#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_EVS_AA	i_EVS_All	i_EVS_EA	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMTS9	56999	genome.wustl.edu	37	3	64547294	64547294	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr3:64547294C>T	ENST00000498707.1	-	30	5000	c.4658G>A	c.(4657-4659)cGg>cAg	p.R1553Q	ADAMTS9-AS1_ENST00000480831.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000601022.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1525Q	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1553	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GAGGGGACACCGTGGGCCTTG	0.572																																						dbGAP											0													156.0	145.0	149.0					3																	64547294		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4658G>A	3.37:g.64547294C>T	ENSP00000418735:p.Arg1553Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.R1553Q	ENST00000498707.1	37	c.4658	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.59|12.59	1.982511|1.982511	0.34942|0.34942	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.60548	.|0.18;0.18	5.7|5.7	0.576|0.576	0.17380|0.17380	.|.	.|0.620534	.|0.15452	.|N	.|0.261598	T|T	0.32285|0.32285	0.0824|0.0824	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.16802	.|0.0;0.019;0.001	.|B;B;B	.|0.17979	.|0.001;0.02;0.001	T|T	0.11891|0.11891	-1.0569|-1.0569	5|10	.|0.30854	.|T	.|0.27	.|.	3.3062|3.3062	0.07001|0.07001	0.1381:0.094:0.4095:0.3583|0.1381:0.094:0.4095:0.3583	.|.	.|1525;1553;1553	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	S|Q	609|1525;1553	.|ENSP00000295903:R1525Q;ENSP00000418735:R1553Q	.|ENSP00000295903:R1525Q	G|R	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64522334|64522334	0.003000|0.003000	0.15002|0.15002	0.252000|0.252000	0.24328|0.24328	0.984000|0.984000	0.73092|0.73092	0.252000|0.252000	0.18278|0.18278	0.072000|0.072000	0.16694|0.16694	-0.353000|-0.353000	0.07706|0.07706	GGT|CGG	ADAMTS9	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.572	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	57	0.00	0	C			64547294	64547294	-1	no_errors	ENST00000498707	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	0.056	T
AKAP9	10142	genome.wustl.edu	37	7	91667987	91667987	+	Silent	SNP	A	A	G			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr7:91667987A>G	ENST00000359028.2	+	18	4854	c.4629A>G	c.(4627-4629)tcA>tcG	p.S1543S	AKAP9_ENST00000356239.3_Silent_p.S1531S|AKAP9_ENST00000358100.2_Silent_p.S1543S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1543					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTTATTATCAAATAGTGATC	0.323			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													71.0	80.0	77.0					7																	91667987		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4629A>G	7.37:g.91667987A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.S1543	ENST00000359028.2	37	c.4629		7																																																																																			AKAP9	-	NULL	ENSG00000127914		0.323	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		13	0.00	0	A	NM_005751		91667987	91667987	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	silent	7	50.00	7	SNP	0.009	G
AMOT	154796	genome.wustl.edu	37	X	112058873	112058873	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chrX:112058873G>C	ENST00000524145.1	-	3	1179	c.1105C>G	c.(1105-1107)Ctc>Gtc	p.L369V	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371959.3_Missense_Mutation_p.L369V|AMOT_ENST00000371962.1_Missense_Mutation_p.L137V|AMOT_ENST00000371958.1_Missense_Mutation_p.L137V			Q4VCS5	AMOT_HUMAN	angiomotin	369					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGTTGGGAGAGACGGTAATGA	0.582																																						dbGAP											0													63.0	58.0	59.0					X																	112058873		692	1591	2283	-	-	-	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1105C>G	X.37:g.112058873G>C	ENSP00000429013:p.Leu369Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.L369V	ENST00000524145.1	37	c.1105	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	7.720	0.697001	0.15106	.	.	ENSG00000126016	ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.31	5.31	0.75309	.	0.379962	0.24901	N	0.034700	T	0.07234	0.0183	N	0.22421	0.69	0.23356	N	0.997846	P	0.36048	0.534	B	0.23419	0.046	T	0.33854	-0.9852	10	0.16420	T	0.52	-4.9889	10.556	0.45118	0.0885:0.0:0.9115:0.0	.	369	Q4VCS5	AMOT_HUMAN	V	369;137;369;137	ENSP00000361027:L369V;ENSP00000361030:L137V;ENSP00000429013:L369V;ENSP00000361026:L137V	ENSP00000361026:L137V	L	-	1	0	AMOT	111945529	0.998000	0.40836	0.237000	0.24090	0.375000	0.29983	4.593000	0.61034	2.475000	0.83589	0.529000	0.55759	CTC	AMOT	-	NULL	ENSG00000126016		0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	81	0.00	0	G	NM_133265		112058873	112058873	-1	no_errors	ENST00000371959	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	0.576	C
ANK2	287	genome.wustl.edu	37	4	114223960	114223960	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr4:114223960C>T	ENST00000357077.4	+	23	2566	c.2513C>T	c.(2512-2514)aCg>aTg	p.T838M	ANK2_ENST00000509550.1_Missense_Mutation_p.T47M|ANK2_ENST00000264366.6_Missense_Mutation_p.T838M|ANK2_ENST00000394537.3_Missense_Mutation_p.T838M|ANK2_ENST00000506722.1_Missense_Mutation_p.T817M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	838					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTACCTGAGACGATGACTGAG	0.338																																						dbGAP											0													122.0	122.0	122.0					4																	114223960		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2513C>T	4.37:g.114223960C>T	ENSP00000349588:p.Thr838Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.T838M	ENST00000357077.4	37	c.2513	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803221	0.90623	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.79141	-0.19;-0.14;-0.29;-0.2;-0.28;-0.34;-0.38;-1.24	4.87	4.87	0.63330	Ankyrin repeat-containing domain (1);	0.000000	0.48286	D	0.000181	D	0.89413	0.6708	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.997	D;D;D;D;D;D	0.91635	0.997;0.996;0.99;0.999;0.996;0.964	D	0.91280	0.5051	10	0.72032	D	0.01	.	18.0239	0.89263	0.0:1.0:0.0:0.0	.	47;838;838;838;817;817	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	M	817;784;817;853;838;838;838;817;47	ENSP00000423799:T817M;ENSP00000421011:T784M;ENSP00000421067:T817M;ENSP00000424722:T853M;ENSP00000378044:T838M;ENSP00000349588:T838M;ENSP00000264366:T838M;ENSP00000426944:T47M	ENSP00000264366:T838M	T	+	2	0	ANK2	114443409	1.000000	0.71417	0.969000	0.41365	0.994000	0.84299	7.818000	0.86416	2.240000	0.73641	0.563000	0.77884	ACG	ANK2	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000145362		0.338	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	74	0.00	0	C	NM_001148		114223960	114223960	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	60	16.67	12	SNP	1.000	T
BRD1	23774	genome.wustl.edu	37	22	50191767	50191767	+	Splice_Site	SNP	T	T	C			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr22:50191767T>C	ENST00000216267.8	-	5	2272		c.e5-2		BRD1_ENST00000457780.2_Splice_Site|BRD1_ENST00000542442.1_Splice_Site|BRD1_ENST00000404034.1_Splice_Site|BRD1_ENST00000404760.1_Splice_Site|BRD1_ENST00000342989.5_Splice_Site	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1						histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATCTGGTACCTAATTTTAGGG	0.358																																						dbGAP											0													71.0	72.0	72.0					22																	50191767		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1786-2A>G	22.37:g.50191767T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ZJA4	Splice_Site	SNP	-	e5-2	ENST00000216267.8	37	c.1786-2	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180580	0.78677	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5337	0.67944	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRD1	48577771	1.000000	0.71417	0.986000	0.45419	0.982000	0.71751	7.763000	0.85283	2.040000	0.60383	0.533000	0.62120	.	BRD1	-	-	ENSG00000100425		0.358	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	62	0.00	0	T	NM_014577	Intron	50191767	50191767	-1	no_errors	ENST00000216267	ensembl	human	known	69_37n	splice_site	27	10.00	3	SNP	1.000	C
BTN3A1	11119	genome.wustl.edu	37	6	26406424	26406424	+	Silent	SNP	T	T	C	rs111540572	byFrequency	TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr6:26406424T>C	ENST00000289361.6	+	3	741	c.373T>C	c.(373-375)Ttg>Ctg	p.L125L	BTN3A1_ENST00000425234.2_Silent_p.L125L|BTN3A1_ENST00000414912.2_Silent_p.L125L|BTN3A1_ENST00000476549.2_Silent_p.L125L	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	125	Ig-like V-type 1.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGGAAAGTACTTGTGTTATTT	0.493													T|||	731	0.145966	0.1611	0.1787	5008	,	,		21119	0.0308		0.165	False		,,,				2504	0.2014					dbGAP											0													2.0	2.0	2.0					6																	26406424		1343	2917	4260	-	-	-	SO:0001819	synonymous_variant	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.373T>C	6.37:g.26406424T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.L125	ENST00000289361.6	37	c.373	CCDS4608.1	6																																																																																			BTN3A1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000026950		0.493	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	10	0.00	0	T			26406424	26406424	+1	no_errors	ENST00000289361	ensembl	human	known	69_37n	silent	9	40.00	6	SNP	0.234	C
