#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
MALRD1	340895	genome.wustl.edu	37	10	19780463	19780463	+	Missense_Mutation	SNP	C	C	A	rs16918863	byFrequency	TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr10:19780463C>A	ENST00000454679.2	+	16	3145	c.3145C>A	c.(3145-3147)Ctt>Att	p.L1049I	C10orf112_ENST00000492202.1_3'UTR|C10orf112_ENST00000455457.2_5'UTR			Q5VYJ5	MALR1_HUMAN		1049	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.		L -> I (in dbSNP:rs16918863).		cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						GATCTCTGAGCTTTGTCCGGA	0.388													a|||	1109	0.221446	0.5862	0.1225	5008	,	,		18814	0.1339		0.0606	False		,,,				2504	0.0542					dbGAP											0																																										-	-	-	SO:0001583	missense	0																														ENST00000454679.2:c.3145C>A	10.37:g.19780463C>A	ENSP00000412763:p.Leu1049Ile		B7ZBP2	Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom	p.L1049I	ENST00000454679.2	37	c.3145		10	419|419	0.19184981684981686|0.19184981684981686	249|249	0.5060975609756098|0.5060975609756098	40|40	0.11049723756906077|0.11049723756906077	85|85	0.1486013986013986|0.1486013986013986	45|45	0.059366754617414245|0.059366754617414245	a|a	0.061|0.061	-1.224317|-1.224317	0.01530|0.01530	.|.	.|.	ENSG00000204740|ENSG00000204740	ENST00000377265|ENST00000377266;ENST00000454679;ENST00000441070	.|D;D;T	.|0.88124	.|-2.34;-1.98;4.35	5.23|5.23	-2.6|-2.6	0.06190|0.06190	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	.|.	.|.	.|.	0.50467|0.50467	P|P	1.2599999999995948E-4|1.2599999999995948E-4	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.25813|0.25813	-1.0121|-1.0121	3|4	.|.	.|.	.|.	.|.	8.9243|8.9243	0.35630|0.35630	0.3796:0.1249:0.4955:0.0|0.3796:0.1249:0.4955:0.0	rs16918863;rs52804309;rs16918863|rs16918863;rs52804309;rs16918863	.|.	.|.	.|.	D|I	33|1062;1049;246	.|ENSP00000366477:L1062I;ENSP00000412763:L1049I;ENSP00000404330:L246I	.|.	A|L	+|+	2|1	0|0	C10orf112|C10orf112	19820469|19820469	0.040000|0.040000	0.19996|0.19996	0.348000|0.348000	0.25681|0.25681	0.389000|0.389000	0.30415|0.30415	-0.153000|-0.153000	0.10144|0.10144	-0.668000|-0.668000	0.05296|0.05296	-1.277000|-1.277000	0.01392|0.01392	GCT|CTT	C10orf112	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000204740		0.388	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding		28	0.00	0	C			19780463	19780463	+1	no_errors	ENST00000454679	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	0.096	A
BMS1P1	728053	genome.wustl.edu	37	10	46751437	46751437	+	RNA	SNP	T	T	C			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr10:46751437T>C	ENST00000445221.1	-	0	1068					NR_026566.1				BMS1 pseudogene 1																		CTTGATTATCTATAGCCTCTG	0.383																																						dbGAP											0																																										-	-	-			0					10q11.22	2011-12-01	2007-03-20	2007-03-20	ENSG00000204177	ENSG00000204177			23649	pseudogene	pseudogene			"""BMS1L pseudogene 1"""	BMS1LP1			Standard			Approved	bA556L1.3, OTTHUMG00000018098	uc001jdx.4		OTTHUMG00000018098		10.37:g.46751437T>C				RNA	SNP	-	NULL	ENST00000445221.1	37	NULL		10																																																																																			BMS1P1	-	-	ENSG00000204177		0.383	BMS1P1-003	KNOWN	basic	processed_transcript	BMS1P1	HGNC	pseudogene	OTTHUMT00000047825.1	35	0.00	0	T			46751437	46751437	-1	no_errors	ENST00000416851	ensembl	human	known	69_37n	rna	18	18.18	4	SNP	1.000	C
CCR8	1237	genome.wustl.edu	37	3	39374594	39374594	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr3:39374594C>G	ENST00000326306.4	+	2	910	c.772C>G	c.(772-774)Ctt>Gtt	p.L258V	CCR8_ENST00000545843.1_Missense_Mutation_p.L175V|CCR8_ENST00000414803.1_3'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	258					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CAACGTGGTTCTTTTCCTCAC	0.453																																						dbGAP											0													135.0	111.0	119.0					3																	39374594		2203	4300	6503	-	-	-	SO:0001583	missense	0			D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.772C>G	3.37:g.39374594C>G	ENSP00000326432:p.Leu258Val		B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR8,prints_Chemokine_CXCR4,prints_Brdyknn_rcpt	p.L258V	ENST00000326306.4	37	c.772	CCDS2684.1	3	.	.	.	.	.	.	.	.	.	.	C	3.748	-0.052196	0.07362	.	.	ENSG00000179934	ENST00000326306;ENST00000545843	T;T	0.38240	1.15;1.15	4.76	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.312513	0.31347	N	0.007802	T	0.33323	0.0859	M	0.66439	2.03	0.20764	N	0.999858	B;B	0.31752	0.215;0.338	B;B	0.35607	0.206;0.206	T	0.35992	-0.9766	10	0.56958	D	0.05	.	