift_ins	25.93	40	14	INS	1.000:1.000	GA
VPS13C	54832	genome.wustl.edu	37	15	62202414	62202414	+	Nonsense_Mutation	SNP	G	G	A	rs148074630		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:62202414G>A	ENST00000261517.5	-	64	8879	c.8806C>T	c.(8806-8808)Cga>Tga	p.R2936*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.R2936*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.R2893*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.R2893*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTATCCTGTCGGTTATAAAAG	0.299																																																	0								G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	47.0	47.0	47.0		8806,8677,8677,8806	2.7	0.4	15	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	VPS13C	NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	2936/3629,2893/3711,2893/3586,2936/3754	62202414	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8806C>T	15.37:g.62202414G>A	ENSP00000261517:p.Arg2936*			Nonsense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.R2936*	ENST00000261517.5	37	c.8806	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	50	16.144693	0.99855	0.0	1.16E-4	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.85	2.69	0.31865	.	0.583473	0.18001	N	0.154914	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	14.054	0.64756	0.0:0.0:0.4878:0.5122	.	.	.	.	X	2893;2936;2936;2936	.	ENSP00000249837:R2893X	R	-	1	2	VPS13C	59989706	0.127000	0.22367	0.374000	0.26016	0.988000	0.76386	0.791000	0.26915	0.735000	0.32537	0.655000	0.94253	CGA	VPS13C	-	pfam_VPSAP_dom	ENSG00000129003		0.299	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	-	0.00	19	0	G	NM_017684		62202414	-1	tier1	rs148074630	no_errors	ENST00000261517	ensembl	human	known	74_37	nonsense	94.12	1	16	SNP	0.038	A
VPS9D1	9605	genome.wustl.edu	37	16	89777228	89777228	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:89777228C>T	ENST00000389386.3	-	10	1148	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Missense_Mutation_p.A272T|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	342					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										CGCGGGGCTGCGCTGGGCTCG	0.751																																																	0													2.0	2.0	2.0					16																	89777228		1373	3167	4540	SO:0001583	missense	0			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1024G>A	16.37:g.89777228C>T	ENSP00000374037:p.Ala342Thr			Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.A342T	ENST00000389386.3	37	c.1024	CCDS42220.1	16	.	.	.	.	.	.	.	.	.	.	C	4.465	0.086119	0.08583	.	.	ENSG00000075399	ENST00000389386;ENST00000261625	.	.	.	3.82	-2.33	0.06724	.	1.360170	0.04842	N	0.440655	T	0.28499	0.0705	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18871	-1.0323	9	0.33940	T	0.23	.	5.7398	0.18087	0.0:0.2849:0.308:0.4071	.	342	Q9Y2B5	CP007_HUMAN	T	342;373	.	ENSP00000261625:A373T	A	-	1	0	C16orf7	88304729	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.203000	0.03019	-0.490000	0.06707	-0.459000	0.05422	GCA	VPS9D1	-	NULL	ENSG00000075399		0.751	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1	HGNC	protein_coding	OTTHUMT00000422508.1	-	0.00	15	0	C	NM_004913		89777228	-1	tier1	-	no_errors	ENST00000389386	ensembl	human	known	74_37	missense	45.16	16	14	SNP	0.005	T
VSTM2A	222008	genome.wustl.edu	37	7	54617880	54617880	+	Intron	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:54617880C>T	ENST00000407838.3	+	4	1040				VSTM2A_ENST00000402613.3_Intron|VSTM2A_ENST00000404951.1_Intron|VSTM2A_ENST00000402026.2_Silent_p.F216F|VSTM2A_ENST00000302287.3_Silent_p.F217F|VSTM2A_ENST00000498834.1_Intron	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A							extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			AAACCCATTTCGAGCCTTTTA	0.448																																																	0													38.0	36.0	37.0					7																	54617880		2202	4293	6495	SO:0001627	intron_variant	0			BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.634+17C>T	7.37:g.54617880C>T			A4D2E9|B5MC94	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.F216	ENST00000407838.3	37	c.648	CCDS5512.2	7																																																																																			VSTM2A	-	NULL	ENSG00000170419		0.448	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSTM2A	HGNC	protein_coding	OTTHUMT00000318694.1		0.00	12	0	C	NM_182546		54617880	+1			no_errors	ENST00000402026	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.999	T
WAPAL	23063	genome.wustl.edu	37	10	88195258	88195260	+	3'UTR	DEL	GTT	GTT	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GTT	GTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:88195258_88195260delGTT	ENST00000298767.5	-	0	6085_6087				WAPAL_ENST00000484070.1_5'UTR	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)						mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AAAACTTTTAGTTAAGTCAGCCT	0.365																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.*2042AAC>-	10.37:g.88195258_88195260delGTT			A7E2B5|Q5VSK5|Q8IX10|Q92549	RNA	DEL	-	NULL	ENST00000298767.5	37	NULL	CCDS7375.1	10																																																																																			WAPAL	-	-	ENSG00000062650		0.365	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2		0.00	36	0	GTT	NM_015045		88195260	-1	tier1		no_errors	ENST00000484070	ensembl	human	known	74_37	rna	21.57	40	11	DEL	1.000:1.000:1.000	-
VTI1A	143187	genome.wustl.edu	37	10	114220329	114220329	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:114220329A>C	ENST00000393077.2	+	2	257	c.141A>C	c.(139-141)gaA>gaC	p.E47D	VTI1A_ENST00000432306.1_Missense_Mutation_p.E47D	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	47					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		AGCTTGAAGAAGCGAAAGAAC	0.333			T	TCF7L2	colorectal																																			Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	0													94.0	92.0	92.0					10																	114220329		2203	4300	6503	SO:0001583	missense	0			BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.141A>C	10.37:g.114220329A>C	ENSP00000376792:p.Glu47Asp		A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom	p.E47D	ENST00000393077.2	37	c.141	CCDS7575.2	10	.	.	.	.	.	.	.	.	.	.	A	18.92	3.726359	0.69074	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	.	.	.	5.11	2.76	0.32466	t-SNARE (1);Vesicle transport v-SNARE, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	L	0.56124	1.755	0.43242	D	0.995156	D;D	0.60160	0.97;0.987	P;D	0.63381	0.831;0.914	T	0.61840	-0.6980	9	0.49607	T	0.09	-57.9528	7.1633	0.25677	0.7766:0.0:0.2234:0.0	.	47;47	Q5W0D7;Q96AJ9	.;VTI1A_HUMAN	D	47	.	ENSP00000376792:E47D	E	+	3	2	VTI1A	114210319	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.601000	0.61090	0.781000	0.33589	0.533000	0.62120	GAA	VTI1A	-	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE	ENSG00000151532		0.333	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTI1A	HGNC	protein_coding	OTTHUMT00000050397.2	-	0.00	19	0	A			114220329	+1	tier1	-	no_errors	ENST00000393077	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	C
WASF3	10810	genome.wustl.edu	37	13	27256953	27256953	+	Missense_Mutation	SNP	C	C	T	rs373519573	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:27256953C>T	ENST00000335327.5	+	9	1371	c.1193C>T	c.(1192-1194)cCg>cTg	p.P398L	WASF3_ENST00000361042.4_Missense_Mutation_p.P395L	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	398	Poly-Pro.				actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCGCCACCCCCGGGCCCACCA	0.701													C|||	3	0.000599042	0.0	0.0014	5008	,	,		8518	0.001		0.0	False		,,,				2504	0.001																0								C	LEU/PRO	0,4406		0,0,2203	22.0	29.0	26.0		1193	4.8	0.3	13		26	1,8593		0,1,4296	no	missense	WASF3	NM_006646.5	98	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	398/503	27256953	1,12999	2203	4297	6500	SO:0001583	missense	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1193C>T	13.37:g.27256953C>T	ENSP00000335055:p.Pro398Leu		O94974|Q86VQ2	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P398L	ENST00000335327.5	37	c.1193	CCDS9318.1	13	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770086	0.49680	0.0	1.16E-4	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.62364	0.03;0.03	5.7	4.84	0.62591	.	0.199989	0.53938	D	0.000045	T	0.78898	0.4356	M	0.76002	2.32	0.80722	D	1	D;B	0.89917	1.0;0.269	D;B	0.87578	0.998;0.066	T	0.81274	-0.1007	10	0.59425	D	0.04	-15.9896	15.9152	0.79508	0.1365:0.8635:0.0:0.0	.	395;398	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	L	395;398	ENSP00000354325:P395L;ENSP00000335055:P398L	ENSP00000335055:P398L	P	+	2	0	WASF3	26154953	1.000000	0.71417	0.263000	0.24496	0.010000	0.07245	7.048000	0.76606	1.363000	0.46019	0.561000	0.74099	CCG	WASF3	-	NULL	ENSG00000132970		0.701	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	-	0.00	12	0	C			27256953	+1	tier1	-	no_errors	ENST00000335327	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.991	T