CD163L1	283316	genome.wustl.edu	37	12	7586027	7586027	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr12:7586027G>A	ENST00000313599.3	-	3	445	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CD163L1_ENST00000416109.2_Missense_Mutation_p.R130W|CD163L1_ENST00000396630.1_Missense_Mutation_p.R130W			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	130	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATTCCCGGTGTTGACAT	0.438																																						dbGAP											0													102.0	98.0	99.0					12																	7586027		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.388C>T	12.37:g.7586027G>A	ENSP00000315945:p.Arg130Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.R130W	ENST00000313599.3	37	c.388	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063165	0.36373	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000543276	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	2.22	-3.15	0.05233	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.347950	0.02643	U	0.105576	T	0.38746	0.1052	M	0.63208	1.945	0.09310	N	1	D;D	0.61697	0.99;0.99	P;P	0.48770	0.589;0.589	T	0.39901	-0.9591	10	0.62326	D	0.03	.	1.5184	0.02510	0.1225:0.208:0.3526:0.3168	.	130;130	E7EVK4;Q9NR16	.;C163B_HUMAN	W	130;130;130;34	ENSP00000315945:R130W;ENSP00000393474:R130W;ENSP00000379871:R130W;ENSP00000442328:R34W	ENSP00000315945:R130W	R	-	1	2	CD163L1	7477294	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-4.510000	0.00223	-0.855000	0.04125	0.563000	0.77884	CGG	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.438	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	80	0.00	0	G	NM_174941		7586027	7586027	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	missense	35	33.96	18	SNP	0.002	A
CELP	1057	genome.wustl.edu	37	9	135962591	135962593	+	RNA	DEL	TGT	TGT	-	rs11243995	byFrequency	TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	TGT	TGT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr9:135962591_135962593delTGT	ENST00000411440.2	+	0	1098_1100					NR_001275.2				carboxyl ester lipase pseudogene																		AGGCTGCCCCTGTGTCCCCCACA	0.626																																						dbGAP											0																																										-	-	-			0			L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962591_135962593delTGT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000411440.2	37	NULL		9																																																																																			CELP	-	-	ENSG00000170827		0.626	CELP-002	KNOWN	basic	processed_transcript	CELP	HGNC	pseudogene	OTTHUMT00000339837.1	10	0.00	0	TGT	NM_001808		135962591	135962593	+1	no_errors	ENST00000411440	ensembl	human	known	69_37n	rna	11	26.67	4	DEL	0.004:0.003:0.001	-
CSMD1	64478	genome.wustl.edu	37	8	3265427	3265427	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr8:3265427delA	ENST00000520002.1	-	15	2623	c.2068delT	c.(2068-2070)tacfs	p.Y690fs	CSMD1_ENST00000537824.1_Frame_Shift_Del_p.Y689fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.Y690fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.Y690fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.Y689fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.Y690fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.Y689fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	690	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.Y689D(1)|p.Y418D(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTACTGGTGTAAGTGATGTTG	0.443																																						dbGAP											2	Substitution - Missense(2)	lung(2)											63.0	59.0	60.0					8																	3265427		1977	4162	6139	-	-	-	SO:0001589	frameshift_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2068delT	8.37:g.3265427delA	ENSP00000430733:p.Tyr690fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.Y690fs	ENST00000520002.1	37	c.2068		8																																																																																			CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000183117		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	19	0.00	0	A	NM_033225		3265427	3265427	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	frame_shift_del	2	50.00	2	DEL	0.993	-
CTNNA2	1496	genome.wustl.edu	37	2	80085281	80085281	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr2:80085281G>A	ENST00000402739.4	+	3	446	c.441G>A	c.(439-441)atG>atA	p.M147I	CTNNA2_ENST00000361291.4_Missense_Mutation_p.M181I|CTNNA2_ENST00000496558.1_Missense_Mutation_p.M147I|CTNNA2_ENST00000466387.1_Missense_Mutation_p.M147I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M147I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M147I	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	147					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAGATGTCATGAGACTTTTAT	0.498																																						dbGAP											0													65.0	64.0	64.0					2																	80085281		2013	4180	6193	-	-	-	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.441G>A	2.37:g.80085281G>A	ENSP00000384638:p.Met147Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.M181I	ENST00000402739.4	37	c.543		2	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886337	0.51908	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.67	5.67	0.87782	.	0.049329	0.85682	D	0.000000	T	0.30262	0.0759	N	0.19112	0.55	0.47819	D	0.99952	B;B;B	0.18741	0.002;0.03;0.03	B;B;B	0.23018	0.004;0.007;0.043	T	0.04664	-1.0935	10	0.46703	T	0.11	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	147;147;147	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	I	147;147;181;147;147;147	ENSP00000418191:M147I;ENSP00000419295:M147I;ENSP00000355398:M181I;ENSP00000384638:M147I;ENSP00000444675:M147I;ENSP00000441705:M147I	ENSP00000355398:M181I	M	+	3	0	CTNNA2	79938789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.424000	0.66464	2.677000	0.91161	0.655000	0.94253	ATG	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.498	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	49	0.00	0	G	NM_004389		80085281	80085281	+1	no_errors	ENST00000361291	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	1.000	A
CTSH	1512	genome.wustl.edu	37	15	79229660	79229661	+	Splice_Site	DEL	TT	TT	-			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr15:79229660_79229661delTT	ENST00000220166.5	-	3	337_338	c.228_229delAA	c.(226-231)aaaatg>aatg	p.KM76fs	CTSH_ENST00000534533.1_5'Flank	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	76					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TTCCACGTACTTTTAAATGTGT	0.554																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"""Cathepsins"""	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.229+1AA>-	15.37:g.79229662_79229663delTT		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBK0|Q96NY6|Q9BUM7	Frame_Shift_Del	DEL	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.K76fs	ENST00000220166.5	37	c.229_228	CCDS10308.1	15																																																																																			CTSH	-	pfam_Prot_inhib_I29,smart_Prot_inhib_I29	ENSG00000103811		0.554	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSH	HGNC	protein_coding	OTTHUMT00000291370.1	63	0.00	0	TT	NM_004390	Frame_Shift_Del	79229660	79229661	-1	no_errors	ENST00000220166	ensembl	human	known	69_37n	frame_shift_del	37	11.36	5	DEL	0.995:0.935	-
CX3CL1	6376	genome.wustl.edu	37	16	57413657	57413657	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr16:57413657G>T	ENST00000006053.6	+	2	293	c.182G>T	c.(181-183)cGc>cTc	p.R61L	CX3CL1_ENST00000564948.1_Intron|CX3CL1_ENST00000565912.1_Missense_Mutation_p.R23L|CX3CL1_ENST00000563383.1_Missense_Mutation_p.R67L	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	61	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGCGGCAAACGCGCAATCATG	0.517																																						dbGAP											0													163.0	126.0	139.0					16																	57413657		2198	4300	6498	-	-	-	SO:0001583	missense	0			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.182G>T	16.37:g.57413657G>T	ENSP00000006053:p.Arg61Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O00672	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1	p.R61L	ENST00000006053.6	37	c.182	CCDS10779.1	16	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043512	0.19748	.	.	ENSG00000006210	ENST00000006053	T	0.05139	3.49	3.2	-3.27	0.05048	Chemokine interleukin-8-like domain (3);	1.893090	0.03115	N	0.163019	T	0.11793	0.0287	L	0.58810	1.83	0.09310	N	1	B	0.27732	0.187	B	0.31946	0.138	T	0.50136	-0.8863	10	0.87932	D	0	-9.5206	15.3959	0.74794	0.0:0.7293:0.2707:0.0	.	61	P78423	X3CL1_HUMAN	L	61	ENSP00000006053:R61L	ENSP00000006053:R61L	R	+	2	0	CX3CL1	55971158	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.839000	0.04368	-0.585000	0.05905	-0.480000	0.04831	CGC	CX3CL1	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1	ENSG00000006210		0.517	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	HGNC	protein_coding	OTTHUMT00000257345.3	64	0.00	0	G	NM_002996		57413657	57413657	+1	no_errors	ENST00000006053	ensembl	human	known	69_37n	missense	16	42.86	12	SNP	0.000	T