3.1113	0.06359	0.3133:0.4474:0.1523:0.087	.	258;175	P51685;Q3KNR3	CCR8_HUMAN;.	V	258;175	ENSP00000326432:L258V;ENSP00000440474:L175V	ENSP00000326432:L258V	L	+	1	0	CCR8	39349598	0.001000	0.12720	0.924000	0.36721	0.052000	0.14988	0.395000	0.20850	0.605000	0.29947	-0.181000	0.13052	CTT	CCR8	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000179934		0.453	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR8	HGNC	protein_coding	OTTHUMT00000254058.2	117	0.00	0	C	NM_005201		39374594	39374594	+1	no_errors	ENST00000326306	ensembl	human	known	69_37n	missense	65	10.81	8	SNP	0.269	G
DDX59	83479	genome.wustl.edu	37	1	200635368	200635368	+	Silent	SNP	G	G	A			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr1:200635368G>A	ENST00000331314.6	-	2	714	c.501C>T	c.(499-501)gtC>gtT	p.V167V	DDX59_ENST00000367348.3_Silent_p.V167V|DDX59_ENST00000447706.2_Silent_p.V167V	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	167						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						GCTCTTTGTAGACATAGGAAG	0.418																																						dbGAP											0													91.0	94.0	93.0					1																	200635368		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.501C>T	1.37:g.200635368G>A			Q6PJL2|Q8IVW3|Q9H0W3	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.V167	ENST00000331314.6	37	c.501	CCDS30964.1	1																																																																																			DDX59	-	NULL	ENSG00000118197		0.418	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX59	HGNC	protein_coding	OTTHUMT00000086883.2	42	0.00	0	G	NM_001031725.4		200635368	200635368	-1	no_errors	ENST00000331314	ensembl	human	known	69_37n	silent	33	10.81	4	SNP	1.000	A
FRMPD3	84443	genome.wustl.edu	37	X	106846552	106846552	+	Silent	SNP	G	G	A	rs141655380		TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chrX:106846552G>A	ENST00000276185.4	+	16	5382	c.5382G>A	c.(5380-5382)tcG>tcA	p.S1794S				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1794						cytoskeleton (GO:0005856)		p.S1843S(1)|p.S1794S(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CCCCAACTTCGGCGACTGTTA	0.567													g|||	141	0.037351	0.1036	0.0058	3775	,	,		14048	0.0		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - coding silent(2)	breast(2)											2.0	2.0	2.0					X																	106846552		539	1224	1763	-	-	-	SO:0001819	synonymous_variant	0			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.5382G>A	X.37:g.106846552G>A			Q96JK8	Silent	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.S1794	ENST00000276185.4	37	c.5382		X																																																																																			FRMPD3	-	NULL	ENSG00000147234		0.567	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		88	0.00	0	G	XM_042978		106846552	106846552	+1	no_errors	ENST00000276185	ensembl	human	known	69_37n	silent	41	10.87	5	SNP	0.850	A
GRM1	2911	genome.wustl.edu	37	6	146673426	146673426	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr6:146673426G>C	ENST00000282753.1	+	4	1462	c.1227G>C	c.(1225-1227)aaG>aaC	p.K409N	GRM1_ENST00000361719.2_Missense_Mutation_p.K409N|GRM1_ENST00000392299.2_Missense_Mutation_p.K409N|GRM1_ENST00000355289.4_Missense_Mutation_p.K409N|GRM1_ENST00000492807.2_Missense_Mutation_p.K409N|GRM1_ENST00000507907.1_Missense_Mutation_p.K409N			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	409					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGGACAGTAAGATGGGGTTTG	0.483																																						dbGAP											0													142.0	129.0	133.0					6																	146673426		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1227G>C	6.37:g.146673426G>C	ENSP00000282753:p.Lys409Asn		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C	p.K409N	ENST00000282753.1	37	c.1227	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637167	0.67130	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.73	-0.00155	0.14034	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88687	0.6504	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.88237	0.2907	10	0.87932	D	0	.	9.2315	0.37439	0.7515:0.0:0.2485:0.0	.	409;409;409	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	N	409	ENSP00000354896:K409N;ENSP00000376119:K409N;ENSP00000424095:K409N;ENSP00000282753:K409N;ENSP00000347437:K409N;ENSP00000425599:K409N	ENSP00000282753:K409N	K	+	3	2	GRM1	146715119	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.293000	0.43558	0.050000	0.15949	-0.150000	0.13652	AAG	GRM1	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt	ENSG00000152822		0.483	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	73	0.00	0	G	NM_000838		146673426	146673426	+1	no_errors	ENST00000282753	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	C