WBP2NL	164684	genome.wustl.edu	37	22	42399163	42399166	+	Intron	DEL	AAAA	AAAA	-	rs561360026	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:42399163_42399166delAAAA	ENST00000328823.9	+	1	93				WBP2NL_ENST00000461730.1_3'UTR	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like						egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						actccatctcaaaaaaaaaaaaaa	0.441																																																	0																																										SO:0001627	intron_variant	0			BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.62+4279AAAA>-	22.37:g.42399171_42399174delAAAA			A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	RNA	DEL	-	NULL	ENST00000328823.9	37	NULL	CCDS14029.1	22																																																																																			WBP2NL	-	-	ENSG00000183066		0.441	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP2NL	HGNC	protein_coding	OTTHUMT00000322037.1		0.00	51	0	AAAA	NM_152613		42399166	+1	tier1		no_errors	ENST00000461730	ensembl	human	known	74_37	rna	25.45	41	14	DEL	0.027:0.025:0.028:0.037	-
WDR19	57728	genome.wustl.edu	37	4	39230210	39230212	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAC	AAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:39230210_39230212delAAC	ENST00000399820.3	+	17	2036_2038	c.1882_1884delAAC	c.(1882-1884)aacdel	p.N629del	WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_In_Frame_Del_p.N469del	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	629					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TGGAAAAGTAAACAACATCTACC	0.433																																																	0																																										SO:0001651	inframe_deletion	0			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1882_1884delAAC	4.37:g.39230213_39230215delAAC	ENSP00000382717:p.Asn629del		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	In_Frame_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.N629in_frame_del	ENST00000399820.3	37	c.1882_1884	CCDS47042.1	4																																																																																			WDR19	-	NULL	ENSG00000157796		0.433	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1		0.00	41	0	AAC			39230212	+1	tier1		no_errors	ENST00000399820	ensembl	human	known	74_37	in_frame_del	8.43	76	7	DEL	1.000:1.000:1.000	-
WDFY3	23001	genome.wustl.edu	37	4	85658516	85658516	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:85658516C>T	ENST00000295888.4	-	41	6985	c.6578G>A	c.(6577-6579)cGt>cAt	p.R2193H	WDFY3_ENST00000322366.6_Missense_Mutation_p.R2193H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2193					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAGAAGCTGACGCCCTAGTaa	0.323																																																	0													61.0	60.0	60.0					4																	85658516		2203	4300	6503	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6578G>A	4.37:g.85658516C>T	ENSP00000295888:p.Arg2193His		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2193H	ENST00000295888.4	37	c.6578	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592526	0.66219	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64085	-0.08;-0.08	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	L	0.27053	0.805	0.80722	D	1	B	0.31256	0.316	B	0.16722	0.016	T	0.43734	-0.9373	10	0.12430	T	0.62	.	18.5904	0.91210	0.0:1.0:0.0:0.0	.	2193	Q8IZQ1	WDFY3_HUMAN	H	2193	ENSP00000318466:R2193H;ENSP00000295888:R2193H	ENSP00000295888:R2193H	R	-	2	0	WDFY3	85877540	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.463000	0.80869	2.392000	0.81423	0.563000	0.77884	CGT	WDFY3	-	NULL	ENSG00000163625		0.323	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0.00	23	0	C	NM_014991		85658516	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	missense	60.00	4	6	SNP	1.000	T
WDR7	23335	genome.wustl.edu	37	18	54348614	54348614	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:54348614G>A	ENST00000254442.3	+	4	548	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	WDR7_ENST00000357574.3_Missense_Mutation_p.G113S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	113					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CACACATACTGGCATACAGGT	0.299																																																	0													167.0	158.0	161.0					18																	54348614		2203	4300	6503	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.337G>A	18.37:g.54348614G>A	ENSP00000254442:p.Gly113Ser		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G113S	ENST00000254442.3	37	c.337	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775546	0.49786	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.64085	-0.08;-0.08	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.59348	0.2187	L	0.51422	1.61	0.80722	D	1	B;P	0.48503	0.175;0.911	B;B	0.42282	0.025;0.382	T	0.56032	-0.8046	10	0.19147	T	0.46	.	19.3159	0.94213	0.0:0.0:1.0:0.0	.	113;113	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	S	113	ENSP00000254442:G113S;ENSP00000350187:G113S	ENSP00000254442:G113S	G	+	1	0	WDR7	52499612	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.736000	0.98828	2.669000	0.90835	0.484000	0.47621	GGC	WDR7	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000091157		0.299	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	-	0.00	36	0	G			54348614	+1	tier1	-	no_errors	ENST00000254442	ensembl	human	known	74_37	missense	22.64	41	12	SNP	1.000	A
WDR81	124997	genome.wustl.edu	37	17	1628919	1628919	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:1628919G>T	ENST00000409644.1	+	1	666	c.666G>T	c.(664-666)gaG>gaT	p.E222D	WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	222					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TACGGGCTGAGGCCTTGCTGG	0.587																																																	0													33.0	30.0	31.0					17																	1628919		692	1590	2282	SO:0001583	missense	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.666G>T	17.37:g.1628919G>T	ENSP00000386609:p.Glu222Asp		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E222D	ENST00000409644.1	37	c.666	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641175	0.47153	.	.	ENSG00000167716	ENST00000409644	T	0.19806	2.12	5.65	2.37	0.29283	.	.	.	.	.	T	0.26340	0.0643	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02144	-1.1206	6	0.34782	T	0.22	.	9.3348	0.38043	0.394:0.0:0.606:0.0	.	.	.	.	D	222	ENSP00000386609:E222D	ENSP00000386609:E222D	E	+	3	2	WDR81	1575669	0.982000	0.34865	1.000000	0.80357	0.260000	0.26232	0.286000	0.18902	0.866000	0.35629	0.655000	0.94253	GAG	WDR81	-	superfamily_Kinase-like_dom	ENSG00000167716		0.587	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	-	0.00	23	0	G	NM_152348		1628919	+1	tier1	-	no_errors	ENST00000409644	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.998	T
WHAMMP2	440253	genome.wustl.edu	37	15	28996727	28996727	+	RNA	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:28996727G>A	ENST00000512149.2	+	0	199					NR_026589.1				WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2																		ATAAGAATTCGGAAGTGAAAG	0.453																																																	0																																												0			BC035099		15q13.1	2014-03-20	2011-06-24	2011-06-24	ENSG00000248334	ENSG00000248334			32360	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 2 (pseudogene)"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)"""	WHDC1L2, WHAMML2			Standard	NR_026589		Approved		uc010uap.2		OTTHUMG00000176340		15.37:g.28996727G>A				RNA	SNP	-	NULL	ENST00000512149.2	37	NULL		15																																																																																			WHAMMP2	-	-	ENSG00000248334		0.453	WHAMMP2-003	PUTATIVE	basic	processed_transcript	WHAMMP2	HGNC	pseudogene	OTTHUMT00000431783.1	-	0.00	23	0	G	NR_026589		28996727	+1	tier1	-	no_errors	ENST00000508764	ensembl	human	putative	74_37	rna	66.67	10	20	SNP	0.206	A
WRN	7486	genome.wustl.edu	37	8	30921934	30921934	+	Silent	SNP	C	C	T	rs374898432		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:30921934C>T	ENST00000298139.5	+	4	588	c.339C>T	c.(337-339)caC>caT	p.H113H		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	113	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACTTGTTCCACGTTTCTTCCA	0.338			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0								C		0,4406		0,0,2203	224.0	201.0	209.0		339	1.6	1.0	8		209	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	WRN	NM_000553.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		113/1433	30921934	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.339C>T	8.37:g.30921934C>T			A1KYY9	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.H113	ENST00000298139.5	37	c.339	CCDS6082.1	8																																																																																			WRN	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	ENSG00000165392		0.338	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	-	0.00	89	0	C			30921934	+1	tier1	-	no_errors	ENST00000298139	ensembl	human	known	74_37	silent	25.53	70	24	SNP	0.998	T