DSPP	1834	genome.wustl.edu	37	4	88536919	88536919	+	Silent	SNP	T	T	C	rs369387818		TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr4:88536919T>C	ENST00000282478.7	+	4	3138	c.3105T>C	c.(3103-3105)gaT>gaC	p.D1035D	DSPP_ENST00000399271.1_Silent_p.D1035D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1035	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.D1035D(2)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagcgatagcagtgaca	0.517																																						dbGAP											2	Substitution - coding silent(2)	kidney(2)											63.0	70.0	67.0					4																	88536919		1560	2747	4307	-	-	-	SO:0001819	synonymous_variant	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3105T>C	4.37:g.88536919T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUI0|O95815	Silent	SNP	NULL	p.D1035	ENST00000282478.7	37	c.3105	CCDS43248.1	4																																																																																			DSPP	-	NULL	ENSG00000152591		0.517	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	58	0.00	0	T	NM_014208		88536919	88536919	+1	no_errors	ENST00000282478	ensembl	human	known	69_37n	silent	30	29.55	13	SNP	0.954	C
ENG	2022	genome.wustl.edu	37	9	130580444	130580444	+	Silent	SNP	G	G	A			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr9:130580444G>A	ENST00000373203.4	-	12	2041	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000344849.3_Silent_p.L547L|ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000439298.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	547	Ser/Thr-rich.		L -> P (in HHT1). {ECO:0000269|PubMed:16752392}.		artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CCGTGCAGCTGAGGGTGCCGG	0.637									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													dbGAP											0													71.0	65.0	67.0					9																	130580444		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1641C>T	9.37:g.130580444G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14248|Q14926|Q5T9C0	Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105	p.L547	ENST00000373203.4	37	c.1641	CCDS48029.1	9																																																																																			ENG	-	pfam_Zona_pellucida_Endoglin/CD105	ENSG00000106991		0.637	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENG	HGNC	protein_coding	OTTHUMT00000054313.1	88	0.00	0	G			130580444	130580444	-1	no_errors	ENST00000373203	ensembl	human	known	69_37n	silent	48	30.43	21	SNP	0.995	A
ETV5	2119	genome.wustl.edu	37	3	185797727	185797727	+	Missense_Mutation	SNP	C	C	G	rs185636057	byFrequency	TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr3:185797727C>G	ENST00000306376.5	-	7	775	c.529G>C	c.(529-531)Gcc>Ccc	p.A177P	ETV5_ENST00000434744.1_Missense_Mutation_p.A177P|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000537818.1_Missense_Mutation_p.A219P	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	177					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GAATGGGGGGCGGGGGCGGGG	0.622			T	"""TMPRSS2, SCL45A3"""	Prostate																																	dbGAP		Dom	yes		3	3q28	2119	ets variant gene 5		E	0													44.0	52.0	49.0					3																	185797727		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.529G>C	3.37:g.185797727C>G	ENSP00000306894:p.Ala177Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.A219P	ENST00000306376.5	37	c.655	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	C	6.963	0.547526	0.13312	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.10477	2.88;2.88;2.87	5.32	-2.83	0.05769	PEA3-type ETS-domain transcription factor, N-terminal (1);	2.223100	0.01467	N	0.016113	T	0.09862	0.0242	N	0.22421	0.69	0.26066	N	0.981285	B;B	0.30889	0.299;0.169	B;B	0.33620	0.117;0.167	T	0.33854	-0.9852	10	0.27785	T	0.31	.	12.5188	0.56048	0.0:0.7845:0.0:0.2155	.	177;219	P41161;B7Z7D7	ETV5_HUMAN;.	P	177;177;219	ENSP00000306894:A177P;ENSP00000413755:A177P;ENSP00000441737:A219P	ENSP00000306894:A177P	A	-	1	0	ETV5	187280421	0.000000	0.05858	0.211000	0.23655	0.133000	0.20885	-0.108000	0.10857	-0.710000	0.05001	-0.244000	0.11960	GCC	ETV5	-	pfam_ETS_PEA3_N	ENSG00000244405		0.622	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	40	0.00	0	C	NM_004454		185797727	185797727	-1	no_errors	ENST00000537818	ensembl	human	known	69_37n	missense	20	54.55	24	SNP	0.799	G
FAM86B1	85002	genome.wustl.edu	37	8	12040822	12040822	+	3'UTR	SNP	A	A	G			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr8:12040822A>G	ENST00000448228.2	-	0	1233				AC145124.1_ENST00000579282.1_RNA|FAM86B1_ENST00000321602.8_3'UTR|FAM86B1_ENST00000533852.2_3'UTR	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1											kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		GGGGAACGTCATCCTTGATAC	0.463																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.*293T>C	8.37:g.12040822A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000448228.2	37	NULL	CCDS59512.1	8																																																																																			FAM86B1	-	-	ENSG00000186523		0.463	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	FAM86B1	HGNC	protein_coding	OTTHUMT00000383317.1	29	0.00	0	A	NM_032916		12040822	12040822	-1	no_errors	ENST00000529146	ensembl	human	known	69_37n	rna	14	17.65	3	SNP	0.001	G
FAT1	2195	genome.wustl.edu	37	4	187521114	187521114	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr4:187521114G>A	ENST00000441802.2	-	22	12250	c.12041C>T	c.(12040-12042)aCg>aTg	p.T4014M	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4014	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCAGTCTTCCGTGGCCGTCAG	0.532										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													76.0	78.0	78.0					4																	187521114		1997	4159	6156	-	-	-	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12041C>T	4.37:g.187521114G>A	ENSP00000406229:p.Thr4014Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.T4014M	ENST00000441802.2	37	c.12041	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	9.914	1.210291	0.22289	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.54071	0.59	5.0	4.15	0.48705	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.231220	0.44483	D	0.000445	T	0.43100	0.1232	L	0.37630	1.12	0.09310	N	1	P	0.41524	0.753	B	0.38616	0.277	T	0.45877	-0.9231	10	0.48119	T	0.1	.	14.315	0.66443	0.0751:0.0:0.9248:0.0	.	4014	Q14517	FAT1_HUMAN	M	4014;4016	ENSP00000406229:T4014M	ENSP00000260147:T4016M	T	-	2	0	FAT1	187758108	0.728000	0.28080	0.009000	0.14445	0.056000	0.15407	3.415000	0.52700	2.756000	0.94617	0.655000	0.94253	ACG	FAT1	-	pfscan_EG-like_dom	ENSG00000083857		0.532	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	74	0.00	0	G	NM_005245		187521114	187521114	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	53	11.67	7	SNP	0.042	A
FBXO33	254170	genome.wustl.edu	37	14	39900893	39900893	+	Silent	SNP	A	A	C	rs567902786		TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr14:39900893A>C	ENST00000298097.7	-	1	811	c.474T>G	c.(472-474)ggT>ggG	p.G158G	FBXO33_ENST00000554190.1_Silent_p.G30G	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	158					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TGTCCGCGCCACCTCCGTCCC	0.642																																						dbGAP											0													35.0	41.0	39.0					14																	39900893		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.474T>G	14.37:g.39900893A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PIR2|Q86TR2|Q86YE0	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.G158	ENST00000298097.7	37	c.474	CCDS9677.1	14																																																																																			FBXO33	-	NULL	ENSG00000165355		0.642	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO33	HGNC	protein_coding	OTTHUMT00000276769.2	60	0.00	0	A			39900893	39900893	-1	no_errors	ENST00000298097	ensembl	human	known	69_37n	silent	18	43.75	14	SNP	0.805	C
ACOXL	55289	genome.wustl.edu	37	2	111858670	111858670	+	Intron	SNP	C	C	A			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr2:111858670C>A	ENST00000439055.1	+	17	1766				AC096670.3_ENST00000376593.2_RNA	NM_001142807.1	NP_001136279.1	Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like						fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGGAAGAATGCGCAGAAGTGT	0.448																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000439055.1:c.1542+8127C>A	2.37:g.111858670C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	RNA	SNP	-	NULL	ENST00000439055.1	37	NULL	CCDS46389.1	2																																																																																			AC096670.3	-	-	ENSG00000204581		0.448	ACOXL-013	KNOWN	basic|CCDS	protein_coding	FLJ44006	Clone_based_vega_gene	protein_coding	OTTHUMT00000376017.1	62	0.00	0	C	NM_018308		111858670	111858670	-1	no_errors	ENST00000376593	ensembl	human	known	69_37n	rna	27	18.18	6	SNP	0.000	A
