#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ACTL7B	10880	genome.wustl.edu	37	9	111617580	111617580	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:111617580C>T	ENST00000374667.3	-	1	1659	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	211						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACGTCGCCCTCGGATATGGGC	0.662																																																	0													45.0	38.0	40.0					9																	111617580		2203	4298	6501	SO:0001583	missense	10880			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.631G>A	9.37:g.111617580C>T	ENSP00000363799:p.Glu211Lys		B2R9Q2|Q5JSV1	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E211K	ENST00000374667.3	37	c.631	CCDS6771.1	9	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691089	0.68271	.	.	ENSG00000148156	ENST00000374667	D	0.95035	-3.59	4.63	3.71	0.42584	.	0.185423	0.25866	N	0.027786	D	0.95843	0.8647	M	0.85462	2.755	0.45979	D	0.998798	D	0.59357	0.985	P	0.52309	0.695	D	0.95720	0.8765	10	0.87932	D	0	.	12.2948	0.54840	0.0:0.8277:0.1723:0.0	.	211	Q9Y614	ACL7B_HUMAN	K	211	ENSP00000363799:E211K	ENSP00000363799:E211K	E	-	1	0	ACTL7B	110657401	1.000000	0.71417	0.944000	0.38274	0.970000	0.65996	4.864000	0.62990	1.130000	0.42092	0.655000	0.94253	GAG	ACTL7B	-	pfam_Actin-like,smart_Actin-like		0.662	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7B	HGNC	protein_coding	OTTHUMT00000053571.1	C	NM_006686		111617580	-1	no_errors	ENST00000374667	ensembl	human	known	70_37	missense	SNP	0.998	T
ACVR2A	92	genome.wustl.edu	37	2	148674878	148674878	+	Nonsense_Mutation	SNP	C	C	G	rs192559024		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:148674878C>G	ENST00000241416.7	+	6	1335	c.699C>G	c.(697-699)taC>taG	p.Y233*	ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.Y233*|ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.Y125*	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AAAATGAATACGAAGTCTACA	0.378																																																	0													90.0	77.0	81.0					2																	148674878		2202	4300	6502	SO:0001587	stop_gained	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.699C>G	2.37:g.148674878C>G	ENSP00000241416:p.Tyr233*		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.Y233*	ENST00000241416.7	37	c.699	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.773312	0.98948	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	.	.	.	5.68	3.3	0.37823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9588	0.14056	0.125:0.2087:0.0:0.6663	.	.	.	.	X	233;125;233	.	ENSP00000241416:Y233X	Y	+	3	2	ACVR2A	148391348	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.676000	0.25247	0.450000	0.26774	-0.238000	0.12139	TAC	ACVR2A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.378	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	C	NM_001616		148674878	+1	no_errors	ENST00000241416	ensembl	human	known	70_37	nonsense	SNP	1.000	G
ADAMTS12	81792	genome.wustl.edu	37	5	33576974	33576974	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:33576974G>C	ENST00000504830.1	-	19	3492	c.3157C>G	c.(3157-3159)Cct>Gct	p.P1053A	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P968A|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1053	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGTGGTAGGACTAGGGCTG	0.557										HNSCC(64;0.19)																																							0													126.0	123.0	124.0					5																	33576974		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3157C>G	5.37:g.33576974G>C	ENSP00000422554:p.Pro1053Ala		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1053A	ENST00000504830.1	37	c.3157	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	4.828	0.153906	0.09185	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60548	0.21;0.18	5.08	2.87	0.33458	.	0.724118	0.13961	N	0.350835	T	0.45736	0.1357	L	0.32530	0.975	0.09310	N	1	B;B	0.26147	0.143;0.043	B;B	0.30572	0.117;0.04	T	0.39643	-0.9604	10	0.48119	T	0.1	.	7.4406	0.27181	0.3489:0.0:0.6511:0.0	.	968;1053	P58397-3;P58397	.;ATS12_HUMAN	A	1053;968	ENSP00000422554:P1053A;ENSP00000344847:P968A	ENSP00000344847:P968A	P	-	1	0	ADAMTS12	33612731	0.308000	0.24509	0.020000	0.16555	0.118000	0.20060	0.741000	0.26202	0.478000	0.27488	-0.136000	0.14681	CCT	ADAMTS12	-	NULL		0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	G	NM_030955		33576974	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	0.001	C
ADAMTS20	80070	genome.wustl.edu	37	12	43925948	43925948	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:43925948C>T	ENST00000389420.3	-	3	503	c.504G>A	c.(502-504)atG>atA	p.M168I	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.M168I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	168					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATCTGCCTTCATTATAGGTT	0.353																																																	0													148.0	147.0	147.0					12																	43925948		2202	4300	6502	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.504G>A	12.37:g.43925948C>T	ENSP00000374071:p.Met168Ile		A6NNC9|J3QT00	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,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.M168I	ENST00000389420.3	37	c.504	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	5.812	0.334098	0.11013	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.60548	0.35;0.18	4.84	3.94	0.45596	Peptidase M12B, propeptide (1);	0.248504	0.27134	N	0.020763	T	0.47710	0.1460	L	0.38531	1.155	0.80722	D	1	B	0.14012	0.009	B	0.22152	0.038	T	0.40515	-0.9559	10	0.33940	T	0.23	.	12.9835	0.58577	0.0:0.9177:0.0:0.0823	.	168	P59510	ATS20_HUMAN	I	168	ENSP00000374071:M168I;ENSP00000448341:M168I	ENSP00000374068:M168I	M	-	3	0	ADAMTS20	42212215	1.000000	0.71417	0.382000	0.26119	0.279000	0.26890	2.901000	0.48695	1.341000	0.45600	0.650000	0.86243	ATG	ADAMTS20	-	pfam_Peptidase_M12B_N		0.353	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43925948	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	0.988	T
ADAMTSL1	92949	genome.wustl.edu	37	9	18639370	18639370	+	Silent	SNP	G	G	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:18639370G>T	ENST00000380548.4	+	7	1134	c.795G>T	c.(793-795)ctG>ctT	p.L265L	ADAMTSL1_ENST00000380566.4_Silent_p.L265L|ADAMTSL1_ENST00000327883.7_Silent_p.L265L|ADAMTSL1_ENST00000276935.6_Silent_p.L265L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	265						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAGAGATACTGAGAATGGCTG	0.423																																																	0													65.0	67.0	66.0					9																	18639370		2203	4299	6502	SO:0001819	synonymous_variant	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.795G>T	9.37:g.18639370G>T			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.L265	ENST00000380548.4	37	c.795	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_ADAM_spacer1		0.423	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	G			18639370	+1	no_errors	ENST00000327883	ensembl	human	known	70_37	silent	SNP	1.000	T
AIM1	202	genome.wustl.edu	37	6	106992727	106992727	+	Missense_Mutation	SNP	T	T	C	rs374976583		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr6:106992727T>C	ENST00000369066.3	+	11	4494	c.4007T>C	c.(4006-4008)aTt>aCt	p.I1336T	AIM1_ENST00000535438.1_Missense_Mutation_p.I155T|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGTTCCAGTATTGATGTATTG	0.333																																																	0								T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	122.0	124.0	123.0		4007	5.7	1.0	6		123	0,8600		0,0,4300	no	missense	AIM1	NM_001624.2	89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging	1336/1724	106992727	1,13005	2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4007T>C	6.37:g.106992727T>C	ENSP00000358062:p.Ile1336Thr		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.I1336T	ENST00000369066.3	37	c.4007	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	T	17.00	3.275560	0.59649	2.27E-4	0.0	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.76578	-1.03;-1.03;-1.03	5.72	5.72	0.89469	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.479160	0.25912	N	0.027483	T	0.73830	0.3637	M	0.64170	1.965	0.52501	D	0.999951	P;B	0.42456	0.78;0.382	P;B	0.45232	0.474;0.18	T	0.78971	-0.1993	10	0.72032	D	0.01	.	15.6546	0.77124	0.0:0.0:0.0:1.0	.	155;1336	B4DU04;Q9Y4K1	.;AIM1_HUMAN	T	1336;155;155	ENSP00000358062:I1336T;ENSP00000391419:I155T;ENSP00000439183:I155T	ENSP00000358062:I1336T	I	+	2	0	AIM1	107099420	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.157000	0.58144	2.183000	0.69458	0.459000	0.35465	ATT	AIM1	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin		0.333	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	T			106992727	+1	no_errors	ENST00000369066	ensembl	human	known	70_37	missense	SNP	1.000	C
ALS2CL	259173	genome.wustl.edu	37	3	46713023	46713023	+	Silent	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:46713023G>A	ENST00000318962.4	-	25	2819	c.2736C>T	c.(2734-2736)ccC>ccT	p.P912P	ALS2CL_ENST00000415953.1_Silent_p.P912P|ALS2CL_ENST00000383742.3_Silent_p.P259P	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	912	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTGTGTGGTTGGGGTCCATCA	0.612																																																	0													99.0	88.0	92.0					3																	46713023		2203	4300	6503	SO:0001819	synonymous_variant	259173			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2736C>T	3.37:g.46713023G>A			Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.P912	ENST00000318962.4	37	c.2736	CCDS2743.1	3																																																																																			ALS2CL	-	pfam_VPS9,pfscan_VPS9		0.612	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	G	NM_147129		46713023	-1	no_errors	ENST00000318962	ensembl	human	known	70_37	silent	SNP	0.003	A
AMFR	267	genome.wustl.edu	37	16	56396745	56396745	+	3'UTR	SNP	G	G	A	rs373039697		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:56396745G>A	ENST00000290649.5	-	0	2218					NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase						aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCCATGGAGCGGGCAGAATTG	0.527																																					Pancreas(2;144 323 39528)												0								G		1,1751		0,1,875	28.0	30.0	29.0			-4.3	0.3	16		29	1,3981		0,1,1990	no	utr-3	AMFR	NM_001144.4		0,2,2865	AA,AG,GG		0.0251,0.0571,0.0349			56396745	2,5732	876	1991	2867	SO:0001624	3_prime_UTR_variant	267			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.*76C>T	16.37:g.56396745G>A			P26442|Q8IZ70	RNA	SNP	-	NULL	ENST00000290649.5	37	NULL	CCDS10758.1	16	.	.	.	.	.	.	.	.	.	.	G	2.919	-0.223623	0.06061	5.71E-4	2.51E-4	ENSG00000159461	ENST00000314566	.	.	.	5.49	-4.31	0.03698	.	.	.	.	.	T	0.51126	0.1656	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57911	-0.7729	5	0.87932	D	0	.	1.7798	0.03029	0.2486:0.1879:0.3908:0.1726	.	.	.	.	L	91	.	ENSP00000313137:P91L	P	-	2	0	AMFR	54954246	0.369000	0.25039	0.276000	0.24689	0.002000	0.02628	-0.212000	0.09319	-0.421000	0.07416	-0.136000	0.14681	CCG	AMFR	-	-		0.527	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMFR	HGNC	protein_coding	OTTHUMT00000256978.2	G			56396745	-1	no_errors	ENST00000492830	ensembl	human	known	70_37	rna	SNP	0.827	A
ANKRD12	23253	genome.wustl.edu	37	18	9255252	9255252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr18:9255252G>T	ENST00000262126.4	+	9	2227	c.1987G>T	c.(1987-1989)Gaa>Taa	p.E663*	ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.E640*|ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.E640*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	663						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						gagggaaaaagaaaagcataa	0.299																																																	0													42.0	47.0	45.0					18																	9255252		2192	4281	6473	SO:0001587	stop_gained	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1987G>T	18.37:g.9255252G>T	ENSP00000262126:p.Glu663*		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E663*	ENST00000262126.4	37	c.1987	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	38	6.724038	0.97792	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	.	.	.	5.06	5.06	0.68205	.	0.119181	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.1496	18.7884	0.91964	0.0:0.0:1.0:0.0	.	.	.	.	X	640;663;370	.	ENSP00000262126:E663X	E	+	1	0	ANKRD12	9245252	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.311000	0.96282	2.505000	0.84491	0.460000	0.39030	GAA	ANKRD12	-	NULL		0.299	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255252	+1	no_errors	ENST00000262126	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ANKRD12	23253	genome.wustl.edu	37	18	9255426	9255426	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr18:9255426G>C	ENST00000262126.4	+	9	2401	c.2161G>C	c.(2161-2163)Gaa>Caa	p.E721Q	ANKRD12_ENST00000383440.2_Missense_Mutation_p.E698Q|ANKRD12_ENST00000400020.3_Missense_Mutation_p.E698Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	721						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTTAACATTAGAAAAAAAATC	0.289																																																	0													28.0	30.0	29.0					18																	9255426		2143	4226	6369	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2161G>C	18.37:g.9255426G>C	ENSP00000262126:p.Glu721Gln		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E721Q	ENST00000262126.4	37	c.2161	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253554	0.39797	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158;ENST00000400020	D;D	0.92397	-3.03;-3.03	5.06	5.06	0.68205	.	0.331509	0.30528	N	0.009436	D	0.94640	0.8272	L	0.57536	1.79	0.36889	D	0.889782	D;D;P	0.76494	0.999;0.996;0.935	D;P;P	0.65443	0.935;0.892;0.575	D	0.94400	0.7622	10	0.29301	T	0.29	-14.4551	18.7884	0.91964	0.0:0.0:1.0:0.0	.	348;698;721	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	Q	698;721;428;16	ENSP00000372932:E698Q;ENSP00000262126:E721Q	ENSP00000262126:E721Q	E	+	1	0	ANKRD12	9245426	1.000000	0.71417	0.991000	0.47740	0.664000	0.39144	5.303000	0.65738	2.505000	0.84491	0.460000	0.39030	GAA	ANKRD12	-	NULL		0.289	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9255426	+1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	C
APLNR	187	genome.wustl.edu	37	11	57003624	57003624	+	Silent	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:57003624G>A	ENST00000606794.1	-	1	1051	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	285					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCATGAGGAAGAGGTCAAAGT	0.582																																																	0													106.0	61.0	76.0					11																	57003624		2201	4296	6497	SO:0001819	synonymous_variant	187			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.855C>T	11.37:g.57003624G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt	p.L285	ENST00000606794.1	37	c.855	CCDS7950.1	11																																																																																			APLNR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt		0.582	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	APLNR	HGNC	protein_coding	OTTHUMT00000470575.1	G	NM_005161		57003624	-1	no_errors	ENST00000257254	ensembl	human	known	70_37	silent	SNP	0.997	A
AP5B1	91056	genome.wustl.edu	37	11	65546749	65546749	+	Silent	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:65546749G>C	ENST00000532090.2	-	2	1425	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	405	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGTCATGCAGGAGACTGGGCA	0.642																																																	0													19.0	24.0	22.0					11																	65546749		2081	4203	6284	SO:0001819	synonymous_variant	91056			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1215C>G	11.37:g.65546749G>C			A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	NULL	p.L405	ENST00000532090.2	37	c.1215	CCDS58146.1	11																																																																																			AP5B1	-	NULL		0.642	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	G	NM_138368		65546749	-1	no_errors	ENST00000532090	ensembl	human	novel	70_37	silent	SNP	0.948	C
ARHGAP21	57584	genome.wustl.edu	37	10	24874805	24874805	+	Silent	SNP	G	G	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr10:24874805G>T	ENST00000396432.2	-	26	4899	c.4413C>A	c.(4411-4413)atC>atA	p.I1471I		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1470					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGGCAATGATGATCTTCTGTT	0.393																																																	0													259.0	242.0	248.0					10																	24874805		2203	4300	6503	SO:0001819	synonymous_variant	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4413C>A	10.37:g.24874805G>T			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.I1471	ENST00000396432.2	37	c.4413	CCDS7144.2	10																																																																																			ARHGAP21	-	NULL		0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	G	NM_020824		24874805	-1	no_errors	ENST00000396432	ensembl	human	known	70_37	silent	SNP	0.000	T
ASCC1	51008	genome.wustl.edu	37	10	73921387	73921387	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr10:73921387G>A	ENST00000342444.4	-	7	720	c.619C>T	c.(619-621)Cat>Tat	p.H207Y	ASCC1_ENST00000317168.6_Missense_Mutation_p.H179Y|ASCC1_ENST00000394919.1_Missense_Mutation_p.H179Y|ASCC1_ENST00000317126.4_Missense_Mutation_p.H179Y|ASCC1_ENST00000545550.1_Missense_Mutation_p.H201Y|ASCC1_ENST00000394915.3_Missense_Mutation_p.H207Y	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						ATAGTTAGATGAAGCTTTTTA	0.403																																																	0													148.0	144.0	146.0					10																	73921387		2203	4300	6503	SO:0001583	missense	51008			AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.619C>T	10.37:g.73921387G>A	ENSP00000339404:p.His207Tyr		Q5SW06|Q5SW07|Q96EI8|Q9Y307	Missense_Mutation	SNP	pfam_Kinase-A_anchor_nucl_local_sig,pfam_KH_dom_type_1,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT,pfscan_KH_dom_type_1	p.H207Y	ENST00000342444.4	37	c.619	CCDS55713.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.7|29.7	5.024599|5.024599	0.93518|0.93518	.|.	.|.	ENSG00000138303|ENSG00000138303	ENST00000394919;ENST00000342444;ENST00000317168;ENST00000373101;ENST00000503308;ENST00000317126;ENST00000545550;ENST00000394915;ENST00000530431;ENST00000531048|ENST00000486689	D;D;D;D;D;D;D|.	0.96073|.	-3.9;-3.9;-3.9;-3.9;-3.9;-3.9;-3.09|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Protein kinase A anchor protein, nuclear localisation signal domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85822|0.85822	0.5786|0.5786	M|M	0.91561|0.91561	3.22|3.22	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;0.999|.	D|D	0.88532|0.88532	0.3103|0.3103	10|5	0.87932|.	D|.	0|.	-15.7921|-15.7921	18.3732|18.3732	0.90420|0.90420	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	201;207;94|.	F5H874;Q8N9N2;B3KU20|.	.;ASCC1_HUMAN;.|.	Y|L	179;207;179;179;94;179;201;207;94;113|110	ENSP00000378377:H179Y;ENSP00000339404:H207Y;ENSP00000320810:H179Y;ENSP00000320461:H179Y;ENSP00000442121:H201Y;ENSP00000378373:H207Y;ENSP00000436098:H113Y|.	ENSP00000320461:H179Y|.	H|S	-|-	1|2	0|0	ASCC1|ASCC1	73591393|73591393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	8.333000|8.333000	0.90026|0.90026	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	CAT|TCA	ASCC1	-	pfam_Kinase-A_anchor_nucl_local_sig,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_Euk_LigT		0.403	ASCC1-004	KNOWN	basic|CCDS	protein_coding	ASCC1	HGNC	protein_coding	OTTHUMT00000048573.2	G	NM_015947		73921387	-1	no_errors	ENST00000342444	ensembl	human	known	70_37	missense	SNP	1.000	A
ASMTL	8623	genome.wustl.edu	37	X	1551173	1551173	+	Silent	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chrX:1551173G>A	ENST00000381317.3	-	6	530	c.498C>T	c.(496-498)agC>agT	p.S166S	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Silent_p.S90S|ASMTL_ENST00000381333.4_Silent_p.S150S|ASMTL_ENST00000534940.1_Silent_p.S108S	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	166	MAF-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)	p.S166S(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGGCTCCCCGCTGTGGACGT	0.632													g|||	59	0.0117812	0.0008	0.0173	5008	,	,		13382	0.0		0.0408	False		,,,				2504	0.0051																1	Substitution - coding silent(1)	pancreas(1)						G	,,	22,3860		0,22,1919	103.0	106.0	105.0		324,450,498	-1.3	1.0	X	dbSNP_134	105	309,7933		8,293,3820	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	8,315,5739	AA,AG,GG		3.7491,0.5667,2.7301	,,	108/564,150/606,166/622	1551173	331,11793	1941	4121	6062	SO:0001819	synonymous_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.498C>T	X.37:g.1551173G>A			B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf	p.S166	ENST00000381317.3	37	c.498	CCDS43917.1	X																																																																																			ASMTL	-	pfam_Maf,tigrfam_Maf		0.632	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	G	NM_004192		1551173	-1	no_errors	ENST00000381317	ensembl	human	known	70_37	silent	SNP	0.996	A
ASTN2	23245	genome.wustl.edu	37	9	119249769	119249769	+	Silent	SNP	C	C	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:119249769C>G	ENST00000313400.4	-	20	3466	c.3366G>C	c.(3364-3366)ctG>ctC	p.L1122L	ASTN2_ENST00000288520.5_Silent_p.L223L|ASTN2_ENST00000341734.4_Silent_p.L174L|ASTN2_ENST00000361209.2_Silent_p.L1071L|ASTN2_ENST00000361477.3_Silent_p.L174L|ASTN2_ENST00000373996.3_Silent_p.L1118L			O75129	ASTN2_HUMAN	astrotactin 2	1122	Fibronectin type-III.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGCAAAACTCAGGAATTCTC	0.483																																																	0													53.0	54.0	54.0					9																	119249769		2203	4300	6503	SO:0001819	synonymous_variant	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3366G>C	9.37:g.119249769C>G			A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.L1122	ENST00000313400.4	37	c.3366		9																																																																																			ASTN2	-	superfamily_Fibronectin_type3		0.483	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		C	NM_014010		119249769	-1	no_errors	ENST00000313400	ensembl	human	known	70_37	silent	SNP	1.000	G
ATF4	468	genome.wustl.edu	37	22	39917549	39917549	+	Silent	SNP	C	C	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr22:39917549C>G	ENST00000337304.2	+	1	981	c.99C>G	c.(97-99)ctC>ctG	p.L33L	ATF4_ENST00000396680.1_Silent_p.L33L|ATF4_ENST00000404241.2_Silent_p.L33L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	33					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	GCCTAGGTCTCTTAGATGATT	0.567																																																	0													64.0	63.0	63.0					22																	39917549		2203	4300	6503	SO:0001819	synonymous_variant	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.99C>G	22.37:g.39917549C>G			Q9UH31	Silent	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.L33	ENST00000337304.2	37	c.99	CCDS13996.1	22																																																																																			ATF4	-	NULL		0.567	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	C	NM_001675		39917549	+1	no_errors	ENST00000337304	ensembl	human	known	70_37	silent	SNP	1.000	G
BAGE2	85319	genome.wustl.edu	37	21	11060168	11060168	+	RNA	SNP	G	G	A	rs4095756		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr21:11060168G>A	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACACCTTGGTAGTCTAAAT	0.289																																																	0																																												85319			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11060168G>A			A8K925|Q08ER0	RNA	SNP	-	NULL	ENST00000470054.1	37	NULL		21																																																																																			BAGE2	-	-		0.289	BAGE2-001	KNOWN	basic	processed_transcript	BAGE2	HGNC	pseudogene	OTTHUMT00000157417.3	G	NM_182482		11060168	-1	no_errors	ENST00000474011	ensembl	human	known	70_37	rna	SNP	0.004	A
BAZ2A	11176	genome.wustl.edu	37	12	56996536	56996537	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:56996536_56996537insAT	ENST00000551812.1	-	19	3583_3584	c.3390_3391insAT	c.(3388-3393)tatttgfs	p.L1131fs	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Frame_Shift_Ins_p.L1099fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.L1129fs|BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.L1101fs	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1131					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						ATACCAGCCAAATACGGCAATA	0.485																																																	0																																										SO:0001589	frameshift_variant	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3389_3390dupAT	12.37:g.56996537_56996538dupAT	ENSP00000446880:p.Leu1131fs		B3KN66|O00536|O15030|Q68DI8|Q96H26	Frame_Shift_Ins	INS	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L1130fs	ENST00000551812.1	37	c.3391_3390	CCDS44924.1	12																																																																																			BAZ2A	-	NULL		0.485	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	NM_013449		56996537	-1	no_errors	ENST00000551812	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.999	AT
BIN2	51411	genome.wustl.edu	37	12	51686077	51686077	+	Silent	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:51686077G>A	ENST00000267012.4	-	10	874	c.813C>T	c.(811-813)gtC>gtT	p.V271V	BIN2_ENST00000544402.1_Silent_p.V245V|BIN2_ENST00000604560.1_Silent_p.V244V|BIN2_ENST00000452142.2_Silent_p.V239V	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	271					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GAGGACTGGAGACTGTAGCTG	0.483																																																	0													55.0	58.0	57.0					12																	51686077		2203	4292	6495	SO:0001819	synonymous_variant	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.813C>T	12.37:g.51686077G>A			Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin	p.V271	ENST00000267012.4	37	c.813	CCDS8811.1	12																																																																																			BIN2	-	NULL		0.483	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIN2	HGNC	protein_coding	OTTHUMT00000469800.1	G			51686077	-1	no_errors	ENST00000267012	ensembl	human	known	70_37	silent	SNP	0.001	A
LRRC75A	388341	genome.wustl.edu	37	17	16344739	16344739	+	IGR	SNP	C	C	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:16344739C>G	ENST00000409083.3	-	0	2656				C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						AGTTTGGATTCTGAAAACTAA	0.423																																																	0																																										SO:0001628	intergenic_variant	125144																															17.37:g.16344739C>G				RNA	SNP	-	NULL	ENST00000409083.3	37	NULL	CCDS11178.2	17																																																																																			C17orf76-AS1	-	-		0.423	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	C17orf76-AS1	HGNC	protein_coding	OTTHUMT00000130461.2	C			16344739	+1	no_errors	ENST00000460249	ensembl	human	known	70_37	rna	SNP	0.000	G
CCDC152	100129792	genome.wustl.edu	37	5	42796957	42796957	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:42796957G>C	ENST00000361970.5	+	7	544	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	CCDC152_ENST00000388827.4_Missense_Mutation_p.E97Q	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152	153										endometrium(1)	1						AAAGCACAAAGAACTAATAGA	0.229																																																	0													63.0	51.0	54.0					5																	42796957		692	1588	2280	SO:0001583	missense	100129792				CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.457G>C	5.37:g.42796957G>C	ENSP00000354888:p.Glu153Gln		B3KXI4|B4E0P7|Q5BLP6	Missense_Mutation	SNP	NULL	p.E153Q	ENST00000361970.5	37	c.457	CCDS47203.1	5	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106481	0.37145	.	.	ENSG00000198865	ENST00000361970;ENST00000388827	T;T	0.46063	0.88;0.91	5.41	5.41	0.78517	.	0.189641	0.45606	D	0.000348	T	0.42131	0.1189	M	0.61703	1.905	0.36576	D	0.873288	B;B	0.30937	0.188;0.301	B;B	0.31547	0.132;0.132	T	0.50617	-0.8807	10	0.40728	T	0.16	4.0853	13.5758	0.61873	0.0:0.1557:0.8443:0.0	.	97;153	B4E0P7;Q4G0S7	.;CC152_HUMAN	Q	153;97	ENSP00000354888:E153Q;ENSP00000373479:E97Q	ENSP00000354888:E153Q	E	+	1	0	CCDC152	42832714	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.254000	0.32897	2.525000	0.85131	0.655000	0.94253	GAA	CCDC152	-	NULL		0.229	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC152	HGNC	protein_coding	OTTHUMT00000367497.1	G	XM_001717416		42796957	+1	no_errors	ENST00000361970	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC176	80127	genome.wustl.edu	37	14	74516643	74516643	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr14:74516643G>A	ENST00000394009.3	+	8	1154	c.1031G>A	c.(1030-1032)cGt>cAt	p.R344H	CCDC176_ENST00000553773.1_Missense_Mutation_p.R69H|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	344					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											GAAATGAATCGTGTGAAGAAG	0.433																																																	0													120.0	110.0	113.0					14																	74516643		2203	4300	6503	SO:0001583	missense	80127			BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.1031G>A	14.37:g.74516643G>A	ENSP00000377577:p.Arg344His		Q0P604|Q9H5P8	Missense_Mutation	SNP	NULL	p.R344H	ENST00000394009.3	37	c.1031	CCDS32119.2	14	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215343	0.39102	.	.	ENSG00000119636	ENST00000394009;ENST00000553773	T;T	0.48836	2.07;0.8	5.66	4.77	0.60923	.	0.430844	0.26944	N	0.021701	T	0.44767	0.1309	L	0.55213	1.73	0.41997	D	0.990874	B	0.30211	0.273	B	0.26094	0.066	T	0.46569	-0.9182	10	0.62326	D	0.03	-7.9522	14.8795	0.70522	0.0691:0.0:0.9309:0.0	.	344	Q8ND07	CN045_HUMAN	H	344;69	ENSP00000377577:R344H;ENSP00000451097:R69H	ENSP00000377577:R344H	R	+	2	0	C14orf45	73586396	0.974000	0.33945	0.678000	0.29963	0.655000	0.38815	4.842000	0.62831	1.414000	0.47017	-0.272000	0.10252	CGT	CCDC176	-	NULL		0.433	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC176	HGNC	protein_coding	OTTHUMT00000327863.1	G	NM_025057		74516643	+1	no_errors	ENST00000394009	ensembl	human	known	70_37	missense	SNP	0.934	A