WWP2	11060	genome.wustl.edu	37	16	69820935	69820935	+	Missense_Mutation	SNP	C	C	T	rs142617495		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:69820935C>T	ENST00000359154.2	+	2	123	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	WWP2_ENST00000569174.1_Missense_Mutation_p.R8W|SNORA62_ENST00000516634.1_RNA|WWP2_ENST00000448661.1_Missense_Mutation_p.R8W|WWP2_ENST00000356003.2_Missense_Mutation_p.R8W	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	8					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCTCTAGCCGGGCAGGAGT	0.463																																																	0								C	TRP/ARG,TRP/ARG	0,4396		0,0,2198	117.0	102.0	107.0		22,22	4.2	1.0	16	dbSNP_134	107	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	WWP2	NM_007014.3,NM_199423.1	101,101	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	8/871,8/336	69820935	3,12993	2198	4300	6498	SO:0001583	missense	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.22C>T	16.37:g.69820935C>T	ENSP00000352069:p.Arg8Trp		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.R8W	ENST00000359154.2	37	c.22	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977251	0.74360	0.0	3.49E-4	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	T;T;T	0.36520	1.25;1.25;1.25	5.29	4.25	0.50352	.	0.284721	0.33457	N	0.004890	T	0.31231	0.0790	L	0.51422	1.61	0.80722	D	1	D	0.60575	0.988	B	0.41299	0.353	T	0.08046	-1.0741	9	.	.	.	.	12.0388	0.53442	0.2179:0.7821:0.0:0.0	.	8	O00308	WWP2_HUMAN	W	8	ENSP00000352069:R8W;ENSP00000396871:R8W;ENSP00000348283:R8W	.	R	+	1	2	WWP2	68378436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.042000	0.41222	2.477000	0.83638	0.563000	0.77884	CGG	WWP2	-	NULL	ENSG00000198373		0.463	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	-	0.00	25	0	C	NM_007014		69820935	+1	tier1	rs142617495	no_errors	ENST00000356003	ensembl	human	known	74_37	missense	42.11	22	16	SNP	1.000	T
XIRP2	129446	genome.wustl.edu	37	2	168107566	168107566	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:168107566C>T	ENST00000409195.1	+	9	9753	c.9664C>T	c.(9664-9666)Cgt>Tgt	p.R3222C	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3000C|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3222C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3047					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGCAACACTTCGTCGTCAAAT	0.448																																																	0													68.0	67.0	67.0					2																	168107566		1912	4132	6044	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9664C>T	2.37:g.168107566C>T	ENSP00000386840:p.Arg3222Cys		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.R3222C	ENST00000409195.1	37	c.9664	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871719	0.51695	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02916	4.12;4.12;4.11	5.45	3.54	0.40534	.	0.401019	0.23325	N	0.049416	T	0.13200	0.0320	M	0.72894	2.215	0.37992	D	0.933932	D;D;D	0.89917	1.0;1.0;0.975	D;D;B	0.91635	0.997;0.999;0.288	T	0.02625	-1.1132	10	0.87932	D	0	-7.4907	13.2499	0.60045	0.386:0.614:0.0:0.0	.	3047;3047;3000	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	C	3222;3222;3000;636	ENSP00000386840:R3222C;ENSP00000295237:R3222C;ENSP00000387255:R3000C	ENSP00000295237:R3222C	R	+	1	0	XIRP2	167815812	0.984000	0.35163	0.917000	0.36280	0.994000	0.84299	2.421000	0.44688	1.432000	0.47375	0.460000	0.39030	CGT	XIRP2	-	NULL	ENSG00000163092		0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0.00	12	0	C	NM_152381		168107566	+1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.422	T
XIST	7503	genome.wustl.edu	37	X	73068387	73068387	+	lincRNA	SNP	C	C	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:73068387C>G	ENST00000429829.1	-	0	4201					NR_001564.2				X inactive specific transcript (non-protein coding)																		GATCAGCCCACATTGTAGCGT	0.423																																																	0													40.0	37.0	38.0					X																	73068387		876	1991	2867			0			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73068387C>G				RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.423	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	-	0.00	12	0	C	NR_001564		73068387	-1	tier1	-	no_errors	ENST00000429829	ensembl	human	known	74_37	rna	42.11	11	8	SNP	0.000	G
XKR7	343702	genome.wustl.edu	37	20	30584487	30584487	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:30584487G>A	ENST00000562532.2	+	3	1141	c.967G>A	c.(967-969)Gtc>Atc	p.V323I		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	323						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTCGCCAGCGTCTACAAGCT	0.617																																																	0													81.0	76.0	78.0					20																	30584487		2203	4300	6503	SO:0001583	missense	0			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.967G>A	20.37:g.30584487G>A	ENSP00000477059:p.Val323Ile		Q9NUG5	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.V323I	ENST00000562532.2	37	c.967	CCDS33459.1	20	.	.	.	.	.	.	.	.	.	.	g	18.70	3.679623	0.68042	.	.	ENSG00000101321	ENST00000217299	T	0.67345	-0.26	5.19	5.19	0.71726	.	0.122204	0.53938	D	0.000041	T	0.73110	0.3545	L	0.56769	1.78	0.80722	D	1	D	0.63046	0.992	P	0.55112	0.769	T	0.68727	-0.5332	10	0.18276	T	0.48	.	17.7051	0.88306	0.0:0.0:1.0:0.0	.	323	Q5GH72	XKR7_HUMAN	I	323	ENSP00000217299:V323I	ENSP00000217299:V323I	V	+	1	0	XKR7	30048148	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.872000	0.69636	2.427000	0.82271	0.556000	0.70494	GTC	XKR7	-	pfam_Transport_prot_XK	ENSG00000260903		0.617	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	HGNC	protein_coding	OTTHUMT00000078597.3	-	0.00	45	0	G	NM_001011718		30584487	+1	tier1	-	no_errors	ENST00000562532	ensembl	human	known	74_37	missense	59.74	31	46	SNP	1.000	A
XRRA1	143570	genome.wustl.edu	37	11	74656099	74656099	+	5'UTR	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:74656099delT	ENST00000340360.6	-	0	291				XRRA1_ENST00000527087.1_5'UTR|XRRA1_ENST00000533598.1_5'UTR|AP001992.1_ENST00000578538.1_RNA|XRRA1_ENST00000321448.8_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CTTAACTTCCTTTTTTTTTTG	0.368																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.-41A>-	11.37:g.74656099delT				RNA	DEL	-	NULL	ENST00000340360.6	37	NULL	CCDS44680.1	11																																																																																			XRRA1	-	-	ENSG00000166435		0.368	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1		0.00	28	0	T	NM_182969		74656099	-1	tier1		no_errors	ENST00000524430	ensembl	human	known	74_37	rna	37.14	22	13	DEL	0.998	-
ZBED4	9889	genome.wustl.edu	37	22	50278015	50278017	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:50278015_50278017delCTC	ENST00000216268.5	+	2	1182_1184	c.705_707delCTC	c.(703-708)atctcc>atc	p.S237del		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	237						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGAAGAAATCTCCTCTGACATG	0.527																																																	0																																										SO:0001651	inframe_deletion	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.705_707delCTC	22.37:g.50278018_50278020delCTC	ENSP00000216268:p.Ser237del		B2RZH1|Q1ECU0|Q9UGG8	In_Frame_Del	DEL	pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S237in_frame_del	ENST00000216268.5	37	c.705_707	CCDS33677.1	22																																																																																			ZBED4	-	NULL	ENSG00000100426		0.527	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2		0.00	18	0	CTC	NM_014838		50278017	+1	tier1		no_errors	ENST00000216268	ensembl	human	known	74_37	in_frame_del	10.77	58	7	DEL	0.000:0.167:0.230	-
ZBTB4	57659	genome.wustl.edu	37	17	7369187	7369187	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:7369187C>T	ENST00000311403.4	-	3	1273	c.934G>A	c.(934-936)Gcg>Acg	p.A312T	ZBTB4_ENST00000380599.4_Missense_Mutation_p.A312T	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	312					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TCGCAGGCCGCGCACACATAC	0.637																																																	0													71.0	59.0	63.0					17																	7369187		2203	4300	6503	SO:0001583	missense	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.934G>A	17.37:g.7369187C>T	ENSP00000307858:p.Ala312Thr		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A312T	ENST00000311403.4	37	c.934	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279951	0.40294	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.27402	1.67;1.67	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.173296	0.38005	N	0.001845	T	0.11623	0.0283	N	0.05280	-0.08	0.30712	N	0.749134	P	0.45986	0.87	B	0.36378	0.223	T	0.05835	-1.0861	10	0.13108	T	0.6	-15.459	8.7308	0.34498	0.0:0.8386:0.0:0.1614	.	312	Q9P1Z0	ZBTB4_HUMAN	T	312	ENSP00000307858:A312T;ENSP00000369973:A312T	ENSP00000307858:A312T	A	-	1	0	ZBTB4	7309911	0.990000	0.36364	0.961000	0.40146	0.023000	0.10783	1.607000	0.36836	2.651000	0.90000	0.650000	0.86243	GCG	ZBTB4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174282		0.637	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	-	0.00	45	0	C	NM_020899		7369187	-1	tier1	-	no_errors	ENST00000311403	ensembl	human	known	74_37	missense	20.16	99	25	SNP	0.998	T