GUCA2B	2981	genome.wustl.edu	37	1	42620392	42620392	+	Silent	SNP	G	G	C			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr1:42620392G>C	ENST00000372581.1	+	2	162	c.132G>C	c.(130-132)ctG>ctC	p.L44L		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	44					body fluid secretion (GO:0007589)|cGMP biosynthetic process (GO:0006182)|excretion (GO:0007588)|negative regulation of blood pressure (GO:0045776)|positive regulation of guanylate cyclase activity (GO:0031284)	extracellular vesicular exosome (GO:0070062)	calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGAAGAAGCTGAGTGACCTGG	0.647																																						dbGAP											0													50.0	52.0	51.0					1																	42620392		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC069301	CCDS464.1	1p34-p33	2014-01-30			ENSG00000044012	ENSG00000044012		"""Endogenous ligands"""	4683	protein-coding gene	gene with protein product	"""prepro-uroguanylin"""	601271				8605041, 9268639	Standard	NM_007102		Approved		uc001chc.1	Q16661	OTTHUMG00000007024	ENST00000372581.1:c.132G>C	1.37:g.42620392G>C			Q52LV0	Silent	SNP	pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin	p.L44	ENST00000372581.1	37	c.132	CCDS464.1	1																																																																																			GUCA2B	-	pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin	ENSG00000044012		0.647	GUCA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA2B	HGNC	protein_coding	OTTHUMT00000018307.1	44	0.00	0	G	NM_007102		42620392	42620392	+1	no_errors	ENST00000372581	ensembl	human	known	69_37n	silent	33	15.38	6	SNP	0.645	C
HIPK2	28996	genome.wustl.edu	37	7	139258080	139258080	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr7:139258080G>T	ENST00000406875.3	-	15	3284	c.3190C>A	c.(3190-3192)Ccc>Acc	p.P1064T	HIPK2_ENST00000428878.2_Missense_Mutation_p.P1037T	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1064	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCCATGGTGGGAGTGATGTAG	0.682																																						dbGAP											0													94.0	115.0	108.0					7																	139258080		2183	4280	6463	-	-	-	SO:0001583	missense	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3190C>A	7.37:g.139258080G>T	ENSP00000385571:p.Pro1064Thr		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P1064T	ENST00000406875.3	37	c.3190		7	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963005	0.34659	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.56275	0.48;0.47	5.08	4.18	0.49190	.	.	.	.	.	T	0.44095	0.1277	.	.	.	0.53005	D	0.999965	B;B	0.26602	0.096;0.154	B;B	0.27262	0.036;0.078	T	0.30679	-0.9970	8	0.30854	T	0.27	.	14.8535	0.70316	0.0:0.0:0.8553:0.1447	.	1064;1037	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	T	1064;1037	ENSP00000385571:P1064T;ENSP00000413724:P1037T	ENSP00000385571:P1064T	P	-	1	0	HIPK2	138908620	1.000000	0.71417	0.968000	0.41197	0.962000	0.63368	2.747000	0.47475	1.325000	0.45301	0.655000	0.94253	CCC	HIPK2	-	NULL	ENSG00000064393		0.682	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	37	0.00	0	G	NM_022740		139258080	139258080	-1	no_errors	ENST00000406875	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	T
HSD3B7	80270	genome.wustl.edu	37	16	30997267	30997267	+	Intron	SNP	G	G	C			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr16:30997267G>C	ENST00000297679.5	+	3	259				AC135048.1_ENST00000602217.1_Silent_p.L89L|HSD3B7_ENST00000262520.6_Intron|HSD3B7_ENST00000353250.5_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGGATGGGTCGAGTGAGTCAC	0.612																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.167-103G>C	16.37:g.30997267G>C			Q96M28|Q9BSN9	Silent	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_Polysac_CapD-like,pfam_PKS_KR,pfam_dTDP_dehydrorham_reduct	p.S96	ENST00000297679.5	37	c.288	CCDS10698.1	16																																																																																			HSD3B7	-	pfam_Epimerase_deHydtase,pfam_PKS_KR,pfam_dTDP_dehydrorham_reduct	ENSG00000099377		0.612	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B7	HGNC	protein_coding	OTTHUMT00000255554.2	49	0.00	0	G			30997267	30997267	+1	no_stop_codon	ENST00000562932	ensembl	human	novel	69_37n	silent	30	11.76	4	SNP	0.007	C