CLEC4F	165530	genome.wustl.edu	37	2	71043160	71043160	+	Silent	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:71043160G>A	ENST00000272367.2	-	4	1429	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	CLEC4F_ENST00000426626.1_Silent_p.V451V	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	451					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTGAAGTAATGACCACATGGA	0.522																																					Colon(107;10 2157 6841 26035)												0													138.0	129.0	132.0					2																	71043160		2203	4300	6503	SO:0001819	synonymous_variant	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1353C>T	2.37:g.71043160G>A			A4QPA5	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.V451	ENST00000272367.2	37	c.1353	CCDS1910.1	2																																																																																			CLEC4F	-	NULL		0.522	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1	G	NM_173535		71043160	-1	no_errors	ENST00000272367	ensembl	human	known	70_37	silent	SNP	0.000	A
CMYA5	202333	genome.wustl.edu	37	5	79032785	79032785	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:79032785G>A	ENST00000446378.2	+	2	8228	c.8197G>A	c.(8197-8199)Gaa>Aaa	p.E2733K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2733					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTGTCATGATGAAATAGAGAA	0.393																																																	0													50.0	49.0	49.0					5																	79032785		1834	4074	5908	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8197G>A	5.37:g.79032785G>A	ENSP00000394770:p.Glu2733Lys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E2733K	ENST00000446378.2	37	c.8197	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444841	0.43429	.	.	ENSG00000164309	ENST00000446378	T	0.17691	2.26	4.09	3.2	0.36748	.	0.112589	0.40144	N	0.001170	T	0.17323	0.0416	L	0.46157	1.445	0.09310	N	1	P	0.37015	0.578	B	0.40199	0.322	T	0.08973	-1.0696	10	0.62326	D	0.03	.	9.1679	0.37063	0.1074:0.0:0.8926:0.0	.	2733	Q8N3K9	CMYA5_HUMAN	K	2733	ENSP00000394770:E2733K	ENSP00000394770:E2733K	E	+	1	0	CMYA5	79068541	0.017000	0.18338	0.019000	0.16419	0.199000	0.23934	0.938000	0.28965	0.861000	0.35504	0.478000	0.44815	GAA	CMYA5	-	NULL		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	G	NM_153610		79032785	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.150	A
CNTRL	11064	genome.wustl.edu	37	9	123858773	123858773	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:123858773C>T	ENST00000373855.1	+	6	813	c.553C>T	c.(553-555)Cca>Tca	p.P185S	CNTRL_ENST00000238341.5_Missense_Mutation_p.P185S|CNTRL_ENST00000373865.2_Missense_Mutation_p.P185S			Q7Z7A1	CNTRL_HUMAN	centriolin	185					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGAGCATATTCCAGTATGGTT	0.323																																																	0													98.0	104.0	102.0					9																	123858773		2203	4299	6502	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.553C>T	9.37:g.123858773C>T	ENSP00000362962:p.Pro185Ser		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.P185S	ENST00000373855.1	37	c.553	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777667	0.90195	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.52983	0.64;0.64	5.87	5.87	0.94306	.	.	.	.	.	T	0.72510	0.3469	M	0.80183	2.485	0.51233	D	0.999911	D	0.89917	1.0	D	0.91635	0.999	T	0.74813	-0.3537	9	0.87932	D	0	.	19.2028	0.93717	0.0:1.0:0.0:0.0	.	185	Q7Z7A1	CNTRL_HUMAN	S	185	ENSP00000362962:P185S;ENSP00000238341:P185S	ENSP00000238341:P185S	P	+	1	0	CNTRL	122898594	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	6.198000	0.72106	2.785000	0.95823	0.591000	0.81541	CCA	CNTRL	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.323	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	C	NM_007018		123858773	+1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	T
COL4A2	1284	genome.wustl.edu	37	13	110960452	110960452	+	Silent	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr13:110960452C>T	ENST00000360467.5	+	3	387	c.81C>T	c.(79-81)ctC>ctT	p.L27L	COL4A1_ENST00000543140.1_5'Flank|COL4A1_ENST00000375820.4_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	27					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGGTTCCTCGCCCAGAGCG	0.647																																																	0													68.0	77.0	74.0					13																	110960452		2058	4183	6241	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.81C>T	13.37:g.110960452C>T			Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L27	ENST00000360467.5	37	c.81	CCDS41907.1	13																																																																																			COL4A2	-	NULL		0.647	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	C	NM_001846		110960452	+1	no_errors	ENST00000360467	ensembl	human	known	70_37	silent	SNP	0.152	T
COL4A3BP	10087	genome.wustl.edu	37	5	74696108	74696108	+	Silent	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:74696108C>T	ENST00000405807.4	-	10	1453	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K	COL4A3BP_ENST00000261415.7_Silent_p.K344K|COL4A3BP_ENST00000380494.5_Silent_p.K472K	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	344					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GTAATCTCACCTTTTCACTCT	0.363																																																	0													91.0	85.0	87.0					5																	74696108		2203	4300	6503	SO:0001819	synonymous_variant	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1032G>A	5.37:g.74696108C>T			A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Silent	SNP	pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd	p.K472	ENST00000405807.4	37	c.1416	CCDS4028.1	5																																																																																			COL4A3BP	-	NULL		0.363	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2	C	NM_005713		74696108	-1	no_errors	ENST00000380494	ensembl	human	known	70_37	silent	SNP	1.000	T
COMMD6	170622	genome.wustl.edu	37	13	76100690	76100690	+	3'UTR	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr13:76100690G>C	ENST00000377615.3	-	0	457				COMMD6_ENST00000377619.5_3'UTR|COMMD6_ENST00000406936.3_3'UTR|COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000355801.4_3'UTR			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6						negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		CATGACTTTAGAATGATAGCA	0.328																																																	0													93.0	98.0	96.0					13																	76100690		2203	4300	6503	SO:0001624	3_prime_UTR_variant	170622			AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.*35C>G	13.37:g.76100690G>C			A6NF28|B7ZLN0|Q5TBK4	RNA	SNP	-	NULL	ENST00000377615.3	37	NULL	CCDS9451.1	13																																																																																			COMMD6	-	-		0.328	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD6	HGNC	protein_coding	OTTHUMT00000045288.4	G	XM_085023		76100690	-1	no_errors	ENST00000460675	ensembl	human	known	70_37	rna	SNP	0.019	C
CHDC2	286464	genome.wustl.edu	37	X	36091445	36091445	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chrX:36091445G>A	ENST00000313548.4	+	4	566	c.380G>A	c.(379-381)gGa>gAa	p.G127E		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	127						integral component of membrane (GO:0016021)		p.G127>?(1)									TGGCCTGAAGGACCCCATTCT	0.388																																																	1	Complex(1)	skin(1)											97.0	88.0	91.0					X																	36091445		2202	4300	6502	SO:0001583	missense	286464			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.380G>A	X.37:g.36091445G>A	ENSP00000324767:p.Gly127Glu			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.G127E	ENST00000313548.4	37	c.380	CCDS14238.1	X	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350034	0.41599	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.09	4.23	0.50019	.	0.105237	0.33364	N	0.004997	T	0.49677	0.1571	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.35919	-0.9769	9	0.87932	D	0	-9.7758	8.3893	0.32518	0.1111:0.0:0.8889:0.0	.	127	Q8N9S7	CX059_HUMAN	E	127	.	ENSP00000324767:G127E	G	+	2	0	CXorf59	36001366	1.000000	0.71417	0.107000	0.21349	0.520000	0.34377	4.987000	0.63857	0.929000	0.37192	0.529000	0.55759	GGA	CXorf59	-	NULL		0.388	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf59	HGNC	protein_coding		G	NM_173695		36091445	+1	no_errors	ENST00000313548	ensembl	human	known	70_37	missense	SNP	0.389	A
DCHS1	8642	genome.wustl.edu	37	11	6662559	6662559	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:6662559C>T	ENST00000299441.3	-	2	697	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACTGTGTTCGTCAATGGCC	0.627																																																	0													57.0	52.0	54.0					11																	6662559		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.286G>A	11.37:g.6662559C>T	ENSP00000299441:p.Glu96Lys		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E96K	ENST00000299441.3	37	c.286	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893789	0.72639	.	.	ENSG00000166341	ENST00000299441	T	0.38240	1.15	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.000000	0.47093	D	0.000247	T	0.56441	0.1985	M	0.67625	2.065	0.58432	D	0.999997	D	0.71674	0.998	D	0.72982	0.979	T	0.49184	-0.8966	10	0.12766	T	0.61	.	18.1884	0.89799	0.0:1.0:0.0:0.0	.	96	Q96JQ0	PCD16_HUMAN	K	96	ENSP00000299441:E96K	ENSP00000299441:E96K	E	-	1	0	DCHS1	6619135	1.000000	0.71417	0.895000	0.35142	0.947000	0.59692	5.919000	0.70005	2.536000	0.85505	0.643000	0.83706	GAA	DCHS1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.627	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	C	NM_003737		6662559	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	1.000	T
DENND5B	160518	genome.wustl.edu	37	12	31566465	31566465	+	Silent	SNP	A	A	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:31566465A>G	ENST00000389082.5	-	13	2850	c.2586T>C	c.(2584-2586)gaT>gaC	p.D862D	DENND5B_ENST00000306833.6_Silent_p.D897D|DENND5B_ENST00000536562.1_Silent_p.D897D	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	862	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTCGTCCAACATCAGTCTTGA	0.413																																																	0													109.0	100.0	103.0					12																	31566465		1894	4122	6016	SO:0001819	synonymous_variant	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2586T>C	12.37:g.31566465A>G			B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.D897	ENST00000389082.5	37	c.2691	CCDS44857.1	12																																																																																			DENND5B	-	pfam_Run,pfscan_Run		0.413	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	A	NM_144973		31566465	-1	no_errors	ENST00000306833	ensembl	human	known	70_37	silent	SNP	0.694	G
DLGAP5	9787	genome.wustl.edu	37	14	55650384	55650384	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr14:55650384T>C	ENST00000247191.2	-	3	542	c.326A>G	c.(325-327)cAg>cGg	p.Q109R	DLGAP5_ENST00000395425.2_Missense_Mutation_p.Q109R	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	109					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTCTCTCTCTGCTCTTTCAA	0.368																																																	0													87.0	75.0	79.0					14																	55650384		2203	4299	6502	SO:0001583	missense	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.326A>G	14.37:g.55650384T>C	ENSP00000247191:p.Gln109Arg		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	pfam_GKAP	p.Q109R	ENST00000247191.2	37	c.326	CCDS9723.1	14	.	.	.	.	.	.	.	.	.	.	T	23.6	4.433730	0.83776	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645;ENST00000554067	T;T;T;T	0.46063	2.35;2.35;2.35;0.88	5.55	5.55	0.83447	.	0.139018	0.50627	D	0.000104	T	0.62901	0.2466	M	0.76002	2.32	0.40126	D	0.976669	D;D	0.71674	0.998;0.997	D;D	0.65323	0.934;0.909	T	0.65742	-0.6094	10	0.46703	T	0.11	.	15.6662	0.77230	0.0:0.0:0.0:1.0	.	109;109	A8MTM6;Q15398	.;DLGP5_HUMAN	R	109	ENSP00000378815:Q109R;ENSP00000247191:Q109R;ENSP00000451747:Q109R;ENSP00000452168:Q109R	ENSP00000247191:Q109R	Q	-	2	0	DLGAP5	54720137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.830000	0.62745	2.243000	0.73865	0.533000	0.62120	CAG	DLGAP5	-	NULL		0.368	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	T	NM_014750		55650384	-1	no_errors	ENST00000247191	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAH14	127602	genome.wustl.edu	37	1	225231637	225231637	+	Intron	DEL	T	T	-	rs569001107	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:225231637delT	ENST00000445597.2	+	11	1825				DNAH14_ENST00000439375.2_Frame_Shift_Del_p.F622fs|DNAH14_ENST00000430092.1_Frame_Shift_Del_p.F622fs			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						CAGATTGGAGTTTTCAGTAAA	0.274													TTTT|TTTT|TTT|deletion	12	0.00239617	0.0	0.0058	5008	,	,		16878	0.0		0.008	False		,,,				2504	0.0																0										3,1747		0,3,872	28.0	24.0	25.0			-9.6	0.1	1		26	21,3687		0,21,1833	no	frameshift	DNAH14	NM_001373.1		0,24,2705	A1A1,A1R,RR		0.5663,0.1714,0.4397			225231637	24,5434	692	1557	2249	SO:0001627	intron_variant	127602			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.1825+821T>-	1.37:g.225231637delT			A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.S623fs	ENST00000445597.2	37	c.1864		1																																																																																			DNAH14	-	NULL		0.274	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	T	XM_059166		225231637	+1	no_errors	ENST00000430092	ensembl	human	known	70_37	frame_shift_del	DEL	0.637	-
DYNC2H1	79659	genome.wustl.edu	37	11	103026151	103026151	+	Missense_Mutation	SNP	G	G	A	rs201194631		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:103026151G>A	ENST00000375735.2	+	25	3809	c.3665G>A	c.(3664-3666)gGg>gAg	p.G1222E	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G1222E	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1222	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTTCCTAGGGGGACTAGTCTA	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		13122	0.0		0.001	False		,,,				2504	0.0																0								G	GLU/GLY,GLU/GLY	0,3674		0,0,1837	85.0	85.0	85.0		3665,3665	5.5	1.0	11		85	6,8158		0,6,4076	no	missense,missense	DYNC2H1	NM_001080463.1,NM_001377.2	98,98	0,6,5913	AA,AG,GG		0.0735,0.0,0.0507	benign,benign	1222/4315,1222/4308	103026151	6,11832	1837	4082	5919	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3665G>A	11.37:g.103026151G>A	ENSP00000364887:p.Gly1222Glu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G1222E	ENST00000375735.2	37	c.3665	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690425	0.88735	0.0	7.35E-4	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.60299	0.2;0.2	5.48	5.48	0.80851	Dynein heavy chain, domain-2 (1);	0.204695	0.30565	U	0.009349	T	0.50257	0.1605	L	0.42632	1.34	0.80722	D	1	P;P	0.41131	0.624;0.739	B;B	0.40901	0.3;0.343	T	0.50127	-0.8864	10	0.02654	T	1	.	19.3575	0.94421	0.0:0.0:1.0:0.0	.	1222;1222	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	E	1222	ENSP00000364887:G1222E;ENSP00000381167:G1222E	ENSP00000364887:G1222E	G	+	2	0	DYNC2H1	102531361	1.000000	0.71417	0.992000	0.48379	0.849000	0.48306	9.388000	0.97237	2.577000	0.86979	0.650000	0.86243	GGG	DYNC2H1	-	pfam_Dynein_heavy_dom-2		0.408	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	G	XM_370652		103026151	+1	no_errors	ENST00000398093	ensembl	human	known	70_37	missense	SNP	1.000	A
DSCAML1	57453	genome.wustl.edu	37	11	117310107	117310107	+	Missense_Mutation	SNP	C	C	T	rs61730454	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:117310107C>T	ENST00000321322.6	-	23	4200	c.4199G>A	c.(4198-4200)cGg>cAg	p.R1400Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1130Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1340	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R1400L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGATGAGCCGGTGCCCATC	0.622													C|||	5	0.000998403	0.0008	0.0029	5008	,	,		18051	0.0		0.002	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)						C	GLN/ARG	3,4399	6.2+/-15.9	0,3,2198	92.0	79.0	83.0		4199	4.9	1.0	11	dbSNP_129	83	45,8547	30.1+/-81.4	0,45,4251	yes	missense	DSCAML1	NM_020693.2	43	0,48,6449	TT,TC,CC		0.5237,0.0682,0.3694	probably-damaging	1400/2114	117310107	48,12946	2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4199G>A	11.37:g.117310107C>T	ENSP00000315465:p.Arg1400Gln		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1400Q	ENST00000321322.6	37	c.4199	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675090	0.88445	6.82E-4	0.005237	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66995	-0.24;-0.24	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72700	0.3493	L	0.56340	1.77	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.74372	-0.3687	9	0.36615	T	0.2	.	18.2491	0.89997	0.0:1.0:0.0:0.0	.	1340	Q8TD84	DSCL1_HUMAN	Q	1130;1400;1107	ENSP00000434335:R1130Q;ENSP00000315465:R1400Q	ENSP00000315465:R1400Q	R	-	2	0	DSCAML1	116815317	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	5.917000	0.69989	2.549000	0.85964	0.561000	0.74099	CGG	DSCAML1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.622	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	C	NM_020693		117310107	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	1.000	T
EEA1	8411	genome.wustl.edu	37	12	93285460	93285460	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:93285460T>A	ENST00000322349.8	-	2	326	c.62A>T	c.(61-63)gAt>gTt	p.D21V	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	21					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGCTGATGAATCTAAATCAGA	0.363																																																	0													111.0	121.0	118.0					12																	93285460		2203	4300	6503	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.62A>T	12.37:g.93285460T>A	ENSP00000317955:p.Asp21Val		Q14221	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.D21V	ENST00000322349.8	37	c.62	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820619	0.50633	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.71341	-0.56	5.65	5.65	0.86999	.	0.000000	0.48286	D	0.000193	T	0.79034	0.4378	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.80852	-0.1197	10	0.87932	D	0	.	12.2513	0.54599	0.0:0.0:0.0:1.0	.	21	Q15075	EEA1_HUMAN	V	21;20	ENSP00000317955:D21V	ENSP00000317955:D21V	D	-	2	0	EEA1	91809591	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.301000	0.59086	2.140000	0.66376	0.533000	0.62120	GAT	EEA1	-	NULL		0.363	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	T	NM_003566		93285460	-1	no_errors	ENST00000322349	ensembl	human	known	70_37	missense	SNP	1.000	A
AGO4	192670	genome.wustl.edu	37	1	36320284	36320284	+	3'UTR	SNP	T	T	G	rs546498377		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:36320284T>G	ENST00000373210.3	+	0	3909					NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										ACAGTTGGTGTCCTGTCACTT	0.348													T|||	1	0.000199681	0.0	0.0	5008	,	,		18486	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001624	3_prime_UTR_variant	192670			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.*1078T>G	1.37:g.36320284T>G			A7MD27	RNA	SNP	-	NULL	ENST00000373210.3	37	NULL	CCDS397.1	1																																																																																			EIF2C4	-	-		0.348	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C4	HGNC	protein_coding	OTTHUMT00000012213.3	T	NM_017629		36320284	+1	no_errors	ENST00000496257	ensembl	human	known	70_37	rna	SNP	1.000	G
MT-CO1	4512	genome.wustl.edu	37	M	4295	4295	+	5'Flank	SNP	A	A	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chrM:4295A>G	ENST00000361624.2	+	0	0				MT-ND2_ENST00000361453.3_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GTTACTTTGATAGAGTAAATA	0.403																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.4295A>G	Exception_encountered		Q34770	RNA	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			J01415.4	-	-		0.403	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000210100	Clone_based_ensembl_gene	protein_coding		A	YP_003024028		4295	+1	no_errors	ENST00000387365	ensembl	human	novel	70_37	rna	SNP	NULL	G
YEATS2	55689	genome.wustl.edu	37	3	183520323	183520324	+	Intron	INS	-	-	TA	rs11276625|rs74710373	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:183520323_183520324insTA	ENST00000305135.5	+	26	3697				AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			atatacacgtgtatatacacac	0.332														2148	0.428914	0.2602	0.4568	5008	,	,		21295	0.5228		0.4642	False		,,,				2504	0.5041																0																																										SO:0001627	intron_variant	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3503-720->TA	3.37:g.183520328_183520329dupTA			A7E2B9|D3DNS9|Q641P6|Q9NW96	RNA	INS	-	NULL	ENST00000305135.5	37	NULL	CCDS43175.1	3																																																																																			AC131160.1	-	-		0.332	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216166	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000346507.2	-	NM_018023		183520324	-1	no_errors	ENST00000401347	ensembl	human	novel	70_37	rna	INS	0.000:0.000	TA
AC112721.1	0	genome.wustl.edu	37	2	238330215	238330215	+	Missense_Mutation	SNP	T	T	C	rs199989848	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:238330215T>C	ENST00000409162.1	-	3	435	c.289A>G	c.(289-291)Aca>Gca	p.T97A																								ggggctattgtgtggggaagc	0.507											OREG0015325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	12	0.00239617	0.0008	0.0	5008	,	,		18314	0.0		0.0	False		,,,				2504	0.0112																0																																										SO:0001583	missense	0																														ENST00000409162.1:c.289A>G	2.37:g.238330215T>C	ENSP00000387024:p.Thr97Ala	2403		Missense_Mutation	SNP	NULL	p.T97A	ENST00000409162.1	37	c.289		2	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881608	0.33255	.	.	ENSG00000222022	ENST00000409162	.	.	.	4.24	-0.765	0.11023	.	.	.	.	.	T	0.37348	0.1000	.	.	.	.	.	.	.	.	.	.	.	.	T	0.47686	-0.9098	4	0.87932	D	0	.	4.0041	0.09593	0.0:0.2677:0.1804:0.5519	.	.	.	.	A	97	.	ENSP00000387024:T97A	T	-	1	0	AC112721.1	237994954	0.123000	0.22298	0.000000	0.03702	0.267000	0.26476	0.275000	0.18698	-0.123000	0.11745	0.533000	0.62120	ACA	AC112721.1	-	NULL		0.507	AC112721.1-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000222022	Clone_based_vega_gene	protein_coding	OTTHUMT00000328877.1	T			238330215	-1	no_errors	ENST00000409162	ensembl	human	putative	70_37	missense	SNP	0.001	C
RP11-764K9.1	0	genome.wustl.edu	37	9	68401327	68401327	+	lincRNA	SNP	T	T	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:68401327T>A	ENST00000417843.2	-	0	492																											CCTTGGAGTGTCAGATAGTTT	0.378																																																	0																																												0																															9.37:g.68401327T>A				RNA	SNP	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			RP11-764K9.1	-	-		0.378	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	Clone_based_vega_gene	lincRNA	OTTHUMT00000129817.2	T			68401327	-1	no_errors	ENST00000417843	ensembl	human	known	70_37	rna	SNP	0.148	A
MUC3A	4584	genome.wustl.edu	37	7	100608197	100608198	+	Intron	INS	-	-	GGG	rs373235112		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr7:100608197_100608198insGGG	ENST00000319509.7	+	6	2041				RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCCCCTCCACACTCCCCCAGAC	0.609																																																	0																																										SO:0001627	intron_variant	0			AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2042-109->GGG	7.37:g.100608197_100608198insGGG			O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	INS	-	NULL	ENST00000319509.7	37	NULL		7																																																																																			RP11-395B7.2	-	-		0.609	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	ENSG00000225946	Clone_based_vega_gene	protein_coding	OTTHUMT00000347215.1	-	XM_001725354		100608198	-1	no_errors	ENST00000420080	ensembl	human	known	70_37	rna	INS	0.000:0.000	GGG
RP11-232D9.3	0	genome.wustl.edu	37	X	115827973	115827973	+	lincRNA	SNP	A	A	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chrX:115827973A>G	ENST00000446495.1	-	0	183																											CGTTACCTGAAAGCGATATTT	0.403																																																	0																																												0																															X.37:g.115827973A>G				RNA	SNP	-	NULL	ENST00000446495.1	37	NULL		X																																																																																			RP11-232D9.3	-	-		0.403	RP11-232D9.3-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000230159	Clone_based_vega_gene	lincRNA	OTTHUMT00000057990.1	A			115827973	-1	no_errors	ENST00000446495	ensembl	human	known	70_37	rna	SNP	0.032	G
UPK3B	80761	genome.wustl.edu	37	7	76532191	76532191	+	Intron	SNP	T	T	G	rs112199928	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr7:76532191T>G	ENST00000419923.2	+	6	1408				AC007003.1_ENST00000472463.1_RNA|UPK3B_ENST00000443097.2_Intron			Q9BT76	UPK3B_HUMAN	uroplakin 3B						negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				CTTCTTAGAGTTCCCCTAAGG	0.383													T|||	807	0.161142	0.2141	0.134	5008	,	,		16091	0.0952		0.2097	False		,,,				2504	0.1268																0																																										SO:0001627	intron_variant	0			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000419923.2:c.961-115950T>G	7.37:g.76532191T>G			A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	RNA	SNP	-	NULL	ENST00000419923.2	37	NULL	CCDS5588.1	7																																																																																			AC007003.1	-	-		0.383	UPK3B-201	KNOWN	basic|CCDS	protein_coding	ENSG00000231183	Clone_based_vega_gene	protein_coding		T	NM_030570		76532191	+1	no_errors	ENST00000472463	ensembl	human	known	70_37	rna	SNP	0.017	G
RP3-462D8.2	0	genome.wustl.edu	37	22	25678975	25678975	+	lincRNA	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr22:25678975G>C	ENST00000411511.1	-	0	0																											AGAGCAAGGCGACTCCGGCCG	0.716																																																	0																																												0																															22.37:g.25678975G>C				RNA	SNP	-	NULL	ENST00000411511.1	37	NULL		22																																																																																			RP3-462D8.2	-	-		0.716	RP3-462D8.2-002	KNOWN	basic|exp_conf	lincRNA	ENSG00000233577	Clone_based_vega_gene	lincRNA	OTTHUMT00000320493.2	G			25678975	-1	no_errors	ENST00000444383	ensembl	human	putative	70_37	rna	SNP	0.983	C
BHMG1	388553	genome.wustl.edu	37	19	46238634	46238634	+	Splice_Site	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:46238634G>A	ENST00000457052.2	+	2	416		c.e2-1																									CCTCTTTGCAGATGTTTGGTT	0.507																																																	0																																										SO:0001630	splice_region_variant	0																														ENST00000457052.2:c.0-1G>A	19.37:g.46238634G>A				Splice_Site	SNP	-	e1-1	ENST00000457052.2	37	c.1-1		19																																																																																			AC074212.3	-	-		0.507	AC074212.3-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000237452	Clone_based_vega_gene	protein_coding	OTTHUMT00000343318.3	G		Intron	46238634	+1	no_errors	ENST00000457052	ensembl	human	putative	70_37	splice_site	SNP	1.000	A
RP11-320N7.1	0	genome.wustl.edu	37	12	4219339	4219339	+	RNA	SNP	G	G	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:4219339G>T	ENST00000393388.3	-	0	352																											TTGGGCTCCTGATGCCGAACC	0.527																																																	0																																												0																															12.37:g.4219339G>T				RNA	SNP	-	NULL	ENST00000393388.3	37	NULL		12																																																																																			RP11-320N7.1	-	-		0.527	RP11-320N7.1-002	PUTATIVE	basic	processed_transcript	ENSG00000242444	Clone_based_vega_gene	pseudogene	OTTHUMT00000398506.1	G			4219339	-1	no_errors	ENST00000393388	ensembl	human	putative	70_37	rna	SNP	0.475	T
RP5-902P8.12	0	genome.wustl.edu	37	1	1185370	1185371	+	lincRNA	INS	-	-	GA	rs199675353	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:1185370_1185371insGA	ENST00000565563.1	-	0	1343_1344																											caggggccagggagagagagag	0.5														28	0.00559105	0.003	0.0058	5008	,	,		21039	0.002		0.0119	False		,,,				2504	0.0061																0																																												0																															1.37:g.1185379_1185380dupGA				RNA	INS	-	NULL	ENST00000565563.1	37	NULL		1																																																																																			RP5-902P8.12	-	-		0.500	RP5-902P8.12-001	KNOWN	basic	lincRNA	ENSG00000260179	Clone_based_vega_gene	lincRNA	OTTHUMT00000430911.1	-			1185371	-1	no_errors	ENST00000565563	ensembl	human	known	70_37	rna	INS	0.674:0.752	GA
BMS1P8	653557	genome.wustl.edu	37	16	33497306	33497306	+	RNA	SNP	T	T	C	rs62029822	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:33497306T>C	ENST00000565156.1	-	0	528									BMS1 pseudogene 8																		ACTTTATACTTGAATATTCAA	0.353																																																	0																																												0					16p11.2	2013-09-20			ENSG00000260518	ENSG00000260518			49152	pseudogene	pseudogene							Standard	NG_011420		Approved				OTTHUMG00000176352		16.37:g.33497306T>C				RNA	SNP	-	NULL	ENST00000565156.1	37	NULL		16																																																																																			RP11-293B20.1	-	-		0.353	BMS1P8-003	KNOWN	basic	processed_transcript	ENSG00000260518	Clone_based_vega_gene	pseudogene	OTTHUMT00000431810.1	T			33497306	-1	no_errors	ENST00000565156	ensembl	human	known	70_37	rna	SNP	0.912	C