ZC3H11A	9877	genome.wustl.edu	37	1	203770930	203770930	+	5'UTR	DEL	T	T	-	rs376360173	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:203770930delT	ENST00000545588.1	+	0	2468				ZC3H11A_ENST00000367214.1_Intron|ZC3H11A_ENST00000367212.3_Intron|ZC3H11A_ENST00000332127.4_Intron|ZC3H11A_ENST00000466470.1_3'UTR	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A						poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAAAATCGGGTTTTTTTTGGT	0.269																																																	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.-1360T>-	1.37:g.203770930delT			Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	RNA	DEL	-	NULL	ENST00000545588.1	37	NULL	CCDS30978.1	1																																																																																			ZC3H11A	-	-	ENSG00000058673		0.269	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3		0.00	97	0	T	NM_014827		203770930	+1	tier1		no_errors	ENST00000461980	ensembl	human	known	74_37	rna	13.00	87	13	DEL	0.001	-
ZC3H18	124245	genome.wustl.edu	37	16	88691141	88691141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:88691141delC	ENST00000301011.5	+	12	2230	c.2030delC	c.(2029-2031)accfs	p.T677fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.T701fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	677	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R680fs*5(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCAGCCAGGACCCCCCCCAGG	0.667																																					Ovarian(121;375 2276 20373 38669)												1	Deletion - Frameshift(1)	large_intestine(1)											24.0	38.0	33.0					16																	88691141		2192	4300	6492	SO:0001589	frameshift_variant	0			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2030delC	16.37:g.88691141delC	ENSP00000301011:p.Thr677fs		Q96DG4|Q96MP7	Frame_Shift_Del	DEL	smart_Znf_CCCH	p.R680fs	ENST00000301011.5	37	c.2030	CCDS10967.1	16																																																																																			ZC3H18	-	NULL	ENSG00000158545		0.667	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1		0.00	19	0	C	NM_144604		88691141	+1	tier1		no_errors	ENST00000301011	ensembl	human	known	74_37	frame_shift_del	25.00	30	10	DEL	0.568	-
ZC3H3	23144	genome.wustl.edu	37	8	144621036	144621037	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:144621036_144621037insG	ENST00000262577.5	-	2	531_532	c.500_501insC	c.(499-501)cctfs	p.P167fs		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	167					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCTGTCCCCGAGGGGGCTCACC	0.634																																																	0																																										SO:0001589	frameshift_variant	0			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.501dupC	8.37:g.144621041_144621041dupG	ENSP00000262577:p.Pro167fs		Q14163|Q8N4E2|Q9BUS4	Frame_Shift_Ins	INS	pfam_Znf_CCCH,smart_Znf_CCCH	p.R168fs	ENST00000262577.5	37	c.501_500	CCDS6402.1	8																																																																																			ZC3H3	-	NULL	ENSG00000014164		0.634	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2		0.00	41	0	0	NM_015117		144621037	-1			no_errors	ENST00000262577	ensembl	human	known	74_37	frame_shift_ins	11.11	160	20	INS	0.011:0.048	G
ZC3HAV1	56829	genome.wustl.edu	37	7	138749694	138749695	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:138749694_138749695delAG	ENST00000242351.5	-	8	2239_2240	c.1923_1924delCT	c.(1921-1926)ctctatfs	p.Y642fs	ZC3HAV1_ENST00000464606.1_Frame_Shift_Del_p.Y764fs|ZC3HAV1_ENST00000471652.1_Frame_Shift_Del_p.Y642fs	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	642	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAGGATTGATAGAGAGACTCCA	0.436																																																	0																																										SO:0001589	frameshift_variant	0			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1923_1924delCT	7.37:g.138749698_138749699delAG	ENSP00000242351:p.Tyr642fs		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Frame_Shift_Del	DEL	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.Y642fs	ENST00000242351.5	37	c.1924_1923	CCDS5851.1	7																																																																																			ZC3HAV1	-	pfscan_WWE-dom	ENSG00000105939		0.436	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1		0.00	32	0	AG	NM_020119		138749695	-1	tier1		no_errors	ENST00000242351	ensembl	human	known	74_37	frame_shift_del	14.89	40	7	DEL	0.035:0.001	-
ZDBF2	57683	genome.wustl.edu	37	2	207174428	207174428	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:207174428delA	ENST00000374423.3	+	5	5562	c.5176delA	c.(5176-5178)aaafs	p.K1728fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1728							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGGGCTGATAAAAAAAAACG	0.453																																																	0													73.0	71.0	72.0					2																	207174428		1869	4105	5974	SO:0001589	frameshift_variant	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5176delA	2.37:g.207174428delA	ENSP00000363545:p.Lys1728fs		Q6ZNP7|Q6ZSN8	Frame_Shift_Del	DEL	pfam_Znf_DBF,smart_Znf_DBF	p.K1728fs	ENST00000374423.3	37	c.5176	CCDS46501.1	2																																																																																			ZDBF2	-	NULL	ENSG00000204186		0.453	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1		0.00	15	0	A	NM_020923		207174428	+1	tier1		no_errors	ENST00000374423	ensembl	human	known	74_37	frame_shift_del	47.37	10	9	DEL	0.000	-
ZDHHC16	84287	genome.wustl.edu	37	10	99215505	99215507	+	In_Frame_Del	DEL	AAG	AAG	-	rs146287872	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:99215505_99215507delAAG	ENST00000370854.3	+	9	1102_1104	c.913_915delAAG	c.(913-915)aagdel	p.K306del	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_In_Frame_Del_p.K225del|ZDHHC16_ENST00000370842.2_In_Frame_Del_p.K290del|ZDHHC16_ENST00000370846.4_In_Frame_Del_p.K236del|ZDHHC16_ENST00000393760.1_In_Frame_Del_p.K306del|ZDHHC16_ENST00000353979.3_In_Frame_Del_p.K267del|ZDHHC16_ENST00000352634.4_In_Frame_Del_p.K290del	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	306					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GCACATCAACAAGAAGGAGAGAC	0.532																																																	0									,,,,	1,4261		0,1,2130					,,,,	6.1	1.0			147	0,8254		0,0,4127	no	coding,coding,coding,coding,coding	ZDHHC16	NM_198046.1,NM_198045.1,NM_198044.1,NM_198043.1,NM_032327.2	,,,,	0,1,6257	A1A1,A1R,RR		0.0,0.0235,0.0080	,,,,	,,,,		1,12515				SO:0001651	inframe_deletion	0			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.913_915delAAG	10.37:g.99215508_99215510delAAG	ENSP00000359891:p.Lys306del		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	In_Frame_Del	DEL	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.K306in_frame_del	ENST00000370854.3	37	c.913_915	CCDS7460.1	10																																																																																			ZDHHC16	-	NULL	ENSG00000171307		0.532	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC16	HGNC	protein_coding	OTTHUMT00000049658.2		0.00	47	0	AAG	NM_032327		99215507	+1	tier1		no_errors	ENST00000370854	ensembl	human	known	74_37	in_frame_del	20.00	48	12	DEL	1.000:0.988:0.995	-
ZEB1	6935	genome.wustl.edu	37	10	31810288	31810288	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:31810288A>G	ENST00000320985.10	+	7	2135	c.2025A>G	c.(2023-2025)gtA>gtG	p.V675V	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Silent_p.V659V|ZEB1_ENST00000560721.2_Silent_p.V655V|ZEB1_ENST00000361642.5_Silent_p.V676V|ZEB1_ENST00000542815.3_Silent_p.V608V			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	675					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACAGCACAGTAAATCTACAAA	0.448																																					Ovarian(40;423 959 14296 36701 49589)												0													75.0	67.0	70.0					10																	31810288		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2025A>G	10.37:g.31810288A>G			B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.V676	ENST00000320985.10	37	c.2028	CCDS7169.1	10																																																																																			ZEB1	-	NULL	ENSG00000148516		0.448	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	-	0.00	18	0	A	NM_030751		31810288	+1	tier1	-	no_errors	ENST00000361642	ensembl	human	known	74_37	silent	46.67	8	7	SNP	0.000	G