ITGAX	3687	genome.wustl.edu	37	16	31366564	31366564	+	5'UTR	SNP	G	G	A			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr16:31366564G>A	ENST00000268296.4	+	0	110				ITGAX_ENST00000562918.1_3'UTR|ITGAX_ENST00000562522.1_5'UTR	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCCACATCTGACCTTCTAGT	0.602																																						dbGAP											0													47.0	36.0	39.0					16																	31366564		2197	4300	6497	-	-	-	SO:0001623	5_prime_UTR_variant	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.-12G>A	16.37:g.31366564G>A			Q8IVA6	RNA	SNP	-	NULL	ENST00000268296.4	37	NULL	CCDS10711.1	16																																																																																			ITGAX	-	-	ENSG00000140678		0.602	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	71	0.00	0	G	NM_000887		31366564	31366564	+1	no_errors	ENST00000562918	ensembl	human	known	69_37n	rna	33	15.38	6	SNP	0.003	A
LILRB3	11025	genome.wustl.edu	37	19	54725995	54725995	+	Silent	SNP	G	G	A	rs61187720	byFrequency	TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr19:54725995G>A	ENST00000391750.1	-	5	499	c.363C>T	c.(361-363)taC>taT	p.Y121Y	LILRB3_ENST00000245620.9_Silent_p.Y121Y|LILRB3_ENST00000424807.1_Silent_p.Y121Y|LILRB3_ENST00000407860.2_Silent_p.Y121Y|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000346401.6_Silent_p.Y121Y|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000469273.1_5'Flank|LILRA6_ENST00000270464.5_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	121	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Y121Y(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGTTTGCTGTAGGCTCCTA	0.602													.|||	3372	0.673323	0.7035	0.7046	5008	,	,		13444	0.7083		0.7018	False		,,,				2504	0.545					dbGAP											1	Substitution - coding silent(1)	prostate(1)											64.0	41.0	49.0					19																	54725995		2132	3927	6059	-	-	-	SO:0001819	synonymous_variant	0			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.363C>T	19.37:g.54725995G>A			C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y121	ENST00000391750.1	37	c.363	CCDS33105.1	19																																																																																			LILRB3	-	NULL	ENSG00000204577		0.602	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000142844.5	21	0.00	0	G	NM_006864		54725995	54725995	-1	no_errors	ENST00000407860	ensembl	human	known	69_37n	silent	18	33.33	9	SNP	0.001	A
LRRK2	120892	genome.wustl.edu	37	12	40758829	40758829	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr12:40758829G>C	ENST00000298910.7	+	49	7425	c.7367G>C	c.(7366-7368)aGa>aCa	p.R2456T		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2456					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AATTCGGTCAGAGTCATGATG	0.348																																						dbGAP											0													83.0	77.0	79.0					12																	40758829		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7367G>C	12.37:g.40758829G>C	ENSP00000298910:p.Arg2456Thr		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.R2456T	ENST00000298910.7	37	c.7367	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098318	0.76870	.	.	ENSG00000188906	ENST00000298910	T	0.32515	1.45	5.29	5.29	0.74685	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	M	0.68952	2.095	0.46044	D	0.998833	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59300	-0.7480	10	0.72032	D	0.01	.	18.954	0.92650	0.0:0.0:1.0:0.0	.	2456;2456	Q17RV3;Q5S007	.;LRRK2_HUMAN	T	2456	ENSP00000298910:R2456T	ENSP00000298910:R2456T	R	+	2	0	LRRK2	39045096	1.000000	0.71417	0.954000	0.39281	0.817000	0.46193	7.076000	0.76806	2.466000	0.83321	0.585000	0.79938	AGA	LRRK2	-	superfamily_WD40_repeat_dom	ENSG00000188906		0.348	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	81	0.00	0	G	XM_058513		40758829	40758829	+1	no_errors	ENST00000298910	ensembl	human	known	69_37n	missense	48	12.73	7	SNP	0.995	C