BMS1P8	653557	genome.wustl.edu	37	16	33497322	33497322	+	RNA	SNP	G	G	A	rs62029823	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:33497322G>A	ENST00000565156.1	-	0	512									BMS1 pseudogene 8																		TTCAAAGTACGTAAGAAATTA	0.358																																																	0																																												0					16p11.2	2013-09-20			ENSG00000260518	ENSG00000260518			49152	pseudogene	pseudogene							Standard	NG_011420		Approved				OTTHUMG00000176352		16.37:g.33497322G>A				RNA	SNP	-	NULL	ENST00000565156.1	37	NULL		16																																																																																			RP11-293B20.1	-	-		0.358	BMS1P8-003	KNOWN	basic	processed_transcript	ENSG00000260518	Clone_based_vega_gene	pseudogene	OTTHUMT00000431810.1	G			33497322	-1	no_errors	ENST00000565156	ensembl	human	known	70_37	rna	SNP	0.000	A
KCNJ14	3770	genome.wustl.edu	37	19	48968981	48968981	+	3'UTR	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:48968981G>C	ENST00000391884.1	+	0	2734				CTC-273B12.7_ENST00000595676.1_5'Flank|KCNJ14_ENST00000342291.2_3'UTR|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.5_ENST00000593476.1_RNA|CTC-273B12.5_ENST00000600650.1_RNA			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14						potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CTAGATATCTGAGATTTTGCT	0.413																																					NSCLC(148;170 3504 35216)												0																																										SO:0001624	3_prime_UTR_variant	0			BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.*947G>C	19.37:g.48968981G>C				RNA	SNP	-	NULL	ENST00000391884.1	37	NULL	CCDS12721.1	19																																																																																			CTC-273B12.5	-	-		0.413	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000268530	Clone_based_vega_gene	protein_coding	OTTHUMT00000466127.1	G	NM_013348		48968981	-1	no_errors	ENST00000593476	ensembl	human	known	70_37	rna	SNP	0.000	C
EP400	57634	genome.wustl.edu	37	12	132445333	132445333	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:132445333C>T	ENST00000333577.4	+	2	278	c.169C>T	c.(169-171)Caa>Taa	p.Q57*	EP400_ENST00000332482.4_Nonsense_Mutation_p.Q57*|EP400_ENST00000389562.2_Nonsense_Mutation_p.Q57*|EP400_ENST00000389561.2_Nonsense_Mutation_p.Q57*|EP400_ENST00000330386.6_Nonsense_Mutation_p.Q57*			Q96L91	EP400_HUMAN	E1A binding protein p400	57					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q57E(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCCAGTTATCAAATACAGCA	0.647																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											52.0	57.0	55.0					12																	132445333		2203	4300	6503	SO:0001587	stop_gained	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.169C>T	12.37:g.132445333C>T	ENSP00000333602:p.Gln57*		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q57*	ENST00000333577.4	37	c.169		12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397646	0.83120	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	.	.	.	5.69	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.8182	0.70050	0.0:0.9305:0.0:0.0695	.	.	.	.	X	57	.	ENSP00000330620:Q57X	Q	+	1	0	EP400	131011286	1.000000	0.71417	0.922000	0.36590	0.163000	0.22366	7.465000	0.80898	1.413000	0.46997	0.563000	0.77884	CAA	EP400	-	NULL		0.647	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		C	NM_015409		132445333	+1	no_errors	ENST00000333577	ensembl	human	known	70_37	nonsense	SNP	1.000	T
F8	2157	genome.wustl.edu	37	X	154158428	154158428	+	Missense_Mutation	SNP	T	T	A	rs387906450		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chrX:154158428T>A	ENST00000360256.4	-	14	3837	c.3637A>T	c.(3637-3639)Att>Ttt	p.I1213F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1213	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTCCTGAATTTTTTTTTCT	0.328																																																	0			GRCh37	CD930955	F8	D							26.0	25.0	25.0					X																	154158428		2203	4294	6497	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3637A>T	X.37:g.154158428T>A	ENSP00000353393:p.Ile1213Phe		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.I1213F	ENST00000360256.4	37	c.3637	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	t	0.954	-0.705549	0.03255	.	.	ENSG00000185010	ENST00000360256	D	0.99042	-5.36	5.73	-7.73	0.01245	.	1.046320	0.07435	N	0.896337	D	0.94042	0.8091	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.90432	0.4425	10	0.11485	T	0.65	0.0311	1.7252	0.02920	0.2552:0.0978:0.1546:0.4924	.	1213	P00451	FA8_HUMAN	F	1213	ENSP00000353393:I1213F	ENSP00000353393:I1213F	I	-	1	0	F8	153811622	0.001000	0.12720	0.000000	0.03702	0.227000	0.25037	-0.596000	0.05720	-1.221000	0.02591	-1.246000	0.01523	ATT	F8	-	NULL		0.328	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	T			154158428	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	0.000	A
ERICH6	131831	genome.wustl.edu	37	3	150384694	150384694	+	Silent	SNP	T	T	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:150384694T>C	ENST00000295910.6	-	13	1660	c.1608A>G	c.(1606-1608)aaA>aaG	p.K536K	FAM194A_ENST00000491361.1_Silent_p.K390K	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAAAGACAGGTTTAAATGAAA	0.403																																																	0													142.0	139.0	140.0					3																	150384694		2203	4300	6503	SO:0001819	synonymous_variant	131831																														ENST00000295910.6:c.1608A>G	3.37:g.150384694T>C				Silent	SNP	NULL	p.K536	ENST00000295910.6	37	c.1608	CCDS3151.2	3																																																																																			FAM194A	-	NULL		0.403	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	T			150384694	-1	no_errors	ENST00000295910	ensembl	human	known	70_37	silent	SNP	0.998	C
FAM98C	147965	genome.wustl.edu	37	19	38899501	38899502	+	In_Frame_Ins	INS	-	-	AAG	rs372349446|rs59917662|rs142977446	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:38899501_38899502insAAG	ENST00000252530.5	+	8	1048_1049	c.1029_1030insAAG	c.(1030-1032)aag>AAGaag	p.344_344K>KK	FAM98C_ENST00000343358.7_In_Frame_Ins_p.262_262K>KK|FAM98C_ENST00000588262.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	344										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTGGGGTCGCAAGAAGAAGAA	0.609														468	0.0934505	0.1241	0.1023	5008	,	,		11811	0.1984		0.0149	False		,,,				2504	0.0184																0																																										SO:0001652	inframe_insertion	147965				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1045_1047dupAAG	19.37:g.38899508_38899510dupAAG	ENSP00000252530:p.Lys349dup		A6NMW3|Q66K45	In_Frame_Ins	INS	pfam_Uncharacterised_FAM98	p.347in_frame_insK	ENST00000252530.5	37	c.1029_1030	CCDS42562.1	19																																																																																			FAM98C	-	NULL		0.609	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1	-	NM_174905		38899502	+1	no_errors	ENST00000252530	ensembl	human	known	70_37	in_frame_ins	INS	0.117:0.830	AAG
FEZF2	55079	genome.wustl.edu	37	3	62358300	62358300	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:62358300C>T	ENST00000283268.3	-	2	538	c.244G>A	c.(244-246)Gag>Aag	p.E82K	FEZF2_ENST00000475839.1_Missense_Mutation_p.E82K|FEZF2_ENST00000486811.1_Missense_Mutation_p.E82K	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	82					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GACGGCACCTCGTAGCCTAGG	0.706																																					NSCLC(170;1772 2053 12525 15604 23984)												0													30.0	34.0	33.0					3																	62358300		2203	4300	6503	SO:0001583	missense	55079			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.244G>A	3.37:g.62358300C>T	ENSP00000283268:p.Glu82Lys		A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E82K	ENST00000283268.3	37	c.244	CCDS2897.1	3	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395231	0.62066	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.08984	3.03;3.03;3.03	5.1	5.1	0.69264	.	0.099870	0.64402	D	0.000001	T	0.08223	0.0205	L	0.50333	1.59	0.58432	D	0.999995	P	0.47545	0.897	B	0.24701	0.055	T	0.15954	-1.0419	10	0.72032	D	0.01	-15.3945	18.119	0.89565	0.0:1.0:0.0:0.0	.	82	Q8TBJ5	FEZF2_HUMAN	K	82	ENSP00000418589:E82K;ENSP00000283268:E82K;ENSP00000418804:E82K	ENSP00000283268:E82K	E	-	1	0	FEZF2	62333340	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.977000	0.70492	2.399000	0.81585	0.555000	0.69702	GAG	FEZF2	-	NULL		0.706	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1	C	NM_018008		62358300	-1	no_errors	ENST00000283268	ensembl	human	known	70_37	missense	SNP	1.000	T
FGF1	2246	genome.wustl.edu	37	5	141993587	141993587	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:141993587G>A	ENST00000359370.6	-	2	185	c.106C>T	c.(106-108)Cac>Tac	p.H36Y	FGF1_ENST00000419524.2_Missense_Mutation_p.H36Y|FGF1_ENST00000360966.5_Missense_Mutation_p.H36Y|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000494579.1_Intron|FGF1_ENST00000407758.1_Missense_Mutation_p.H36Y|FGF1_ENST00000337706.2_Missense_Mutation_p.H36Y|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000378046.1_Missense_Mutation_p.H36Y	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	36					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	CTCAGGAAGTGGCCCCCGTTG	0.552																																																	0													129.0	117.0	121.0					5																	141993587		2203	4300	6503	SO:0001583	missense	2246			X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"""Endogenous ligands"""	3665	protein-coding gene	gene with protein product	"""heparin-binding growth factor 1"", ""endothelial cell growth factor, alpha"", ""endothelial cell growth factor, beta"""	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.106C>T	5.37:g.141993587G>A	ENSP00000352329:p.His36Tyr		B2R5T0|D3DQF2|P07502|Q16588	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.H36Y	ENST00000359370.6	37	c.106	CCDS4275.1	5	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795003	0.31777	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000360966;ENST00000407758;ENST00000441680;ENST00000419524;ENST00000394496;ENST00000411960	T;T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.61	3.82	0.43975	.	0.211018	0.42682	N	0.000672	T	0.18257	0.0438	N	0.03154	-0.405	0.41915	D	0.990486	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.08055	0.0;0.001;0.001;0.003	T	0.06215	-1.0839	10	0.21014	T	0.42	.	9.0658	0.36462	0.2195:0.0:0.7805:0.0	.	36;36;36;36	Q16089;A8K147;P05230-2;P05230	.;.;.;FGF1_HUMAN	Y	36	ENSP00000352329:H36Y;ENSP00000367285:H36Y;ENSP00000338548:H36Y;ENSP00000354231:H36Y;ENSP00000383969:H36Y;ENSP00000404742:H36Y;ENSP00000396195:H36Y;ENSP00000378005:H36Y;ENSP00000399458:H36Y	ENSP00000338548:H36Y	H	-	1	0	FGF1	141973771	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	2.084000	0.41625	1.386000	0.46466	0.650000	0.86243	CAC	FGF1	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd		0.552	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF1	HGNC	protein_coding	OTTHUMT00000132735.2	G	NM_000800		141993587	-1	no_errors	ENST00000337706	ensembl	human	known	70_37	missense	SNP	1.000	A
FLNC	2318	genome.wustl.edu	37	7	128498544	128498544	+	Silent	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr7:128498544C>T	ENST00000325888.8	+	48	8406	c.8145C>T	c.(8143-8145)gtC>gtT	p.V2715V	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.V2682V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2715	Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACGAAAGTGTCCCTGGAAGCC	0.537																																																	0													83.0	98.0	93.0					7																	128498544		2027	4184	6211	SO:0001819	synonymous_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.8145C>T	7.37:g.128498544C>T			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.V2715	ENST00000325888.8	37	c.8145	CCDS43644.1	7																																																																																			FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.537	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128498544	+1	no_errors	ENST00000325888	ensembl	human	known	70_37	silent	SNP	1.000	T
FRMD5	84978	genome.wustl.edu	37	15	44202144	44202144	+	Silent	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr15:44202144G>C	ENST00000417257.1	-	5	539	c.363C>G	c.(361-363)ctC>ctG	p.L121L	FRMD5_ENST00000402883.1_Silent_p.L121L|FRMD5_ENST00000484674.1_Silent_p.L32L	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	121	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GGCCATGGTAGAGATCCCTTT	0.373											OREG0003950	type=REGULATORY REGION|Gene=FRMD5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													57.0	51.0	53.0					15																	44202144		2198	4298	6496	SO:0001819	synonymous_variant	84978			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.363C>G	15.37:g.44202144G>C		922	Q8NBG4	Silent	SNP	pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.L121	ENST00000417257.1	37	c.363	CCDS10107.2	15																																																																																			FRMD5	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain		0.373	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD5	HGNC	protein_coding	OTTHUMT00000133879.1	G	NM_032892		44202144	-1	no_errors	ENST00000417257	ensembl	human	known	70_37	silent	SNP	1.000	C
FUK	197258	genome.wustl.edu	37	16	70506932	70506932	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:70506932C>T	ENST00000288078.6	+	15	1685	c.1453C>T	c.(1453-1455)Ctt>Ttt	p.L485F	FUK_ENST00000378912.2_Missense_Mutation_p.L517F|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	485						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				AGAGTACTGCCTTCCCAGCGC	0.647																																																	0													12.0	17.0	15.0					16																	70506932		2000	4162	6162	SO:0001583	missense	197258				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.1453C>T	16.37:g.70506932C>T	ENSP00000288078:p.Leu485Phe		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.L517F	ENST00000288078.6	37	c.1549	CCDS10891.2	16	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745104	0.69418	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.61274	0.12;0.12	5.84	4.89	0.63831	L-fucokinase (1);	0.070968	0.56097	N	0.000022	T	0.72953	0.3525	M	0.71581	2.175	0.80722	D	1	D;B	0.89917	1.0;0.413	D;B	0.97110	1.0;0.219	T	0.75789	-0.3194	10	0.87932	D	0	-14.8253	11.0283	0.47757	0.0:0.8587:0.0:0.1413	.	517;485	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	F	485;517	ENSP00000288078:L485F;ENSP00000368192:L517F	ENSP00000288078:L485F	L	+	1	0	FUK	69064433	1.000000	0.71417	0.049000	0.19019	0.697000	0.40408	3.901000	0.56303	1.488000	0.48433	0.655000	0.94253	CTT	FUK	-	pfam_Fucokinase		0.647	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	C	NM_145059		70506932	+1	no_errors	ENST00000378912	ensembl	human	known	70_37	missense	SNP	0.810	T
GAB4	128954	genome.wustl.edu	37	22	17444720	17444720	+	Splice_Site	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr22:17444720C>T	ENST00000400588.1	-	9	1584		c.e9-1			NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4											breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ATGCCGGGTTCTGCTGTCACA	0.592																																																	0													38.0	44.0	42.0					22																	17444720		1993	4196	6189	SO:0001630	splice_region_variant	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1477-1G>A	22.37:g.17444720C>T				Splice_Site	SNP	-	e9-1	ENST00000400588.1	37	c.1477-1	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	C	2.020	-0.424854	0.04734	.	.	ENSG00000215568	ENST00000400588	.	.	.	2.29	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4797	0.16717	0.0:0.161:0.0:0.839	.	.	.	.	.	-1	.	.	.	-	.	.	GAB4	15824720	1.000000	0.71417	0.884000	0.34674	0.010000	0.07245	4.001000	0.57046	0.308000	0.22923	-0.490000	0.04691	.	GAB4	-	-		0.592	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	C	XM_372882	Intron	17444720	-1	no_errors	ENST00000400588	ensembl	human	known	70_37	splice_site	SNP	1.000	T
GABRA6	2559	genome.wustl.edu	37	5	161128674	161128674	+	Silent	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:161128674G>A	ENST00000274545.5	+	9	1690	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	GABRA6_ENST00000523217.1_Silent_p.Q409Q			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	419					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AAATAGACCAGTATTCTCGAA	0.468										TCGA Ovarian(5;0.080)																																							0													132.0	120.0	124.0					5																	161128674		2203	4300	6503	SO:0001819	synonymous_variant	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1257G>A	5.37:g.161128674G>A			A8K096|Q4VAV2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.Q419	ENST00000274545.5	37	c.1257	CCDS4356.1	5																																																																																			GABRA6	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt		0.468	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	G			161128674	+1	no_errors	ENST00000274545	ensembl	human	known	70_37	silent	SNP	1.000	A
GLRA3	8001	genome.wustl.edu	37	4	175577900	175577900	+	Silent	SNP	T	T	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr4:175577900T>C	ENST00000274093.3	-	9	1612	c.1110A>G	c.(1108-1110)tcA>tcG	p.S370S	GLRA3_ENST00000340217.5_Intron	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	370					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTACCATATCTGAGAAACGGT	0.398																																																	0													80.0	76.0	77.0					4																	175577900		2203	4300	6503	SO:0001819	synonymous_variant	8001			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1110A>G	4.37:g.175577900T>C			D3DP44|O75816|Q5D0E3	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.S370	ENST00000274093.3	37	c.1110	CCDS3822.1	4																																																																																			GLRA3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_A3,tigrfam_Neur_channel		0.398	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	T			175577900	-1	no_errors	ENST00000274093	ensembl	human	known	70_37	silent	SNP	1.000	C
GRB14	2888	genome.wustl.edu	37	2	165365356	165365356	+	Missense_Mutation	SNP	G	G	A	rs570762396		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:165365356G>A	ENST00000263915.3	-	7	1361	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	GRB14_ENST00000543549.1_Missense_Mutation_p.R188W	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	275	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGCAAATGCCGCGGTTCCTTA	0.323																																																	0													83.0	84.0	84.0					2																	165365356		2203	4300	6503	SO:0001583	missense	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.823C>T	2.37:g.165365356G>A	ENSP00000263915:p.Arg275Trp		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.R275W	ENST00000263915.3	37	c.823	CCDS2222.1	2	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183321	0.57800	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.76968	-1.06;-1.06;-1.06	5.93	4.04	0.47022	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.050448	0.85682	D	0.000000	D	0.86020	0.5833	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.91635	0.878;0.999	D	0.86694	0.1925	10	0.87932	D	0	-14.6148	9.0268	0.36234	0.076:0.0:0.7006:0.2234	.	188;275	B7Z7F9;Q14449	.;GRB14_HUMAN	W	275;188;230	ENSP00000263915:R275W;ENSP00000443699:R188W;ENSP00000416786:R230W	ENSP00000263915:R275W	R	-	1	2	GRB14	165073602	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	4.199000	0.58426	1.516000	0.48900	0.650000	0.86243	CGG	GRB14	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.323	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2	G			165365356	-1	no_errors	ENST00000263915	ensembl	human	known	70_37	missense	SNP	0.996	A
GSTT2	2953	genome.wustl.edu	37	22	24325062	24325062	+	Splice_Site	SNP	G	G	A	rs2301423	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr22:24325062G>A	ENST00000215780.5	+	4	402	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	GSTT2_ENST00000402588.3_Splice_Site_p.V118M|DDT_ENST00000404092.1_5'Flank	NM_000854.3	NP_000845.1	P0CG29	GST2_HUMAN	glutathione S-transferase theta 2	118	GST C-terminal.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			lung(1)	1						CCCCCATCAGGTGTTGGGGCC	0.607																																																	0								G	MET/VAL	149,4255		2,145,2055	51.0	48.0	49.0		352	0.6	0.0	22	dbSNP_131	49	1352,7244		45,1262,2991	no	missense-near-splice	GSTT2	NM_000854.3	21	47,1407,5046	AA,AG,GG		15.7282,3.3833,11.5462	possibly-damaging	118/245	24325062	1501,11499	2202	4298	6500	SO:0001630	splice_region_variant	2953			L38503		22q11.23	2012-06-21			ENSG00000099984	ENSG00000099984	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4642	protein-coding gene	gene with protein product		600437				7789971, 9729470	Standard	NM_000854		Approved		uc002zyw.4	P0CG29	OTTHUMG00000150786	ENST00000215780.5:c.352-1G>A	22.37:g.24325062G>A			O60665|P30712|Q6IPV7|Q9HD76	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.V118M	ENST00000215780.5	37	c.352	CCDS13821.1	22	350	0.16025641025641027	4	0.008130081300813009	52	0.143646408839779	167	0.291958041958042	127	0.16754617414248021	g	7.443	0.641125	0.14386	0.033833	0.157282	ENSG00000099984	ENST00000215780;ENST00000402588	T;T	0.18810	2.19;2.19	1.71	0.639	0.17747	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.686514	0.13739	N	0.366086	T	0.00012	0.0000	L	0.52905	1.665	0.49130	P	2.4500000000005073E-4	D;P	0.76494	0.999;0.907	P;B	0.57846	0.828;0.408	T	0.28870	-1.0030	8	.	.	.	-14.4526	4.1421	0.10198	0.2239:0.0:0.7761:0.0	.	118;118	B5MCL2;P0CG29	.;GST2_HUMAN	M	118	ENSP00000215780:V118M;ENSP00000385765:V118M	.	V	+	1	0	GSTT2	22655062	0.240000	0.23847	0.016000	0.15963	0.391000	0.30476	-0.244000	0.08903	0.321000	0.23259	0.385000	0.25706	GTG	GSTT2	-	superfamily_Glutathione-S-Trfase_C-like		0.607	GSTT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTT2	HGNC	protein_coding	OTTHUMT00000320080.1	G	NM_000854	Missense_Mutation	24325062	+1	no_errors	ENST00000215780	ensembl	human	known	70_37	missense	SNP	0.104	A
GTPBP1	9567	genome.wustl.edu	37	22	39112087	39112087	+	Silent	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr22:39112087G>A	ENST00000216044.5	+	3	713	c.480G>A	c.(478-480)gaG>gaA	p.E160E		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	160	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					ACTTCCTGGAGGTCAGGTGAG	0.592																																																	0													51.0	43.0	46.0					22																	39112087		2199	4293	6492	SO:0001819	synonymous_variant	9567			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.480G>A	22.37:g.39112087G>A			Q6IC67	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel	p.E160	ENST00000216044.5	37	c.480	CCDS13977.2	22																																																																																			GTPBP1	-	NULL		0.592	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP1	HGNC	protein_coding	OTTHUMT00000075532.1	G	NM_004286		39112087	+1	no_errors	ENST00000216044	ensembl	human	known	70_37	silent	SNP	1.000	A
HAUS6	54801	genome.wustl.edu	37	9	19058250	19058250	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:19058250C>A	ENST00000380502.3	-	16	2982	c.2515G>T	c.(2515-2517)Gct>Tct	p.A839S	HAUS6_ENST00000380496.1_Missense_Mutation_p.A703S	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	839					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCTTCAGAGCCTCGTATCTA	0.448																																																	0													124.0	125.0	125.0					9																	19058250		2203	4300	6503	SO:0001583	missense	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2515G>T	9.37:g.19058250C>A	ENSP00000369871:p.Ala839Ser		B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.A839S	ENST00000380502.3	37	c.2515	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214576	0.39102	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.29397	1.6;1.57	5.65	4.72	0.59763	.	0.239154	0.41605	D	0.000853	T	0.36690	0.0976	L	0.60455	1.87	0.31419	N	0.674544	D;D;D	0.56521	0.976;0.976;0.976	P;P;P	0.50049	0.629;0.629;0.629	T	0.42582	-0.9443	10	0.40728	T	0.16	-9.8016	10.351	0.43937	0.1352:0.7927:0.0:0.0721	.	804;703;839	Q7Z4H7-3;Q5VY60;Q7Z4H7	.;.;HAUS6_HUMAN	S	839;703	ENSP00000369871:A839S;ENSP00000369865:A703S	ENSP00000369865:A703S	A	-	1	0	HAUS6	19048250	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	1.386000	0.34419	2.660000	0.90430	0.467000	0.42956	GCT	HAUS6	-	NULL		0.448	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	C	NM_017645		19058250	-1	no_errors	ENST00000380502	ensembl	human	known	70_37	missense	SNP	1.000	A
HGF	3082	genome.wustl.edu	37	7	81374376	81374376	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr7:81374376C>G	ENST00000222390.5	-	6	912	c.686G>C	c.(685-687)gGc>gCc	p.G229A	HGF_ENST00000444829.2_Missense_Mutation_p.G229A|HGF_ENST00000457544.2_Missense_Mutation_p.G224A|HGF_ENST00000453411.1_Missense_Mutation_p.G224A	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	229	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACAAATCTTGCCTGATTCTGT	0.388																																																	0													91.0	86.0	88.0					7																	81374376		2203	4300	6503	SO:0001583	missense	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.686G>C	7.37:g.81374376C>G	ENSP00000222390:p.Gly229Ala		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G229A	ENST00000222390.5	37	c.686	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601990	0.87055	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	4.73	4.73	0.59995	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	H	0.98965	4.385	0.80722	D	1	P;D;B;D	0.71674	0.857;0.998;0.303;0.974	B;P;B;P	0.59948	0.254;0.866;0.053;0.727	D	0.96127	0.9089	10	0.87932	D	0	.	18.2555	0.90019	0.0:1.0:0.0:0.0	.	224;229;224;229	P14210-5;P14210-2;P14210-3;P14210	.;.;.;HGF_HUMAN	A	229;224;229;224;229	ENSP00000222390:G229A;ENSP00000391238:G224A;ENSP00000389854:G229A;ENSP00000408270:G224A	ENSP00000222390:G229A	G	-	2	0	HGF	81212312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.940000	0.75917	2.609000	0.88269	0.655000	0.94253	GGC	HGF	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.388	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	C	NM_000601		81374376	-1	no_errors	ENST00000222390	ensembl	human	known	70_37	missense	SNP	1.000	G
HLA-A	3105	genome.wustl.edu	37	6	29912108	29912108	+	Missense_Mutation	SNP	G	G	C	rs2231095	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr6:29912108G>C	ENST00000396634.1	+	6	1170	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	HLA-A_ENST00000376802.2_Missense_Mutation_p.E277Q|HLA-A_ENST00000376806.5_Missense_Mutation_p.E277Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.E277Q			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	277	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCCTTCTGGAGAGGAGCAGAG	0.617									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			g|||	2247	0.448682	0.5129	0.4856	5008	,	,		18227	0.4167		0.4344	False		,,,				2504	0.3834																0													41.0	38.0	39.0					6																	29912108		1511	2707	4218	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.829G>C	6.37:g.29912108G>C	ENSP00000379873:p.Glu277Gln		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E277Q	ENST00000396634.1	37	c.829	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	1.666	-0.510311	0.04231	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	T;T;T;T	0.02974	4.09;4.09;4.09;4.09	3.69	-1.97	0.07503	Immunoglobulin-like (4);Immunoglobulin C1-set (8);Immunoglobulin-like fold (4);	0.573958	0.13893	U	0.355507	T	0.01695	0.0054	.	.	.	0.53688	P	2.199999999996649E-5	P;B;B;B;B;B;B	0.43633	0.813;0.0;0.041;0.0;0.134;0.0;0.0	P;B;B;B;B;B;B	0.58520	0.84;0.002;0.12;0.002;0.12;0.004;0.001	T	0.36383	-0.9750	8	0.09843	T	0.71	.	7.9497	0.30008	0.103:0.4273:0.4697:0.0	rs2231095;rs9260183;rs16896035;rs41547214	156;277;277;277;277;277;277	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	Q	277;277;65;277;277	ENSP00000379873:E277Q;ENSP00000366002:E277Q;ENSP00000366005:E277Q;ENSP00000365998:E277Q	ENSP00000365998:E277Q	E	+	1	0	HLA-A	30020087	0.001000	0.12720	0.962000	0.40283	0.439000	0.31926	0.112000	0.15479	-0.204000	0.10235	-3.416000	0.00038	GAG	HLA-A	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.617	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29912108	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	missense	SNP	0.846	C
ZNRD1-AS1	80862	genome.wustl.edu	37	6	29977350	29977350	+	RNA	SNP	T	T	G	rs2275852	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr6:29977350T>G	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		AGAGGCAAGATTTGTTCATGC	0.438													T|||	737	0.147165	0.2428	0.1297	5008	,	,		21676	0.1528		0.0457	False		,,,				2504	0.1288																0																																												3137			AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977350T>G				RNA	SNP	-	NULL	ENST00000376797.3	37	NULL		6																																																																																			HLA-J	-	-		0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	HLA-J	HGNC	antisense	OTTHUMT00000253083.1	T	NR_026751		29977350	+1	no_errors	ENST00000462773	ensembl	human	known	70_37	rna	SNP	0.001	G
HMCN1	83872	genome.wustl.edu	37	1	186141187	186141187	+	Silent	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:186141187G>A	ENST00000271588.4	+	102	15967	c.15738G>A	c.(15736-15738)aaG>aaA	p.K5246K	HMCN1_ENST00000367492.2_Silent_p.K5246K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5246	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCACTGTAAGAACACCCGTG	0.388																																																	0													146.0	134.0	138.0					1																	186141187		2203	4300	6503	SO:0001819	synonymous_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15738G>A	1.37:g.186141187G>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.K5246	ENST00000271588.4	37	c.15738	CCDS30956.1	1																																																																																			HMCN1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		186141187	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	silent	SNP	1.000	A