ZEB2	9839	genome.wustl.edu	37	2	145156467	145156467	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:145156467G>A	ENST00000558170.2	-	8	3471	c.2287C>T	c.(2287-2289)Cct>Tct	p.P763S	ZEB2_ENST00000303660.4_Missense_Mutation_p.P763S|ZEB2_ENST00000539609.3_Missense_Mutation_p.P739S|ZEB2_ENST00000409487.3_Missense_Mutation_p.P763S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	763					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AAATGGGAAGGTTTTGTTAGC	0.403																																					Melanoma(33;1235 1264 5755 16332)												0													203.0	212.0	209.0					2																	145156467		2203	4300	6503	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2287C>T	2.37:g.145156467G>A	ENSP00000454157:p.Pro763Ser		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.P763S	ENST00000558170.2	37	c.2287	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.551792	0.00918	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.10763	2.84;2.84;2.84	5.16	4.23	0.50019	.	0.202593	0.52532	N	0.000080	T	0.03178	0.0093	N	0.01729	-0.75	0.36861	D	0.888417	B;B;B;B	0.16396	0.017;0.001;0.0;0.0	B;B;B;B	0.10450	0.005;0.002;0.001;0.001	T	0.30679	-0.9970	10	0.06099	T	0.92	-2.4642	7.8667	0.29541	0.2073:0.0:0.7927:0.0	.	739;628;762;763	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	S	739;763;763	ENSP00000443792:P739S;ENSP00000302501:P763S;ENSP00000386854:P763S	ENSP00000302501:P763S	P	-	1	0	ZEB2	144872937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.484000	0.45242	1.150000	0.42419	0.655000	0.94253	CCT	ZEB2	-	NULL	ENSG00000169554		0.403	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	-	0.00	44	0	G	NM_014795		145156467	-1	tier1	-	no_errors	ENST00000303660	ensembl	human	known	74_37	missense	40.82	29	20	SNP	1.000	A
ZFHX3	463	genome.wustl.edu	37	16	72845811	72845811	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:72845811G>A	ENST00000268489.5	-	6	4328	c.3656C>T	c.(3655-3657)cCg>cTg	p.P1219L	RP5-991G20.2_ENST00000558618.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.P305L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1219					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CACCTGCTCCGGTTTGATCTC	0.552																																																	0													188.0	198.0	194.0					16																	72845811		2198	4300	6498	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3656C>T	16.37:g.72845811G>A	ENSP00000268489:p.Pro1219Leu		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P1219L	ENST00000268489.5	37	c.3656	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436829	0.25900	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.60797	0.16;0.16	5.86	5.86	0.93980	.	0.144228	0.31989	N	0.006755	T	0.47414	0.1444	L	0.35854	1.095	0.20196	N	0.999925	B	0.14012	0.009	B	0.08055	0.003	T	0.23726	-1.0180	10	0.25751	T	0.34	.	14.3687	0.66823	0.0714:0.0:0.9286:0.0	.	1219	Q15911	ZFHX3_HUMAN	L	1219;305	ENSP00000268489:P1219L;ENSP00000438926:P305L	ENSP00000268489:P1219L	P	-	2	0	ZFHX3	71403312	0.944000	0.32072	0.035000	0.18076	0.830000	0.47004	5.220000	0.65267	2.937000	0.99478	0.650000	0.86243	CCG	ZFHX3	-	NULL	ENSG00000140836		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0.00	31	0	G	NM_006885		72845811	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	45.00	22	18	SNP	0.048	A
ZFP1	162239	genome.wustl.edu	37	16	75203737	75203737	+	Silent	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:75203737G>A	ENST00000393430.2	+	4	853	c.729G>A	c.(727-729)ccG>ccA	p.P243P	ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Silent_p.P210P|ZFP1_ENST00000570010.1_Silent_p.P243P			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						TCGAGTGTCCGGAATGTGGAA	0.443																																					NSCLC(187;1429 2122 10143 20357 42217)												0													55.0	56.0	55.0					16																	75203737		2197	4299	6496	SO:0001819	synonymous_variant	0			AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.729G>A	16.37:g.75203737G>A			A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P243	ENST00000393430.2	37	c.729	CCDS10914.2	16																																																																																			ZFP1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184517		0.443	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP1	HGNC	protein_coding	OTTHUMT00000269013.2	-	0.00	36	0	G	NM_153688		75203737	+1	tier1	-	no_errors	ENST00000393430	ensembl	human	known	74_37	silent	34.21	25	13	SNP	0.022	A
ZFR	51663	genome.wustl.edu	37	5	32404161	32404161	+	Frame_Shift_Del	DEL	T	T	-	rs527380225		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:32404161delT	ENST00000265069.8	-	7	1176	c.1074delA	c.(1072-1074)aaafs	p.K358fs		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	358					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATGCAGCTTCTTTTTTTTTAT	0.348																																																	0													144.0	142.0	143.0					5																	32404161		2203	4300	6503	SO:0001589	frameshift_variant	0			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1074delA	5.37:g.32404161delT	ENSP00000265069:p.Lys358fs		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Frame_Shift_Del	DEL	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.E359fs	ENST00000265069.8	37	c.1074	CCDS34139.1	5																																																																																			ZFR	-	smart_Znf_U1	ENSG00000056097		0.348	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1		0.00	108	0	T			32404161	-1			no_errors	ENST00000265069	ensembl	human	known	74_37	frame_shift_del	9.48	210	22	DEL	1.000	0
ZMAT1	84460	genome.wustl.edu	37	X	101138439	101138439	+	3'UTR	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:101138439delT	ENST00000372782.3	-	0	2007				ZMAT1_ENST00000458570.1_3'UTR|ZMAT1_ENST00000540921.1_3'UTR|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1							nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ATATTGACTGTTTTTTTTTTT	0.333																																																	0										315,418,2986		0,1,238,76,0,316,101,1036,360	28.0	25.0	26.0			-0.6	0.0	X		27	639,846,4988		1,0,356,281,0,428,418,1572,1060	no	utr-3	ZMAT1	NM_001011657.3		1,1,594,357,0,744,519,2608,1420	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		22.9414,19.7096,21.7622			101138439	954,1264,7974	2202	4290	6492	SO:0001624	3_prime_UTR_variant	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.*43A>-	X.37:g.101138439delT			Q8NDS3|Q96JN6	RNA	DEL	-	NULL	ENST00000372782.3	37	NULL	CCDS35348.1	X																																																																																			ZMAT1	-	-	ENSG00000166432		0.333	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1		0.00	16	0	T			101138439	-1	tier1		no_errors	ENST00000494068	ensembl	human	known	74_37	rna	64.29	10	18	DEL	0.000	-
ZMYM4	9202	genome.wustl.edu	37	1	35846959	35846960	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:35846959_35846960insA	ENST00000314607.6	+	8	1361_1362	c.1281_1282insA	c.(1282-1284)aaafs	p.K428fs	ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.K428fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	428					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATATGAACTGAAAAAAAAACC	0.342																																																	0																																										SO:0001589	frameshift_variant	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1290dupA	1.37:g.35846968_35846968dupA	ENSP00000322915:p.Lys428fs		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Ins	INS	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom	p.P430fs	ENST00000314607.6	37	c.1281_1282	CCDS389.1	1																																																																																			ZMYM4	-	NULL	ENSG00000146463		0.342	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3		0.00	27	0	-	NM_005095		35846960	+1	tier1		no_errors	ENST00000314607	ensembl	human	known	74_37	frame_shift_ins	27.27	32	12	INS	0.987:1.000	A
ZMYND19	116225	genome.wustl.edu	37	9	140481423	140481423	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:140481423G>A	ENST00000298585.2	-	4	581	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	ZMYND19_ENST00000471957.1_5'Flank	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	119						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		ACCCACCTCTGCTTGCTGGAG	0.627																																																	0													46.0	43.0	44.0					9																	140481423		2203	4300	6503	SO:0001587	stop_gained	0			BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.355C>T	9.37:g.140481423G>A	ENSP00000298585:p.Gln119*		Q5T366	Nonsense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.Q119*	ENST00000298585.2	37	c.355	CCDS7048.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.664233	0.96745	.	.	ENSG00000165724	ENST00000298585	.	.	.	4.82	3.92	0.45320	.	0.122017	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	11.506	0.50466	0.0878:0.0:0.9122:0.0	.	.	.	.	X	119	.	ENSP00000298585:Q119X	Q	-	1	0	ZMYND19	139601244	1.000000	0.71417	0.957000	0.39632	0.850000	0.48378	9.444000	0.97578	1.240000	0.43803	0.655000	0.94253	CAG	ZMYND19	-	NULL	ENSG00000165724		0.627	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND19	HGNC	protein_coding	OTTHUMT00000055356.1	-	0.00	28	0	G	NM_138462		140481423	-1	tier1	-	no_errors	ENST00000298585	ensembl	human	known	74_37	nonsense	44.23	29	23	SNP	1.000	A