MAPK6	5597	genome.wustl.edu	37	15	52357189	52357189	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr15:52357189C>G	ENST00000261845.5	+	6	2965	c.2158C>G	c.(2158-2160)Ctg>Gtg	p.L720V	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	720					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TCTGAAACATCTGAACTAAAA	0.338																																						dbGAP											0													39.0	40.0	40.0					15																	52357189		2149	4140	6289	-	-	-	SO:0001583	missense	0			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.2158C>G	15.37:g.52357189C>G	ENSP00000261845:p.Leu720Val		B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	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,prints_MAPK_ERK3/4	p.L720V	ENST00000261845.5	37	c.2158	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	C	15.97	2.991211	0.54041	.	.	ENSG00000069956	ENST00000261845	T	0.78816	-1.21	5.05	5.05	0.67936	.	0.066013	0.64402	N	0.000009	T	0.80737	0.4680	N	0.19112	0.55	0.58432	D	0.999999	D	0.63880	0.993	D	0.67548	0.952	D	0.84191	0.0445	10	0.87932	D	0	-2.097	18.5817	0.91174	0.0:1.0:0.0:0.0	.	720	Q16659	MK06_HUMAN	V	720	ENSP00000261845:L720V	ENSP00000261845:L720V	L	+	1	2	MAPK6	50144481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.422000	0.59854	2.419000	0.82065	0.543000	0.68304	CTG	MAPK6	-	NULL	ENSG00000069956		0.338	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	HGNC	protein_coding	OTTHUMT00000254841.2	34	0.00	0	C	NM_002748		52357189	52357189	+1	no_errors	ENST00000261845	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	1.000	G
SYTL5	94122	genome.wustl.edu	37	X	37883200	37883200	+	Intron	SNP	A	A	G	rs73463468		TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chrX:37883200A>G	ENST00000357972.5	+	2	87				TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Intron|MIR548AJ2_ENST00000408539.2_RNA			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						taaaagtaatagcaaaaactg	0.308													N|||	1732	0.458808	0.6611	0.3401	3775	,	,		11771	0.1319		0.1958	False		,,,				2504	0.2986					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.-459-9484A>G	X.37:g.37883200A>G			A2RRF2	RNA	SNP	-	NULL	ENST00000357972.5	37	NULL	CCDS14244.1	X																																																																																			MIR548AJ2	-	-	ENSG00000221466		0.308	SYTL5-201	KNOWN	basic|CCDS	protein_coding	MIR548AJ2	HGNC	protein_coding	OTTHUMT00000080883.1	39	0.00	0	A	NM_138780		37883200	37883200	-1	no_errors	ENST00000408539	ensembl	human	known	69_37n	rna	25	13.79	4	SNP	0.025	G
NWD1	284434	genome.wustl.edu	37	19	16842052	16842052	+	Missense_Mutation	SNP	G	G	T	rs8107776	byFrequency	TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr19:16842052G>T	ENST00000552788.1	+	1	44	c.44G>T	c.(43-45)tGc>tTc	p.C15F	NWD1_ENST00000523826.1_5'UTR|NWD1_ENST00000379808.3_Missense_Mutation_p.C15F|NWD1_ENST00000524140.2_Missense_Mutation_p.C15F|NWD1_ENST00000549814.1_Missense_Mutation_p.C15F			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	15				C -> F (in Ref. 1; CAH18655). {ECO:0000305}.			ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCCTGAAGTGCCAGACCTTC	0.498													g|||	2480	0.495208	0.6407	0.3718	5008	,	,		16503	0.2619		0.6133	False		,,,				2504	0.5051					dbGAP											0																																										-	-	-	SO:0001583	missense	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.44G>T	19.37:g.16842052G>T	ENSP00000447224:p.Cys15Phe		C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C15F	ENST00000552788.1	37	c.44		19	1082	0.49542124542124544	313	0.6361788617886179	159	0.43922651933701656	153	0.2674825174825175	457	0.6029023746701847	g	7.655	0.683798	0.14907	.	.	ENSG00000188039	ENST00000524140;ENST00000549814;ENST00000379808;ENST00000552788	T;T;T;T	0.55413	0.52;0.58;0.52;0.58	4.68	-2.14	0.07123	.	1.465170	0.04678	N	0.411842	T	0.00012	0.0000	N	0.08118	0	0.20489	P	0.999892517	B	0.02656	0.0	B	0.01281	0.0	T	0.43589	-0.9382	9	0.08599	T	0.76	.	2.026	0.03519	0.1803:0.2826:0.3931:0.144	rs8107776;rs56832634	15	Q149M9-3	.	F	15	ENSP00000428579:C15F;ENSP00000447548:C15F;ENSP00000369136:C15F;ENSP00000447224:C15F	ENSP00000369136:C15F	C	+	2	0	NWD1	16703052	0.993000	0.37304	0.418000	0.26571	0.470000	0.32858	0.024000	0.13555	-0.140000	0.11394	0.437000	0.28790	TGC	NWD1	-	NULL	ENSG00000188039		0.498	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	29	0.00	0	G	NM_001007525		16842052	16842052	+1	no_errors	ENST00000379808	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	0.578	T