INPP5J	27124	genome.wustl.edu	37	22	31522641	31522641	+	Silent	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr22:31522641C>T	ENST00000331075.5	+	4	1477	c.1428C>T	c.(1426-1428)gaC>gaT	p.D476D	INPP5J_ENST00000405300.1_Silent_p.D109D|INPP5J_ENST00000400294.2_Silent_p.D109D|INPP5J_ENST00000404390.3_Silent_p.D108D|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000412277.2_Silent_p.D409D|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000402238.1_5'Flank	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	476	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GACTCAAGGACGCCCTCTTCA	0.617																																																	0													163.0	168.0	166.0					22																	31522641		2088	4214	6302	SO:0001819	synonymous_variant	27124			U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1428C>T	22.37:g.31522641C>T			B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.D476	ENST00000331075.5	37	c.1428		22																																																																																			INPP5J	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.617	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	INPP5J	HGNC	protein_coding	OTTHUMT00000321784.1	C	NM_001002837		31522641	+1	no_errors	ENST00000331075	ensembl	human	known	70_37	silent	SNP	0.967	T
ITGBL1	9358	genome.wustl.edu	37	13	102250542	102250542	+	Missense_Mutation	SNP	C	C	T	rs150262172	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr13:102250542C>T	ENST00000376180.3	+	7	1127	c.908C>T	c.(907-909)gCa>gTa	p.A303V	ITGBL1_ENST00000376162.3_Missense_Mutation_p.A210V|ITGBL1_ENST00000545560.2_Missense_Mutation_p.A162V	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	303	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GACTGCAAAGCAGGCTGGTAT	0.473																																																	0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	157.0	132.0	141.0		908	-0.4	0.4	13	dbSNP_134	141	12,8588	9.1+/-34.3	0,12,4288	yes	missense	ITGBL1	NM_004791.1	64	0,13,6490	TT,TC,CC		0.1395,0.0227,0.1	benign	303/495	102250542	13,12993	2203	4300	6503	SO:0001583	missense	9358			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.908C>T	13.37:g.102250542C>T	ENSP00000365351:p.Ala303Val		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	pfam_EGF_extracell,smart_EG-like_dom	p.A303V	ENST00000376180.3	37	c.908	CCDS9499.1	13	.	.	.	.	.	.	.	.	.	.	C	9.308	1.054928	0.19907	2.27E-4	0.001395	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.95821	-3.82;-3.82;-3.82	5.42	-0.424	0.12321	EGF, extracellular (1);Epidermal growth factor-like (1);	0.322570	0.35838	N	0.002957	D	0.90150	0.6922	L	0.46157	1.445	0.20196	N	0.999922	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.78929	-0.2010	10	0.31617	T	0.26	.	5.1507	0.15007	0.2028:0.3682:0.0:0.429	.	162;303	B3KTP1;O95965	.;ITGBL_HUMAN	V	303;211;162;162;210	ENSP00000365351:A303V;ENSP00000439903:A162V;ENSP00000365332:A210V	ENSP00000365332:A210V	A	+	2	0	ITGBL1	101048543	0.204000	0.23447	0.396000	0.26296	0.626000	0.37791	0.762000	0.26503	-0.094000	0.12374	-0.768000	0.03414	GCA	ITGBL1	-	pfam_EGF_extracell,smart_EG-like_dom		0.473	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	HGNC	protein_coding	OTTHUMT00000045669.2	C	NM_004791		102250542	+1	no_errors	ENST00000376180	ensembl	human	known	70_37	missense	SNP	0.144	T
JPH3	57338	genome.wustl.edu	37	16	87723265	87723265	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:87723265G>C	ENST00000284262.2	+	4	1541	c.1299G>C	c.(1297-1299)caG>caC	p.Q433H	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	433					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGGAGTACCAGAGGCCGAAGC	0.672																																																	0													36.0	27.0	30.0					16																	87723265		2194	4299	6493	SO:0001583	missense	57338			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1299G>C	16.37:g.87723265G>C	ENSP00000284262:p.Gln433His		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.Q433H	ENST00000284262.2	37	c.1299	CCDS10962.1	16	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373671	0.61624	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.51817	0.69	4.48	4.48	0.54585	.	0.137892	0.50627	D	0.000112	T	0.57961	0.2089	L	0.57536	1.79	0.58432	D	0.999996	D	0.61697	0.99	P	0.57776	0.827	T	0.61783	-0.6992	10	0.66056	D	0.02	.	11.7767	0.51989	0.0887:0.0:0.9113:0.0	.	433	Q8WXH2	JPH3_HUMAN	H	296;433	ENSP00000284262:Q433H	ENSP00000284262:Q433H	Q	+	3	2	JPH3	86280766	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	5.235000	0.65348	2.050000	0.60909	0.655000	0.94253	CAG	JPH3	-	pirsf_Junctophilin		0.672	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	G			87723265	+1	no_errors	ENST00000284262	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF1C	10749	genome.wustl.edu	37	17	4925967	4925967	+	Missense_Mutation	SNP	G	G	A	rs146628704	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:4925967G>A	ENST00000320785.5	+	22	2948	c.2591G>A	c.(2590-2592)cGc>cAc	p.R864H	AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	864					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CTGCGGGACCGCATGCTCCGC	0.637																																					Melanoma(96;1023 1447 10250 19259 33730)												0								G	HIS/ARG	0,4404		0,0,2202	21.0	22.0	21.0		2591	4.4	1.0	17	dbSNP_134	21	4,8596	3.7+/-12.6	0,4,4296	no	missense	KIF1C	NM_006612.5	29	0,4,6498	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	864/1104	4925967	4,13000	2202	4300	6502	SO:0001583	missense	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2591G>A	17.37:g.4925967G>A	ENSP00000320821:p.Arg864His		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R864H	ENST00000320785.5	37	c.2591	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117202	0.77323	0.0	4.65E-4	ENSG00000129250	ENST00000320785	T	0.74421	-0.84	4.4	4.4	0.53042	.	.	.	.	.	T	0.70378	0.3217	L	0.39898	1.24	0.35868	D	0.828017	D	0.67145	0.996	P	0.46320	0.512	T	0.79869	-0.1621	9	0.66056	D	0.02	.	14.5209	0.67849	0.0:0.0:1.0:0.0	.	864	O43896	KIF1C_HUMAN	H	864	ENSP00000320821:R864H	ENSP00000320821:R864H	R	+	2	0	KIF1C	4866691	0.009000	0.17119	1.000000	0.80357	0.999000	0.98932	1.013000	0.29937	2.285000	0.76669	0.655000	0.94253	CGC	KIF1C	-	NULL		0.637	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	G			4925967	+1	no_errors	ENST00000320785	ensembl	human	known	70_37	missense	SNP	1.000	A
KIN	22944	genome.wustl.edu	37	10	7797903	7797904	+	3'UTR	INS	-	-	AACT	rs138937189|rs201601599|rs71385670|rs397787637	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr10:7797903_7797904insAACT	ENST00000379562.4	-	0	1368_1369				KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Intron	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TTTAGCTGAACAACTATACAGT	0.297														3982	0.795128	0.7595	0.8761	5008	,	,		16308	0.8631		0.8579	False		,,,				2504	0.6513																0																																										SO:0001624	3_prime_UTR_variant	22944			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.*140->AGTT	10.37:g.7797904_7797907dupAACT				RNA	INS	-	NULL	ENST00000379562.4	37	NULL	CCDS7080.1	10																																																																																			KIN	-	-		0.297	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIN	HGNC	protein_coding	OTTHUMT00000046683.2	-	NM_012311		7797904	-1	no_errors	ENST00000463666	ensembl	human	known	70_37	rna	INS	0.042:0.040	AACT
KLK2	3817	genome.wustl.edu	37	19	51380002	51380002	+	Missense_Mutation	SNP	G	G	A	rs371591640		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:51380002G>A	ENST00000325321.3	+	3	706	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000391810.2_Missense_Mutation_p.E59K|KLK2_ENST00000358049.4_Missense_Mutation_p.E161K			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	161	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GGGCAGCATCGAACCAGAGGA	0.642			T	ETV4	prostate																																			Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0								G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	41.0	41.0	41.0		481,481	-6.0	0.0	19		41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KLK2	NM_001002231.1,NM_005551.3	56,56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	161/224,161/262	51380002	2,13004	2203	4300	6503	SO:0001583	missense	3817			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.481G>A	19.37:g.51380002G>A	ENSP00000313581:p.Glu161Lys		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E161K	ENST00000325321.3	37	c.481	CCDS12808.1	19	.	.	.	.	.	.	.	.	.	.	G	6.504	0.461142	0.12342	2.27E-4	1.16E-4	ENSG00000167751	ENST00000325321;ENST00000358049;ENST00000391810	D;D;D	0.88354	-2.37;-2.37;-2.37	3.01	-6.02	0.02192	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.262420	0.02598	N	0.100780	T	0.76154	0.3948	N	0.20574	0.59	0.09310	N	1	B;B;B	0.18166	0.026;0.011;0.008	B;B;B	0.13407	0.009;0.002;0.002	T	0.70353	-0.4895	10	0.06365	T	0.9	.	7.4518	0.27242	0.1921:0.4951:0.3128:0.0	.	144;161;161	B4DU77;P20151-2;P20151	.;.;KLK2_HUMAN	K	161;161;59	ENSP00000313581:E161K;ENSP00000350748:E161K;ENSP00000375686:E59K	ENSP00000313581:E161K	E	+	1	0	KLK2	56071814	.	.	0.000000	0.03702	0.105000	0.19272	.	.	-1.938000	0.01046	-0.714000	0.03626	GAA	KLK2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.642	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK2	HGNC	protein_coding	OTTHUMT00000464438.3	G	NM_005551.3		51380002	+1	no_errors	ENST00000325321	ensembl	human	known	70_37	missense	SNP	0.000	A
KRT86	3892	genome.wustl.edu	37	12	52699842	52699842	+	Splice_Site	SNP	A	A	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:52699842A>G	ENST00000423955.2	+	9	1204		c.e9-1		KRT86_ENST00000293525.5_Splice_Site|KRT86_ENST00000544024.1_Splice_Site|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTCTCTTCAGAATTCCAAG	0.597											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36.0	40.0	39.0					12																	52699842		2203	4300	6503	SO:0001630	splice_region_variant	3892			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1027-1A>G	12.37:g.52699842A>G		987	P78387	Splice_Site	SNP	-	e7-2	ENST00000423955.2	37	c.1027-2	CCDS41785.1	12	.	.	.	.	.	.	.	.	.	.	a	11.83	1.754422	0.31046	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.736	0.62817	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC021066.1;KRT86	50986109	1.000000	0.71417	0.985000	0.45067	0.126000	0.20510	7.289000	0.78701	1.997000	0.58415	0.454000	0.30748	.	KRT86	-	-		0.597	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	Uniprot_genename	protein_coding	OTTHUMT00000404911.1	A	NM_002284	Intron	52699842	+1	no_errors	ENST00000293525	ensembl	human	known	70_37	splice_site	SNP	1.000	G
KRT6B	3854	genome.wustl.edu	37	12	52845801	52845801	+	Missense_Mutation	SNP	T	T	C	rs428894	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:52845801T>C	ENST00000252252.3	-	1	109	c.62A>G	c.(61-63)aAc>aGc	p.N21S		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	21	Head.		N -> S (in dbSNP:rs428894). {ECO:0000269|PubMed:2410904, ECO:0000269|PubMed:7543104}.		ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CCTGGCTGAGTTGGCACTGAA	0.647																																																	0													14.0	16.0	15.0					12																	52845801		2180	4233	6413	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.62A>G	12.37:g.52845801T>C	ENSP00000252252:p.Asn21Ser		P48669	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.N21S	ENST00000252252.3	37	c.62	CCDS8828.1	12	1323	0.6057692307692307	240	0.4878048780487805	233	0.643646408839779	413	0.722027972027972	437	0.5765171503957783	C	5.203	0.222893	0.09863	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	T	0.74947	-0.89	2.98	2.98	0.34508	.	0.755412	0.12892	N	0.430493	T	0.00012	0.0000	N	0.01761	-0.735	0.54753	P	1.4999999999987246E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.44003	-0.9356	9	0.12430	T	0.62	.	6.1872	0.20503	0.0:0.5101:0.3697:0.1202	rs428894;rs1053681;rs3809177;rs4083307;rs4761915;rs17099820;rs59601513	21	P04259	K2C6B_HUMAN	S	21	ENSP00000252252:N21S	ENSP00000252252:N21S	N	-	2	0	KRT6B	51132068	0.065000	0.20965	0.911000	0.35937	0.615000	0.37417	0.318000	0.19504	0.849000	0.35215	-0.711000	0.03637	AAC	KRT6B	-	NULL		0.647	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	T	NM_005555		52845801	-1	no_errors	ENST00000252252	ensembl	human	known	70_37	missense	SNP	0.831	C
LARS2	23395	genome.wustl.edu	37	3	45554648	45554648	+	Silent	SNP	G	G	T	rs145796540	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:45554648G>T	ENST00000415258.1	+	15	1923	c.1782G>T	c.(1780-1782)ctG>ctT	p.L594L	LARS2_ENST00000414984.1_Silent_p.L551L|LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000265537.3_Silent_p.L594L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	594					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ATAAGCTGCTGGCCCAAGGCC	0.507																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	162.0	152.0	156.0		1782	1.4	1.0	3	dbSNP_134	156	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LARS2	NM_015340.3		0,3,6500	TT,TG,GG		0.0233,0.0227,0.0231		594/904	45554648	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23395			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1782G>T	3.37:g.45554648G>T				Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito	p.L594	ENST00000415258.1	37	c.1782	CCDS2728.1	3																																																																																			LARS2	-	pfam_aa-tRNA-synth_Ia,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito		0.507	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LARS2	HGNC	protein_coding	OTTHUMT00000345001.1	G	NM_015340		45554648	+1	no_errors	ENST00000265537	ensembl	human	known	70_37	silent	SNP	1.000	T
LFNG	3955	genome.wustl.edu	37	7	2552881	2552882	+	Frame_Shift_Ins	INS	-	-	GATG	rs34637446|rs61564232|rs397694506|rs373004749		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr7:2552881_2552882insGATG	ENST00000402506.1	+	2	264_265	c.138_139insGATG	c.(139-141)gatfs	p.-48fs		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase						compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		acagatggacagatggatggat	0.564																																																	0																																										SO:0001589	frameshift_variant	3955			BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000402506.1:c.163_166dupGATG	7.37:g.2552886_2552889dupGATG	ENSP00000385764:p.Gly48fs		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Frame_Shift_Ins	INS	pfam_Fringe-like	p.M50fs	ENST00000402506.1	37	c.138_139	CCDS55081.1	7																																																																																			LFNG	-	NULL		0.564	LFNG-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	LFNG	HGNC	protein_coding	OTTHUMT00000325023.1	-	NM_002304		2552882	+1	no_errors	ENST00000402506	ensembl	human	putative	70_37	frame_shift_ins	INS	0.003:0.004	GATG
LHFPL2	10184	genome.wustl.edu	37	5	77784660	77784660	+	3'UTR	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:77784660G>C	ENST00000515007.2	-	0	1057				LHFPL2_ENST00000380345.2_3'UTR			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		CTCAAATGATGAAACTGTGGA	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	10184			D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.*60C>G	5.37:g.77784660G>C			B2RMQ6|Q7Z5P0|Q92605	RNA	SNP	-	NULL	ENST00000515007.2	37	NULL	CCDS4042.1	5																																																																																			LHFPL2	-	-		0.453	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LHFPL2	HGNC	protein_coding	OTTHUMT00000369098.2	G	NM_005779		77784660	-1	no_errors	ENST00000502722	ensembl	human	putative	70_37	rna	SNP	0.000	C
LIN28A	79727	genome.wustl.edu	37	1	26751847	26751847	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:26751847G>T	ENST00000326279.6	+	3	396	c.282G>T	c.(280-282)gaG>gaT	p.E94D	LIN28A_ENST00000254231.4_Missense_Mutation_p.E94D	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	94	CSD.				germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AGGCAGTGGAGTTCACCTTTA	0.473																																																	0													120.0	115.0	117.0					1																	26751847		2203	4300	6503	SO:0001583	missense	79727			AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"""Zinc fingers, CCHC domain containing"""	15986	protein-coding gene	gene with protein product		611043	"""lin-28 homolog (C. elegans)"""	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.282G>T	1.37:g.26751847G>T	ENSP00000363314:p.Glu94Asp			Missense_Mutation	SNP	pfam_CSP_DNA-bd,pfam_Znf_CCHC,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd	p.E94D	ENST00000326279.6	37	c.282	CCDS280.1	1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613677	0.46631	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	T;T	0.56275	0.47;0.47	5.08	-0.0829	0.13696	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.352416	0.28296	N	0.015867	T	0.43986	0.1272	M	0.64997	1.995	0.24617	N	0.993696	B	0.09022	0.002	B	0.10450	0.005	T	0.42682	-0.9437	10	0.87932	D	0	.	6.124	0.20170	0.4416:0.127:0.4314:0.0	.	94	Q9H9Z2	LN28A_HUMAN	D	94	ENSP00000363314:E94D;ENSP00000254231:E94D	ENSP00000254231:E94D	E	+	3	2	LIN28A	26624434	1.000000	0.71417	0.986000	0.45419	0.982000	0.71751	3.040000	0.49799	-0.151000	0.11176	-0.182000	0.12963	GAG	LIN28A	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd		0.473	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN28A	HGNC	protein_coding	OTTHUMT00000009891.2	G	NM_024674		26751847	+1	no_errors	ENST00000254231	ensembl	human	known	70_37	missense	SNP	1.000	T
LINC00152	112597	genome.wustl.edu	37	2	87755101	87755101	+	lincRNA	SNP	C	C	T	rs1262	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:87755101C>T	ENST00000409054.1	+	0	215					NR_015395.1				long intergenic non-protein coding RNA 152																		TGCCTGAGCCCGTGCCTGTCT	0.483													C|||	1410	0.28155	0.1437	0.4827	5008	,	,		18930	0.0714		0.4394	False		,,,				2504	0.3793																0																																												112597			BC009508		2p11.2	2014-02-14	2011-08-11	2011-08-11	ENSG00000222041	ENSG00000222041		"""Long non-coding RNAs"""	28717	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 59"", ""non-protein coding RNA 152"""	C2orf59, NCRNA00152		24523021, 23801869, 22689435, 24036268	Standard	NR_024204		Approved	MGC4677	uc002ssk.4		OTTHUMG00000130273		2.37:g.87755101C>T				RNA	SNP	-	NULL	ENST00000409054.1	37	NULL		2																																																																																			LINC00152	-	-		0.483	LINC00152-005	KNOWN	basic	lincRNA	LINC00152	HGNC	lincRNA	OTTHUMT00000330387.3	C	XR_042051		87755101	+1	no_errors	ENST00000331944	ensembl	human	known	70_37	rna	SNP	0.000	T
LMOD1	25802	genome.wustl.edu	37	1	201868709	201868709	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:201868709G>A	ENST00000367288.4	-	2	1678	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	478					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCTGCAGCCGCTTTTGTCTC	0.592																																																	0													33.0	36.0	35.0					1																	201868709		2008	4160	6168	SO:0001583	missense	25802			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1432C>T	1.37:g.201868709G>A	ENSP00000356257:p.Arg478Trp		B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R478W	ENST00000367288.4	37	c.1432	CCDS53457.1	1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661475	0.67700	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.26660	1.72	4.51	2.46	0.29980	.	0.000000	0.36268	N	0.002681	T	0.51007	0.1649	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.58002	-0.7713	10	0.87932	D	0	-21.7722	11.6904	0.51512	0.0:0.0:0.6887:0.3113	.	427;478	B4E3S9;P29536	.;LMOD1_HUMAN	W	478;478;427	ENSP00000356257:R478W	ENSP00000356257:R478W	R	-	1	2	LMOD1	200135332	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	5.362000	0.66098	0.975000	0.38392	0.650000	0.86243	CGG	LMOD1	-	NULL		0.592	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2	G			201868709	-1	no_errors	ENST00000367288	ensembl	human	known	70_37	missense	SNP	1.000	A
TPM1	7168	genome.wustl.edu	37	15	63340990	63340990	+	Intron	SNP	C	C	T	rs117389407|rs371991942|rs370788719|rs386784734	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr15:63340990C>T	ENST00000403994.3	+	2	320				TPM1_ENST00000317516.7_Intron|TPM1_ENST00000559556.1_Intron|RP11-244F12.3_ENST00000561241.1_RNA|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000404484.4_Intron|RP11-244F12.3_ENST00000560903.1_RNA|TPM1_ENST00000288398.6_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000560959.1_Intron|TPM1_ENST00000559281.1_Intron	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)						cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						CTTCCCCCCCCGCAGGCCCCG	0.751													T|||	1136	0.226837	0.0651	0.1945	5008	,	,		10841	0.4415		0.1213	False		,,,				2504	0.3558																0																																										SO:0001627	intron_variant	100128979			AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.240+4639C>T	15.37:g.63340990C>T			B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	RNA	SNP	-	NULL	ENST00000403994.3	37	NULL	CCDS45273.1	15																																																																																			RP11-244F12.3	-	-		0.751	TPM1-002	KNOWN	basic|CCDS	protein_coding	LOC100128979	Clone_based_vega_gene	protein_coding	OTTHUMT00000417083.2	C	NM_001018004		63340990	-1	no_errors	ENST00000561241	ensembl	human	known	70_37	rna	SNP	0.005	T
TPM1	7168	genome.wustl.edu	37	15	63340993	63340993	+	Intron	SNP	A	A	C	rs571957126	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr15:63340993A>C	ENST00000403994.3	+	2	320				TPM1_ENST00000317516.7_Intron|TPM1_ENST00000559556.1_Intron|RP11-244F12.3_ENST00000561241.1_RNA|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000404484.4_Intron|RP11-244F12.3_ENST00000560903.1_RNA|TPM1_ENST00000288398.6_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000560959.1_Intron|TPM1_ENST00000559281.1_Intron	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)						cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						CCCCCCCCGCAGGCCCCGGTC	0.756													a|||	11	0.00219649	0.0	0.0029	5008	,	,		10752	0.001		0.004	False		,,,				2504	0.0041																0																																										SO:0001627	intron_variant	100128979			AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.240+4642A>C	15.37:g.63340993A>C			B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	RNA	SNP	-	NULL	ENST00000403994.3	37	NULL	CCDS45273.1	15	.	.	.	.	.	.	.	.	.	.	a	6.302	0.423810	0.11928	.	.	ENSG00000140416	ENST00000317516	.	.	.	2.33	-3.89	0.04193	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.5466	0.02566	0.3692:0.3504:0.1496:0.1308	.	.	.	.	.	-1	.	.	.	+	.	.	TPM1	61128046	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.445000	0.21677	-0.390000	0.07774	-0.815000	0.03128	.	RP11-244F12.3	-	-		0.756	TPM1-002	KNOWN	basic|CCDS	protein_coding	LOC100128979	Clone_based_vega_gene	protein_coding	OTTHUMT00000417083.2	A	NM_001018004		63340993	-1	no_errors	ENST00000561241	ensembl	human	known	70_37	rna	SNP	0.000	C
GAS8	2622	genome.wustl.edu	37	16	90110172	90110172	+	3'UTR	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:90110172C>T	ENST00000268699.4	+	0	1978				URAHP_ENST00000517889.1_RNA	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GTCACAGCTGCCCAGTGGGAT	0.607																																																	0																																										SO:0001624	3_prime_UTR_variant	100130015			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.*419C>T	16.37:g.90110172C>T			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF	p.A112T	ENST00000268699.4	37	c.334	CCDS10992.1	16	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176493	0.57692	.	.	ENSG00000222019	ENST00000517889	.	.	.	3.75	2.76	0.32466	.	.	.	.	.	T	0.29850	0.0746	.	.	.	0.19300	N	0.99998	P	0.51791	0.948	B	0.43082	0.407	T	0.07158	-1.0787	6	.	.	.	-10.5934	9.1442	0.36921	0.0:0.734:0.266:0.0	.	112	B7Z8Y8	.	T	112	.	.	A	-	1	0	AC133919.6	88637673	0.001000	0.12720	0.006000	0.13384	0.126000	0.20510	0.172000	0.16704	0.893000	0.36288	0.462000	0.41574	GCA	AC133919.6	-	NULL		0.607	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100130015	Clone_based_vega_gene	protein_coding	OTTHUMT00000272877.2	C			90110172	-1	no_errors	ENST00000517889	ensembl	human	novel	70_37	missense	SNP	0.009	T
SRP14-AS1	100131089	genome.wustl.edu	37	15	40357969	40357970	+	lincRNA	INS	-	-	A	rs573414881|rs112859598	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr15:40357969_40357970insA	ENST00000504245.1	+	0	795_796					NR_040060.1				SRP14 antisense RNA1 (head to head)																		atggtgtcttCAAAAAAAAAAa	0.366																																																	0																																												100131089					15q15.1	2013-05-24			ENSG00000248508	ENSG00000248508		"""Long non-coding RNAs"""	48619	non-coding RNA	RNA, long non-coding							Standard	NR_040059		Approved				OTTHUMG00000172392		15.37:g.40357980_40357980dupA				RNA	INS	-	NULL	ENST00000504245.1	37	NULL		15																																																																																			RP11-521C20.4	-	-		0.366	SRP14-AS1-001	KNOWN	basic	lincRNA	LOC100131089	Clone_based_vega_gene	lincRNA	OTTHUMT00000418269.1	-			40357970	+1	no_errors	ENST00000504245	ensembl	human	known	70_37	rna	INS	0.002:0.001	A
LOC151174	151174	genome.wustl.edu	37	2	239133938	239133938	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:239133938G>A	ENST00000409070.1	-	3	548	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S	AC016757.3_ENST00000409376.1_Missense_Mutation_p.P93S|AC016757.3_ENST00000409942.1_Missense_Mutation_p.P93S|AC016757.3_ENST00000334973.4_Missense_Mutation_p.P90S|AC016757.3_ENST00000470346.1_5'UTR																							GACCTCAGCGGAGCCTGGGAG	0.662																																																	0																																										SO:0001583	missense	151174																														ENST00000409070.1:c.337C>T	2.37:g.239133938G>A	ENSP00000386947:p.Pro113Ser			Missense_Mutation	SNP	NULL	p.P90S	ENST00000409070.1	37	c.268		2	.	.	.	.	.	.	.	.	.	.	G	9.041	0.989806	0.18966	.	.	ENSG00000186235	ENST00000409376;ENST00000334973;ENST00000409070;ENST00000409942	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	1.62	0.71	0.18157	.	.	.	.	.	T	0.63651	0.2529	.	.	.	.	.	.	B	0.24483	0.104	B	0.17979	0.02	T	0.60151	-0.7319	7	0.87932	D	0	.	4.0298	0.09703	0.2271:0.0:0.7729:0.0	.	113	E7EUL1	.	S	93;90;113;93	ENSP00000386409:P93S;ENSP00000334143:P90S;ENSP00000386947:P113S;ENSP00000386755:P93S	ENSP00000334143:P90S	P	-	1	0	AC016757.3	238798677	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.038000	0.13862	0.234000	0.21139	0.563000	0.77884	CCG	AC016757.3	-	NULL		0.662	AC016757.3-006	PUTATIVE	basic|appris_candidate_longest	protein_coding	LOC151174	Clone_based_vega_gene	protein_coding	OTTHUMT00000328480.1	G			239133938	-1	no_errors	ENST00000334973	ensembl	human	known	70_37	missense	SNP	0.000	A
LRRC4B	94030	genome.wustl.edu	37	19	51022613	51022613	+	Silent	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:51022613C>T	ENST00000599957.1	-	3	554	c.357G>A	c.(355-357)aaG>aaA	p.K119K	LRRC4B_ENST00000389201.3_Silent_p.K119K			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	119					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCACCAGGTTCTTGCTCAGCT	0.617																																																	0													35.0	37.0	37.0					19																	51022613		2129	4255	6384	SO:0001819	synonymous_variant	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.357G>A	19.37:g.51022613C>T			Q3ZCQ4|Q58F20	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K119	ENST00000599957.1	37	c.357	CCDS42595.1	19																																																																																			LRRC4B	-	smart_Leu-rich_rpt_typical-subtyp		0.617	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	C	NM_001080457		51022613	-1	no_errors	ENST00000389201	ensembl	human	known	70_37	silent	SNP	1.000	T
LRRC8A	56262	genome.wustl.edu	37	9	131671153	131671153	+	Silent	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:131671153G>A	ENST00000259324.5	+	3	2233	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	LRRC8A_ENST00000372600.4_Silent_p.Q570Q|LRRC8A_ENST00000372599.3_Silent_p.Q570Q	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	570					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGCACCTGCAGAAGCTGTCCA	0.587																																																	0													84.0	70.0	75.0					9																	131671153		2203	4300	6503	SO:0001819	synonymous_variant	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1710G>A	9.37:g.131671153G>A			Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q570	ENST00000259324.5	37	c.1710	CCDS35155.1	9																																																																																			LRRC8A	-	NULL		0.587	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	G	NM_019594		131671153	+1	no_errors	ENST00000259324	ensembl	human	known	70_37	silent	SNP	1.000	A
LRTM2	654429	genome.wustl.edu	37	12	1940559	1940559	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:1940559C>G	ENST00000543818.1	+	4	1368	c.526C>G	c.(526-528)Ctg>Gtg	p.L176V	CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.L176V|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.L176V	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	176						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTCCAACCGTCTGCAGAATCT	0.617																																																	0													50.0	55.0	53.0					12																	1940559		2203	4300	6503	SO:0001583	missense	654429			AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.526C>G	12.37:g.1940559C>G	ENSP00000446278:p.Leu176Val		A7E2U6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L176V	ENST00000543818.1	37	c.526	CCDS31726.1	12	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562747	0.45694	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.65916	-0.18;-0.18;-0.18	4.86	2.28	0.28536	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.83483	2.645	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.81095	-0.1088	10	0.72032	D	0.01	.	12.4451	0.55647	0.0:0.7819:0.0:0.2181	.	176	Q8N967	LRTM2_HUMAN	V	176	ENSP00000446278:L176V;ENSP00000299194:L176V;ENSP00000444737:L176V	ENSP00000299194:L176V	L	+	1	2	LRTM2	1810820	1.000000	0.71417	0.995000	0.50966	0.244000	0.25665	2.726000	0.47302	0.857000	0.35407	0.561000	0.74099	CTG	LRTM2	-	smart_Leu-rich_rpt_typical-subtyp		0.617	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	HGNC	protein_coding	OTTHUMT00000398055.1	C			1940559	+1	no_errors	ENST00000299194	ensembl	human	known	70_37	missense	SNP	1.000	G