ZMYND8	23613	genome.wustl.edu	37	20	45867410	45867410	+	Intron	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:45867410delA	ENST00000311275.7	-	15	2859				ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000355972.4_Intron|ZMYND8_ENST00000471951.2_Intron|ZMYND8_ENST00000536340.1_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000352431.2_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AACGAGAACTAAAAAAAAAAA	0.413																																																	0																																										SO:0001627	intron_variant	0			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2605+91T>-	20.37:g.45867410delA			B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	RNA	DEL	-	NULL	ENST00000311275.7	37	NULL		20																																																																																			ZMYND8	-	-	ENSG00000101040		0.413	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2		0.00	31	0	A	NM_183047		45867410	-1	tier1		no_errors	ENST00000468376	ensembl	human	known	74_37	rna	14.89	40	7	DEL	0.000	-
ZNF114	163071	genome.wustl.edu	37	19	48789818	48789818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:48789818delT	ENST00000595607.1	+	6	1431	c.937delT	c.(937-939)tttfs	p.F314fs	ZNF114_ENST00000597695.1_Frame_Shift_Del_p.F280fs|ZNF114_ENST00000600687.1_Frame_Shift_Del_p.F314fs|ZNF114_ENST00000315849.1_Frame_Shift_Del_p.F314fs			Q8NC26	ZN114_HUMAN	zinc finger protein 114	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TGGGAGAGCCTTTTTTTATCA	0.433																																																	0													72.0	79.0	77.0					19																	48789818		2203	4300	6503	SO:0001589	frameshift_variant	0			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.937delT	19.37:g.48789818delT	ENSP00000469998:p.Phe314fs		A8K6B0|Q08AQ6	Frame_Shift_Del	DEL	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y315fs	ENST00000595607.1	37	c.937	CCDS12713.1	19																																																																																			ZNF114	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178150		0.433	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1		0.00	15	0	T	NM_153608		48789818	+1	tier1		no_errors	ENST00000315849	ensembl	human	known	74_37	frame_shift_del	63.64	4	7	DEL	0.070	-
ZNF300	91975	genome.wustl.edu	37	5	150275828	150275828	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:150275828A>G	ENST00000274599.5	-	6	1393	c.973T>C	c.(973-975)Tat>Cat	p.Y325H	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Missense_Mutation_p.Y341H|ZNF300_ENST00000418587.2_Missense_Mutation_p.Y289H|ZNF300_ENST00000394226.2_Missense_Mutation_p.Y325H	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACAATCATAAGGTTTCTCC	0.403																																																	0													82.0	88.0	86.0					5																	150275828		2202	4299	6501	SO:0001583	missense	0			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.973T>C	5.37:g.150275828A>G	ENSP00000274599:p.Tyr325His		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	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.Y341H	ENST00000274599.5	37	c.1021	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	A	17.22	3.334760	0.60853	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	3.59	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35941	0.0949	L	0.45051	1.395	0.26140	N	0.980295	D	0.71674	0.998	D	0.72338	0.977	T	0.06445	-1.0826	9	0.87932	D	0	.	10.4444	0.44486	1.0:0.0:0.0:0.0	.	325	Q96RE9	ZN300_HUMAN	H	341;325;289;325	ENSP00000397178:Y341H;ENSP00000274599:Y325H;ENSP00000392593:Y289H;ENSP00000377773:Y325H	ENSP00000274599:Y325H	Y	-	1	0	ZNF300	150256021	0.911000	0.30947	0.996000	0.52242	0.993000	0.82548	8.122000	0.89584	1.633000	0.50488	0.460000	0.39030	TAT	ZNF300	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000145908		0.403	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		-	0.00	46	0	A	NM_052860		150275828	-1	tier1	-	no_errors	ENST00000446148	ensembl	human	known	74_37	missense	22.92	37	11	SNP	0.888	G
ZNF317	57693	genome.wustl.edu	37	19	9271738	9271738	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:9271738C>T	ENST00000247956.6	+	7	1722	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	ZNF317_ENST00000360385.3_Missense_Mutation_p.R441C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCAAGAGAGACGCTACGAATG	0.537																																																	0													54.0	50.0	51.0					19																	9271738		2203	4300	6503	SO:0001583	missense	0			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1417C>T	19.37:g.9271738C>T	ENSP00000247956:p.Arg473Cys		Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	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.R473C	ENST00000247956.6	37	c.1417	CCDS12210.1	19	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602777	0.46423	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.18960	2.18;2.18	2.85	2.85	0.33270	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.211058	0.25511	N	0.030180	T	0.27454	0.0674	L	0.28694	0.88	0.43803	D	0.996357	D;D	0.76494	0.999;0.995	P;P	0.62089	0.898;0.751	T	0.03121	-1.1070	10	0.87932	D	0	-34.3736	9.3723	0.38261	0.0:1.0:0.0:0.0	.	441;473	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	C	473;441	ENSP00000247956:R473C;ENSP00000353554:R441C	ENSP00000247956:R473C	R	+	1	0	ZNF317	9132738	0.002000	0.14202	0.100000	0.21137	0.115000	0.19883	1.137000	0.31479	1.926000	0.55796	0.491000	0.48974	CGC	ZNF317	-	pfscan_Znf_C2H2	ENSG00000130803		0.537	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF317	HGNC	protein_coding	OTTHUMT00000448995.1		0.00	21	0	C	NM_020933		9271738	+1			no_errors	ENST00000247956	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.892	T
ZNF385D	79750	genome.wustl.edu	37	3	22413997	22413997	+	5'UTR	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:22413997G>A	ENST00000494118.1	-	0	126							Q9H6B1	Z385D_HUMAN	zinc finger protein 385D							nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TCCTCCCACCGAGCTCTTCAT	0.687																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000494118.1:c.-924C>T	3.37:g.22413997G>A				RNA	SNP	-	NULL	ENST00000494118.1	37	NULL		3																																																																																			ZNF385D	-	-	ENSG00000151789		0.687	ZNF385D-008	KNOWN	basic	processed_transcript	ZNF385D	HGNC	protein_coding	OTTHUMT00000340810.1	-	0.00	34	0	G	NM_024697		22413997	-1	tier1	-	no_errors	ENST00000494108	ensembl	human	known	74_37	rna	52.50	19	21	SNP	0.999	A
ZNF407	55628	genome.wustl.edu	37	18	72343072	72343072	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:72343072G>A	ENST00000299687.5	+	1	97	c.97G>A	c.(97-99)Ggt>Agt	p.G33S	ZNF407_ENST00000309902.6_Missense_Mutation_p.G33S|ZNF407_ENST00000582337.1_Missense_Mutation_p.G33S|ZNF407_ENST00000577538.1_Missense_Mutation_p.G33S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	33					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TAATGAAGACGGTGGGCCTGT	0.378																																																	0													75.0	73.0	73.0					18																	72343072		1877	4105	5982	SO:0001583	missense	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.97G>A	18.37:g.72343072G>A	ENSP00000299687:p.Gly33Ser		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.G33S	ENST00000299687.5	37	c.97	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	5.696	0.312997	0.10789	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.08634	3.07;3.52	5.06	-7.24	0.01475	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.48768	-0.9006	9	0.05525	T	0.97	.	1.6417	0.02753	0.1788:0.1932:0.3634:0.2646	.	33;33;33	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	S	33	ENSP00000299687:G33S;ENSP00000310359:G33S	ENSP00000299687:G33S	G	+	1	0	ZNF407	70472060	0.000000	0.05858	0.033000	0.17914	0.003000	0.03518	-2.060000	0.01392	0.250000	0.21479	-0.794000	0.03295	GGT	ZNF407	-	NULL	ENSG00000215421		0.378	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	-	0.00	47	0	G	NM_017757		72343072	+1	tier1	-	no_errors	ENST00000299687	ensembl	human	known	74_37	missense	40.91	26	18	SNP	0.060	A