FOXP1	27086	genome.wustl.edu	37	3	71096185	71096185	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr3:71096185A>T	ENST00000318789.4	-	10	1097	c.572T>A	c.(571-573)tTa>tAa	p.L191*	FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.L115*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.L191*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.L191*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.L191*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.L193*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.L191*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	191	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTGCTGCTGTAACTGCTGCAT	0.527			T	PAX5	ALL																																	dbGAP		Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													122.0	122.0	122.0					3																	71096185		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.572T>A	3.37:g.71096185A>T	ENSP00000318902:p.Leu191*	Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Nonsense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L191*	ENST00000318789.4	37	c.572	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	A	37	6.255235	0.97417	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	.	.	.	6.03	6.03	0.97812	.	0.220156	0.35124	N	0.003424	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	.	.	.	X	191;91;191;191;87;193;191;191;115;191;91;91	.	ENSP00000318902:L191X	L	-	2	0	FOXP1	71178875	1.000000	0.71417	0.616000	0.29078	0.974000	0.67602	8.435000	0.90297	2.302000	0.77476	0.533000	0.62120	TTA	FOXP1	-	NULL	ENSG00000114861		0.527	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	39	0.00	0	A	NM_032682		71096185	71096185	-1	no_errors	ENST00000318789	ensembl	human	known	69_37n	nonsense	21	32.26	10	SNP	0.873	T
GPRIN2	9721	genome.wustl.edu	37	10	46999484	46999484	+	Missense_Mutation	SNP	G	G	T	rs11204658	byFrequency	TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr10:46999484G>T	ENST00000374317.1	+	3	877	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	GPRIN2_ENST00000374314.4_Missense_Mutation_p.G202W	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	202			G -> W (in dbSNP:rs11204658).							breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						ACTAGACCTGGGGGACACAAC	0.617																																						dbGAP											0													38.0	38.0	38.0					10																	46999484		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.604G>T	10.37:g.46999484G>T	ENSP00000363436:p.Gly202Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SVF0	Missense_Mutation	SNP	NULL	p.G202W	ENST00000374317.1	37	c.604	CCDS31192.1	10	1025	0.4693223443223443	194	0.3943089430894309	176	0.4861878453038674	283	0.49475524475524474	372	0.49076517150395776	G	11.42	1.633532	0.29068	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03580	3.88;3.88	5.11	5.11	0.69529	.	0.653664	0.13545	N	0.379905	T	0.00012	0.0000	L	0.51422	1.61	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.40270	-0.9572	10	0.59425	D	0.04	-0.6036	14.4133	0.67132	0.0:0.0:1.0:0.0	rs11204658	202	O60269	GRIN2_HUMAN	W	202	ENSP00000363436:G202W;ENSP00000363433:G202W	ENSP00000363433:G202W	G	+	1	0	GPRIN2	46419490	0.003000	0.15002	0.008000	0.14137	0.023000	0.10783	1.454000	0.35178	2.564000	0.86499	0.555000	0.69702	GGG	GPRIN2	-	NULL	ENSG00000204175		0.617	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	86	0.00	0	G	NM_014696		46999484	46999484	+1	no_errors	ENST00000374314	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	0.015	T
HNRNPR	10236	genome.wustl.edu	37	1	23640179	23640182	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	ACAA	ACAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr1:23640179_23640182delACAA	ENST00000374612.1	-	9	1154_1157	c.1031_1034delTTGT	c.(1030-1035)tttgtgfs	p.FV344fs	HNRNPR_ENST00000478691.1_Frame_Shift_Del_p.FV246fs|HNRNPR_ENST00000606561.1_Frame_Shift_Del_p.FV205fs|HNRNPR_ENST00000374616.3_Frame_Shift_Del_p.FV347fs|HNRNPR_ENST00000427764.2_Frame_Shift_Del_p.FV306fs|HNRNPR_ENST00000476660.1_5'Flank|HNRNPR_ENST00000302271.6_Frame_Shift_Del_p.FV344fs|HNRNPR_ENST00000426846.2_Frame_Shift_Del_p.FV184fs	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	344	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAAGTTTCTCACAAACAAAACTTT	0.324																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1031_1034delTTGT	1.37:g.23640183_23640186delACAA	ENSP00000363741:p.Phe344fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.F347fs	ENST00000374612.1	37	c.1043_1040	CCDS232.1	1																																																																																			HNRNPR	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000125944		0.324	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	53	0.00	0	ACAA	NM_005826		23640179	23640182	-1	no_errors	ENST00000374616	ensembl	human	known	69_37n	frame_shift_del	48	10.91	6	DEL	1.000:1.000:1.000:1.000	-
KCNH4	23415	genome.wustl.edu	37	17	40322248	40322248	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr17:40322248G>A	ENST00000264661.3	-	8	1599	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	KCNH4_ENST00000607371.1_Missense_Mutation_p.R423C	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	423					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)		TAGGCGCTGCGCCGTGATGGG	0.617																																					NSCLC(117;707 1703 2300 21308 31858)	dbGAP											0													58.0	46.0	50.0					17																	40322248		2203	4300	6503	-	-	-	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.1267C>T	17.37:g.40322248G>A	ENSP00000264661:p.Arg423Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.R423C	ENST00000264661.3	37	c.1267	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020513	0.54576	.	.	ENSG00000089558	ENST00000264661	D	0.98419	-4.92	3.96	3.96	0.45880	Ion transport (1);	0.000000	0.37304	N	0.002150	D	0.98623	0.9539	M	0.80982	2.52	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	D	0.98799	1.0739	10	0.72032	D	0.01	.	11.7572	0.51882	0.0:0.0:0.8237:0.1763	.	423	Q9UQ05	KCNH4_HUMAN	C	423	ENSP00000264661:R423C	ENSP00000264661:R423C	R	-	1	0	KCNH4	37575774	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	5.202000	0.65169	2.195000	0.70347	0.313000	0.20887	CGC	KCNH4	-	pfam_Ion_trans_dom	ENSG00000089558		0.617	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	53	0.00	0	G	NM_012285		40322248	40322248	-1	no_errors	ENST00000264661	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	1.000	A
LINC00304	283860	genome.wustl.edu	37	16	89226651	89226651	+	lincRNA	SNP	G	G	A			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr16:89226651G>A	ENST00000321214.2	+	0	373					NR_024347.2		Q8N9R0	CP081_HUMAN	long intergenic non-protein coding RNA 304																		TACTGAGCCCGCCCTGCTGGG	0.667																																						dbGAP											0																																										-	-	-			0			AK094020		16q24.3	2012-11-19	2011-08-10	2011-08-10	ENSG00000180422	ENSG00000180422		"""Long non-coding RNAs"""	26713	non-coding RNA	RNA, long non-coding			"""chromosome 16 open reading frame 81"", ""non-protein coding RNA 304"""	C16orf81, NCRNA00304			Standard	NR_024347		Approved	FLJ36701	uc002fms.3	Q8N9R0	OTTHUMG00000175524		16.37:g.89226651G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000321214.2	37	NULL		16																																																																																			LINC00304	-	-	ENSG00000180422		0.667	LINC00304-001	KNOWN	basic	lincRNA	LINC00304	HGNC	lincRNA	OTTHUMT00000430368.1	39	0.00	0	G	NR_024347		89226651	89226651	+1	no_errors	ENST00000321214	ensembl	human	known	69_37n	rna	22	24.14	7	SNP	0.014	A
LMO7	4008	genome.wustl.edu	37	13	76409442	76409442	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr13:76409442delA	ENST00000321797.8	+	16	3322	c.2601delA	c.(2599-2601)gtafs	p.V867fs	LMO7_ENST00000465261.2_Frame_Shift_Del_p.V867fs|LMO7_ENST00000357063.3_Frame_Shift_Del_p.V1152fs|LMO7_ENST00000377534.3_Frame_Shift_Del_p.V1152fs|LMO7_ENST00000341547.4_Frame_Shift_Del_p.V818fs|LMO7_ENST00000526202.1_Frame_Shift_Del_p.V744fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	1152					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)		ATCTATCTGTAACAACTGATT	0.383																																						dbGAP											0													84.0	85.0	85.0					13																	76409442		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	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	ENST00000321797.8:c.2601delA	13.37:g.76409442delA	ENSP00000317802:p.Val867fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Frame_Shift_Del	DEL	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.T1153fs	ENST00000321797.8	37	c.3456		13																																																																																			LMO7	-	NULL	ENSG00000136153		0.383	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	37	0.00	0	A	NM_005358		76409442	76409442	+1	no_errors	ENST00000357063	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	0.000	-
MAD2L1	4085	genome.wustl.edu	37	4	120986906	120986906	+	Silent	SNP	C	C	T			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr4:120986906C>T	ENST00000296509.6	-	2	480	c.141G>A	c.(139-141)caG>caA	p.Q47Q	RP11-679C8.2_ENST00000504106.1_RNA|RP11-679C8.2_ENST00000508362.1_RNA|RP11-679C8.2_ENST00000503073.1_RNA|RP11-679C8.2_ENST00000511064.1_RNA	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	47	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						GTCCGTATTTCTGCACTCGAG	0.363																																						dbGAP											0													89.0	85.0	86.0					4																	120986906		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.141G>A	4.37:g.120986906C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53F56|Q548X9|Q6IRW7|Q8IZX3	Silent	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.Q47	ENST00000296509.6	37	c.141	CCDS3715.1	4																																																																																			MAD2L1	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000164109		0.363	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L1	HGNC	protein_coding	OTTHUMT00000256525.2	70	0.00	0	C			120986906	120986906	-1	no_errors	ENST00000296509	ensembl	human	known	69_37n	silent	41	22.64	12	SNP	1.000	T