MAN1C1	57134	genome.wustl.edu	37	1	25944781	25944781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:25944781C>T	ENST00000374332.4	+	1	823	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	165					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CGATGAGAGTCAGGAGCCCCA	0.637																																																	0													16.0	12.0	14.0					1																	25944781		1843	3823	5666	SO:0001587	stop_gained	57134			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.493C>T	1.37:g.25944781C>T	ENSP00000363452:p.Gln165*		A6NNE2|B2RNP2|Q9Y545	Nonsense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.Q165*	ENST00000374332.4	37	c.493	CCDS265.1	1	.	.	.	.	.	.	.	.	.	.	c	35	5.537383	0.96460	.	.	ENSG00000117643	ENST00000374332	.	.	.	4.67	-9.33	0.00639	.	2.652800	0.01007	N	0.003765	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	3.4789	0.07595	0.1568:0.412:0.3136:0.1176	.	.	.	.	X	165	.	ENSP00000363452:Q165X	Q	+	1	0	MAN1C1	25817368	0.011000	0.17503	0.002000	0.10522	0.429000	0.31625	-0.297000	0.08276	-1.376000	0.02126	-0.867000	0.03001	CAG	MAN1C1	-	superfamily_Glyco_hydro_47		0.637	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1C1	HGNC	protein_coding	OTTHUMT00000012828.3	C	NM_020379		25944781	+1	no_errors	ENST00000374332	ensembl	human	known	70_37	nonsense	SNP	0.000	T
MAPKAPK2	9261	genome.wustl.edu	37	1	206905167	206905167	+	Intron	SNP	C	C	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:206905167C>G	ENST00000367103.3	+	9	1171				MAPKAPK2_ENST00000479009.1_3'UTR|MAPKAPK2_ENST00000294981.4_Intron	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ACTCGGACCCCTTTTCTCTCT	0.582																																																	0													43.0	49.0	47.0					1																	206905167		2203	4300	6503	SO:0001627	intron_variant	9261			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.979-17C>G	1.37:g.206905167C>G			Q5SY30|Q5SY41|Q8IYD6	RNA	SNP	-	NULL	ENST00000367103.3	37	NULL	CCDS31001.1	1																																																																																			MAPKAPK2	-	-		0.582	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPKAPK2	HGNC	protein_coding	OTTHUMT00000088465.1	C	NM_004759		206905167	+1	no_errors	ENST00000479009	ensembl	human	putative	70_37	rna	SNP	0.072	G
DNASE2	1777	genome.wustl.edu	37	19	12984741	12984741	+	IGR	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:12984741G>A	ENST00000222219.3	-	0	1955				MAST1_ENST00000251472.4_Missense_Mutation_p.R1257H|AC020934.1_ENST00000578125.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GAGCCCCCTCGCTCGCCGCTC	0.682																																																	0													10.0	11.0	11.0					19																	12984741		2195	4280	6475	SO:0001628	intergenic_variant	22983			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12984741G>A			B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.R1257H	ENST00000222219.3	37	c.3770	CCDS12284.1	19	.	.	.	.	.	.	.	.	.	.	g	29.7	5.028132	0.93518	.	.	ENSG00000105613	ENST00000251472	T	0.52057	0.68	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.76170	2.325	0.54753	D	0.999981	D	0.89917	1.0	D	0.87578	0.998	T	0.73154	-0.4072	10	0.87932	D	0	-26.8549	15.807	0.78520	0.0:0.0:1.0:0.0	.	1257	Q9Y2H9	MAST1_HUMAN	H	1257	ENSP00000251472:R1257H	ENSP00000251472:R1257H	R	+	2	0	MAST1	12845741	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.809000	0.86057	2.402000	0.81655	0.552000	0.68991	CGC	MAST1	-	NULL		0.682	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451790.1	G			12984741	+1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	1.000	A
MAST4	375449	genome.wustl.edu	37	5	65892767	65892768	+	In_Frame_Ins	INS	-	-	GCC	rs200017963|rs200514960|rs373498382		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:65892767_65892768insGCC	ENST00000403625.2	+	1	579_580	c.284_285insGCC	c.(283-288)ctgccg>ctGCCgccg	p.98_99insP	MAST4_ENST00000406374.1_In_Frame_Ins_p.98_99insP|MAST4_ENST00000404260.3_In_Frame_Ins_p.98_99insP|MAST4_ENST00000406039.1_In_Frame_Ins_p.98_99insP	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	98						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GTCCTTGCGCTGCCGCCGCCGC	0.792																																																	0									,	108,1168		44,20,574					,	-1.6	0.4			1	553,2289		231,91,1099	no	coding,coding	MAST4	NM_198828.2,NM_001164664.1	,	275,111,1673	A1A1,A1R,RR		19.4581,8.4639,16.0515	,	,		661,3457				SO:0001652	inframe_insertion	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.291_293dupGCC	5.37:g.65892774_65892776dupGCC	ENSP00000385727:p.Pro99_Pro100dup		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	In_Frame_Ins	INS	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.99in_frame_insP	ENST00000403625.2	37	c.284_285	CCDS54861.1	5																																																																																			MAST4	-	NULL		0.792	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	-			65892768	+1	no_errors	ENST00000404260	ensembl	human	known	70_37	in_frame_ins	INS	0.152:0.543	GCC
MAU2	23383	genome.wustl.edu	37	19	19453623	19453623	+	Silent	SNP	G	G	A	rs375842161		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:19453623G>A	ENST00000392313.6	+	9	1100	c.921G>A	c.(919-921)gaG>gaA	p.E307E	MAU2_ENST00000262815.8_Silent_p.E307E	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	307					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GCTACCTGGAGAAGGCGCAGA	0.642											OREG0025380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G		0,4260		0,0,2130	117.0	126.0	123.0		921	3.0	1.0	19		123	1,8477		0,1,4238	no	coding-synonymous	MAU2	NM_015329.3		0,1,6368	AA,AG,GG		0.0118,0.0,0.0079		307/614	19453623	1,12737	2130	4239	6369	SO:0001819	synonymous_variant	23383			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.921G>A	19.37:g.19453623G>A		733	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.E307	ENST00000392313.6	37	c.921	CCDS32969.2	19																																																																																			MAU2	-	pfam_Cohesin_loading_factor		0.642	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	G	NM_015329		19453623	+1	no_errors	ENST00000262815	ensembl	human	known	70_37	silent	SNP	1.000	A
MDH1B	130752	genome.wustl.edu	37	2	207613788	207613788	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:207613788C>T	ENST00000374412.3	-	7	1447	c.1172G>A	c.(1171-1173)gGc>gAc	p.G391D	MDH1B_ENST00000449792.1_Missense_Mutation_p.G293D|MDH1B_ENST00000392214.2_Missense_Mutation_p.G178D|MDH1B_ENST00000454776.2_Missense_Mutation_p.G391D	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	391					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AGGTGGTGAGCCATGGTACCA	0.388																																					Pancreas(76;29 1355 28675 37177 51207)												0													133.0	115.0	121.0					2																	207613788		2203	4300	6503	SO:0001583	missense	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1172G>A	2.37:g.207613788C>T	ENSP00000363533:p.Gly391Asp		A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.G391D	ENST00000374412.3	37	c.1172	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	C	9.771	1.172729	0.21704	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776;ENST00000392214	T;T;T;T	0.66099	-0.19;-0.19;-0.19;2.99	5.75	3.71	0.42584	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.337701	0.34156	N	0.004217	T	0.64416	0.2596	L	0.56769	1.78	0.34736	D	0.73028	B;B	0.32753	0.218;0.383	B;P	0.44921	0.25;0.464	T	0.73442	-0.3981	10	0.52906	T	0.07	-16.8201	8.8949	0.35458	0.0:0.726:0.0:0.274	.	391;391	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	D	391;293;391;178	ENSP00000363533:G391D;ENSP00000416577:G293D;ENSP00000389916:G391D;ENSP00000376049:G178D	ENSP00000363533:G391D	G	-	2	0	MDH1B	207322033	0.985000	0.35326	0.998000	0.56505	0.300000	0.27592	0.907000	0.28531	1.433000	0.47394	0.650000	0.86243	GGC	MDH1B	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C		0.388	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2	C	NM_001039845		207613788	-1	no_errors	ENST00000374412	ensembl	human	known	70_37	missense	SNP	0.995	T
MEPE	56955	genome.wustl.edu	37	4	88759818	88759818	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr4:88759818G>C	ENST00000424957.3	+	3	162	c.89G>C	c.(88-90)aGc>aCc	p.S30T	MEPE_ENST00000497649.2_5'UTR|MEPE_ENST00000511670.1_Missense_Mutation_p.S30T|MEPE_ENST00000395102.4_Missense_Mutation_p.S30T|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.S30T|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000508016.1_3'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	30					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACTAAGCAAAGCTGTGTGGAA	0.338																																																	0													132.0	134.0	133.0					4																	88759818		2203	4300	6503	SO:0001583	missense	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.89G>C	4.37:g.88759818G>C	ENSP00000416984:p.Ser30Thr		A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	pfam_Osteoregulin	p.S30T	ENST00000424957.3	37	c.89	CCDS3625.1	4	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406283	0.25378	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000511670;ENST00000361056	T;T;T	0.21361	4.33;2.01;4.33	4.79	1.81	0.25067	.	0.701948	0.11823	N	0.525976	T	0.09730	0.0239	N	0.08118	0	0.80722	D	1	B	0.28233	0.204	B	0.23419	0.046	T	0.13388	-1.0511	10	0.62326	D	0.03	-5.6712	5.2195	0.15362	0.4729:0.0:0.5271:0.0	.	30	Q9NQ76	MEPE_HUMAN	T	30	ENSP00000416984:S30T;ENSP00000378534:S30T;ENSP00000354341:S30T	ENSP00000354341:S30T	S	+	2	0	MEPE	88978842	0.953000	0.32496	0.953000	0.39169	0.706000	0.40770	0.879000	0.28146	0.363000	0.24346	0.655000	0.94253	AGC	MEPE	-	NULL		0.338	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	G			88759818	+1	no_errors	ENST00000361056	ensembl	human	known	70_37	missense	SNP	0.968	C
MICALCL	84953	genome.wustl.edu	37	11	12315972	12315972	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:12315972C>A	ENST00000256186.2	+	3	1285	c.994C>A	c.(994-996)Cag>Aag	p.Q332K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	332					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TGGGAGAAACCAGTCCTCAGC	0.567																																																	0													88.0	99.0	95.0					11																	12315972		1989	4150	6139	SO:0001583	missense	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.994C>A	11.37:g.12315972C>A	ENSP00000256186:p.Gln332Lys		Q7RTP7|Q96JU6	Missense_Mutation	SNP	pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ	p.Q332K	ENST00000256186.2	37	c.994	CCDS41620.1	11	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326734	0.24080	.	.	ENSG00000133808	ENST00000256186	T	0.36699	1.24	5.43	5.43	0.79202	.	0.173042	0.27600	N	0.018641	T	0.32763	0.0840	M	0.64997	1.995	0.23076	N	0.998339	B	0.31485	0.325	B	0.25614	0.062	T	0.27226	-1.0080	10	0.11485	T	0.65	.	14.7414	0.69458	0.0:1.0:0.0:0.0	.	332	Q6ZW33	MICLK_HUMAN	K	332	ENSP00000256186:Q332K	ENSP00000256186:Q332K	Q	+	1	0	MICALCL	12272548	0.000000	0.05858	0.639000	0.29394	0.126000	0.20510	0.572000	0.23684	2.548000	0.85928	0.460000	0.39030	CAG	MICALCL	-	NULL		0.567	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	C	NM_032867		12315972	+1	no_errors	ENST00000256186	ensembl	human	known	70_37	missense	SNP	0.940	A
MICALL2	79778	genome.wustl.edu	37	7	1474116	1474116	+	3'UTR	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr7:1474116C>T	ENST00000297508.7	-	0	3006				MICALL2_ENST00000405088.4_3'UTR|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2						actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ATGCCGGGTCCGGGCCGAGCC	0.672																																																	0																																										SO:0001624	3_prime_UTR_variant	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.*116G>A	7.37:g.1474116C>T			D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	RNA	SNP	-	NULL	ENST00000297508.7	37	NULL	CCDS5324.1	7																																																																																			MICALL2	-	-		0.672	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	C	NM_182924		1474116	-1	no_errors	ENST00000471899	ensembl	human	known	70_37	rna	SNP	0.007	T
MKI67	4288	genome.wustl.edu	37	10	129917553	129917553	+	Silent	SNP	C	C	T	rs376171554		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr10:129917553C>T	ENST00000368654.3	-	5	693	c.318G>A	c.(316-318)agG>agA	p.R106R	MKI67_ENST00000368653.3_Silent_p.R106R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	106					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGTTGACTTCCTTCCATTCT	0.363																																																	0								C	,	0,4402		0,0,2201	161.0	139.0	146.0		318,318	-0.3	0.0	10		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MKI67	NM_001145966.1,NM_002417.4	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	106/2897,106/3257	129917553	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.318G>A	10.37:g.129917553C>T			Q5VWH2	Silent	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R106	ENST00000368654.3	37	c.318	CCDS7659.1	10																																																																																			MKI67	-	NULL		0.363	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	C	NM_002417		129917553	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	silent	SNP	0.001	T
KMT2C	58508	genome.wustl.edu	37	7	151864248	151864248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr7:151864248G>A	ENST00000262189.6	-	42	9951	c.9733C>T	c.(9733-9735)Cag>Tag	p.Q3245*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q3245*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3245	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)										AGCTGTTTCTGAACCATGCTT	0.388																																																	0													125.0	106.0	113.0					7																	151864248		2203	4300	6503	SO:0001587	stop_gained	58508			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.9733C>T	7.37:g.151864248G>A	ENSP00000262189:p.Gln3245*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_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.Q3245*	ENST00000262189.6	37	c.9733	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	53|53	20.407763|20.407763	0.99930|0.99930	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.44285|.	D|.	0.000480|.	.|T	.|0.76471	.|0.3992	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74377	.|-0.3685	.|4	0.87932|.	D|.	0|.	.|.	19.8183|19.8183	0.96579|0.96579	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	3245|750	.|.	ENSP00000262189:Q3245X|.	Q|S	-|-	1|2	0|0	MLL3|MLL3	151495181|151495181	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.813000|9.813000	0.99286|0.99286	2.761000|2.761000	0.94854|0.94854	0.650000|0.650000	0.86243|0.86243	CAG|TCA	MLL3	-	NULL		0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151864248	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MLXIP	22877	genome.wustl.edu	37	12	122618282	122618282	+	Missense_Mutation	SNP	C	C	T	rs199709826		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:122618282C>T	ENST00000319080.7	+	9	1612	c.1480C>T	c.(1480-1482)Cac>Tac	p.H494Y	MLXIP_ENST00000538698.1_Missense_Mutation_p.H101Y|MLXIP_ENST00000377037.2_Missense_Mutation_p.H84Y					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CACCCTCACCCACGATGCCCC	0.642																																					Esophageal Squamous(105;787 1493 16200 18566 52466)												0													39.0	48.0	45.0					12																	122618282		2185	4283	6468	SO:0001583	missense	22877			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1480C>T	12.37:g.122618282C>T	ENSP00000312834:p.His494Tyr			Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.H494Y	ENST00000319080.7	37	c.1480		12	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291767	0.59976	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000377037	T;T;T	0.61859	0.07;0.07;0.07	5.23	5.23	0.72850	.	0.248230	0.41194	D	0.000939	T	0.64907	0.2641	.	.	.	0.46061	D	0.998847	D;D	0.71674	0.991;0.998	D;P	0.73708	0.981;0.899	T	0.57682	-0.7769	9	0.02654	T	1	-16.5348	18.8133	0.92068	0.0:1.0:0.0:0.0	.	494;494	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	Y	494;101;101;84	ENSP00000312834:H494Y;ENSP00000440769:H101Y;ENSP00000366236:H84Y	ENSP00000312834:H494Y	H	+	1	0	MLXIP	121184235	0.986000	0.35501	0.933000	0.37362	0.524000	0.34500	4.663000	0.61532	2.437000	0.82529	0.655000	0.94253	CAC	MLXIP	-	NULL		0.642	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	MLXIP	HGNC	protein_coding	OTTHUMT00000401718.2	C	NM_014938		122618282	+1	no_errors	ENST00000319080	ensembl	human	known	70_37	missense	SNP	0.954	T
MMP2	4313	genome.wustl.edu	37	16	55516942	55516942	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:55516942A>G	ENST00000219070.4	+	2	784	c.275A>G	c.(274-276)aAt>aGt	p.N92S	MMP2_ENST00000437642.2_Missense_Mutation_p.N42S|MMP2_ENST00000543485.1_Missense_Mutation_p.N16S|MMP2_ENST00000570308.1_Missense_Mutation_p.N16S	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	92					angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CTTGACCAGAATACCATCGAG	0.537																																																	0													128.0	120.0	123.0					16																	55516942		2198	4300	6498	SO:0001583	missense	4313				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.275A>G	16.37:g.55516942A>G	ENSP00000219070:p.Asn92Ser		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin	p.N92S	ENST00000219070.4	37	c.275	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	A	2.159	-0.392648	0.04899	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.78816	-1.21;-1.21;-1.21	5.05	-4.58	0.03410	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.826765	0.11156	N	0.593618	T	0.56702	0.2003	L	0.28192	0.835	0.27241	N	0.959159	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49551	-0.8928	10	0.07325	T	0.83	.	9.8024	0.40773	0.7631:0.103:0.1339:0.0	.	42;92	E9PE45;P08253	.;MMP2_HUMAN	S	92;16;42	ENSP00000219070:N92S;ENSP00000444143:N16S;ENSP00000394237:N42S	ENSP00000219070:N92S	N	+	2	0	MMP2	54074443	0.002000	0.14202	0.715000	0.30552	0.764000	0.43329	0.228000	0.17814	-0.914000	0.03827	-0.467000	0.05162	AAT	MMP2	-	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like		0.537	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	A			55516942	+1	no_errors	ENST00000219070	ensembl	human	known	70_37	missense	SNP	0.868	G
MT-CO1	4512	genome.wustl.edu	37	M	6864	6864	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chrM:6864T>C	ENST00000361624.2	+	1	961	c.961T>C	c.(961-963)Ttt>Ctt	p.F321L	MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	321					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GCGTCAAAGTATTTAGCTGAC	0.473																																																	0																																										SO:0001583	missense	4512					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.961T>C	M.37:g.6864T>C	ENSP00000354499:p.Phe321Leu		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.F321L	ENST00000361624.2	37	c.961		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1		0.473	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		T	YP_003024028		6864	+1	no_errors	ENST00000361624	ensembl	human	known	70_37	missense	SNP	NULL	C
MT-ATP6	4508	genome.wustl.edu	37	M	9055	9055	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chrM:9055G>A	ENST00000361899.2	+	1	529	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	177			A -> T (in dbSNP:rs9645429).		ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						TAATTGGAAGCGCCACCCTAG	0.453																																																	0																																										SO:0001583	missense	4508					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.529G>A	M.37:g.9055G>A	ENSP00000354632:p.Ala177Thr		Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.A177T	ENST00000361899.2	37	c.529		MT																																																																																			MT-ATP6	-	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu		0.453	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	HGNC	protein_coding		G	YP_003024031		9055	+1	no_errors	ENST00000361899	ensembl	human	known	70_37	missense	SNP	NULL	A
MTMR6	9107	genome.wustl.edu	37	13	25840278	25840278	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr13:25840278G>C	ENST00000381801.5	-	4	1212	c.451C>G	c.(451-453)Cgg>Ggg	p.R151G	MTMR6_ENST00000540661.1_Missense_Mutation_p.R151G	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	151	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTGTAGTCCCGGTTGGCATCA	0.458																																																	0													89.0	78.0	82.0					13																	25840278		2203	4300	6503	SO:0001583	missense	9107			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.451C>G	13.37:g.25840278G>C	ENSP00000371221:p.Arg151Gly		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	pfam_Myotub-related,smart_Tyr_Pase_cat	p.R151G	ENST00000381801.5	37	c.451	CCDS9313.1	13	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631377	0.28978	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.93247	-3.19;-3.19	5.54	1.61	0.23674	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.93048	0.7787	M	0.90198	3.095	0.53688	D	0.99997	B;B	0.17667	0.023;0.004	B;B	0.18263	0.021;0.007	D	0.88956	0.3390	10	0.62326	D	0.03	.	9.2658	0.37641	0.0652:0.0:0.565:0.3698	.	151;151	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	G	151	ENSP00000443161:R151G;ENSP00000371221:R151G	ENSP00000371221:R151G	R	-	1	2	MTMR6	24738278	1.000000	0.71417	0.765000	0.31456	0.493000	0.33554	3.065000	0.49994	0.264000	0.21851	0.650000	0.86243	CGG	MTMR6	-	NULL		0.458	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR6	HGNC	protein_coding	OTTHUMT00000044225.1	G	NM_004685		25840278	-1	no_errors	ENST00000381801	ensembl	human	known	70_37	missense	SNP	0.999	C
MUC4	4585	genome.wustl.edu	37	3	195506350	195506350	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:195506350G>T	ENST00000463781.3	-	2	12560	c.12101C>A	c.(12100-12102)cCt>cAt	p.P4034H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P4034H|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGGTGACAGGAACAGGGGT	0.572																																																	0													26.0	15.0	18.0					3																	195506350		621	1367	1988	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12101C>A	3.37:g.195506350G>T	ENSP00000417498:p.Pro4034His		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P4034H	ENST00000463781.3	37	c.12101	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	5.056	0.195958	0.09599	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32988	1.43;1.51	0.613	0.613	0.17597	.	0.000000	0.25881	U	0.027698	T	0.23370	0.0565	N	0.08118	0	0.09310	N	1	D	0.67145	0.996	P	0.60117	0.869	T	0.11421	-1.0588	9	.	.	.	.	7.1401	0.25552	1.0E-4:0.0:0.9999:0.0	.	3906	E7ESK3	.	H	4034	ENSP00000417498:P4034H;ENSP00000420243:P4034H	.	P	-	2	0	MUC4	196991129	0.004000	0.15560	0.002000	0.10522	0.020000	0.10135	2.024000	0.41049	0.625000	0.30304	0.064000	0.15345	CCT	MUC4	-	NULL		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195506350	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.003	T
MUC5B	727897	genome.wustl.edu	37	11	1248315	1248315	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:1248315C>A	ENST00000529681.1	+	5	574	c.516C>A	c.(514-516)taC>taA	p.Y172*	MUC5B_ENST00000447027.1_Nonsense_Mutation_p.Y172*	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	172	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCGGGGACTACATCAAGGTCA	0.672																																																	0													31.0	36.0	34.0					11																	1248315		2033	4159	6192	SO:0001587	stop_gained	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.516C>A	11.37:g.1248315C>A	ENSP00000436812:p.Tyr172*		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.Y172*	ENST00000529681.1	37	c.516	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745832	0.49151	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	3.73	1.28	0.21552	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.2911	0.26366	0.0:0.5651:0.0:0.4349	.	.	.	.	X	172;172;172;205	.	ENSP00000343037:Y172X	Y	+	3	2	MUC5B	1204891	0.001000	0.12720	0.009000	0.14445	0.020000	0.10135	-0.205000	0.09411	0.071000	0.16664	0.455000	0.32223	TAC	MUC5B	-	pfam_VWF_type-D,smart_VWF_type-D		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1248315	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	nonsense	SNP	0.016	A
MYH6	4624	genome.wustl.edu	37	14	23866751	23866751	+	Splice_Site	SNP	C	C	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr14:23866751C>A	ENST00000356287.3	-	15	1992		c.e15+1		MYH6_ENST00000405093.3_Splice_Site			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha						adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCCTTCTTACCCGGTGGAGA	0.537																																																	0													80.0	77.0	78.0					14																	23866751		2203	4300	6503	SO:0001630	splice_region_variant	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1962+1G>T	14.37:g.23866751C>A			A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Splice_Site	SNP	-	e14+1	ENST00000356287.3	37	c.1962+1	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381440	0.82792	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8136	0.85727	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH6	22936591	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.136000	0.77285	2.387000	0.81309	0.655000	0.94253	.	MYH6	-	-		0.537	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	C		Intron	23866751	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	splice_site	SNP	1.000	A
MYO15A	51168	genome.wustl.edu	37	17	18025405	18025405	+	Silent	SNP	A	A	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:18025405A>C	ENST00000205890.5	+	2	3629	c.3291A>C	c.(3289-3291)ccA>ccC	p.P1097P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1097					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAGGGCCCCAGAGCCCCTGC	0.677																																																	0													38.0	44.0	42.0					17																	18025405		1920	4114	6034	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3291A>C	17.37:g.18025405A>C			B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.P1097	ENST00000205890.5	37	c.3291	CCDS42271.1	17																																																																																			MYO15A	-	NULL		0.677	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	A	NM_016239		18025405	+1	no_errors	ENST00000205890	ensembl	human	known	70_37	silent	SNP	0.001	C
MYOM2	9172	genome.wustl.edu	37	8	2054351	2054351	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr8:2054351G>A	ENST00000262113.4	+	23	3103	c.2962G>A	c.(2962-2964)Gac>Aac	p.D988N	MYOM2_ENST00000523438.1_Missense_Mutation_p.D413N	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	988	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGTGATACAGACGGAGTGTC	0.418																																																	0													102.0	99.0	100.0					8																	2054351		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2962G>A	8.37:g.2054351G>A	ENSP00000262113:p.Asp988Asn		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D988N	ENST00000262113.4	37	c.2962	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767075	0.69878	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.40476	1.03;1.03	5.31	5.31	0.75309	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110885	0.64402	D	0.000005	T	0.52484	0.1737	M	0.83223	2.63	0.58432	D	0.999998	P	0.47841	0.901	B	0.41946	0.371	T	0.64228	-0.6457	10	0.66056	D	0.02	.	18.9834	0.92763	0.0:0.0:1.0:0.0	.	988	P54296	MYOM2_HUMAN	N	988;413	ENSP00000262113:D988N;ENSP00000428396:D413N	ENSP00000262113:D988N	D	+	1	0	MYOM2	2041758	1.000000	0.71417	0.136000	0.22124	0.016000	0.09150	7.604000	0.82830	2.476000	0.83614	0.643000	0.83706	GAC	MYOM2	-	smart_Ig_sub,pfscan_Ig-like		0.418	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	G	NM_003970		2054351	+1	no_errors	ENST00000262113	ensembl	human	known	70_37	missense	SNP	1.000	A
MYRIP	25924	genome.wustl.edu	37	3	40085724	40085724	+	Silent	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:40085724C>T	ENST00000302541.6	+	3	636	c.294C>T	c.(292-294)caC>caT	p.H98H	MYRIP_ENST00000444716.1_Silent_p.H98H|MYRIP_ENST00000425621.1_Silent_p.H98H|MYRIP_ENST00000396217.3_Missense_Mutation_p.T55M	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	98	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACCAGAAGCACGAAAAGGCCT	0.552																																																	0													79.0	71.0	73.0					3																	40085724		2203	4300	6503	SO:0001819	synonymous_variant	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.294C>T	3.37:g.40085724C>T			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	pfam_Myrip/Melanophilin	p.T55M	ENST00000302541.6	37	c.164	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169616	0.38315	.	.	ENSG00000170011	ENST00000396217	T	0.23348	1.91	5.51	-11.0	0.00169	.	.	.	.	.	T	0.09686	0.0238	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.23297	-1.0192	7	.	.	.	.	3.3998	0.07319	0.1522:0.0993:0.3132:0.4352	.	55	Q32M42	.	M	55	ENSP00000379519:T55M	.	T	+	2	0	MYRIP	40060728	0.000000	0.05858	0.002000	0.10522	0.844000	0.47949	-0.460000	0.06720	-3.228000	0.00210	-0.251000	0.11542	ACG	MYRIP	-	NULL		0.552	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	C	NM_015460		40085724	+1	no_errors	ENST00000396217	ensembl	human	known	70_37	missense	SNP	0.013	T
MYT1	4661	genome.wustl.edu	37	20	62867944	62867944	+	Silent	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr20:62867944G>A	ENST00000328439.1	+	20	3298	c.2934G>A	c.(2932-2934)aaG>aaA	p.K978K	MYT1_ENST00000536311.1_Silent_p.K1005K	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTGCTGGAAAGAAGGGAAAAC	0.557																																					GBM(59;481 1041 20555 21139 33705)												0													150.0	128.0	136.0					20																	62867944		2203	4299	6502	SO:0001819	synonymous_variant	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2934G>A	20.37:g.62867944G>A			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.K1005	ENST00000328439.1	37	c.3015	CCDS13558.1	20																																																																																			MYT1	-	NULL		0.557	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	G	NM_004535		62867944	+1	no_errors	ENST00000536311	ensembl	human	known	70_37	silent	SNP	1.000	A