PER3	8863	genome.wustl.edu	37	1	7890064	7890064	+	Silent	SNP	A	A	G	rs12023156	byFrequency	TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr1:7890064A>G	ENST00000361923.2	+	18	3205	c.3030A>G	c.(3028-3030)acA>acG	p.T1010T	PER3_ENST00000377532.3_Silent_p.T1019T|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1010	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.		Missing (associated with eveningness and better cognitive performance during sleep deprivation exepriments; dbSNP:rs57875989).|T -> I (in dbSNP:rs12033719).		circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGTCCACAGGATCGCCTC	0.577													G|||	1226	0.244808	0.2421	0.2118	5008	,	,		10880	0.1478		0.2863	False		,,,				2504	0.3292					dbGAP											0													93.0	74.0	80.0					1																	7890064		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3030A>G	1.37:g.7890064A>G			Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.T1010	ENST00000361923.2	37	c.3030	CCDS89.1	1	599	0.2742673992673993	129	0.2621951219512195	101	0.27900552486187846	118	0.2062937062937063	251	0.3311345646437995	G	1.865	-0.461664	0.04508	.	.	ENSG00000049246	ENST00000539773	.	.	.	0.119	0.119	0.14685	.	.	.	.	.	.	.	.	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs12023156	.	.	.	.	-1	.	.	.	+	.	.	PER3	7812651	0.005000	0.15991	0.054000	0.19295	0.063000	0.16089	0.651000	0.24873	0.235000	0.21160	0.232000	0.17820	.	PER3	-	pfam_Period_circadian-like_C	ENSG00000049246		0.577	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	45	0.00	0	A	NM_016831		7890064	7890064	+1	no_errors	ENST00000361923	ensembl	human	known	69_37n	silent	26	16.13	5	SNP	0.063	G
PAPPA2	60676	genome.wustl.edu	37	1	176526299	176526299	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr1:176526299G>A	ENST00000367662.3	+	2	2005	c.841G>A	c.(841-843)Gag>Aag	p.E281K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E281K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	281					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGTGCTGGCTGAGATTCCCCG	0.577																																						dbGAP											0													27.0	27.0	27.0					1																	176526299		1938	4142	6080	-	-	-	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.841G>A	1.37:g.176526299G>A	ENSP00000356634:p.Glu281Lys		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.E281K	ENST00000367662.3	37	c.841	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795179	0.90453	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.73363	-0.74;-0.74	4.58	4.58	0.56647	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.143630	0.44902	D	0.000417	T	0.81442	0.4823	M	0.73962	2.25	0.38444	D	0.94678	P;P	0.50819	0.879;0.939	P;P	0.53988	0.661;0.739	D	0.84716	0.0737	10	0.51188	T	0.08	-10.2757	14.3052	0.66380	0.0:0.0:1.0:0.0	.	281;281	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	K	281	ENSP00000356634:E281K;ENSP00000356633:E281K	ENSP00000356633:E281K	E	+	1	0	PAPPA2	174792922	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.237000	0.58681	2.103000	0.63969	0.313000	0.20887	GAG	PAPPA2	-	superfamily_ConA-like_lec_gl	ENSG00000116183		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	76	0.00	0	G			176526299	176526299	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	A
PIKFYVE	200576	genome.wustl.edu	37	2	209215532	209215532	+	Silent	SNP	C	C	A			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr2:209215532C>A	ENST00000264380.4	+	37	5630	c.5472C>A	c.(5470-5472)ctC>ctA	p.L1824L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1824	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACTGTCGGCTCTACTATGCGG	0.423																																						dbGAP											0													121.0	121.0	121.0					2																	209215532		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5472C>A	2.37:g.209215532C>A			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.L1824	ENST00000264380.4	37	c.5472	CCDS2382.1	2																																																																																			PIKFYVE	-	smart_PInositol-4P-5-kinase_core_sub	ENSG00000115020		0.423	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	58	0.00	0	C	NM_015040		209215532	209215532	+1	no_errors	ENST00000264380	ensembl	human	known	69_37n	silent	46	13.21	7	SNP	0.867	A
RTP2	344892	genome.wustl.edu	37	3	187416513	187416513	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr3:187416513G>A	ENST00000358241.1	-	2	879	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	151					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		AACTCTGCACGATGCGGCCCG	0.647																																						dbGAP											0													41.0	40.0	40.0					3																	187416513		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.451C>T	3.37:g.187416513G>A	ENSP00000350976:p.Arg151Cys		Q6NVH4	Missense_Mutation	SNP	NULL	p.R151C	ENST00000358241.1	37	c.451	CCDS33911.1	3	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215319	0.39102	.	.	