MAP7D2	256714	genome.wustl.edu	37	X	20043896	20043896	+	Silent	SNP	G	G	A			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chrX:20043896G>A	ENST00000379651.3	-	8	1077	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G	MAP7D2_ENST00000443379.3_Silent_p.G308G|MAP7D2_ENST00000379643.5_Silent_p.G394G|MAP7D2_ENST00000543767.1_Silent_p.G238G|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000452324.3_Silent_p.G301G	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	353					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CTCCTTGCGGGCCAGCAGCCT	0.567																																						dbGAP											0													191.0	158.0	169.0					X																	20043896		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1059C>T	X.37:g.20043896G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	pfam_E-MAP-115	p.G394	ENST00000379651.3	37	c.1182	CCDS14195.1	X																																																																																			MAP7D2	-	NULL	ENSG00000184368		0.567	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	118	0.00	0	G	NM_152780		20043896	20043896	-1	no_errors	ENST00000379643	ensembl	human	known	69_37n	silent	67	16.25	13	SNP	0.000	A
KMT2C	58508	genome.wustl.edu	37	7	151868358	151868358	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr7:151868358delG	ENST00000262189.6	-	40	9662	c.9444delC	c.(9442-9444)gccfs	p.A3148fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.A3148fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3148	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCTGAGGAATGGCCTGTGGTC	0.478																																						dbGAP											0													181.0	141.0	155.0					7																	151868358		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9444delC	7.37:g.151868358delG	ENSP00000262189:p.Ala3148fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.I3149fs	ENST00000262189.6	37	c.9444	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.478	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	48	0.00	0	G			151868358	151868358	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_del	26	35.00	14	DEL	0.003	-
KMT2C	58508	genome.wustl.edu	37	7	151868360	151868360	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr7:151868360C>A	ENST00000262189.6	-	40	9660	c.9442G>T	c.(9442-9444)Gcc>Tcc	p.A3148S	KMT2C_ENST00000355193.2_Missense_Mutation_p.A3148S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3148	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGAGGAATGGCCTGTGGTCCA	0.473																																						dbGAP											0													184.0	143.0	157.0					7																	151868360		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9442G>T	7.37:g.151868360C>A	ENSP00000262189:p.Ala3148Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A3148S	ENST00000262189.6	37	c.9442	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.681|6.681	0.494187|0.494187	0.12702|0.12702	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.83419|.	-1.72;-1.72|.	5.86|5.86	2.97|2.97	0.34412|0.34412	.|.	0.000000|.	0.43747|.	D|.	0.000528|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26081|.	0.002;0.0;0.141|.	B;B;B|.	0.20184|.	0.002;0.008;0.028|.	T|T	0.50398|0.50398	-0.8833|-0.8833	10|5	0.23302|.	T|.	0.38|.	.|.	10.2168|10.2168	0.43173|0.43173	0.0:0.7737:0.0:0.2263|0.0:0.7737:0.0:0.2263	.|.	3148;2209;3148|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	S|V	3148|653	ENSP00000262189:A3148S;ENSP00000347325:A3148S|.	ENSP00000262189:A3148S|.	A|G	-|-	1|2	0|0	MLL3|MLL3	151499293|151499293	0.993000|0.993000	0.37304|0.37304	0.356000|0.356000	0.25785|0.25785	0.014000|0.014000	0.08584|0.08584	0.721000|0.721000	0.25911|0.25911	0.762000|0.762000	0.33152|0.33152	0.655000|0.655000	0.94253|0.94253	GCC|GGC	MLL3	-	NULL	ENSG00000055609		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	51	0.00	0	C			151868360	151868360	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	25	35.90	14	SNP	0.950	A
MRE11A	4361	genome.wustl.edu	37	11	94163112	94163112	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr11:94163112G>T	ENST00000323929.3	-	19	2257	c.2035C>A	c.(2035-2037)Caa>Aaa	p.Q679K	MRE11A_ENST00000323977.3_Missense_Mutation_p.Q651K|MRE11A_ENST00000393241.4_Missense_Mutation_p.Q678K|MRE11A_ENST00000407439.3_Missense_Mutation_p.Q682K	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	679					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TTCGATACTTGACTCTGGGAC	0.313								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													dbGAP											0													81.0	71.0	75.0					11																	94163112		2201	4298	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.2035C>A	11.37:g.94163112G>T	ENSP00000325863:p.Gln679Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43475	Missense_Mutation	SNP	pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.Q679K	ENST00000323929.3	37	c.2035	CCDS8299.1	11	.	.	.	.	.	.	.	.	.	.	G	7.123	0.578374	0.13686	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.76448	-0.83;-0.83;-1.02;-0.83	5.19	4.28	0.50868	.	0.067700	0.64402	D	0.000012	T	0.66665	0.2812	L	0.38531	1.155	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.11329	0.006;0.0;0.006	T	0.59789	-0.7388	10	0.20519	T	0.43	-3.9229	11.5612	0.50778	0.0:0.0:0.8215:0.1785	.	682;651;679	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	K	679;682;651;678	ENSP00000325863:Q679K;ENSP00000385614:Q682K;ENSP00000326094:Q651K;ENSP00000376933:Q678K	ENSP00000325863:Q679K	Q	-	1	0	MRE11A	93802760	1.000000	0.71417	0.802000	0.32245	0.007000	0.05969	3.314000	0.51943	1.325000	0.45301	0.467000	0.42956	CAA	MRE11A	-	pirsf_DNA_repair_Mre11	ENSG00000020922		0.313	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3	61	0.00	0	G	NM_005591		94163112	94163112	-1	no_errors	ENST00000323929	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	0.943	T
MSR1	4481	genome.wustl.edu	37	8	16043667	16043667	+	Intron	SNP	C	C	T	rs435815	byFrequency	TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr8:16043667C>T	ENST00000262101.5	-	1	118				MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Splice_Site|MSR1_ENST00000350896.3_Intron|MSR1_ENST00000381998.4_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1						cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTCATGCTCACGGTTTTTTGT	0.388													T|||	1994	0.398163	0.5144	0.4222	5008	,	,		18292	0.5397		0.1282	False		,,,				2504	0.3558					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.3+6439G>A	8.37:g.16043667C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSP3|O60505|P21759|Q45F10	Splice_Site	SNP	-	e1+1	ENST00000262101.5	37	c.50+1	CCDS5995.1	8	801	0.36675824175824173	271	0.5508130081300813	131	0.36187845303867405	305	0.5332167832167832	94	0.12401055408970976	T	1.782	-0.481739	0.04383	.	.	ENSG00000038945	ENST00000445506	.	.	.	2.64	0.0538	0.14308	.	.	.	.	.	.	.	.	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.5271	0.04694	0.4208:0.1308:0.0:0.4484	rs435815;rs56552271;rs435815	.	.	.	.	-1	.	.	.	-	.	.	MSR1	16088038	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.810000	0.04505	-0.292000	0.08999	-0.381000	0.06696	.	MSR1	-	-	ENSG00000038945		0.388	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2	64	0.00	0	C			16043667	16043667	-1	no_errors	ENST00000445506	ensembl	human	putative	69_37n	splice_site	18	18.18	4	SNP	0.001	T
MTPAP	55149	genome.wustl.edu	37	10	30653864	30653864	+	Silent	SNP	A	A	C			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr10:30653864A>C	ENST00000358107.4	-	2	317	c.318T>G	c.(316-318)ggT>ggG	p.G106G	MTPAP_ENST00000488290.1_5'UTR|AL161651.1_ENST00000408070.1_RNA|RN7SL241P_ENST00000482973.2_RNA			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ccccacccccacccccacAGA	0.652																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000358107.4:c.318T>G	10.37:g.30653864A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	pfam_PAP_assoc	p.G106	ENST00000358107.4	37	c.318		10																																																																																			MTPAP	-	NULL	ENSG00000107951		0.652	MTPAP-201	KNOWN	basic	protein_coding	MTPAP	HGNC	protein_coding		66	0.00	0	A	NM_018109		30653864	30653864	-1	no_errors	ENST00000358107	ensembl	human	known	69_37n	silent	17	50.00	18	SNP	0.011	C
N4BP2L1	90634	genome.wustl.edu	37	13	32976872	32976872	+	3'UTR	SNP	C	C	T			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr13:32976872C>T	ENST00000380130.2	-	0	1034				N4BP2L1_ENST00000380139.4_3'UTR|N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000380133.2_Intron|N4BP2L1_ENST00000530622.2_3'UTR	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		ttactcaaatctgcagaattc	0.333																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380130.2:c.*207G>A	13.37:g.32976872C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN21|Q5TBK0	RNA	SNP	-	NULL	ENST00000380130.2	37	NULL	CCDS9345.2	13																																																																																			N4BP2L1	-	-	ENSG00000139597		0.333	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2L1	HGNC	protein_coding		49	0.00	0	C	NM_052818		32976872	32976872	-1	no_errors	ENST00000459716	ensembl	human	known	69_37n	rna	71	16.47	14	SNP	0.037	T