NAV3	89795	genome.wustl.edu	37	12	78444742	78444742	+	Silent	SNP	G	G	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:78444742G>T	ENST00000397909.2	+	11	2504	c.2331G>T	c.(2329-2331)tcG>tcT	p.S777S	NAV3_ENST00000266692.7_Silent_p.S777S|NAV3_ENST00000536525.2_Silent_p.S777S|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Silent_p.S777S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	777						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGACCCCTCGAGGTTCATGT	0.572										HNSCC(70;0.22)																																							0													66.0	66.0	66.0					12																	78444742		2074	4205	6279	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2331G>T	12.37:g.78444742G>T			Q8NFW7|Q9Y2E7	Silent	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S777	ENST00000397909.2	37	c.2331		12																																																																																			NAV3	-	NULL		0.572	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78444742	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	silent	SNP	0.004	T
NDRG1	10397	genome.wustl.edu	37	8	134276799	134276799	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr8:134276799C>T	ENST00000414097.2	-	4	1063	c.196G>A	c.(196-198)Ggc>Agc	p.G66S	NDRG1_ENST00000354944.5_Missense_Mutation_p.G66S|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000323851.7_Missense_Mutation_p.G66S|NDRG1_ENST00000522476.1_5'UTR|NDRG1_ENST00000537882.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	66					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGGTTCATGCCGATGTCATGG	0.572			T	ERG	prostate																																			Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	0													155.0	130.0	139.0					8																	134276799		2203	4300	6503	SO:0001583	missense	10397			X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.196G>A	8.37:g.134276799C>T	ENSP00000404854:p.Gly66Ser		B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	pfam_Ndr	p.G66S	ENST00000414097.2	37	c.196	CCDS34945.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.574101	0.96553	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000520230;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943;ENST00000521544;ENST00000522738	D;T;D;T;T;T;T;T;T;T	0.91351	-2.83;1.66;-2.83;1.66;1.66;1.66;1.66;1.66;1.66;1.66	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.96574	0.8882	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97270	0.9910	10	0.87932	D	0	-36.5164	18.0969	0.89493	0.0:1.0:0.0:0.0	.	66	Q92597	NDRG1_HUMAN	S	66;66;66;83;66;66;66;77;66;120	ENSP00000319977:G66S;ENSP00000347028:G66S;ENSP00000404854:G66S;ENSP00000428345:G83S;ENSP00000429994:G66S;ENSP00000429272:G66S;ENSP00000428384:G66S;ENSP00000429840:G77S;ENSP00000429524:G66S;ENSP00000428991:G120S	ENSP00000319977:G66S	G	-	1	0	NDRG1	134345981	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.187000	0.77730	2.622000	0.88805	0.561000	0.74099	GGC	NDRG1	-	pfam_Ndr		0.572	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDRG1	HGNC	protein_coding	OTTHUMT00000378805.1	C			134276799	-1	no_errors	ENST00000323851	ensembl	human	known	70_37	missense	SNP	1.000	T
NISCH	11188	genome.wustl.edu	37	3	52521596	52521596	+	Silent	SNP	G	G	A	rs139671304	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:52521596G>A	ENST00000479054.1	+	17	2160	c.2088G>A	c.(2086-2088)gcG>gcA	p.A696A	NISCH_ENST00000345716.4_Silent_p.A696A			Q9Y2I1	NISCH_HUMAN	nischarin	696	Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCCTGGGCGCGGACGAGGACT	0.647													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18028	0.0		0.001	False		,,,				2504	0.0																0								G		0,4406		0,0,2203	67.0	56.0	59.0		2088	-10.6	0.0	3	dbSNP_134	59	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	NISCH	NM_007184.3		0,6,6497	AA,AG,GG		0.0698,0.0,0.0461		696/1505	52521596	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2088G>A	3.37:g.52521596G>A			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.A696	ENST00000479054.1	37	c.2088	CCDS33767.1	3																																																																																			NISCH	-	NULL		0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	G	NM_007184		52521596	+1	no_errors	ENST00000345716	ensembl	human	known	70_37	silent	SNP	0.000	A
NPAS2	4862	genome.wustl.edu	37	2	101607315	101607315	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:101607315A>G	ENST00000335681.5	+	19	2377	c.2092A>G	c.(2092-2094)Agg>Ggg	p.R698G	AC016738.4_ENST00000452364.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.R763G	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	698					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAAGTCAGCAGGACGGGACG	0.637																																																	0													70.0	63.0	65.0					2																	101607315		2203	4300	6503	SO:0001583	missense	4862			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.2092A>G	2.37:g.101607315A>G	ENSP00000338283:p.Arg698Gly		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS	p.R763G	ENST00000335681.5	37	c.2287	CCDS2048.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.833|9.833	1.189031|1.189031	0.21954|0.21954	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000433408|ENST00000335681;ENST00000542504	.|T;T	.|0.04758	.|3.58;3.56	4.63|4.63	3.29|3.29	0.37713|0.37713	.|.	.|1.567330	.|0.03332	.|N	.|0.193583	T|T	0.03871|0.03871	0.0109|0.0109	N|N	0.13043|0.13043	0.29|0.29	0.24690|0.24690	N|N	0.993319|0.993319	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.29671|0.29671	-1.0004|-1.0004	5|10	.|0.25106	.|T	.|0.35	.|.	6.2731|6.2731	0.20965|0.20965	0.7871:0.0:0.2129:0.0|0.7871:0.0:0.2129:0.0	.|.	.|763;698	.|F5H027;Q99743	.|.;NPAS2_HUMAN	R|G	196|698;763	.|ENSP00000338283:R698G;ENSP00000438428:R763G	.|ENSP00000338283:R698G	Q|R	+|+	2|1	0|2	NPAS2|NPAS2	100973747|100973747	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	1.265000|1.265000	0.33027|0.33027	1.848000|1.848000	0.53677|0.53677	0.379000|0.379000	0.24179|0.24179	CAG|AGG	NPAS2	-	NULL		0.637	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	A			101607315	+1	no_errors	ENST00000542504	ensembl	human	known	70_37	missense	SNP	0.589	G
NPY6R	4888	genome.wustl.edu	37	5	137144191	137144191	+	RNA	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:137144191C>T	ENST00000510937.1	+	0	739					NR_002713.3		Q99463	NPY6R_HUMAN	neuropeptide Y receptor Y6 (pseudogene)							integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)										CATCTACACTCTGATGGACCA	0.438																																																	0																																												4888			D86519		5q31.2	2013-03-26			ENSG00000226306	ENSG00000226306		"""GPCR / Class A : Neuropeptide receptors : Y"""	7959	pseudogene	pseudogene		601770				8910373, 8910290	Standard	NR_002713		Approved	PP2, NPY1RL, NPY6RP	uc011cyf.2	Q99463	OTTHUMG00000163236		5.37:g.137144191C>T			D3DQB4	RNA	SNP	-	NULL	ENST00000510937.1	37	NULL		5																																																																																			NPY6R	-	-		0.438	NPY6R-003	KNOWN	basic	processed_transcript	NPY6R	HGNC	pseudogene	OTTHUMT00000373630.1	C			137144191	+1	no_errors	ENST00000510937	ensembl	human	known	70_37	rna	SNP	0.427	T
OBSCN	84033	genome.wustl.edu	37	1	228461703	228461703	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:228461703C>A	ENST00000422127.1	+	18	5414	c.5370C>A	c.(5368-5370)agC>agA	p.S1790R	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.S2165R|OBSCN_ENST00000359599.6_Missense_Mutation_p.S637R|RP5-1139B12.2_ENST00000602517.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.S1790R|RP5-1139B12.3_ENST00000602947.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1790	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCATCTACAGCTGCCGTGTGG	0.677																																																	0													18.0	22.0	21.0					1																	228461703		2093	4203	6296	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5370C>A	1.37:g.228461703C>A	ENSP00000409493:p.Ser1790Arg		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S1790R	ENST00000422127.1	37	c.5370	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489562	0.44249	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.76578	-1.03;-1.03;-1.03	5.38	3.52	0.40303	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.231777	0.36591	N	0.002508	T	0.69260	0.3091	L	0.33753	1.03	0.80722	D	1	D;P	0.54397	0.966;0.944	P;P	0.51615	0.617;0.675	T	0.64011	-0.6507	10	0.10111	T	0.7	.	6.7486	0.23475	0.1417:0.7093:0.0:0.1491	.	1790;1790	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	1790;1790;637	ENSP00000284548:S1790R;ENSP00000409493:S1790R;ENSP00000352613:S637R	ENSP00000284548:S1790R	S	+	3	2	OBSCN	226528326	0.282000	0.24268	0.998000	0.56505	0.018000	0.09664	-0.049000	0.11924	0.668000	0.31126	-0.263000	0.10527	AGC	OBSCN	-	pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228461703	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.999	A
OR2T27	403239	genome.wustl.edu	37	1	248813733	248813734	+	Frame_Shift_Ins	INS	-	-	C	rs200669807	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:248813733_248813734insC	ENST00000344889.3	-	1	451_452	c.452_453insG	c.(451-453)ggafs	p.G151fs		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGATAGACCCTCCCAGCCAGGC	0.569													CCC|CCC|CCCC|insertion	124	0.0247604	0.062	0.0303	5008	,	,		20740	0.0		0.0169	False		,,,				2504	0.0041																0										286,3746		15,256,1745						-0.9	0.5			22	137,6167		11,115,3026	no	frameshift	OR2T27	NM_001001824.1		26,371,4771	A1A1,A1R,RR		2.1732,7.0933,4.0925				423,9913				SO:0001589	frameshift_variant	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.453dupG	1.37:g.248813736_248813736dupC	ENSP00000342008:p.Gly151fs			Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G152fs	ENST00000344889.3	37	c.453_452	CCDS31124.1	1																																																																																			OR2T27	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.569	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1	-	NM_001001824		248813734	-1	no_errors	ENST00000344889	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	C
OR2T34	127068	genome.wustl.edu	37	1	248737595	248737595	+	Missense_Mutation	SNP	A	A	G	rs150601708	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:248737595A>G	ENST00000328782.2	-	1	485	c.464T>C	c.(463-465)gTt>gCt	p.V155A		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V155A(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATTCCCAAAACCCAGCAGGC	0.522																																																	1	Substitution - Missense(1)	ovary(1)											17.0	23.0	21.0					1																	248737595		2143	4273	6416	SO:0001583	missense	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.464T>C	1.37:g.248737595A>G	ENSP00000330904:p.Val155Ala		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V155A	ENST00000328782.2	37	c.464	CCDS31120.1	1	602	0.27564102564102566	196	0.3983739837398374	85	0.23480662983425415	151	0.263986013986014	170	0.22427440633245382	.	5.973	0.363525	0.11296	.	.	ENSG00000183310	ENST00000328782	T	0.38722	1.12	2.34	0.992	0.19819	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	N	0.10685	0.025	0.80722	P	0.0	B	0.15930	0.015	B	0.19666	0.026	T	0.47522	-0.9111	8	0.28530	T	0.3	.	6.4829	0.22073	0.7538:0.2461:0.0:0.0	.	155	Q8NGX1	O2T34_HUMAN	A	155	ENSP00000330904:V155A	ENSP00000330904:V155A	V	-	2	0	OR2T34	246804218	0.000000	0.05858	0.011000	0.14972	0.090000	0.18270	-0.276000	0.08514	0.953000	0.37825	0.319000	0.21371	GTT	OR2T34	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.522	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T34	HGNC	protein_coding	OTTHUMT00000097138.1	A	NM_001001821		248737595	-1	no_errors	ENST00000328782	ensembl	human	known	70_37	missense	SNP	0.002	G
OR2T27	403239	genome.wustl.edu	37	1	248813749	248813749	+	Missense_Mutation	SNP	G	G	A	rs151135924	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:248813749G>A	ENST00000344889.3	-	1	436	c.437C>T	c.(436-438)gCg>gTg	p.A146V		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A146E(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGGCTGCCGCCACAATCAA	0.557													G|||	242	0.0483227	0.146	0.0346	5008	,	,		22556	0.001		0.0199	False		,,,				2504	0.0041																1	Substitution - Missense(1)	lung(1)						A	VAL/ALA	610,3782		32,546,1618	52.0	39.0	43.0		437	-1.8	0.1	1	dbSNP_134	43	128,8364		0,128,4118	no	missense	OR2T27	NM_001001824.1	64	32,674,5736	AA,AG,GG		1.5073,13.8889,5.728	benign	146/318	248813749	738,12146	2196	4246	6442	SO:0001583	missense	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.437C>T	1.37:g.248813749G>A	ENSP00000342008:p.Ala146Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A146V	ENST00000344889.3	37	c.437	CCDS31124.1	1	103	0.04716117216117216	77	0.1565040650406504	10	0.027624309392265192	2	0.0034965034965034965	14	0.018469656992084433	.	1.086	-0.665498	0.03428	0.138889	0.015073	ENSG00000187701	ENST00000344889	T	0.38077	1.16	3.3	-1.81	0.07882	GPCR, rhodopsin-like superfamily (1);	1.680850	0.03711	N	0.250303	T	0.00109	0.0003	N	0.26130	0.795	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.15122	-1.0448	10	0.22706	T	0.39	.	8.5008	0.33156	0.58:0.0:0.42:0.0	.	146	Q8NH04	O2T27_HUMAN	V	146	ENSP00000342008:A146V	ENSP00000342008:A146V	A	-	2	0	OR2T27	246880372	0.000000	0.05858	0.075000	0.20258	0.051000	0.14879	-1.413000	0.02473	-0.181000	0.10619	-1.031000	0.02408	GCG	OR2T27	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1	G	NM_001001824		248813749	-1	no_errors	ENST00000344889	ensembl	human	known	70_37	missense	SNP	0.000	A
OR52B2	255725	genome.wustl.edu	37	11	6191249	6191249	+	Missense_Mutation	SNP	C	C	A	rs373301786		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr11:6191249C>A	ENST00000530810.1	-	1	389	c.308G>T	c.(307-309)gGc>gTc	p.G103V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAAAGAAGCCTTGGGTGAC	0.493																																					NSCLC(5;186 261 1778 7098 14207)												0													113.0	117.0	115.0					11																	6191249		2172	4283	6455	SO:0001583	missense	255725			AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.308G>T	11.37:g.6191249C>A	ENSP00000432011:p.Gly103Val		Q8NGM7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G103V	ENST00000530810.1	37	c.308	CCDS53598.1	11	.	.	.	.	.	.	.	.	.	.	A	11.17	1.561209	0.27915	.	.	ENSG00000255307	ENST00000530810	T	0.02974	4.09	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01189	0.0039	N	0.00483	-1.445	0.41802	D	0.989923	B	0.02656	0.0	B	0.01281	0.0	T	0.57952	-0.7722	9	0.39692	T	0.17	.	11.5279	0.50591	0.8498:0.1502:0.0:0.0	.	103	Q96RD2	O52B2_HUMAN	V	103	ENSP00000432011:G103V	ENSP00000432011:G103V	G	-	2	0	OR52B2	6147825	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.321000	0.59209	0.943000	0.37553	-0.269000	0.10298	GGC	OR52B2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.493	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B2	HGNC	protein_coding	OTTHUMT00000385977.1	C	NM_001004052		6191249	-1	no_errors	ENST00000530810	ensembl	human	known	70_37	missense	SNP	1.000	A
OSGIN2	734	genome.wustl.edu	37	8	90937187	90937187	+	Silent	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr8:90937187C>T	ENST00000297438.2	+	6	1300	c.945C>T	c.(943-945)gaC>gaT	p.D315D	OSGIN2_ENST00000451899.2_Silent_p.D359D	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	315					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTGCCGCTGACGCAGTACTGT	0.428																																																	0													127.0	115.0	119.0					8																	90937187		2203	4300	6503	SO:0001819	synonymous_variant	734			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.945C>T	8.37:g.90937187C>T				Silent	SNP	NULL	p.D359	ENST00000297438.2	37	c.1077	CCDS6248.1	8																																																																																			OSGIN2	-	NULL		0.428	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	OSGIN2	HGNC	protein_coding	OTTHUMT00000375691.1	C	NM_004337		90937187	+1	no_errors	ENST00000451899	ensembl	human	known	70_37	silent	SNP	0.998	T
P2RY8	286530	genome.wustl.edu	37	X	1585079	1585079	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chrX:1585079C>T	ENST00000381297.4	-	2	583	c.373G>A	c.(373-375)Gtc>Atc	p.V125I	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGTACAGGACCCCCAGGAAG	0.647			T	CRLF2	"""B-ALL, Downs associated ALL"""								c|||	657	0.13119	0.2254	0.1527	5008	,	,		17726	0.004		0.171	False		,,,				2504	0.0787							Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	"""purinergic receptor P2Y, G-protein coupled, 8"""		L	0								C	ILE/VAL	1033,3371		112,809,1281	85.0	83.0	84.0		373	2.3	1.0	X	dbSNP_134	84	1622,6968		157,1308,2830	no	missense	P2RY8	NM_178129.4	29	269,2117,4111	TT,TC,CC		18.8824,23.4559,20.4325	possibly-damaging	125/360	1585079	2655,10339	2202	4295	6497	SO:0001583	missense	286530			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.373G>A	X.37:g.1585079C>T	ENSP00000370697:p.Val125Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt	p.V125I	ENST00000381297.4	37	c.373	CCDS14115.1	X	293	0.13415750915750915	103	0.20934959349593496	57	0.1574585635359116	1	0.0017482517482517483	132	0.1741424802110818	c	0.231	-1.020709	0.02061	0.234559	0.188824	ENSG00000182162	ENST00000381297	T	0.65364	-0.15	2.26	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.086698	0.46442	U	0.000296	T	0.00012	0.0000	N	0.12569	0.235	0.09310	N	1	P	0.43169	0.8	B	0.39660	0.306	T	0.00617	-1.1642	10	0.23891	T	0.37	.	12.6106	0.56547	0.0:1.0:0.0:0.0	.	125	Q86VZ1	P2RY8_HUMAN	I	125	ENSP00000370697:V125I	ENSP00000370697:V125I	V	-	1	0	P2RY8	1545079	1.000000	0.71417	0.954000	0.39281	0.305000	0.27757	3.923000	0.56469	0.740000	0.32651	0.279000	0.19357	GTC	P2RY8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor		0.647	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY8	HGNC	protein_coding	OTTHUMT00000055602.1	C	NM_178129		1585079	-1	no_errors	ENST00000381297	ensembl	human	known	70_37	missense	SNP	1.000	T
PABPC4	8761	genome.wustl.edu	37	1	40030878	40030878	+	Missense_Mutation	SNP	T	T	C	rs9820		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:40030878T>C	ENST00000372857.3	-	8	1937	c.1145A>G	c.(1144-1146)tAt>tGt	p.Y382C	PABPC4_ENST00000372858.3_Missense_Mutation_p.Y382C|PABPC4_ENST00000372862.3_Missense_Mutation_p.Y382C|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.Y382C|SNORA55_ENST00000364587.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	382			Y -> F (in dbSNP:rs9820).		blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCGTTGCATATACTGGTTGGT	0.537																																																	0													112.0	93.0	99.0					1																	40030878		2203	4300	6503	SO:0001583	missense	8761			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1145A>G	1.37:g.40030878T>C	ENSP00000361948:p.Tyr382Cys		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.Y382C	ENST00000372857.3	37	c.1145	CCDS438.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.517095|4.517095	0.85495|0.85495	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000421687;ENST00000527718|ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	.|T;T;T;T	.|0.16457	.|2.41;2.45;2.43;2.34	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.35941|0.35941	0.0949|0.0949	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.52577	.|0.813;0.954;0.71	.|B;P;P	.|0.51866	.|0.413;0.618;0.682	T|T	0.16541|0.16541	-1.0399|-1.0399	5|10	.|0.66056	.|D	.|0.02	.|.	16.4311|16.4311	0.83844|0.83844	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|382;382;382	.|Q13310;Q13310-2;Q4VC03	.|PABP4_HUMAN;.;.	V|C	284;109|382	.|ENSP00000361953:Y382C;ENSP00000361949:Y382C;ENSP00000361948:Y382C;ENSP00000361947:Y382C	.|ENSP00000361947:Y382C	I|Y	-|-	1|2	0|0	PABPC4|PABPC4	39803465|39803465	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.991000|0.991000	0.79684|0.79684	8.013000|8.013000	0.88655|0.88655	2.277000|2.277000	0.76020|0.76020	0.528000|0.528000	0.53228|0.53228	ATA|TAT	PABPC4	-	tigrfam_PABP_1234		0.537	PABPC4-001	KNOWN	basic|CCDS	protein_coding	PABPC4	HGNC	protein_coding	OTTHUMT00000025220.1	T	NM_001135653		40030878	-1	no_errors	ENST00000372858	ensembl	human	known	70_37	missense	SNP	1.000	C
PAQR8	85315	genome.wustl.edu	37	6	52268056	52268056	+	Silent	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr6:52268056C>T	ENST00000442253.2	+	2	219	c.45C>T	c.(43-45)agC>agT	p.S15S	PAQR8_ENST00000360726.3_Silent_p.S15S	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	15					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TGTCGGTCAGCGGGCAGCAGC	0.667																																																	0													30.0	29.0	29.0					6																	52268056		2200	4300	6500	SO:0001819	synonymous_variant	85315			AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.45C>T	6.37:g.52268056C>T			B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	pfam_HlyIII-related,superfamily_C-type_lectin_fold	p.S15	ENST00000442253.2	37	c.45	CCDS4941.1	6																																																																																			PAQR8	-	NULL		0.667	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR8	HGNC	protein_coding	OTTHUMT00000040903.2	C	NM_133367		52268056	+1	no_errors	ENST00000360726	ensembl	human	known	70_37	silent	SNP	0.850	T
PCDHA2	56146	genome.wustl.edu	37	5	140176634	140176634	+	Missense_Mutation	SNP	T	T	G	rs375001935		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:140176634T>G	ENST00000526136.1	+	1	2085	c.2085T>G	c.(2083-2085)gaT>gaG	p.D695E	PCDHA2_ENST00000378132.1_Missense_Mutation_p.D695E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D695E	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	695					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGGATGTCAACGTGT	0.662																																																	0								T	,GLU/ASP,,GLU/ASP	0,4406		0,0,2203	82.0	82.0	82.0		,2085,,2085	-5.0	0.2	5		82	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense,intron,missense	PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_031411.1,NM_031495.1	,45,,45	0,2,6501	GG,GT,TT		0.0233,0.0,0.0154	,,,	,695/949,,695/825	140176634	2,13004	2203	4300	6503	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2085T>G	5.37:g.140176634T>G	ENSP00000431748:p.Asp695Glu		O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D695E	ENST00000526136.1	37	c.2085	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	t	15.04	2.715109	0.48622	0.0	2.33E-4	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52754	0.73;0.65;0.7	3.96	-4.97	0.03029	.	0.376525	0.18456	U	0.140678	T	0.54743	0.1877	M	0.90145	3.09	0.09310	N	1	P;P;P	0.45212	0.853;0.654;0.853	P;B;P	0.49012	0.543;0.341;0.598	T	0.54193	-0.8330	10	0.62326	D	0.03	.	6.9017	0.24286	0.1049:0.5413:0.1066:0.2472	.	695;695;695	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	E	695	ENSP00000430584:D695E;ENSP00000367372:D695E;ENSP00000431748:D695E	ENSP00000367372:D695E	D	+	3	2	PCDHA2	140156818	0.000000	0.05858	0.161000	0.22692	0.620000	0.37586	-2.995000	0.00655	-0.961000	0.03609	-0.370000	0.07254	GAT	PCDHA2	-	NULL		0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	T	NM_018905		140176634	+1	no_errors	ENST00000526136	ensembl	human	known	70_37	missense	SNP	0.000	G
PCDHGA10	56106	genome.wustl.edu	37	5	140792799	140792799	+	Silent	SNP	G	G	A	rs374674787		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:140792799G>A	ENST00000398610.2	+	1	57	c.57G>A	c.(55-57)ctG>ctA	p.L19L	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	19					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGGTCCTGCTCTGCCTTT	0.512											OREG0016862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	,,,,,,,,,,,,,,,,	0,3778		0,0,1889	46.0	50.0	49.0		,,57,,,,,,,,,,,,,,57	2.7	0.3	5		49	2,8268		0,2,4133	no	intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_032088.1,NM_032090.1	,,,,,,,,,,,,,,,,	0,2,6022	AA,AG,GG		0.0242,0.0,0.0166	,,,,,,,,,,,,,,,,	,,19/937,,,,,,,,,,,,,,19/851	140792799	2,12046	1889	4135	6024	SO:0001819	synonymous_variant	56106				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.57G>A	5.37:g.140792799G>A		1659	Q9Y5E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L19	ENST00000398610.2	37	c.57	CCDS47292.1	5																																																																																			PCDHGA10	-	NULL		0.512	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	HGNC	protein_coding	OTTHUMT00000374747.1	G	NM_018913		140792799	+1	no_errors	ENST00000398610	ensembl	human	known	70_37	silent	SNP	0.709	A
PCNXL2	80003	genome.wustl.edu	37	1	233431150	233431150	+	Silent	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:233431150C>T	ENST00000258229.9	-	1	309	c.75G>A	c.(73-75)ccG>ccA	p.P25P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	25						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGCTCTGCTCCGGGTCGTGGT	0.706																																																	0													16.0	21.0	19.0					1																	233431150		2147	4205	6352	SO:0001819	synonymous_variant	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.75G>A	1.37:g.233431150C>T			O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.P25	ENST00000258229.9	37	c.75	CCDS44335.1	1																																																																																			PCNXL2	-	NULL		0.706	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	C	NM_014801		233431150	-1	no_errors	ENST00000258229	ensembl	human	known	70_37	silent	SNP	0.084	T
PDILT	204474	genome.wustl.edu	37	16	20371898	20371898	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:20371898C>T	ENST00000302451.4	-	11	1746	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	500					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACCTCATCCTCATCCTCAATC	0.443																																																	0													245.0	221.0	229.0					16																	20371898		2203	4300	6503	SO:0001583	missense	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1498G>A	16.37:g.20371898C>T	ENSP00000305465:p.Glu500Lys		Q8IVQ5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E500K	ENST00000302451.4	37	c.1498	CCDS10584.1	16	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688595	0.48097	.	.	ENSG00000169340	ENST00000302451	T	0.03242	4.0	4.58	3.63	0.41609	.	0.232512	0.43416	D	0.000568	T	0.02304	0.0071	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.47407	-0.9120	10	0.11182	T	0.66	.	8.8645	0.35278	0.0:0.9001:0.0:0.0999	.	500	Q8N807	PDILT_HUMAN	K	500	ENSP00000305465:E500K	ENSP00000305465:E500K	E	-	1	0	PDILT	20279399	0.012000	0.17670	0.043000	0.18650	0.654000	0.38779	0.424000	0.21330	1.530000	0.49136	0.650000	0.86243	GAG	PDILT	-	NULL		0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	C	NM_174924		20371898	-1	no_errors	ENST00000302451	ensembl	human	known	70_37	missense	SNP	0.052	T
PHLDA3	23612	genome.wustl.edu	37	1	201437540	201437540	+	Silent	SNP	G	G	C	rs201117567		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:201437540G>C	ENST00000367311.3	-	1	772	c.375C>G	c.(373-375)ctC>ctG	p.L125L	PHLDA3_ENST00000485436.1_5'UTR|PHLDA3_ENST00000367309.1_Silent_p.L125L	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	125	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						TTTAGGACACGAGGGTCCCGG	0.647																																																	0													54.0	62.0	59.0					1																	201437540		2203	4299	6502	SO:0001819	synonymous_variant	23612			AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.375C>G	1.37:g.201437540G>C			B2R5A4|Q53HD6|Q8NBW9	Silent	SNP	smart_Pleckstrin_homology	p.L125	ENST00000367311.3	37	c.375	CCDS1412.1	1																																																																																			PHLDA3	-	NULL		0.647	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	PHLDA3	HGNC	protein_coding	OTTHUMT00000087020.2	G	NM_012396		201437540	-1	no_errors	ENST00000367309	ensembl	human	known	70_37	silent	SNP	0.805	C
POGLUT1	56983	genome.wustl.edu	37	3	119204198	119204198	+	Missense_Mutation	SNP	A	A	G	rs142565532	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr3:119204198A>G	ENST00000295588.4	+	6	686	c.602A>G	c.(601-603)aAa>aGa	p.K201R		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	201					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TGGCCATGGAAAAAGAAAAAC	0.299																																																	0								A	ARG/LYS	1,4405		0,1,2202	103.0	113.0	109.0		602	3.0	1.0	3	dbSNP_134	109	34,8566	22.8+/-68.1	0,34,4266	yes	missense	POGLUT1	NM_152305.2	26	0,35,6468	GG,GA,AA		0.3953,0.0227,0.2691	benign	201/393	119204198	35,12971	2203	4300	6503	SO:0001583	missense	56983			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.602A>G	3.37:g.119204198A>G	ENSP00000295588:p.Lys201Arg		B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	pfam_LipoPS_modifying,smart_LipoPS_modifying	p.K201R	ENST00000295588.4	37	c.602	CCDS2988.1	3	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523665	0.44866	2.27E-4	0.003953	ENSG00000163389	ENST00000295588	T	0.23754	1.89	5.32	2.96	0.34315	.	0.286130	0.38217	N	0.001774	T	0.24547	0.0595	M	0.69823	2.125	0.31079	N	0.71219	B	0.02656	0.0	B	0.09377	0.004	T	0.17107	-1.0380	10	0.29301	T	0.29	-0.2322	6.9076	0.24317	0.8168:0.0:0.1832:0.0	.	201	Q8NBL1	PGLT1_HUMAN	R	201	ENSP00000295588:K201R	ENSP00000295588:K201R	K	+	2	0	POGLUT1	120686888	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	1.680000	0.37607	0.428000	0.26173	0.533000	0.62120	AAA	POGLUT1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying		0.299	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POGLUT1	HGNC	protein_coding	OTTHUMT00000355034.2	A	NM_152305		119204198	+1	no_errors	ENST00000295588	ensembl	human	known	70_37	missense	SNP	0.996	G