ENSG00000198471	ENST00000358241	T	0.24350	1.86	4.04	4.04	0.47022	.	0.303052	0.36002	N	0.002859	T	0.40473	0.1118	L	0.44542	1.39	0.42954	D	0.994388	D	0.89917	1.0	D	0.75484	0.986	T	0.18808	-1.0325	10	0.62326	D	0.03	-41.5761	11.9954	0.53198	0.0:0.0:1.0:0.0	.	151	Q5QGT7	RTP2_HUMAN	C	151	ENSP00000350976:R151C	ENSP00000350976:R151C	R	-	1	0	RTP2	188899207	0.960000	0.32886	0.845000	0.33349	0.010000	0.07245	1.337000	0.33862	2.552000	0.86080	0.462000	0.41574	CGT	RTP2	-	NULL	ENSG00000198471		0.647	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP2	HGNC	protein_coding	OTTHUMT00000344259.1	54	0.00	0	G	NM_001004312		187416513	187416513	-1	no_errors	ENST00000358241	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	0.844	A
LINC00969	440993	genome.wustl.edu	37	3	195404649	195404649	+	lincRNA	SNP	A	A	G	rs52815337		TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr3:195404649A>G	ENST00000445430.1	+	0	1506									long intergenic non-protein coding RNA 969																		TCTGTCACGAATCTTGACAAA	0.413																																						dbGAP											0																																										-	-	-			0			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195404649A>G				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			SDHAP2	-	-	ENSG00000215837		0.413	LINC00969-038	KNOWN	basic	lincRNA	SDHAP2	HGNC	lincRNA	OTTHUMT00000341951.1	38	0.00	0	A			195404649	195404649	+1	no_errors	ENST00000429897	ensembl	human	known	69_37n	rna	37	11.90	5	SNP	1.000	G
SEC24B	10427	genome.wustl.edu	37	4	110427524	110427524	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr4:110427524G>A	ENST00000265175.5	+	7	1584	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	SEC24B_ENST00000504968.2_Missense_Mutation_p.G540E|SEC24B_ENST00000399100.2_Missense_Mutation_p.G475E	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	510					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGTATAGGAGGATTGAGTCTT	0.378																																						dbGAP											0													105.0	99.0	101.0					4																	110427524		1881	4116	5997	-	-	-	SO:0001583	missense	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1529G>A	4.37:g.110427524G>A	ENSP00000265175:p.Gly510Glu		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.G510E	ENST00000265175.5	37	c.1529	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277685	0.80692	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.25250	1.81;1.81;1.81	5.67	5.67	0.87782	.	0.050966	0.85682	D	0.000000	T	0.50257	0.1605	M	0.62088	1.915	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.983;0.999;1.0;0.999	D;P;D;D;D	0.76575	0.96;0.891;0.96;0.988;0.973	T	0.28459	-1.0043	10	0.34782	T	0.22	-17.4773	19.7784	0.96405	0.0:0.0:1.0:0.0	.	424;109;540;475;510	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	E	540;475;510	ENSP00000428564:G540E;ENSP00000382051:G475E;ENSP00000265175:G510E	ENSP00000265175:G510E	G	+	2	0	SEC24B	110646973	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	6.986000	0.76200	2.658000	0.90341	0.591000	0.81541	GGA	SEC24B	-	NULL	ENSG00000138802		0.378	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	26	0.00	0	G			110427524	110427524	+1	no_errors	ENST00000265175	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	0.996	A
TARBP1	6894	genome.wustl.edu	37	1	234528373	234528373	+	Intron	SNP	C	C	T	rs7523423	byFrequency	TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr1:234528373C>T	ENST00000040877.1	-	29	4560				TARBP1_ENST00000483404.1_Intron	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1						regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AGTTAAAAAACGTATTAACCT	0.264													C|||	2544	0.507987	0.6233	0.5692	5008	,	,		16614	0.494		0.4334	False		,,,				2504	0.3998					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4561-75G>A	1.37:g.234528373C>T			Q9H581	RNA	SNP	-	NULL	ENST00000040877.1	37	NULL	CCDS1601.1	1																																																																																			TARBP1	-	-	ENSG00000059588		0.264	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	21	0.00	0	C	NM_005646		234528373	234528373	-1	no_errors	ENST00000471918	ensembl	human	known	69_37n	rna	19	24.00	6	SNP	0.000	T