NHS	4810	genome.wustl.edu	37	X	17705940	17705940	+	Missense_Mutation	SNP	T	T	C	rs201401939		TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chrX:17705940T>C	ENST00000380060.3	+	2	982	c.644T>C	c.(643-645)cTc>cCc	p.L215P	NHS_ENST00000398097.3_Missense_Mutation_p.L38P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	215	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.L215P(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AACATCTTCCTCCCAGCCACA	0.637																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											79.0	68.0	71.0					X																	17705940		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.644T>C	X.37:g.17705940T>C	ENSP00000369400:p.Leu215Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.L215P	ENST00000380060.3	37	c.644	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664386	0.67700	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.55234	0.56;0.53	5.63	5.63	0.86233	.	0.472558	0.22547	N	0.058653	T	0.69504	0.3118	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.56968	0.978;0.978;0.978;0.978	P;P;P;P	0.56700	0.804;0.804;0.804;0.804	T	0.74556	-0.3626	10	0.72032	D	0.01	-6.5493	14.8143	0.70020	0.0:0.0:0.0:1.0	.	215;36;38;215	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	P	215;38;36	ENSP00000369400:L215P;ENSP00000381170:L38P	ENSP00000369397:L36P	L	+	2	0	NHS	17615861	0.999000	0.42202	0.983000	0.44433	0.857000	0.48899	3.266000	0.51569	1.880000	0.54463	0.417000	0.27973	CTC	NHS	-	NULL	ENSG00000188158		0.637	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	236	0.84	2	T	NM_198270		17705940	17705940	+1	no_errors	ENST00000380060	ensembl	human	known	69_37n	missense	116	21.62	32	SNP	0.994	C
NHS	4810	genome.wustl.edu	37	X	17705956	17705956	+	Silent	SNP	A	A	C			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chrX:17705956A>C	ENST00000380060.3	+	2	998	c.660A>C	c.(658-660)ccA>ccC	p.P220P	NHS_ENST00000398097.3_Silent_p.P43P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	220	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCACAAGGCCACCCTGCGTGG	0.637																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.660A>C	X.37:g.17705956A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	NULL	p.P220	ENST00000380060.3	37	c.660	CCDS14181.1	X																																																																																			NHS	-	NULL	ENSG00000188158		0.637	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	217	0.46	1	A	NM_198270		17705956	17705956	+1	no_errors	ENST00000380060	ensembl	human	known	69_37n	silent	94	29.85	40	SNP	0.039	C
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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)	p.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	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_Ca/lipid-bd_dom_CaLB,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.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	59	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	33	28.26	13	SNP	1.000	A
PMEPA1	56937	genome.wustl.edu	37	20	56284592	56284593	+	In_Frame_Ins	INS	-	-	CGG	rs546397966	byFrequency	TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr20:56284592_56284593insCGG	ENST00000341744.3	-	1	365_366	c.46_47insCCG	c.(46-48)ggg>gCCGgg	p.15_16insA	PMEPA1_ENST00000347215.4_Intron|PMEPA1_ENST00000395816.3_Intron|PMEPA1_ENST00000472841.1_Intron|PMEPA1_ENST00000265626.4_Intron	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	15					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						ATTGGGCTgcccggcggcggcg	0.733														12	0.00239617	0.0091	0.0	5008	,	,		4041	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.44_46dupCCG	20.37:g.56284599_56284601dupCGG	ENSP00000345826:p.Ala15_Ala15dup	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDR6|Q8NER4|Q96B72|Q9UJD3	In_Frame_Ins	INS	NULL	p.16in_frame_insA	ENST00000341744.3	37	c.47_46	CCDS13463.1	20																																																																																			PMEPA1	-	NULL	ENSG00000124225		0.733	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEPA1	HGNC	protein_coding	OTTHUMT00000079858.2	8	0.00	0	-	NM_020182		56284592	56284593	-1	no_errors	ENST00000341744	ensembl	human	known	69_37n	in_frame_ins	3	50.00	3	INS	0.998:0.994	CGG
PPP2R3A	5523	genome.wustl.edu	37	3	135745748	135745748	+	Silent	SNP	T	T	G			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr3:135745748T>G	ENST00000264977.3	+	3	2687	c.2070T>G	c.(2068-2070)ccT>ccG	p.P690P	PPP2R3A_ENST00000334546.2_Silent_p.P69P|PPP2R3A_ENST00000492624.2_5'Flank|PPP2R3A_ENST00000490467.1_5'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	690	Pro-rich.				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						GTCCCCGACCTCTCTCCCCGG	0.448																																						dbGAP											0													92.0	93.0	93.0					3																	135745748		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.2070T>G	3.37:g.135745748T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	pfscan_EF_HAND_2	p.P690	ENST00000264977.3	37	c.2070	CCDS3087.1	3																																																																																			PPP2R3A	-	NULL	ENSG00000073711		0.448	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	53	0.00	0	T	NM_002718		135745748	135745748	+1	no_errors	ENST00000264977	ensembl	human	known	69_37n	silent	25	24.24	8	SNP	0.829	G
PTMS	5763	genome.wustl.edu	37	12	6879662	6879662	+	3'UTR	SNP	T	T	G			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr12:6879662T>G	ENST00000309083.6	+	0	692				LAG3_ENST00000203629.2_5'Flank|PTMS_ENST00000538057.1_3'UTR|PTMS_ENST00000389462.4_3'UTR|LAG3_ENST00000441671.2_5'Flank	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN	parathymosin						DNA replication (GO:0006260)|immune system process (GO:0002376)	nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|liver(1)	5						GAGGTGGGGGTGGGGGCAGCC	0.642																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS8560.1	12p13	2008-07-10				ENSG00000159335			9629	protein-coding gene	gene with protein product		168440				15716277	Standard	NM_002824		Approved	ParaT	uc001qqq.3	P20962		ENST00000309083.6:c.*54T>G	12.37:g.6879662T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000309083.6	37	NULL	CCDS8560.1	12																																																																																			PTMS	-	-	ENSG00000159335		0.642	PTMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTMS	HGNC	protein_coding	OTTHUMT00000402841.1	43	0.00	0	T			6879662	6879662	+1	no_errors	ENST00000538057	ensembl	human	known	69_37n	rna	25	35.90	14	SNP	0.040	G
QRICH2	84074	genome.wustl.edu	37	17	74300977	74300977	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr17:74300977delG	ENST00000262765.5	-	2	261	c.82delC	c.(82-84)cggfs	p.R28fs		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	28										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AATTGCTCCCGATCTTTGAAT	0.537																																						dbGAP											0													187.0	191.0	190.0					17																	74300977		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.82delC	17.37:g.74300977delG	ENSP00000262765:p.Arg28fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRE1|Q96LM3	Frame_Shift_Del	DEL	NULL	p.R28fs	ENST00000262765.5	37	c.82	CCDS32741.1	17																																																																																			QRICH2	-	NULL	ENSG00000129646		0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	44	0.00	0	G	NM_032134		74300977	74300977	-1	no_errors	ENST00000262765	ensembl	human	known	69_37n	frame_shift_del	31	20.51	8	DEL	0.000	-
RECQL5	9400	genome.wustl.edu	37	17	73661205	73661205	+	Silent	SNP	G	G	A			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr17:73661205G>A	ENST00000317905.5	-	3	337	c.178C>T	c.(178-180)Cta>Tta	p.L60L	RECQL5_ENST00000584999.1_Silent_p.L60L|SAP30BP_ENST00000584667.1_5'Flank|RECQL5_ENST00000423245.2_Intron|SAP30BP_ENST00000355423.3_5'Flank|RECQL5_ENST00000420326.2_Silent_p.L60L|RECQL5_ENST00000340830.5_Silent_p.L60L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	60	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			TGATAGCATAGGGATTTTCCT	0.463								Other identified genes with known or suspected DNA repair function																														dbGAP											0													193.0	169.0	177.0					17																	73661205		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.178C>T	17.37:g.73661205G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.L60	ENST00000317905.5	37	c.178	CCDS42380.1	17																																																																																			RECQL5	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000108469		0.463	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	47	0.00	0	G	NM_004259		73661205	73661205	-1	no_errors	ENST00000317905	ensembl	human	known	69_37n	silent	26	33.33	13	SNP	1.000	A