PSD2	84249	genome.wustl.edu	37	5	139201535	139201535	+	Silent	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:139201535C>T	ENST00000274710.3	+	6	1360	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	385	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGGTCCTCACACACTTCT	0.592																																																	0													153.0	118.0	130.0					5																	139201535		2203	4300	6503	SO:0001819	synonymous_variant	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1155C>T	5.37:g.139201535C>T			D3DQD3|Q8N3J8	Silent	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.L385	ENST00000274710.3	37	c.1155	CCDS4216.1	5																																																																																			PSD2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.592	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	C	NM_032289		139201535	+1	no_errors	ENST00000274710	ensembl	human	known	70_37	silent	SNP	0.000	T
PSME1	5720	genome.wustl.edu	37	14	24605456	24605457	+	5'UTR	INS	-	-	C	rs11432961	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr14:24605456_24605457insC	ENST00000206451.6	+	0	90_91				PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000382708.3_5'UTR|PSME1_ENST00000561435.1_5'UTR|PSME1_ENST00000470718.1_3'UTR	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GCGGCGCTAGGCCCCCCGTCCC	0.708													cccccc|CCCCCC|CCCCCCC|insertion	422	0.0842652	0.239	0.0533	5008	,	,		12167	0.0		0.0467	False		,,,				2504	0.0225																0									,	810,3282		118,574,1354					,	0.8	0.0		dbSNP_120	12	331,7671		30,271,3700	no	utr-5,utr-5	PSME1	NM_176783.1,NM_006263.2	,	148,845,5054	A1A1,A1R,RR		4.1365,19.7947,9.4344	,	,		1141,10953				SO:0001623	5_prime_UTR_variant	5720				CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.-15->C	14.37:g.24605462_24605462dupC			A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	RNA	INS	-	NULL	ENST00000206451.6	37	NULL	CCDS9612.1	14																																																																																			PSME1	-	-		0.708	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME1	HGNC	protein_coding	OTTHUMT00000071910.2	-	NM_006263		24605457	+1	no_errors	ENST00000470718	ensembl	human	known	70_37	rna	INS	0.000:0.001	C
PTEN	5728	genome.wustl.edu	37	10	89720811	89720812	+	Frame_Shift_Ins	INS	-	-	A	rs587783058|rs121913291		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr10:89720811_89720812insA	ENST00000371953.3	+	8	2319_2320	c.962_963insA	c.(961-966)acaaaafs	p.TK321fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	321	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T321fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTACTTTAACAAAAAATGATC	0.327	N323fs*2(MFE319_ENDOMETRIUM)|N323fs*2(RL952_ENDOMETRIUM)|N323fs*2(SKUT1_SOFT_TISSUE)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	73	Whole gene deletion(37)|Deletion - Frameshift(20)|Insertion - Frameshift(10)|Deletion - In frame(4)|Unknown(2)	endometrium(18)|prostate(16)|central_nervous_system(12)|skin(7)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|urinary_tract(2)|large_intestine(1)|stomach(1)|soft_tissue(1)|pancreas(1)																																								SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.968dupA	10.37:g.89720817_89720817dupA	ENSP00000361021:p.Thr321fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.N323fs	ENST00000371953.3	37	c.962_963	CCDS31238.1	10																																																																																			PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom		0.327	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	-	NM_000314		89720812	+1	no_errors	ENST00000371953	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
PTPRD	5789	genome.wustl.edu	37	9	8341196	8341196	+	Missense_Mutation	SNP	G	G	A	rs138775068		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:8341196G>A	ENST00000381196.4	-	38	5563	c.5020C>T	c.(5020-5022)Cgc>Tgc	p.R1674C	PTPRD_ENST00000397617.3_Missense_Mutation_p.R1267C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1674C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1674C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1264C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1264C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1661C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1652C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1268C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1267C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1267C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1674	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTAACAAGGCGATTTTTGAAT	0.388										TSP Lung(15;0.13)																																							0													189.0	203.0	198.0					9																	8341196		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5020C>T	9.37:g.8341196G>A	ENSP00000370593:p.Arg1674Cys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.R1674C	ENST00000381196.4	37	c.5020	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834189	0.91036	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.048867	0.85682	D	0.000000	T	0.80808	0.4694	H	0.99847	4.84	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.994;0.994;0.994;0.994;0.999;0.99;0.999;0.976;0.999	D	0.89092	0.3483	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1267;1258;1267;1268;1264;1264;1661;1674;1674	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	1674;1674;1661;1652;1268;1267;1264;1264;1145;1674;1267;1267	ENSP00000370593:R1674C;ENSP00000348812:R1674C;ENSP00000353187:R1661C;ENSP00000351293:R1652C;ENSP00000347373:R1268C;ENSP00000380741:R1267C;ENSP00000380735:R1264C;ENSP00000440515:R1264C;ENSP00000438164:R1674C;ENSP00000417093:R1267C;ENSP00000380731:R1267C	.	R	-	1	0	PTPRD	8331196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	CGC	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.388	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	G			8341196	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRT	11122	genome.wustl.edu	37	20	40735447	40735447	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr20:40735447C>A	ENST00000373187.1	-	24	3368	c.3369G>T	c.(3367-3369)agG>agT	p.R1123S	PTPRT_ENST00000373198.4_Missense_Mutation_p.R1142S|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1126S|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1133S|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1122S|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1113S|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1132S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1123	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCAGGTTGACCCTTTGGGCCC	0.557																																																	0													103.0	115.0	111.0					20																	40735447		2100	4225	6325	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3369G>T	20.37:g.40735447C>A	ENSP00000362283:p.Arg1123Ser		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R1145S	ENST00000373187.1	37	c.3435	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909672	0.72983	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.41	2.43	0.29744	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.89729	0.6799	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90670	0.4597	10	0.87932	D	0	.	10.2661	0.43455	0.0:0.7863:0.0:0.2137	.	1145;1123	O14522-1;O14522	.;PTPRT_HUMAN	S	1122;1123;1126;1132;1145;1133;1113	ENSP00000362286:R1122S;ENSP00000362283:R1123S;ENSP00000362289:R1126S;ENSP00000348408:R1132S;ENSP00000362294:R1145S;ENSP00000362280:R1133S;ENSP00000362297:R1113S	ENSP00000348408:R1132S	R	-	3	2	PTPRT	40168861	0.557000	0.26546	1.000000	0.80357	0.983000	0.72400	-0.165000	0.09968	0.782000	0.33613	0.591000	0.81541	AGG	PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			40735447	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	0.999	A
RAB13	5872	genome.wustl.edu	37	1	153954779	153954780	+	Intron	DEL	AC	AC	-	rs371625659|rs71584158|rs56853500|rs530111525|rs550367961	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:153954779_153954780delAC	ENST00000368575.3	-	7	650				RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family						cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATCAACACCAacacacacacac	0.45														1307	0.260982	0.2466	0.3156	5008	,	,		23862	0.2103		0.2356	False		,,,				2504	0.32				Ovarian(138;395 2427 24306 43415)												0																																										SO:0001627	intron_variant	5872			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.534+86GT>-	1.37:g.153954789_153954790delAC			A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	RNA	DEL	-	NULL	ENST00000368575.3	37	NULL	CCDS1058.1	1																																																																																			RAB13	-	-		0.450	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	HGNC	protein_coding	OTTHUMT00000088992.1	AC	NM_002870		153954780	-1	no_errors	ENST00000462680	ensembl	human	known	70_37	rna	DEL	0.000:0.001	-
RAMP2	10266	genome.wustl.edu	37	17	40914699	40914699	+	Silent	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:40914699C>T	ENST00000253796.5	+	4	425	c.357C>T	c.(355-357)atC>atT	p.I119I	RAMP2_ENST00000589683.1_Silent_p.I44I|RAMP2_ENST00000587142.1_Silent_p.I124I|RAMP2_ENST00000588576.1_Missense_Mutation_p.S83L|RAMP2-AS1_ENST00000592670.1_lincRNA	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	119					adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	CAGAGAGGATCATCTTTGAGA	0.562																																																	0													108.0	92.0	97.0					17																	40914699		2203	4300	6503	SO:0001819	synonymous_variant	10266			AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"""Receptor (G protein-coupled) activity modifying proteins"""	9844	protein-coding gene	gene with protein product		605154	"""receptor activity modifying protein 2"", ""receptor (calcitonin) activity modifying protein 2"""				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.357C>T	17.37:g.40914699C>T			A7L9S6|K7EMD3|Q8N1F2	Missense_Mutation	SNP	NULL	p.S83L	ENST00000253796.5	37	c.248	CCDS11437.1	17																																																																																			RAMP2	-	NULL		0.562	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAMP2	HGNC	protein_coding	OTTHUMT00000452380.1	C	NM_005854		40914699	+1	no_errors	ENST00000588576	ensembl	human	putative	70_37	missense	SNP	0.996	T
RCOR1	23186	genome.wustl.edu	37	14	103173771	103173771	+	Silent	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr14:103173771G>A	ENST00000570597.1	+	5	573	c.573G>A	c.(571-573)gaG>gaA	p.E191E	RCOR1_ENST00000262241.6_Silent_p.E194E			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	191	Interaction with HDAC1.|SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TCCCAGATGAGTGGACTGTGG	0.388																																																	0													132.0	135.0	134.0					14																	103173771		2203	4300	6503	SO:0001819	synonymous_variant	23186			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.573G>A	14.37:g.103173771G>A			Q15044|Q6P2I9|Q86VG5	Silent	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,prints_Antifreeze_1,pfscan_ELM2_dom	p.E194	ENST00000570597.1	37	c.582		14																																																																																			RCOR1	-	superfamily_Homeodomain-like,smart_SANT/Myb		0.388	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	RCOR1	HGNC	protein_coding		G	NM_015156		103173771	+1	no_errors	ENST00000262241	ensembl	human	known	70_37	silent	SNP	1.000	A
RHOBTB2	23221	genome.wustl.edu	37	8	22862930	22862930	+	Silent	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr8:22862930C>T	ENST00000251822.6	+	3	775	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000519685.1_Silent_p.L102L|RHOBTB2_ENST00000522948.1_Silent_p.L87L|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	80	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAGCGTCTCTCTGCGCCTCTG	0.602																																																	0													109.0	99.0	103.0					8																	22862930		2203	4300	6503	SO:0001819	synonymous_variant	23221			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.238C>T	8.37:g.22862930C>T			A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.L80	ENST00000251822.6	37	c.238	CCDS6034.1	8																																																																																			RHOBTB2	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase		0.602	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000215101.2	C			22862930	+1	no_errors	ENST00000251822	ensembl	human	known	70_37	silent	SNP	1.000	T
RHOJ	57381	genome.wustl.edu	37	14	63747800	63747800	+	Missense_Mutation	SNP	C	C	G	rs141927241	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr14:63747800C>G	ENST00000316754.3	+	3	811	c.349C>G	c.(349-351)Ccc>Gcc	p.P117A	RHOJ_ENST00000555125.1_Missense_Mutation_p.P117A	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	117					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GGAATGGGTCCCCGAGCTCAA	0.552																																																	0								C	ALA/PRO	1,4405	2.1+/-5.4	0,1,2202	168.0	124.0	139.0		349	5.9	1.0	14	dbSNP_134	139	8,8592	6.4+/-24.3	0,8,4292	yes	missense	RHOJ	NM_020663.3	27	0,9,6494	GG,GC,CC		0.093,0.0227,0.0692	possibly-damaging	117/215	63747800	9,12997	2203	4300	6503	SO:0001583	missense	57381			AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.349C>G	14.37:g.63747800C>G	ENSP00000316729:p.Pro117Ala		Q96KC1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P117A	ENST00000316754.3	37	c.349	CCDS9757.1	14	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921273	0.73213	2.27E-4	9.3E-4	ENSG00000126785	ENST00000316754;ENST00000555125	T;T	0.75938	-0.98;-0.98	5.87	5.87	0.94306	Small GTP-binding protein domain (1);	0.059385	0.64402	D	0.000002	T	0.74703	0.3751	M	0.79926	2.475	0.80722	D	1	P	0.41848	0.763	B	0.37015	0.239	T	0.79463	-0.1793	10	0.87932	D	0	.	13.4156	0.60966	0.0:0.9286:0.0:0.0714	.	117	Q9H4E5	RHOJ_HUMAN	A	117	ENSP00000316729:P117A;ENSP00000451643:P117A	ENSP00000316729:P117A	P	+	1	0	RHOJ	62817553	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	6.091000	0.71406	2.785000	0.95823	0.591000	0.81541	CCC	RHOJ	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.552	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOJ	HGNC	protein_coding	OTTHUMT00000276975.3	C			63747800	+1	no_errors	ENST00000316754	ensembl	human	known	70_37	missense	SNP	0.999	G
SCMH1	22955	genome.wustl.edu	37	1	41651896	41651896	+	5'UTR	SNP	A	A	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:41651896A>C	ENST00000372596.1	-	0	84				SCMH1_ENST00000372597.1_5'UTR|SCMH1_ENST00000337495.5_5'UTR	NM_001172218.1	NP_001165689.1			sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ctgacaagtcagtttctttgt	0.393																																																	0																																										SO:0001623	5_prime_UTR_variant	22955			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000372596.1:c.-513T>G	1.37:g.41651896A>C				RNA	SNP	-	NULL	ENST00000372596.1	37	NULL	CCDS53301.1	1																																																																																			SCMH1	-	-		0.393	SCMH1-002	KNOWN	basic|CCDS	protein_coding	SCMH1	HGNC	protein_coding	OTTHUMT00000015653.1	A			41651896	-1	no_errors	ENST00000488592	ensembl	human	known	70_37	rna	SNP	0.977	C
SERPINA3	12	genome.wustl.edu	37	14	95081252	95081252	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr14:95081252G>C	ENST00000467132.1	+	2	1622	c.474G>C	c.(472-474)aaG>aaC	p.K158N	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.K158N|SERPINA3_ENST00000482740.1_5'Flank|SERPINA3_ENST00000393080.4_Missense_Mutation_p.K158N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	158					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGGATGCCAAGAGGCTGTATG	0.517																																																	0													75.0	69.0	71.0					14																	95081252		2203	4300	6503	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.474G>C	14.37:g.95081252G>C	ENSP00000450540:p.Lys158Asn		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.K183N	ENST00000467132.1	37	c.549	CCDS32150.1	14	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732633	0.48939	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.13	0.902	0.19290	Serpin domain (3);	2.232540	0.02321	N	0.073000	D	0.89413	0.6708	M	0.63208	1.945	0.09310	N	1	P;P	0.52061	0.95;0.489	P;B	0.62298	0.9;0.213	T	0.71427	-0.4596	10	0.87932	D	0	.	3.7649	0.08619	0.3059:0.3912:0.3029:0.0	.	158;183	P01011;G3V5I3	AACT_HUMAN;.	N	183;158;158;158;158	ENSP00000452367:K183N;ENSP00000376793:K158N;ENSP00000376795:K158N;ENSP00000450540:K158N	ENSP00000376793:K158N	K	+	3	2	SERPINA3	94151005	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.688000	0.25422	0.625000	0.30304	0.561000	0.74099	AAG	SERPINA3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.517	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	HGNC	protein_coding	OTTHUMT00000268080.3	G	NM_001085		95081252	+1	no_errors	ENST00000553947	ensembl	human	known	70_37	missense	SNP	0.000	C
SLC7A2	6542	genome.wustl.edu	37	8	17396334	17396334	+	Intron	SNP	A	A	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr8:17396334A>G	ENST00000494857.1	+	3	196				SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000470360.1_Start_Codon_SNP_p.M1V|SLC7A2_ENST00000004531.10_Start_Codon_SNP_p.M1V|SLC7A2_ENST00000398090.3_Start_Codon_SNP_p.M1V	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCAACTGGAATGAAGATAGA	0.398																																																	0													81.0	77.0	78.0					8																	17396334		1874	4106	5980	SO:0001627	intron_variant	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.-22-4493A>G	8.37:g.17396334A>G			B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	pfam_AA-permease_dom,tigrfam_Cat_AA_permease	p.M1V	ENST00000494857.1	37	c.1	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	A	8.466	0.856349	0.17106	.	.	ENSG00000003989	ENST00000470360;ENST00000004531;ENST00000398090	D;D;D	0.87179	-2.22;-2.08;-2.22	3.46	1.03	0.20045	.	.	.	.	.	T	0.78935	0.4362	.	.	.	0.23346	N	0.997863	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.67875	-0.5557	8	0.87932	D	0	.	5.3376	0.15967	0.756:0.0:0.244:0.0	.	1;1	P52569-3;P52569-2	.;.	V	1	ENSP00000419873:M1V;ENSP00000004531:M1V;ENSP00000381164:M1V	ENSP00000004531:M1V	M	+	1	0	SLC7A2	17440713	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	0.021000	0.13489	0.218000	0.20820	-0.609000	0.04063	ATG	SLC7A2	-	NULL		0.398	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	HGNC	protein_coding	OTTHUMT00000253367.3	A	NM_003046		17396334	+1	no_errors	ENST00000004531	ensembl	human	known	70_37	missense	SNP	0.001	G
SLFN13	146857	genome.wustl.edu	37	17	33768937	33768937	+	Missense_Mutation	SNP	C	C	T	rs114866073	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:33768937C>T	ENST00000285013.6	-	5	1842	c.1567G>A	c.(1567-1569)Gca>Aca	p.A523T	SLFN13_ENST00000542635.1_Missense_Mutation_p.A523T|SLFN13_ENST00000534689.1_Missense_Mutation_p.A205T|SLFN13_ENST00000526861.1_Missense_Mutation_p.A523T|SLFN13_ENST00000533791.1_Missense_Mutation_p.A523T|SLFN13_ENST00000360502.2_Missense_Mutation_p.A205T	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	523						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGGCCTCTGCGCTGCTCTCA	0.592																																																	0													15.0	14.0	14.0					17																	33768937		2200	4272	6472	SO:0001583	missense	146857			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1567G>A	17.37:g.33768937C>T	ENSP00000285013:p.Ala523Thr		E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.A523T	ENST00000285013.6	37	c.1567	CCDS32620.1	17	511	0.23397435897435898	153	0.31097560975609756	97	0.26795580110497236	158	0.2762237762237762	103	0.1358839050131926	t	3.896	-0.022924	0.07634	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	T;T;T;T;T	0.03441	4.52;3.93;4.52;4.52;3.93	2.49	-4.45	0.03546	.	1.478210	0.04431	N	0.369240	T	0.00012	0.0000	N	0.25890	0.77	0.80722	P	0.0	B;B	0.24533	0.038;0.105	B;B	0.16722	0.016;0.006	T	0.48490	-0.9031	9	0.17369	T	0.5	.	4.1525	0.10245	0.0:0.3414:0.1819:0.4767	.	205;523	Q68D06-2;Q68D06	.;SLN13_HUMAN	T	523;205;523;523;205	ENSP00000285013:A523T;ENSP00000353692:A205T;ENSP00000434439:A523T;ENSP00000444016:A523T;ENSP00000435442:A205T	ENSP00000285013:A523T	A	-	1	0	SLFN13	30793050	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-2.966000	0.00670	-0.874000	0.04027	-2.696000	0.00138	GCA	SLFN13	-	NULL		0.592	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	C	NM_144682		33768937	-1	no_errors	ENST00000285013	ensembl	human	known	70_37	missense	SNP	0.000	T
SNUPN	10073	genome.wustl.edu	37	15	75897569	75897569	+	Splice_Site	SNP	C	C	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr15:75897569C>G	ENST00000564644.1	-	8	1179		c.e8-1		SNUPN_ENST00000564675.1_Splice_Site|SNUPN_ENST00000567134.1_Splice_Site|SNUPN_ENST00000371091.5_Splice_Site|SNUPN_ENST00000308588.5_Splice_Site			O95149	SPN1_HUMAN	snurportin 1						gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GGAAATCAGTCTGCCACAGAG	0.363																																																	0													107.0	101.0	103.0					15																	75897569		2197	4294	6491	SO:0001630	splice_region_variant	10073			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.601-1G>C	15.37:g.75897569C>G			A6NE34|A8K0B0|D3DW76	Splice_Site	SNP	-	e7-1	ENST00000564644.1	37	c.727-1	CCDS10281.1	15	.	.	.	.	.	.	.	.	.	.	-	14.71	2.618104	0.46736	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5802	0.45250	0.0:0.8042:0.1958:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNUPN	73684624	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.939000	0.75911	2.425000	0.82216	0.531000	0.56144	.	SNUPN	-	-		0.363	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNUPN	HGNC	protein_coding	OTTHUMT00000420332.1	C	NM_005701	Intron	75897569	-1	no_errors	ENST00000371091	ensembl	human	known	70_37	splice_site	SNP	1.000	G
SPAG9	9043	genome.wustl.edu	37	17	49053251	49053251	+	Intron	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:49053251G>A	ENST00000262013.7	-	28	3732				SPAG9_ENST00000510283.1_Missense_Mutation_p.H1022Y|SPAG9_ENST00000505279.1_Intron|SPAG9_ENST00000357122.4_Intron	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9						activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CGTCCCTGGTGGAGGATTACG	0.507																																																	0																																										SO:0001627	intron_variant	9043			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3524-943C>T	17.37:g.49053251G>A			A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.H1022Y	ENST00000262013.7	37	c.3064	CCDS45740.1	17	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066122	0.76187	.	.	ENSG00000008294	ENST00000510283	T	0.24151	1.87	5.55	5.55	0.83447	.	.	.	.	.	T	0.31482	0.0798	.	.	.	0.80722	D	1	D	0.56968	0.978	P	0.56216	0.794	T	0.01232	-1.1411	8	0.02654	T	1	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	1022	E7ENU2	.	Y	1022	ENSP00000423165:H1022Y	ENSP00000423165:H1022Y	H	-	1	0	SPAG9	46408250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.880000	0.92407	2.894000	0.99253	0.591000	0.81541	CAC	SPAG9	-	NULL		0.507	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	G	NM_003971		49053251	-1	no_errors	ENST00000510283	ensembl	human	putative	70_37	missense	SNP	1.000	A
SPATA17	128153	genome.wustl.edu	37	1	217824495	217824495	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:217824495G>A	ENST00000366933.4	+	3	270	c.215G>A	c.(214-216)aGa>aAa	p.R72K		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	72	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTCTTAGGCAGAAAGCAATAT	0.289																																																	0													83.0	93.0	89.0					1																	217824495		2203	4290	6493	SO:0001583	missense	128153			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.215G>A	1.37:g.217824495G>A	ENSP00000355900:p.Arg72Lys		A5D6N2	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R72K	ENST00000366933.4	37	c.215	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973325	0.74246	.	.	ENSG00000162814	ENST00000366933	T	0.63913	-0.07	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.78317	0.4264	M	0.75447	2.3	0.39035	D	0.960018	D	0.89917	1.0	D	0.91635	0.999	T	0.81457	-0.0924	10	0.56958	D	0.05	-14.4651	15.1735	0.72894	0.0:0.0:1.0:0.0	.	72	Q96L03	SPT17_HUMAN	K	72	ENSP00000355900:R72K	ENSP00000355900:R72K	R	+	2	0	SPATA17	215891118	1.000000	0.71417	0.997000	0.53966	0.614000	0.37383	3.702000	0.54800	2.427000	0.82271	0.650000	0.86243	AGA	SPATA17	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.289	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	HGNC	protein_coding	OTTHUMT00000092433.2	G	NM_138796		217824495	+1	no_errors	ENST00000366933	ensembl	human	known	70_37	missense	SNP	1.000	A
SPINK5	11005	genome.wustl.edu	37	5	147486700	147486700	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:147486700A>G	ENST00000256084.7	+	17	1622	c.1580A>G	c.(1579-1581)aAc>aGc	p.N527S	SPINK5_ENST00000359874.3_Missense_Mutation_p.N527S|SPINK5_ENST00000398454.1_Missense_Mutation_p.N527S	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	527	Kazal-like 8. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCATGGAAACAAGTGTGCC	0.498																																																	0													179.0	176.0	177.0					5																	147486700		2053	4194	6247	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1580A>G	5.37:g.147486700A>G	ENSP00000256084:p.Asn527Ser		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	p.N527S	ENST00000256084.7	37	c.1580	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	A	18.16	3.562452	0.65538	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	4.81	4.81	0.61882	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.52532	D	0.000075	T	0.25195	0.0612	M	0.85099	2.735	0.27609	N	0.948733	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	D;D;D;D	0.76575	0.988;0.971;0.983;0.971	T	0.07424	-1.0773	10	0.39692	T	0.17	-28.1027	10.9434	0.47287	1.0:0.0:0.0:0.0	.	508;527;527;527	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	S	527;527;508;527	ENSP00000381472:N527S;ENSP00000352936:N527S;ENSP00000421519:N508S;ENSP00000256084:N527S	ENSP00000256084:N527S	N	+	2	0	SPINK5	147466893	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	2.984000	0.49353	2.164000	0.68074	0.459000	0.35465	AAC	SPINK5	-	pfam_Kazal-type_dom,smart_Prot_inh_Kazal		0.498	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	A	NM_001127698		147486700	+1	no_errors	ENST00000359874	ensembl	human	known	70_37	missense	SNP	1.000	G
SRSF12	135295	genome.wustl.edu	37	6	89808634	89808634	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr6:89808634G>C	ENST00000452027.2	-	5	642	c.449C>G	c.(448-450)tCt>tGt	p.S150C		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	150	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ACGAGATTTAGACTGGCTATA	0.418																																																	0													159.0	152.0	154.0					6																	89808634		1861	4094	5955	SO:0001583	missense	135295			AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.449C>G	6.37:g.89808634G>C	ENSP00000414302:p.Ser150Cys		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S150C	ENST00000452027.2	37	c.449	CCDS47459.1	6	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526537	0.64860	.	.	ENSG00000154548	ENST00000452027	T	0.10668	2.85	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000005	T	0.18593	0.0446	L	0.44542	1.39	0.42452	D	0.992755	D	0.76494	0.999	D	0.74674	0.984	T	0.00589	-1.1656	10	0.62326	D	0.03	.	17.3944	0.87441	0.0:0.0:1.0:0.0	.	150	Q8WXF0	SRS12_HUMAN	C	150	ENSP00000414302:S150C	ENSP00000414302:S150C	S	-	2	0	SRSF12	89865353	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.836000	0.55813	2.719000	0.93026	0.585000	0.79938	TCT	SRSF12	-	NULL		0.418	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SRSF12	HGNC	protein_coding	OTTHUMT00000041474.2	G	NM_080743		89808634	-1	no_errors	ENST00000452027	ensembl	human	known	70_37	missense	SNP	1.000	C
STAT3	6774	genome.wustl.edu	37	17	40500481	40500481	+	Silent	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:40500481G>C	ENST00000264657.5	-	2	366	c.54C>G	c.(52-54)ctC>ctG	p.L18L	STAT3_ENST00000588969.1_Silent_p.L18L|STAT3_ENST00000404395.3_Silent_p.L18L|STAT3_ENST00000389272.3_Intron|STAT3_ENST00000585517.1_Silent_p.L18L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	18					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AGAGCTGATGGAGCTGCTCCA	0.502									Hyperimmunoglobulin E Recurrent Infection Syndrome																																								0													103.0	96.0	98.0					17																	40500481		2203	4300	6503	SO:0001819	synonymous_variant	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.54C>G	17.37:g.40500481G>C			A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.L18	ENST00000264657.5	37	c.54	CCDS32656.1	17																																																																																			STAT3	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction		0.502	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	G	NM_139276, NM_003150		40500481	-1	no_errors	ENST00000264657	ensembl	human	known	70_37	silent	SNP	0.010	C
THUMPD1	55623	genome.wustl.edu	37	16	20752961	20752961	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:20752961C>A	ENST00000381337.2	-	1	445	c.101G>T	c.(100-102)gGc>gTc	p.G34V	AC004381.7_ENST00000565498.1_RNA|THUMPD1_ENST00000431224.2_Missense_Mutation_p.G120V|THUMPD1_ENST00000396083.2_Missense_Mutation_p.G34V	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	34							poly(A) RNA binding (GO:0044822)			NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						ACGGGGCCCGCCAGCGTCGCA	0.657																																																	0													12.0	12.0	12.0					16																	20752961		2192	4289	6481	SO:0001583	missense	55623			BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.101G>T	16.37:g.20752961C>A	ENSP00000370741:p.Gly34Val		Q9BWC3	Missense_Mutation	SNP	pfam_THUMP,smart_THUMP,pfscan_THUMP	p.G120V	ENST00000381337.2	37	c.359	CCDS10588.1	16	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111330	0.77210	.	.	ENSG00000066654	ENST00000381337;ENST00000431224;ENST00000396083	T;T;T	0.49139	0.82;0.79;0.82	5.63	4.67	0.58626	.	0.116646	0.37809	N	0.001925	T	0.39253	0.1071	L	0.44542	1.39	0.58432	D	0.999999	P	0.42785	0.79	B	0.40782	0.34	T	0.17992	-1.0351	10	0.35671	T	0.21	.	9.4619	0.38789	0.0:0.7771:0.1452:0.0777	.	34	Q9NXG2	THUM1_HUMAN	V	34;120;34	ENSP00000370741:G34V;ENSP00000392282:G120V;ENSP00000379392:G34V	ENSP00000370741:G34V	G	-	2	0	THUMPD1	20660462	0.040000	0.19996	0.996000	0.52242	0.996000	0.88848	0.276000	0.18716	1.355000	0.45865	0.637000	0.83480	GGC	THUMPD1	-	NULL		0.657	THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THUMPD1	HGNC	protein_coding	OTTHUMT00000254420.1	C	NM_017736		20752961	-1	no_errors	ENST00000431224	ensembl	human	known	70_37	missense	SNP	1.000	A