ZNF41	7592	genome.wustl.edu	37	X	47307383	47307383	+	Missense_Mutation	SNP	C	C	T	rs555581955		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:47307383C>T	ENST00000377065.4	-	5	2425	c.1786G>A	c.(1786-1788)Gtg>Atg	p.V596M	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.V606M|ZNF41_ENST00000313116.7_Missense_Mutation_p.V596M	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	638					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V596M(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CTCTGATGCACGCTTAGTGTT	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)											92.0	71.0	78.0					X																	47307383		2203	4300	6503	SO:0001583	missense	0			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1786G>A	X.37:g.47307383C>T	ENSP00000366265:p.Val596Met		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	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.V606M	ENST00000377065.4	37	c.1816	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	C	6.154	0.396537	0.11638	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.18338	2.22;2.22;2.22	3.98	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32147	N	0.006510	T	0.08626	0.0214	N	0.25201	0.72	0.09310	N	1	P;P;B;P;P	0.47910	0.741;0.741;0.223;0.88;0.902	B;B;B;B;B	0.37239	0.112;0.112;0.014;0.157;0.244	T	0.24154	-1.0168	10	0.66056	D	0.02	.	4.3239	0.11031	0.2226:0.6575:0.0:0.1199	.	596;598;606;630;638	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	M	596;596;606	ENSP00000315173:V596M;ENSP00000366265:V596M;ENSP00000380243:V606M	ENSP00000315173:V596M	V	-	1	0	ZNF41	47192327	0.000000	0.05858	0.206000	0.23566	0.958000	0.62258	-0.956000	0.03865	1.042000	0.40150	0.600000	0.82982	GTG	ZNF41	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000147124		0.453	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	-	0.00	19	0	C	NM_153380		47307383	-1	tier1	-	no_errors	ENST00000397050	ensembl	human	known	74_37	missense	66.67	7	14	SNP	0.000	T
ZNF608	57507	genome.wustl.edu	37	5	123972786	123972786	+	3'UTR	DEL	A	A	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:123972786delA	ENST00000306315.5	-	0	5781				ZNF608_ENST00000504926.1_3'UTR|ZNF608_ENST00000513985.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608								metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGTAAACATTAAAAAAAAAAA	0.303																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.*807T>-	5.37:g.123972786delA			A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	RNA	DEL	-	NULL	ENST00000306315.5	37	NULL	CCDS34219.1	5																																																																																			ZNF608	-	-	ENSG00000168916		0.303	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1		0.00	27	0	A	XM_114432		123972786	-1	tier1		no_errors	ENST00000513985	ensembl	human	known	74_37	rna	38.10	13	8	DEL	0.999	-
ZNF608	57507	genome.wustl.edu	37	5	124036909	124036909	+	Silent	SNP	G	G	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:124036909G>T	ENST00000306315.5	-	2	1395	c.960C>A	c.(958-960)ctC>ctA	p.L320L	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	320							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCTGAGGCGTGAGACTGCTGG	0.512																																																	0													143.0	138.0	140.0					5																	124036909		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.960C>A	5.37:g.124036909G>T			A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	NULL	p.L320	ENST00000306315.5	37	c.960	CCDS34219.1	5																																																																																			ZNF608	-	NULL	ENSG00000168916		0.512	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1		0.00	49	0	G	XM_114432		124036909	-1			no_errors	ENST00000306315	ensembl	human	known	74_37	silent	5.08	56	3	SNP	1.000	T
ZNF629	23361	genome.wustl.edu	37	16	30794962	30794962	+	Silent	SNP	C	C	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:30794962C>T	ENST00000262525.4	-	3	894	c.687G>A	c.(685-687)acG>acA	p.T229T		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GCTTCTCTCCCGTGTGCGTGC	0.627																																																	0													70.0	74.0	73.0					16																	30794962		2197	4300	6497	SO:0001819	synonymous_variant	0			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.687G>A	16.37:g.30794962C>T			Q15938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T229	ENST00000262525.4	37	c.687	CCDS45463.1	16																																																																																			ZNF629	-	pfscan_Znf_C2H2	ENSG00000102870		0.627	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	HGNC	protein_coding	OTTHUMT00000434291.1	-	0.00	56	0	C	NM_015309		30794962	-1	tier1	-	no_errors	ENST00000262525	ensembl	human	known	74_37	silent	32.35	69	33	SNP	0.999	T
ZNF644	84146	genome.wustl.edu	37	1	91381965	91381965	+	3'UTR	SNP	A	A	T			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:91381965A>T	ENST00000370440.1	-	0	4591				ZNF644_ENST00000347275.5_3'UTR|ZNF644_ENST00000337393.5_3'UTR|ZNF644_ENST00000467231.1_5'UTR|ZNF644_ENST00000361321.5_3'UTR			Q9H582	ZN644_HUMAN	zinc finger protein 644						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAAATATAATATCTTATTTTT	0.299																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.*390T>A	1.37:g.91381965A>T			A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	RNA	SNP	-	NULL	ENST00000370440.1	37	NULL	CCDS731.1	1																																																																																			ZNF644	-	-	ENSG00000122482		0.299	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	-	0.00	31	0	A	NM_032186		91381965	-1	tier1	-	no_errors	ENST00000467231	ensembl	human	known	74_37	rna	43.75	18	14	SNP	1.000	T
ZNF644	84146	genome.wustl.edu	37	1	91382292	91382293	+	3'UTR	INS	-	-	A	rs201325160	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:91382292_91382293insA	ENST00000370440.1	-	0	4263_4264				ZNF644_ENST00000347275.5_3'UTR|ZNF644_ENST00000337393.5_3'UTR|ZNF644_ENST00000467231.1_5'UTR|ZNF644_ENST00000361321.5_3'UTR			Q9H582	ZN644_HUMAN	zinc finger protein 644						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TAATGTGGCTTAAAAAAAAAGA	0.317													?|AAAAAAAAA|AAAAAAAAAA|unsure	5	0.000998403	0.0	0.0	5008	,	,		17818	0.0		0.002	False		,,,				2504	0.0031																0																																										SO:0001624	3_prime_UTR_variant	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.*63->T	1.37:g.91382301_91382301dupA			A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	RNA	INS	-	NULL	ENST00000370440.1	37	NULL	CCDS731.1	1																																																																																			ZNF644	-	-	ENSG00000122482		0.317	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2		0.00	21	0	-	NM_032186		91382293	-1	tier1		no_errors	ENST00000467231	ensembl	human	known	74_37	rna	30.00	21	9	INS	0.373:1.000	A
ZNF644	84146	genome.wustl.edu	37	1	91403430	91403432	+	In_Frame_Del	DEL	ACG	ACG	-	rs140271599	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	ACG	ACG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:91403430_91403432delACG	ENST00000370440.1	-	4	3515_3517	c.3298_3300delCGT	c.(3298-3300)cgtdel	p.R1100del	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_In_Frame_Del_p.R1100del|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGGGAATAATACGACGACTGTTC	0.355																																																	0																																										SO:0001651	inframe_deletion	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3298_3300delCGT	1.37:g.91403433_91403435delACG	ENSP00000359469:p.Arg1100del		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	In_Frame_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1100in_frame_del	ENST00000370440.1	37	c.3300_3298	CCDS731.1	1																																																																																			ZNF644	-	NULL	ENSG00000122482		0.355	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2		0.00	48	0	ACG	NM_032186		91403432	-1	tier1		no_errors	ENST00000337393	ensembl	human	known	74_37	in_frame_del	10.91	49	6	DEL	1.000:1.000:1.000	-
ZNF667-AS1	100128252	genome.wustl.edu	37	19	57006425	57006425	+	lincRNA	SNP	G	G	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:57006425G>A	ENST00000585445.1	+	0	1145					NR_036521.1				ZNF667 antisense RNA 1 (head to head)																		AGTGTACAACGTTGGACACtg	0.478																																																	0																																												0			AW955601, BC110411		19q13.43	2013-05-21			ENSG00000166770	ENSG00000166770		"""Long non-coding RNAs"""	44321	non-coding RNA	RNA, long non-coding							Standard	NR_036521		Approved				OTTHUMG00000181942		19.37:g.57006425G>A				RNA	SNP	-	NULL	ENST00000585445.1	37	NULL		19																																																																																			ZNF667-AS1	-	-	ENSG00000166770		0.478	ZNF667-AS1-001	KNOWN	basic	lincRNA	ZNF667-AS1	HGNC	lincRNA	OTTHUMT00000458401.1	-	0.00	68	0	G	NR_036521		57006425	+1	tier1	-	no_errors	ENST00000299997	ensembl	human	known	74_37	rna	68.42	18	39	SNP	0.002	A