SEPT7P9	285961	genome.wustl.edu	37	10	38680623	38680623	+	RNA	SNP	G	G	A	rs2804626	byFrequency	TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr10:38680623G>A	ENST00000489259.1	-	0	483									septin 7 pseudogene 9																		GTAGTTCAACGTGAAAGCTAA	0.348													.|||	2474	0.49401	0.5257	0.536	5008	,	,		17020	0.5694		0.505	False		,,,				2504	0.3323					dbGAP											0																																										-	-	-			0					10p11.21	2013-04-02	2013-04-02	2013-04-02	ENSG00000120555	ENSG00000120555			30810	pseudogene	pseudogene			"""CDC10 cell division cycle 10 homolog (S. cerevisiae) like"", ""CDC10 cell division cycle 10 homolog (S. cerevisiae)-like"", ""septin 7-like"""	CDC10L, SEPT7L			Standard	NR_027269		Approved	bA291L22.2	uc009xmd.2		OTTHUMG00000017994		10.37:g.38680623G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000489259.1	37	NULL		10																																																																																			SEPT7L	-	-	ENSG00000120555		0.348	SEPT7P9-006	KNOWN	basic	processed_transcript	SEPT7L	HGNC	pseudogene	OTTHUMT00000047644.1	8	0.00	0	G	NR_027269		38680623	38680623	-1	no_errors	ENST00000468615	ensembl	human	known	69_37n	rna	3	50.00	3	SNP	0.006	A
SERPINB6	5269	genome.wustl.edu	37	6	2955875	2955875	+	Silent	SNP	A	A	C	rs80292933		TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr6:2955875A>C	ENST00000380520.1	-	2	2189	c.195T>G	c.(193-195)ggT>ggG	p.G65G	SERPINB6_ENST00000335686.5_Silent_p.G65G|SERPINB6_ENST00000380539.1_Silent_p.G65G|SERPINB6_ENST00000380529.1_Silent_p.G65G|SERPINB6_ENST00000380546.3_Silent_p.G65G|SERPINB6_ENST00000380524.1_Silent_p.G65G			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	65					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GGATGTCTCCACCACCGCCAC	0.458																																						dbGAP											0													41.0	45.0	44.0					6																	2955875		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.195T>G	6.37:g.2955875A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.V54G	ENST00000380520.1	37	c.161	CCDS4479.1	6	.	.	.	.	.	.	.	.	.	.	A	4.785	0.145922	0.09134	.	.	ENSG00000124570	ENST00000380500	.	.	.	3.59	-7.17	0.01511	.	.	.	.	.	T	0.06096	0.0158	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.25363	-1.0134	4	.	.	.	.	4.0069	0.09605	0.2147:0.1211:0.5064:0.1577	.	.	.	.	G	54	.	.	V	-	2	0	SERPINB6	2900874	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.383000	0.07398	-1.687000	0.01437	-0.411000	0.06167	GTG	SERPINB6	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000124570		0.458	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB6	HGNC	protein_coding	OTTHUMT00000043422.1	37	0.00	0	A			2955875	2955875	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000380500	ensembl	human	known	69_37n	missense	9	59.09	13	SNP	0.000	C
SIPA1L2	57568	genome.wustl.edu	37	1	232650900	232650900	+	Silent	SNP	A	A	C	rs146684449		TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr1:232650900A>C	ENST00000366630.1	-	2	544	c.186T>G	c.(184-186)ggT>ggG	p.G62G	SIPA1L2_ENST00000262861.4_Silent_p.G62G			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	62	Poly-Gly.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TAGCCGGACCACCACCGCCAG	0.478																																						dbGAP											0													68.0	73.0	71.0					1																	232650900		1919	4112	6031	-	-	-	SO:0001819	synonymous_variant	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.186T>G	1.37:g.232650900A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.G62	ENST00000366630.1	37	c.186	CCDS41474.1	1																																																																																			SIPA1L2	-	NULL	ENSG00000116991		0.478	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	75	0.00	0	A	XM_045839		232650900	232650900	-1	no_errors	ENST00000262861	ensembl	human	known	69_37n	silent	15	46.43	13	SNP	0.056	C
SPECC1L	23384	genome.wustl.edu	37	22	24718381	24718381	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr22:24718381T>G	ENST00000314328.9	+	5	1718	c.1433T>G	c.(1432-1434)gTc>gGc	p.V478G	SPECC1L_ENST00000437398.1_Missense_Mutation_p.V478G|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.V478G|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.V478G	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	478					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						ATTTCTTATGTCATAGATGAA	0.433																																						dbGAP											0													91.0	94.0	93.0					22																	24718381		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1433T>G	22.37:g.24718381T>G	ENSP00000325785:p.Val478Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_DNA-bd,smart_CH-domain,pfscan_CH-domain	p.V478G	ENST00000314328.9	37	c.1433	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	T	1.406	-0.576724	0.03854	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.06528	3.29;3.29;3.29;3.29	5.41	4.38	0.52667	.	0.313283	0.34959	N	0.003545	T	0.03608	0.0103	N	0.08118	0	0.33705	D	0.615101	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.16660	-1.0395	10	0.52906	T	0.07	-20.9355	7.8814	0.29624	0.0:0.1597:0.0:0.8403	.	478;478	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	G	506;478;478;478;478	ENSP00000393363:V478G;ENSP00000405671:V478G;ENSP00000325785:V478G;ENSP00000439633:V478G	ENSP00000325785:V478G	V	+	2	0	SPECC1L	23048381	0.981000	0.34729	0.802000	0.32245	0.813000	0.45954	1.278000	0.33179	0.903000	0.36546	0.482000	0.46254	GTC	SPECC1L	-	NULL	ENSG00000100014		0.433	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	50	0.00	0	T	NM_015330		24718381	24718381	+1	no_errors	ENST00000314328	ensembl	human	known	69_37n	missense	12	55.56	15	SNP	0.158	G
SSC5D	284297	genome.wustl.edu	37	19	56000809	56000809	+	Silent	SNP	C	C	T	rs142097230	byFrequency	TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr19:56000809C>T	ENST00000389623.6	+	3	164	c.141C>T	c.(139-141)gaC>gaT	p.D47D	SSC5D_ENST00000587166.1_Silent_p.D47D	NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	47	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						TGTGTGATGACGGCTGGGACC	0.761													c|||	42	0.00838658	0.0	0.0202	5008	,	,		10658	0.0		0.0229	False		,,,				2504	0.0051					dbGAP											0													4.0	6.0	6.0					19																	56000809		641	1523	2164	-	-	-	SO:0001819	synonymous_variant	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.141C>T	19.37:g.56000809C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.D47	ENST00000389623.6	37	c.141	CCDS46196.1	19																																																																																			SSC5D	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000179954		0.761	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	11	0.00	0	C	XM_001718392		56000809	56000809	+1	no_errors	ENST00000389623	ensembl	human	known	69_37n	silent	0	100.00	4	SNP	0.978	T
TPTE2P1	646405	genome.wustl.edu	37	13	25541467	25541467	+	RNA	SNP	C	C	T	rs2483380	byFrequency	TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr13:25541467C>T	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		GTCCTACCAGCGATGTTTCAG	0.328													N|||	2069	0.413139	0.3911	0.304	5008	,	,		17090	0.3442		0.4076	False		,,,				2504	0.5971					dbGAP											0																																										-	-	-			0					13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25541467C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KST4|B4DMH9	RNA	SNP	-	NULL	ENST00000429698.1	37	NULL		13																																																																																			TPTE2P1	-	-	ENSG00000253771		0.328	TPTE2P1-003	KNOWN	basic	processed_transcript	TPTE2P1	HGNC	pseudogene	OTTHUMT00000044206.1	46	0.00	0	C			25541467	25541467	-1	no_errors	ENST00000381871	ensembl	human	known	69_37n	rna	12	20.00	3	SNP	0.009	T
TMCO3	55002	genome.wustl.edu	37	13	114188430	114188430	+	Missense_Mutation	SNP	C	C	T	rs77834374		TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr13:114188430C>T	ENST00000434316.2	+	9	1773	c.1414C>T	c.(1414-1416)Ctt>Ttt	p.L472F	TMCO3_ENST00000375391.1_Intron|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	472						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)			GGCGGTTTTTCTTTTATGTCT	0.403																																						dbGAP											0													158.0	159.0	158.0					13																	114188430		2203	4300	6503	-	-	-	SO:0001583	missense	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.1414C>T	13.37:g.114188430C>T	ENSP00000389399:p.Leu472Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.L472F	ENST00000434316.2	37	c.1414	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667302	0.67814	.	.	ENSG00000150403	ENST00000434316	T	0.15952	2.38	4.75	4.75	0.60458	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	L	0.59912	1.85	0.80722	D	1	P;P	0.44006	0.707;0.824	P;B	0.47891	0.56;0.263	T	0.02026	-1.1227	10	0.40728	T	0.16	-0.4865	17.8175	0.88639	0.0:1.0:0.0:0.0	.	472;472	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	F	472	ENSP00000389399:L472F	ENSP00000389399:L472F	L	+	1	0	TMCO3	113236431	1.000000	0.71417	0.023000	0.16930	0.002000	0.02628	4.960000	0.63673	2.195000	0.70347	0.555000	0.69702	CTT	TMCO3	-	pfam_Cation/H_exchanger	ENSG00000150403		0.403	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	HGNC	protein_coding	OTTHUMT00000045931.3	73	0.00	0	C	NM_017905		114188430	114188430	+1	no_errors	ENST00000434316	ensembl	human	known	69_37n	missense	24	33.33	12	SNP	0.986	T