TMC1	117531	genome.wustl.edu	37	9	75387407	75387407	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:75387407C>A	ENST00000297784.5	+	13	1360	c.820C>A	c.(820-822)Ccg>Acg	p.P274T	TMC1_ENST00000396237.3_Missense_Mutation_p.P274T|TMC1_ENST00000340019.3_Missense_Mutation_p.P274T	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	274					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTTCAGGTTGCCGCTCTCCTA	0.388																																					Pancreas(75;173 1345 14232 34245 43413)												0													221.0	216.0	218.0					9																	75387407		2203	4300	6503	SO:0001583	missense	117531			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.820C>A	9.37:g.75387407C>A	ENSP00000297784:p.Pro274Thr		A8MVZ2|B1AM91	Missense_Mutation	SNP	pfam_TMC	p.P274T	ENST00000297784.5	37	c.820	CCDS6643.1	9	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772796	0.90108	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.62364	0.03;0.03;0.03	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	M	0.91818	3.245	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72982	0.971;0.971;0.979	D	0.87018	0.2127	10	0.87932	D	0	-13.4946	19.5228	0.95192	0.0:1.0:0.0:0.0	.	241;241;274	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	T	274;274;241;241;241;268;274	ENSP00000297784:P274T;ENSP00000341433:P274T;ENSP00000379538:P274T	ENSP00000297784:P274T	P	+	1	0	TMC1	74577227	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.115000	0.77110	2.770000	0.95276	0.650000	0.86243	CCG	TMC1	-	NULL		0.388	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC1	HGNC	protein_coding	OTTHUMT00000052655.1	C			75387407	+1	no_errors	ENST00000297784	ensembl	human	known	70_37	missense	SNP	1.000	A
TMC2	117532	genome.wustl.edu	37	20	2539295	2539295	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr20:2539295G>C	ENST00000358864.1	+	3	291	c.276G>C	c.(274-276)gaG>gaC	p.E92D		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	92	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCGAGGCAGAGAGGACCTGCG	0.677																																																	0													24.0	25.0	24.0					20																	2539295		2190	4289	6479	SO:0001583	missense	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.276G>C	20.37:g.2539295G>C	ENSP00000351732:p.Glu92Asp		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.E92D	ENST00000358864.1	37	c.276	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	g	10.06	1.245736	0.22796	.	.	ENSG00000149488	ENST00000358864	T	0.50548	0.74	4.29	-0.12	0.13539	.	0.894418	0.09648	N	0.774014	T	0.38931	0.1059	L	0.59436	1.845	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31024	-0.9958	10	0.32370	T	0.25	-3.2075	5.2672	0.15605	0.1984:0.3549:0.4467:0.0	.	92;92	Q8TDI7-3;Q8TDI7	.;TMC2_HUMAN	D	92	ENSP00000351732:E92D	ENSP00000351732:E92D	E	+	3	2	TMC2	2487295	0.016000	0.18221	0.007000	0.13788	0.005000	0.04900	0.445000	0.21677	-0.073000	0.12842	-0.323000	0.08544	GAG	TMC2	-	NULL		0.677	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	G			2539295	+1	no_errors	ENST00000358864	ensembl	human	known	70_37	missense	SNP	0.041	C
TMEM235	283999	genome.wustl.edu	37	17	76235162	76235162	+	Missense_Mutation	SNP	C	C	T	rs200061211	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:76235162C>T	ENST00000551068.3	+	4	588	c.467C>T	c.(466-468)gCg>gTg	p.A156V	TMEM235_ENST00000421688.1_Silent_p.C266C|TMEM235_ENST00000550981.3_Missense_Mutation_p.A129V|TMEM235_ENST00000374946.3_Missense_Mutation_p.A129V|TMEM235_ENST00000586400.1_Missense_Mutation_p.A83V			A6NFC5	TM235_HUMAN	transmembrane protein 235	156						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			lung(1)	1						CTGGCCTTTGCGGAGACGGTG	0.657													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18214	0.0		0.001	False		,,,				2504	0.0																0								C	VAL/ALA,VAL/ALA,VAL/ALA	1,1383		0,1,691	41.0	45.0	44.0		467,386,248	-4.1	0.0	17		44	2,3180		0,2,1589	yes	missense,missense,missense	TMEM235	NM_001204210.1,NM_001204211.1,NM_001204212.1	64,64,64	0,3,2280	TT,TC,CC		0.0629,0.0723,0.0657	,,	156/224,129/197,83/151	76235162	3,4563	692	1591	2283	SO:0001583	missense	283999			BC042066	CCDS56048.1, CCDS56046.1, CCDS56047.1	17q25.3	2011-02-18	2011-02-18	2011-02-18	ENSG00000204278	ENSG00000204278			27563	protein-coding gene	gene with protein product							Standard	NM_001204210		Approved		uc002jvk.3	A6NFC5		ENST00000551068.3:c.467C>T	17.37:g.76235162C>T	ENSP00000446514:p.Ala156Val		C9JRE6	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.A156V	ENST00000551068.3	37	c.467	CCDS56046.1	17	.	.	.	.	.	.	.	.	.	.	C	3.121	-0.180471	0.06380	7.23E-4	6.29E-4	ENSG00000204278	ENST00000543327;ENST00000374946;ENST00000551068;ENST00000550981	T;T;T	0.68903	-0.36;-0.36;-0.36	2.51	-4.13	0.03904	.	1.901430	0.02873	N	0.131958	T	0.50769	0.1635	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.28522	-1.0041	8	0.30078	T	0.28	.	3.8292	0.08867	0.1651:0.3509:0.0:0.484	.	.	.	.	V	83;129;156;129	ENSP00000364084:A129V;ENSP00000446514:A156V;ENSP00000447766:A129V	ENSP00000364084:A129V	A	+	2	0	TMEM235	73746757	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.962000	0.01514	-0.991000	0.03476	-1.449000	0.01048	GCG	TMEM235	-	pfam_PMP22/EMP/MP20/Claudin		0.657	TMEM235-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM235	HGNC	protein_coding	OTTHUMT00000408606.1	C	NM_001204211		76235162	+1	no_errors	ENST00000551068	ensembl	human	known	70_37	missense	SNP	0.018	T
TMEM8C	389827	genome.wustl.edu	37	9	136385318	136385318	+	Silent	SNP	C	C	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr9:136385318C>G	ENST00000339996.3	-	2	329	c.228G>C	c.(226-228)ctG>ctC	p.L76L	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	76					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						CCCACATGCTCAGGGCTGTCC	0.597																																																	0													117.0	97.0	103.0					9																	136385318		2203	4300	6503	SO:0001819	synonymous_variant	389827			BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.228G>C	9.37:g.136385318C>G				Silent	SNP	pfam_DUF3522	p.L76	ENST00000339996.3	37	c.228	CCDS35170.1	9																																																																																			TMEM8C	-	pfam_DUF3522		0.597	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8C	HGNC	protein_coding	OTTHUMT00000356200.2	C	NM_001080483		136385318	-1	no_errors	ENST00000339996	ensembl	human	known	70_37	silent	SNP	0.998	G
CACNA1H	8912	genome.wustl.edu	37	16	1274609	1274609	+	IGR	SNP	C	C	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr16:1274609C>A	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.L22F|TPSB2_ENST00000339687.6_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TACCTGGCTGCAAAGTCCTGA	0.672																																																	0													84.0	81.0	82.0					16																	1274609		2199	4300	6499	SO:0001628	intergenic_variant	25823			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1274609C>A			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L22F	ENST00000348261.5	37	c.66	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	C	2.282	-0.364504	0.05103	.	.	ENSG00000116176	ENST00000234798	D	0.93547	-3.24	1.83	-2.13	0.07144	.	.	.	.	.	T	0.80358	0.4608	N	0.19112	0.55	0.09310	N	1	P	0.50617	0.937	B	0.39706	0.307	T	0.76013	-0.3114	9	0.09338	T	0.73	.	0.4211	0.00456	0.2495:0.3085:0.2477:0.1943	.	22	Q9NRR2	TRYG1_HUMAN	F	22	ENSP00000234798:L22F	ENSP00000234798:L22F	L	-	3	2	TPSG1	1214610	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-1.929000	0.01558	-0.558000	0.06118	0.491000	0.48974	TTG	TPSG1	-	NULL		0.672	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	TPSG1	HGNC	protein_coding	OTTHUMT00000421601.1	C	NM_001005407		1274609	-1	no_errors	ENST00000234798	ensembl	human	known	70_37	missense	SNP	0.010	A
AC005013.5	0	genome.wustl.edu	37	7	28995817	28995817	+	lincRNA	SNP	C	C	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr7:28995817C>G	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							CGCGCGCCGCCCAGCGGCCGG	0.692																																																	0													5.0	5.0	5.0					7																	28995817		1813	3881	5694			9865																															7.37:g.28995817C>G				RNA	SNP	-	NULL	ENST00000436594.1	37	NULL		7																																																																																			TRIL	-	-		0.692	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	TRIL	HGNC	lincRNA	OTTHUMT00000327953.3	C			28995817	-1	no_errors	ENST00000322982	ensembl	human	known	70_37	rna	SNP	1.000	G
TRIO	7204	genome.wustl.edu	37	5	14420638	14420639	+	Intron	INS	-	-	T	rs146991451	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr5:14420638_14420639insT	ENST00000344204.4	+	34	5227				TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AACAGGAAGAATTAGGCTGTTG	0.431													TT|TT|TTT|insertion	39	0.00778754	0.003	0.0086	5008	,	,		20680	0.0		0.0249	False		,,,				2504	0.0041																0																																										SO:0001627	intron_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5203+508->T	5.37:g.14420640_14420640dupT			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	RNA	INS	-	NULL	ENST00000344204.4	37	NULL	CCDS3883.1	5																																																																																			TRIO	-	-		0.431	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	-	NM_007118		14420639	+1	no_errors	ENST00000507714	ensembl	human	known	70_37	rna	INS	0.067:0.013	T
TRMT44	152992	genome.wustl.edu	37	4	8469962	8469962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr4:8469962C>T	ENST00000389737.4	+	9	1816	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	TRMT44_ENST00000513449.2_Nonsense_Mutation_p.R365*	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	606					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CGCCCTGCCACGAGATTTTAT	0.502																																																	0													57.0	60.0	59.0					4																	8469962		2203	4300	6503	SO:0001587	stop_gained	152992			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1816C>T	4.37:g.8469962C>T	ENSP00000374387:p.Arg606*		Q8NA95	Nonsense_Mutation	SNP	pfam_tRNA_uracil_MeTrfase	p.R606*	ENST00000389737.4	37	c.1816	CCDS3402.2	4	.	.	.	.	.	.	.	.	.	.	C	31	5.103552	0.94245	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	.	.	.	4.83	3.07	0.35406	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6602	12.7131	0.57100	0.4325:0.5675:0.0:0.0	.	.	.	.	X	365;606;214	.	ENSP00000285635:R214X	R	+	1	2	METTL19	8520862	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	2.110000	0.41873	0.611000	0.30052	-0.310000	0.09108	CGA	TRMT44	-	NULL		0.502	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRMT44	HGNC	protein_coding	OTTHUMT00000359197.2	C	NM_152544		8469962	+1	no_errors	ENST00000389737	ensembl	human	known	70_37	nonsense	SNP	0.723	T
TRPM1	4308	genome.wustl.edu	37	15	31324907	31324907	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr15:31324907C>T	ENST00000256552.6	-	22	3084	c.2937G>A	c.(2935-2937)atG>atA	p.M979I	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.M957I|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.M996I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.M957I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCCAATCATCATCACGTATG	0.488																																																	1	Substitution - Missense(1)	breast(1)											112.0	106.0	108.0					15																	31324907		1988	4181	6169	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2937G>A	15.37:g.31324907C>T	ENSP00000256552:p.Met979Ile			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.M996I	ENST00000256552.6	37	c.2988	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776123	0.90195	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.74947	-0.89;-0.89;-0.89	5.43	5.43	0.79202	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	N	0.10837	0.055	0.58432	D	0.999999	P;B	0.41929	0.765;0.27	B;B	0.40825	0.341;0.18	T	0.70680	-0.4805	10	0.87932	D	0	-41.7833	19.6018	0.95566	0.0:1.0:0.0:0.0	.	951;957	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	957;996;979;957	ENSP00000380897:M957I;ENSP00000437849:M996I;ENSP00000256552:M979I	ENSP00000256552:M979I	M	-	3	0	TRPM1	29112199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.704000	0.92352	0.643000	0.83706	ATG	TRPM1	-	pfam_Ion_trans_dom		0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	C	NM_002420		31324907	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	1.000	T
TRPM7	54822	genome.wustl.edu	37	15	50868017	50868017	+	Intron	SNP	T	T	A			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr15:50868017T>A	ENST00000313478.7	-	33	4951				TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Intron	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7						actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AATAATTAAATCTGTAAAGGT	0.333																																																	0													57.0	55.0	55.0					15																	50868017		1798	4048	5846	SO:0001627	intron_variant	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4670-31A>T	15.37:g.50868017T>A			Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	RNA	SNP	-	NULL	ENST00000313478.7	37	NULL	CCDS42035.1	15																																																																																			TRPM7	-	-		0.333	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	T	NM_017672		50868017	-1	no_errors	ENST00000560849	ensembl	human	known	70_37	rna	SNP	0.000	A
TRPS1	7227	genome.wustl.edu	37	8	116430592	116430592	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr8:116430592C>T	ENST00000220888.5	-	5	2909	c.2750G>A	c.(2749-2751)tGc>tAc	p.C917Y	TRPS1_ENST00000520276.1_Missense_Mutation_p.C921Y|TRPS1_ENST00000519076.1_Missense_Mutation_p.C671Y|TRPS1_ENST00000395715.3_Missense_Mutation_p.C930Y			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	917					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACACGCGTTGCATACATATCC	0.498									Langer-Giedion syndrome																																								0													136.0	137.0	137.0					8																	116430592		1984	4172	6156	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2750G>A	8.37:g.116430592C>T	ENSP00000220888:p.Cys917Tyr		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.C930Y	ENST00000220888.5	37	c.2789		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.688377|3.688377	0.68271|0.68271	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.99985|.	-12.07;-12.07;-12.07;-12.07|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.92561|0.92561	0.7637|0.7637	H|H	0.99789|0.99789	4.78|4.78	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.998|.	D|D	0.95618|0.95618	0.8678|0.8678	10|5	0.87932|.	D|.	0|.	.|.	20.0805|20.0805	0.97772|0.97772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	921;917;930|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	Y|I	930;917;671;921|41	ENSP00000379065:C930Y;ENSP00000220888:C917Y;ENSP00000428910:C671Y;ENSP00000428680:C921Y|.	ENSP00000220888:C917Y|.	C|M	-|-	2|3	0|0	TRPS1|TRPS1	116499768|116499768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	TGC|ATG	TRPS1	-	pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA		0.498	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	C	NM_014112		116430592	-1	no_errors	ENST00000395715	ensembl	human	known	70_37	missense	SNP	1.000	T
ULK4P2	100288380	genome.wustl.edu	37	15	30888946	30888946	+	RNA	SNP	T	T	A	rs71478486	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr15:30888946T>A	ENST00000569682.1	+	0	252									ULK4 pseudogene 2																		GTTGAGGTAATGTCTTTTATG	0.403													t|||	1784	0.35623	0.5741	0.3357	5008	,	,		18580	0.1498		0.339	False		,,,				2504	0.3067																0																																												100288380					15q13.2	2013-09-12	2013-09-12	2011-11-25	ENSG00000260128	ENSG00000260128			15776	pseudogene	pseudogene			"""family with sequence similarity 7, member A2"", ""unc-51-like kinase 4 (C. elegans) pseudogene 2"""	FAM7A2		11829490	Standard	NR_027470		Approved	D-X			OTTHUMG00000175653		15.37:g.30888946T>A				RNA	SNP	-	NULL	ENST00000569682.1	37	NULL		15																																																																																			ULK4P2	-	-		0.403	ULK4P2-002	PUTATIVE	basic	processed_transcript	ULK4P2	HGNC	pseudogene	OTTHUMT00000430722.1	T			30888946	+1	no_errors	ENST00000566793	ensembl	human	putative	70_37	rna	SNP	0.164	A
UNC45B	146862	genome.wustl.edu	37	17	33496889	33496889	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr17:33496889G>T	ENST00000268876.5	+	11	1583	c.1486G>T	c.(1486-1488)Gac>Tac	p.D496Y	UNC45B_ENST00000378449.1_Intron|UNC45B_ENST00000394570.2_Missense_Mutation_p.D496Y|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.D496Y|UNC45B_ENST00000591048.1_Intron	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	496			D -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.D496H(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGTGGCACAGACTACGGTCT	0.562																																																	1	Substitution - Missense(1)	breast(1)											84.0	74.0	77.0					17																	33496889		2203	4300	6503	SO:0001583	missense	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1486G>T	17.37:g.33496889G>T	ENSP00000268876:p.Asp496Tyr		Q495Q8|Q495Q9	Missense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D496Y	ENST00000268876.5	37	c.1486	CCDS11292.1	17	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512546	0.85389	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649	T;T;T	0.32988	1.43;3.48;1.43	4.89	4.89	0.63831	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69168	-0.5216	10	0.87932	D	0	-34.1167	17.5697	0.87931	0.0:0.0:1.0:0.0	.	496;496	Q8IWX7-3;Q8IWX7	.;UN45B_HUMAN	Y	496	ENSP00000378071:D496Y;ENSP00000268876:D496Y;ENSP00000412840:D496Y	ENSP00000268876:D496Y	D	+	1	0	UNC45B	30521002	1.000000	0.71417	0.998000	0.56505	0.826000	0.46750	9.601000	0.98297	2.710000	0.92621	0.655000	0.94253	GAC	UNC45B	-	superfamily_ARM-type_fold		0.562	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	HGNC	protein_coding	OTTHUMT00000256458.2	G	NM_173167		33496889	+1	no_errors	ENST00000268876	ensembl	human	known	70_37	missense	SNP	1.000	T
USP39	10713	genome.wustl.edu	37	2	85876225	85876225	+	3'UTR	DEL	T	T	-	rs3832098|rs397780440	byFrequency	TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr2:85876225delT	ENST00000323701.6	+	0	2002				USP39_ENST00000409470.1_3'UTR|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_3'UTR|USP39_ENST00000450066.2_3'UTR|USP39_ENST00000409025.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39						cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AACTTATGTCTTGAGTATCTG	0.433											OREG0014749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|TT|T|insertion	2451	0.489417	0.8805	0.3228	5008	,	,		21608	0.377		0.3728	False		,,,				2504	0.3149																0																																										SO:0001624	3_prime_UTR_variant	10713			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.*294T>-	2.37:g.85876225delT		1240	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	RNA	DEL	-	NULL	ENST00000323701.6	37	NULL	CCDS33234.1	2																																																																																			USP39	-	-		0.433	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1	T	NM_006590		85876225	+1	no_errors	ENST00000459775	ensembl	human	known	70_37	rna	DEL	0.888	-
VPS13D	55187	genome.wustl.edu	37	1	12309611	12309611	+	Intron	SNP	A	A	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:12309611A>G	ENST00000358136.3	+	6	694				VPS13D_ENST00000356315.4_Intron	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		tatcactttcattttatacat	0.353																																																	0																																										SO:0001627	intron_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.564+215A>G	1.37:g.12309611A>G				RNA	SNP	-	NULL	ENST00000358136.3	37	NULL	CCDS30588.1	1																																																																																			VPS13D	-	-		0.353	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	A	NM_015378		12309611	+1	no_errors	ENST00000476169	ensembl	human	known	70_37	rna	SNP	0.012	G
WDR17	116966	genome.wustl.edu	37	4	177046476	177046476	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr4:177046476C>T	ENST00000280190.4	+	6	988	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S	WDR17_ENST00000507824.2_Missense_Mutation_p.P261S|WDR17_ENST00000393643.2_Missense_Mutation_p.P254S|WDR17_ENST00000508596.1_Missense_Mutation_p.P254S			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	278										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGCCTGGGTTCCCAGTGCTCC	0.403																																																	0													120.0	125.0	124.0					4																	177046476		2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.832C>T	4.37:g.177046476C>T	ENSP00000280190:p.Pro278Ser		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P278S	ENST00000280190.4	37	c.832	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316493	0.60524	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60672	0.21;0.23;0.17	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.059241	0.64402	D	0.000002	T	0.59404	0.2191	M	0.73962	2.25	0.58432	D	0.999999	B;B	0.22746	0.074;0.074	B;B	0.23018	0.043;0.043	T	0.60999	-0.7151	10	0.66056	D	0.02	-6.1363	14.2485	0.66004	0.0:0.927:0.0:0.073	.	254;278	E7EQX0;Q8IZU2	.;WDR17_HUMAN	S	254;254;278;261	ENSP00000422763:P254S;ENSP00000377258:P254S;ENSP00000280190:P278S	ENSP00000280190:P278S	P	+	1	0	WDR17	177283470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.411000	0.52672	2.722000	0.93159	0.650000	0.86243	CCC	WDR17	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.403	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	C			177046476	+1	no_errors	ENST00000280190	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFYVE9	9372	genome.wustl.edu	37	1	52798442	52798442	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:52798442G>C	ENST00000371591.1	+	13	3572	c.3441G>C	c.(3439-3441)atG>atC	p.M1147I	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.M1088I|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.M1147I|ZFYVE9_ENST00000469134.1_3'UTR	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1147					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GATTGCAGATGATGAAAGCCA	0.408																																																	0													82.0	75.0	78.0					1																	52798442		2203	4300	6503	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3441G>C	1.37:g.52798442G>C	ENSP00000360647:p.Met1147Ile		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.M1147I	ENST00000371591.1	37	c.3441	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797914	0.50208	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.37235	1.31;1.21;1.21	4.83	4.83	0.62350	Domain of unknown function DUF3480 (1);	0.125321	0.52532	D	0.000075	T	0.28896	0.0717	L	0.31065	0.9	0.52501	D	0.999957	B;B	0.33171	0.4;0.001	B;B	0.26969	0.075;0.026	T	0.17198	-1.0377	10	0.66056	D	0.02	.	18.1117	0.89538	0.0:0.0:1.0:0.0	.	1088;1147	O95405-2;O95405	.;ZFYV9_HUMAN	I	1088;1147;1147	ENSP00000349737:M1088I;ENSP00000287727:M1147I;ENSP00000360647:M1147I	ENSP00000287727:M1147I	M	+	3	0	ZFYVE9	52571030	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.114000	0.71560	2.518000	0.84900	0.557000	0.71058	ATG	ZFYVE9	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin		0.408	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	G	NM_007324		52798442	+1	no_errors	ENST00000287727	ensembl	human	known	70_37	missense	SNP	1.000	C
ZC3H11A	9877	genome.wustl.edu	37	1	203769304	203769304	+	5'UTR	SNP	T	T	C			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr1:203769304T>C	ENST00000545588.1	+	0	842				ZC3H11A_ENST00000466470.1_Intron|ZC3H11A_ENST00000332127.4_Intron|ZBED6_ENST00000550078.1_Missense_Mutation_p.L885S|ZC3H11A_ENST00000367214.1_Intron|ZC3H11A_ENST00000367212.3_Intron	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A						poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGACCCTTTAATTTACTGG	0.458																																																	0																																										SO:0001623	5_prime_UTR_variant	100381270				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.-2986T>C	1.37:g.203769304T>C			Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.L885S	ENST00000545588.1	37	c.2654	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928214	0.73327	.	.	ENSG00000257315	ENST00000550078	T	0.35605	1.3	5.47	5.47	0.80525	.	.	.	.	.	T	0.50616	0.1626	M	0.62088	1.915	0.36076	D	0.842452	.	.	.	.	.	.	T	0.63479	-0.6628	7	0.87932	D	0	.	13.784	0.63099	0.0:0.0:0.0:1.0	.	.	.	.	S	885	ENSP00000447879:L885S	ENSP00000447879:L885S	L	+	2	0	ZBED6	202035927	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.545000	0.53648	2.196000	0.70406	0.528000	0.53228	TTA	ZBED6	-	pfam_HATC,superfamily_RNaseH-like_dom		0.458	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED6	HGNC	protein_coding	OTTHUMT00000087471.3	T	NM_014827		203769304	+1	no_errors	ENST00000550078	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF268	10795	genome.wustl.edu	37	12	133780222	133780222	+	Silent	SNP	G	G	T	rs376618869		TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr12:133780222G>T	ENST00000536435.2	+	6	2280	c.1950G>T	c.(1948-1950)acG>acT	p.T650T	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Silent_p.T489T|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Silent_p.T650T	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	650					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AAGCCTTTACGTTCAAATCAC	0.393																																																	0													86.0	75.0	78.0					12																	133780222		692	1591	2283	SO:0001819	synonymous_variant	10795			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.1950G>T	12.37:g.133780222G>T			Q8TDG8|Q96RH4|Q9BZJ9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T650	ENST00000536435.2	37	c.1950	CCDS45012.1	12																																																																																			ZNF268	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF268	HGNC	protein_coding	OTTHUMT00000397191.2	G	NM_152943		133780222	+1	no_errors	ENST00000228289	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF271	10778	genome.wustl.edu	37	18	32890708	32890708	+	RNA	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr18:32890708C>T	ENST00000399070.3	+	0	5102					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						Atcatttattcaataaatatt	0.443																																																	0																																												10778			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32890708C>T			B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-		0.443	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2	C	NR_024565		32890708	+1	no_errors	ENST00000399070	ensembl	human	known	70_37	rna	SNP	0.001	T
ZNF829	374899	genome.wustl.edu	37	19	37406814	37406814	+	Intron	SNP	C	C	T			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:37406814C>T	ENST00000391711.3	-	1	281				ZNF829_ENST00000520965.1_Missense_Mutation_p.G15R|ZNF568_ENST00000455427.2_5'Flank|ZNF568_ENST00000427117.1_5'Flank|ZNF568_ENST00000333987.7_5'Flank|ZNF568_ENST00000415168.1_5'Flank	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCGCCAGCTCCCCATCGGTCT	0.602																																																	0																																										SO:0001627	intron_variant	374899			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.83+98G>A	19.37:g.37406814C>T			Q3KNS7|Q6ZNN0|Q7Z657	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.G15R	ENST00000391711.3	37	c.43	CCDS42557.1	19																																																																																			ZNF829	-	NULL		0.602	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	C	NM_001037232		37406814	-1	no_errors	ENST00000520965	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF677	342926	genome.wustl.edu	37	19	53741588	53741588	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A3HL-01A-11D-A20U-09	TCGA-C5-A3HL-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32898a90-051e-471e-9c2c-22f8ec5ef4dd	43a31144-5227-4461-b012-a2080346c704	g.chr19:53741588C>G	ENST00000598513.1	-	5	542	c.392G>C	c.(391-393)aGa>aCa	p.R131T	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.R131T	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R131K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTGATCTTTTCTGTGAGTGAG	0.358																																																	1	Substitution - Missense(1)	urinary_tract(1)											147.0	141.0	143.0					19																	53741588		2203	4299	6502	SO:0001583	missense	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.392G>C	19.37:g.53741588C>G	ENSP00000469391:p.Arg131Thr			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.R131T	ENST00000598513.1	37	c.392	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	C	7.207	0.594595	0.13875	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.07688	3.17	2.29	2.29	0.28610	.	0.775970	0.10693	N	0.644974	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	P	0.51791	0.948	P	0.46850	0.529	T	0.37820	-0.9689	10	0.27785	T	0.31	.	10.6967	0.45903	0.0:1.0:0.0:0.0	.	131	Q86XU0	ZN677_HUMAN	T	131	ENSP00000334394:R131T	ENSP00000334394:R131T	R	-	2	0	ZNF677	58433400	0.000000	0.05858	0.090000	0.20809	0.074000	0.17049	-0.097000	0.11042	1.592000	0.50018	0.655000	0.94253	AGA	ZNF677	-	NULL		0.358	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	C	NM_182609		53741588	-1	no_errors	ENST00000333952	ensembl	human	known	70_37	missense	SNP	0.118	G