TMEM249	340393	genome.wustl.edu	37	8	145578296	145578296	+	Silent	SNP	A	A	G	rs2272663	byFrequency	TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr8:145578296A>G	ENST00000398633.3	-	1	278	c.132T>C	c.(130-132)ttT>ttC	p.F44F	TMEM249_ENST00000531225.1_3'UTR|FBXL6_ENST00000526524.1_5'Flank	NM_001252402.1	NP_001239331.1	Q2WGJ8	TM249_HUMAN	transmembrane protein 249	44						integral component of membrane (GO:0016021)											CCTGCTGCACAAATGGGTAGA	0.711													g|||	2843	0.567692	0.4826	0.5706	5008	,	,		7421	0.6984		0.4573	False		,,,				2504	0.6595					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS59117.1	8q24.3	2012-07-02			ENSG00000214597	ENSG00000261587			44155	protein-coding gene	gene with protein product							Standard	NM_001252402		Approved	C8orfK29	uc011llb.2	Q2WGJ8	OTTHUMG00000165167	ENST00000398633.3:c.132T>C	8.37:g.145578296A>G				Silent	SNP	NULL	p.F44	ENST00000398633.3	37	c.132	CCDS59117.1	8																																																																																			TMEM249	-	NULL	ENSG00000214597		0.711	TMEM249-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM249	HGNC	protein_coding	OTTHUMT00000382802.1	45	0.00	0	A	NM_001252402		145578296	145578296	-1	no_errors	ENST00000398633	ensembl	human	known	69_37n	silent	28	12.50	4	SNP	0.147	G
TTN	7273	genome.wustl.edu	37	2	179483102	179483102	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr2:179483102C>G	ENST00000591111.1	-	202	42384	c.42160G>C	c.(42160-42162)Gaa>Caa	p.E14054Q	TTN_ENST00000359218.5_Missense_Mutation_p.E6755Q|TTN_ENST00000460472.2_Missense_Mutation_p.E6630Q|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E15695Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6822Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13127Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14054	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACGTCTTTCAACAACGTAA	0.438																																						dbGAP											0													73.0	70.0	71.0					2																	179483102		1917	4122	6039	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42160G>C	2.37:g.179483102C>G	ENSP00000465570:p.Glu14054Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E13127Q	ENST00000591111.1	37	c.39379		2	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684448	0.47991	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.75	5.75	0.90469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73281	0.3567	M	0.68317	2.08	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.73817	-0.3863	9	0.87932	D	0	.	20.3046	0.98621	0.0:1.0:0.0:0.0	.	6630;6755;6822;14054	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	13127;6630;6822;6755;6630	ENSP00000343764:E13127Q;ENSP00000434586:E6630Q;ENSP00000340554:E6822Q;ENSP00000352154:E6755Q	ENSP00000340554:E6822Q	E	-	1	0	TTN	179191347	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	2.878000	0.98634	0.650000	0.86243	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	76	0.00	0	C	NM_133378		179483102	179483102	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	G
UBR2	23304	genome.wustl.edu	37	6	42612060	42612060	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A28O-01A-11D-A228-09	TCGA-BH-A28O-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	671a3899-2c82-49eb-b26f-b22f94292694	6b7bf36b-da79-40b8-a79c-ea31e3bb84c0	g.chr6:42612060G>A	ENST00000372899.1	+	19	2464	c.2206G>A	c.(2206-2208)Gag>Aag	p.E736K	UBR2_ENST00000372901.1_Missense_Mutation_p.E736K|UBR2_ENST00000372883.3_Missense_Mutation_p.E240K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	736					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATTTAGTTCTGAGATTACCCA	0.363																																						dbGAP											0													120.0	120.0	120.0					6																	42612060		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2206G>A	6.37:g.42612060G>A	ENSP00000361990:p.Glu736Lys		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E736K	ENST00000372899.1	37	c.2206	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147304	0.37923	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.41758	0.99;0.99;0.99	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	N	0.16656	0.425	0.80722	D	1	P;B;D	0.63046	0.649;0.002;0.992	B;B;D	0.74674	0.311;0.004;0.984	T	0.15954	-1.0419	10	0.25751	T	0.34	-25.0072	20.6397	0.99537	0.0:0.0:1.0:0.0	.	736;736;240	Q8IWV8-4;Q8IWV8;Q8IWV8-3	.;UBR2_HUMAN;.	K	736;736;240	ENSP00000361990:E736K;ENSP00000361992:E736K;ENSP00000361974:E240K	ENSP00000361974:E240K	E	+	1	0	UBR2	42720038	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.408000	0.90221	2.880000	0.98712	0.650000	0.86243	GAG	UBR2	-	NULL	ENSG00000024048		0.363	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	64	0.00	0	G	NM_015255		42612060	42612060	+1	no_errors	ENST00000372899	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	A