ZNF721	170960	genome.wustl.edu	37	4	435768	435768	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:435768T>C	ENST00000338977.5	-	2	2500	c.2452A>G	c.(2452-2454)Att>Gtt	p.I818V	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.I830V			Q8TF20	ZN721_HUMAN	zinc finger protein 721	818					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(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CCAGTATGAATTCTCCTATGT	0.378																																																	0													68.0	76.0	73.0					4																	435768		2119	4245	6364	SO:0001583	missense	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2452A>G	4.37:g.435768T>C	ENSP00000340524:p.Ile818Val		Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I830V	ENST00000338977.5	37	c.2488		4	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822616	0.32237	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.16324	3.22;2.35	0.499	0.499	0.16914	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23727	0.0574	L	0.31926	0.97	0.22701	N	0.998833	B;B;B	0.34181	0.126;0.44;0.386	B;P;P	0.55087	0.391;0.768;0.658	T	0.44360	-0.9333	9	0.38643	T	0.18	.	5.2826	0.15684	0.0:1.0E-4:0.0:0.9999	.	818;830;830	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	V	818;830	ENSP00000340524:I818V;ENSP00000428878:I830V	ENSP00000340524:I818V	I	-	1	0	ZNF721	425768	0.000000	0.05858	0.625000	0.29200	0.498000	0.33706	0.199000	0.17237	0.435000	0.26365	0.163000	0.16589	ATT	ZNF721	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182903		0.378	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	-	0.00	38	0	T	NM_133474		435768	-1	tier1	-	no_errors	ENST00000511833	ensembl	human	known	74_37	missense	51.43	34	36	SNP	0.998	C
ZNF733P	643955	genome.wustl.edu	37	7	62752759	62752759	+	RNA	SNP	T	T	C			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:62752759T>C	ENST00000331425.6	-	0	676					NR_003952.1				zinc finger protein 733, pseudogene																		TTCTCTCCAGTATGAATTATT	0.388																																																	0																																												0					7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752759T>C				RNA	SNP	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			ZNF733P	-	-	ENSG00000185037		0.388	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	-	0.00	35	0	T			62752759	-1	tier1	-	no_errors	ENST00000331425	ensembl	human	known	74_37	rna	26.67	22	8	SNP	1.000	C
ZNF804B	219578	genome.wustl.edu	37	7	88956723	88956724	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:88956723_88956724insA	ENST00000333190.4	+	3	924_925	c.315_316insA	c.(316-318)aaafs	p.K106fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	106							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGAAAGATGAGAAAAAACAAGA	0.361										HNSCC(36;0.09)																																							0																																										SO:0001589	frameshift_variant	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.321dupA	7.37:g.88956729_88956729dupA	ENSP00000329638:p.Lys106fs		B2RTV2|Q7Z714|Q96MN7	Frame_Shift_Ins	INS	pfam_Znf_C2H2_jaz	p.Q107fs	ENST00000333190.4	37	c.315_316	CCDS5613.1	7																																																																																			ZNF804B	-	NULL	ENSG00000182348		0.361	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2		0.00	36	0	-	NM_181646		88956724	+1	tier1		no_errors	ENST00000333190	ensembl	human	known	74_37	frame_shift_ins	26.32	28	10	INS	0.992:1.000	A
ZNF746	155061	genome.wustl.edu	37	7	149172342	149172342	+	Silent	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:149172342A>G	ENST00000340622.3	-	7	1348	c.1068T>C	c.(1066-1068)ggT>ggC	p.G356G	ZNF746_ENST00000458143.2_Silent_p.G357G			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	356					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GACTGAGCTCACCCATGTCCC	0.682																																																	0													18.0	21.0	20.0					7																	149172342		2203	4299	6502	SO:0001819	synonymous_variant	0			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1068T>C	7.37:g.149172342A>G			A8K6Z9|Q6ZRF9	Silent	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G357	ENST00000340622.3	37	c.1071	CCDS5897.1	7																																																																																			ZNF746	-	NULL	ENSG00000181220		0.682	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	-	0.00	39	0	A	NM_152557		149172342	-1	tier1	-	no_errors	ENST00000458143	ensembl	human	known	74_37	silent	34.07	60	31	SNP	0.000	G
ZNF878	729747	genome.wustl.edu	37	19	12157236	12157236	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:12157236delT	ENST00000547628.1	-	3	275	c.138delA	c.(136-138)aaafs	p.K46fs	ZNF878_ENST00000602107.1_Frame_Shift_Del_p.K93fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Frame_Shift_Del_p.K46fs	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GGTTGTTCCATTTTTTTCCTA	0.338																																																	0													126.0	103.0	110.0					19																	12157236		1814	4081	5895	SO:0001589	frameshift_variant	0				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.138delA	19.37:g.12157236delT	ENSP00000447931:p.Lys46fs			Frame_Shift_Del	DEL	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.K93fs	ENST00000547628.1	37	c.279	CCDS45984.2	19																																																																																			ZNF878	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000257446		0.338	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF878	HGNC	protein_coding	OTTHUMT00000403723.1		0.00	60	0	T	NM_001080404		12157236	-1	tier1		no_errors	ENST00000602107	ensembl	human	known	74_37	frame_shift_del	18.67	61	14	DEL	0.000	-
ZNF845	91664	genome.wustl.edu	37	19	53854383	53854383	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:53854383A>G	ENST00000595091.1	+	5	674	c.455A>G	c.(454-456)cAc>cGc	p.H152R	ZNF845_ENST00000458035.1_Missense_Mutation_p.H152R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	152					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(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CCTGAACTCCACATGTTTCAG	0.418																																																	0													68.0	48.0	54.0					19																	53854383		692	1591	2283	SO:0001583	missense	0			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.455A>G	19.37:g.53854383A>G	ENSP00000470005:p.His152Arg			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.H152R	ENST00000595091.1	37	c.455	CCDS46170.1	19	.	.	.	.	.	.	.	.	.	.	A	2.674	-0.276996	0.05679	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.06449	3.3	1.2	0.0443	0.14225	.	.	.	.	.	T	0.04907	0.0132	L	0.28458	0.855	0.09310	N	1	B	0.19200	0.034	B	0.27608	0.081	T	0.44574	-0.9319	9	0.33141	T	0.24	.	4.1954	0.10441	0.419:0.0:0.0:0.581	.	152	Q96IR2	ZN845_HUMAN	R	152	ENSP00000388311:H152R	ENSP00000412086:H152R	H	+	2	0	ZNF845	58546195	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.205000	0.17356	-0.051000	0.13334	0.338000	0.21704	CAC	ZNF845	-	NULL	ENSG00000213799		0.418	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	-	0.00	61	0	A	XM_039908		53854383	+1	tier1	-	no_errors	ENST00000458035	ensembl	human	known	74_37	missense	25.76	49	17	SNP	0.000	G
ZW10	9183	genome.wustl.edu	37	11	113639628	113639628	+	Missense_Mutation	SNP	G	G	A	rs201149106		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:113639628G>A	ENST00000200135.3	-	2	311	c.167C>T	c.(166-168)gCg>gTg	p.A56V	RP11-667M19.2_ENST00000543486.1_RNA	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	56	Interaction with RINT1.|Interaction with ZWINT.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CAGGCCCTGCGCGCTCTGCAT	0.403																																																	0													157.0	148.0	151.0					11																	113639628		2201	4296	6497	SO:0001583	missense	0			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.167C>T	11.37:g.113639628G>A	ENSP00000200135:p.Ala56Val		A1A528	Missense_Mutation	SNP	pfam_RZZ-complex_Zw10	p.A56V	ENST00000200135.3	37	c.167	CCDS8363.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365020	0.82463	.	.	ENSG00000086827	ENST00000200135	T	0.47869	0.83	4.98	4.98	0.66077	.	0.060897	0.64402	D	0.000005	T	0.49795	0.1578	L	0.60455	1.87	0.80722	D	1	D	0.57899	0.981	P	0.45639	0.488	T	0.47471	-0.9115	10	0.29301	T	0.29	-13.2997	17.4244	0.87522	0.0:0.0:1.0:0.0	.	56	O43264	ZW10_HUMAN	V	56	ENSP00000200135:A56V	ENSP00000200135:A56V	A	-	2	0	ZW10	113144838	1.000000	0.71417	0.996000	0.52242	0.547000	0.35210	8.858000	0.92256	2.605000	0.88082	0.563000	0.77884	GCG	ZW10	-	pfam_RZZ-complex_Zw10	ENSG00000086827		0.403	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	-	0.00	29	0	G	NM_004724		113639628	-1	tier1	rs201149106	no_errors	ENST00000200135	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	A