URGCP	55665	genome.wustl.edu	37	7	43916996	43916996	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr7:43916996C>T	ENST00000453200.1	-	6	2559	c.2066G>A	c.(2065-2067)cGg>cAg	p.R689Q	URGCP_ENST00000447717.3_Missense_Mutation_p.R646Q|URGCP_ENST00000336086.6_Missense_Mutation_p.R646Q|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.R646Q|URGCP_ENST00000223341.7_Missense_Mutation_p.R646Q|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Missense_Mutation_p.R680Q			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	689	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCCTTGACCGTCTCTCCAG	0.627																																						dbGAP											0													33.0	35.0	34.0					7																	43916996		2118	4231	6349	-	-	-	SO:0001583	missense	0				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2066G>A	7.37:g.43916996C>T	ENSP00000396918:p.Arg689Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	prints_GTP_binding_domain	p.R689Q	ENST00000453200.1	37	c.2066	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820596	0.50633	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	5.82	5.82	0.92795	.	0.426266	0.28510	N	0.015083	T	0.48095	0.1481	N	0.22421	0.69	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.48901	0.594;0.594	T	0.43556	-0.9384	10	0.28530	T	0.3	-43.1717	10.9368	0.47249	0.0:0.9154:0.0:0.0846	.	680;689	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	Q	646;646;680;646;689;646	ENSP00000223341:R646Q;ENSP00000336872:R646Q;ENSP00000384955:R680Q;ENSP00000392136:R646Q;ENSP00000396918:R689Q;ENSP00000402803:R646Q	ENSP00000223341:R646Q	R	-	2	0	URGCP	43883521	0.007000	0.16637	0.665000	0.29768	0.535000	0.34838	1.400000	0.34577	2.761000	0.94854	0.655000	0.94253	CGG	URGCP	-	NULL	ENSG00000106608		0.627	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	66	0.00	0	C	NM_001077664		43916996	43916996	-1	no_errors	ENST00000453200	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	0.006	T
TRPV5	56302	genome.wustl.edu	37	7	142622659	142622659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr7:142622659G>A	ENST00000265310.1	-	8	1435	c.1087C>T	c.(1087-1089)Cga>Tga	p.R363*	TRPV5_ENST00000442623.1_Nonsense_Mutation_p.R363*	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	363					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTGATGTCTCGAGAATGAGTG	0.522																																						dbGAP											0													105.0	94.0	98.0					7																	142622659		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1087C>T	7.37:g.142622659G>A	ENSP00000265310:p.Arg363*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV5_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.R363*	ENST00000265310.1	37	c.1087	CCDS5875.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.391515	0.97529	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	.	.	.	5.18	1.11	0.20524	.	0.848998	0.10322	N	0.688588	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.578	9.3221	0.37971	0.0726:0.0:0.3202:0.6072	.	.	.	.	X	363;308;363	.	ENSP00000265310:R363X	R	-	1	2	TRPV5	142332781	0.639000	0.27234	0.121000	0.21740	0.975000	0.68041	0.702000	0.25631	-0.014000	0.14175	0.655000	0.94253	CGA	TRPV5	-	tigrfam_TRP_channel	ENSG00000127412		0.522	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV5	HGNC	protein_coding	OTTHUMT00000347660.1	102	0.00	0	G	NM_019841		142622659	142622659	-1	no_errors	ENST00000265310	ensembl	human	known	69_37n	nonsense	48	14.29	8	SNP	0.229	A
XYLT1	64131	genome.wustl.edu	37	16	17292094	17292094	+	Silent	SNP	G	G	A			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr16:17292094G>A	ENST00000261381.6	-	5	1348	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	422					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCGCACTCAGGTTGATGAAG	0.627																																						dbGAP											0													81.0	70.0	74.0					16																	17292094		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1264C>T	16.37:g.17292094G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H1B6	Silent	SNP	pfam_XylT_met,pfam_Glyco_trans_14	p.L422	ENST00000261381.6	37	c.1264	CCDS10569.1	16																																																																																			XYLT1	-	pfam_Glyco_trans_14	ENSG00000103489		0.627	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2	39	0.00	0	G	NM_022166		17292094	17292094	-1	no_errors	ENST00000261381	ensembl	human	known	69_37n	silent	35	12.50	5	SNP	1.000	A
ZNF479	90827	genome.wustl.edu	37	7	57187740	57187740	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr7:57187740C>A	ENST00000331162.4	-	5	1652	c.1382G>T	c.(1381-1383)gGa>gTa	p.G461V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGGTCTCTCTCCAGTATGAAT	0.418																																						dbGAP											0													71.0	72.0	72.0					7																	57187740		2105	4239	6344	-	-	-	SO:0001583	missense	0			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1382G>T	7.37:g.57187740C>A	ENSP00000333776:p.Gly461Val	Somatic		WXS	Illumina GAIIx	Phase_IV		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.G461V	ENST00000331162.4	37	c.1382	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	c	10.70	1.423267	0.25639	.	.	ENSG00000185177	ENST00000331162	T	0.23552	1.9	0.955	0.955	0.19602	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45994	0.1370	M	0.79123	2.44	0.46874	D	0.999232	D	0.89917	1.0	D	0.97110	1.0	T	0.40701	-0.9549	9	0.66056	D	0.02	.	7.4593	0.27285	0.0:1.0:0.0:0.0	.	461	Q96JC4	ZN479_HUMAN	V	461	ENSP00000333776:G461V	ENSP00000333776:G461V	G	-	2	0	ZNF479	57191682	0.561000	0.26578	0.005000	0.12908	0.005000	0.04900	1.980000	0.40618	0.446000	0.26666	0.449000	0.29647	GGA	ZNF479	-	pfscan_Znf_C2H2	ENSG00000185177		0.418	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	75	0.00	0	C	XM_291202		57187740	57187740	-1	no_errors	ENST00000331162	ensembl	human	known	69_37n	missense	38	19.15	9	SNP	0.999	A
ZAN	7455	genome.wustl.edu	37	7	100349919	100349919	+	RNA	SNP	T	T	C	rs200193075	byFrequency	TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr7:100349919T>C	ENST00000348028.3	+	0	2356				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S731P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACAGAAAAATCCACCATCTC	0.517													N|||	80	0.0159744	0.0091	0.0144	5008	,	,		14946	0.0377		0.0159	False		,,,				2504	0.0041					dbGAP											1	Substitution - Missense(1)	skin(1)											141.0	157.0	152.0					7																	100349919		1822	4070	5892	-	-	-			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349919T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom	p.S731P	ENST00000348028.3	37	c.2191		7	.	.	.	.	.	.	.	.	.	.	N	4.049	0.006856	0.07866	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.64085	-0.08;-0.02;-0.08	3.93	-7.86	0.01187	.	.	.	.	.	T	0.34337	0.0894	N	0.02539	-0.55	0.19300	N	0.999976	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.61530	-0.7044	9	0.30078	T	0.28	.	16.8785	0.86058	0.1313:0.7109:0.0:0.1578	.	731;731	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	731	ENSP00000445943:S731P;ENSP00000445091:S731P;ENSP00000444427:S731P	ENSP00000423579:S731P	S	+	1	0	ZAN	100187855	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-10.783000	0.00005	-6.293000	0.00005	-3.776000	0.00021	TCC	ZAN	-	NULL	ENSG00000146839		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	38	0.00	0	T	NM_003386		100349919	100349919	+1	no_errors	ENST00000546292	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	0.000	C
ZNF705B	100132396	genome.wustl.edu	37	8	7808219	7808219	+	Missense_Mutation	SNP	A	A	T	rs2740676	byFrequency	TCGA-B6-A408-01A-12D-A243-09	TCGA-B6-A408-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	55539a81-a4a3-48d0-86d0-bc3a348762b0	4de56ac4-62c7-4512-8608-7888a58fb4cc	g.chr8:7808219A>T	ENST00000400120.3	+	6	550	c.268A>T	c.(268-270)Ata>Tta	p.I90L	ZNF705B_ENST00000443676.1_Missense_Mutation_p.I90L	NM_001193630.1	NP_001180559.1	P0CI00	Z705B_HUMAN	zinc finger protein 705B	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I90L(4)		kidney(2)|lung(2)	4						AAAACACATGATATCCATGCA	0.328													a|||	611	0.122005	0.3215	0.098	5008	,	,		8921	0.0476		0.0368	False		,,,				2504	0.0337					dbGAP											4	Substitution - Missense(4)	kidney(4)																																								-	-	-	SO:0001583	missense	0				CCDS55194.1	8p23.1	2013-01-08			ENSG00000215356	ENSG00000215356		"""Zinc fingers, C2H2-type"", ""-"""	32284	protein-coding gene	gene with protein product							Standard	NM_001193630		Approved		uc010lro.1	P0CI00	OTTHUMG00000165401	ENST00000400120.3:c.268A>T	8.37:g.7808219A>T	ENSP00000382987:p.Ile90Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K971|A8MY01	Missense_Mutation	SNP	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.I90L	ENST00000400120.3	37	c.268	CCDS55194.1	8	.	.	.	.	.	.	.	.	.	.	A	5.923	0.354401	0.11239	.	.	ENSG00000215356	ENST00000400120;ENST00000443676	T;T	0.10477	2.87;2.87	1.03	-0.278	0.12894	.	.	.	.	.	T	0.04182	0.0116	N	0.12182	0.205	0.80722	P	0.0	P	0.42692	0.787	B	0.38056	0.264	T	0.36016	-0.9765	8	0.13470	T	0.59	.	4.1796	0.10369	0.5061:0.0:0.4939:0.0	.	90	P0CI00	Z705L_HUMAN	L	90	ENSP00000382987:I90L;ENSP00000411618:I90L	ENSP00000382987:I90L	I	+	1	0	ZNF705B	7845629	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.124000	0.15728	-0.074000	0.12820	0.155000	0.16302	ATA	ZNF705B	-	NULL	ENSG00000215356		0.328	ZNF705B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF705B	HGNC	protein_coding	OTTHUMT00000383804.1	82	0.00	0	A	NM_001193630		7808219	7808219	+1	no_errors	ENST00000400120	ensembl	human	known	69_37n	missense	14	17.65	3	SNP	0.000	T
