#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
AATK	9625	genome.wustl.edu	37	17	79108182	79108182	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:79108182C>T	ENST00000326724.4	-	2	199	c.175G>A	c.(175-177)Ggt>Agt	p.G59S	MIR1250_ENST00000408098.1_RNA|AATK_ENST00000417379.1_5'Flank|RP11-149I9.2_ENST00000570413.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	59				MLACLCCKKGGIGFK -> HQVKVQGCWGRWRWQ (in Ref. 2). {ECO:0000305}.	brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AACCCGATACCGCCCTTCTTA	0.652																																						dbGAP											0													35.0	39.0	38.0					17																	79108182		1566	3579	5145	-	-	-	SO:0001583	missense	0			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.175G>A	17.37:g.79108182C>T	ENSP00000324196:p.Gly59Ser		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G59S	ENST00000326724.4	37	c.175	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879859	0.33162	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.76448	-1.02;-0.94	3.81	0.427	0.16489	.	0.441675	0.18256	U	0.146781	T	0.58366	0.2117	N	0.19112	0.55	0.24087	N	0.995921	B	0.21071	0.051	B	0.08055	0.003	T	0.41574	-0.9501	10	0.22706	T	0.39	.	9.7316	0.40363	0.0:0.7113:0.0:0.2887	.	59	Q6ZMQ8	LMTK1_HUMAN	S	59	ENSP00000324196:G59S;ENSP00000363924:G59S	ENSP00000324196:G59S	G	-	1	0	AATK	76722777	0.000000	0.05858	0.901000	0.35422	0.912000	0.54170	0.089000	0.15002	0.296000	0.22592	-0.459000	0.05422	GGT	AATK	-	NULL	ENSG00000181409		0.652	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	17	0.00	0	C	NM_004920		79108182	79108182	-1	no_errors	ENST00000326724	ensembl	human	known	69_37n	missense	17	39.29	11	SNP	0.079	T
ABCA7	10347	genome.wustl.edu	37	19	1058728	1058728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:1058728delG	ENST00000263094.6	+	38	5492	c.5261delG	c.(5260-5262)cgafs	p.R1754fs	ABCA7_ENST00000433129.1_Frame_Shift_Del_p.R1754fs|ABCA7_ENST00000435683.2_Frame_Shift_Del_p.R1616fs	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1754					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.R1754L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCAGCACCGAAGCCAACTC	0.587																																						dbGAP											1	Substitution - Missense(1)	lung(1)											77.0	80.0	79.0					19																	1058728		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5261delG	19.37:g.1058728delG	ENSP00000263094:p.Arg1754fs		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1754fs	ENST00000263094.6	37	c.5261	CCDS12055.1	19																																																																																			ABCA7	-	NULL	ENSG00000064687		0.587	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	80	0.00	0	G	NM_019112		1058728	1058728	+1	no_errors	ENST00000263094	ensembl	human	known	69_37n	frame_shift_del	70	17.44	15	DEL	0.936	-
ABCB5	340273	genome.wustl.edu	37	7	20668355	20668355	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:20668355T>C	ENST00000404938.2	+	4	805	c.153T>C	c.(151-153)ggT>ggC	p.G51G		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	51	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGATCCTGGGTATACTGGCAT	0.443																																						dbGAP											0													153.0	128.0	135.0					7																	20668355		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.153T>C	7.37:g.20668355T>C			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.G51	ENST00000404938.2	37	c.153	CCDS55090.1	7																																																																																			ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000004846		0.443	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	159	0.62	1	T	NM_178559		20668355	20668355	+1	no_errors	ENST00000404938	ensembl	human	putative	69_37n	silent	171	16.50	34	SNP	0.982	C
ABCC10	89845	genome.wustl.edu	37	6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:43403588C>T	ENST00000372530.4	+	5	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTCCTTGGACCGGATCCAGCT	0.567																																						dbGAP											0													114.0	102.0	106.0					6																	43403588		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1708C>T	6.37:g.43403588C>T	ENSP00000361608:p.Arg570Trp		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R570W	ENST00000372530.4	37	c.1708	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392994	0.83011	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97279	-4.32;-3.98;-3.98	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.99111	0.9694	H	0.97051	3.93	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99331	1.0909	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:1.0:0.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	126;570;527	ENSP00000361593:R126W;ENSP00000361608:R570W;ENSP00000244533:R527W	ENSP00000244533:R527W	R	+	1	2	ABCC10	43511566	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.776000	0.55356	2.492000	0.84095	0.462000	0.41574	CGG	ABCC10	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000124574		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	104	0.00	0	C	NM_033450		43403588	43403588	+1	no_errors	ENST00000372530	ensembl	human	known	69_37n	missense	161	15.26	29	SNP	1.000	T
ABHD6	57406	genome.wustl.edu	37	3	58279470	58279472	+	In_Frame_Del	DEL	ACA	ACA	-	rs146742146		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	ACA	ACA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:58279470_58279472delACA	ENST00000478253.1	+	10	1493_1495	c.992_994delACA	c.(991-996)gacaac>gac	p.N333del	ABHD6_ENST00000295962.4_In_Frame_Del_p.N333del			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	333					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CACAACACAGACAACAACAAGAA	0.532																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.992_994delACA	3.37:g.58279476_58279478delACA	ENSP00000420315:p.Asn333del		B2R7Y9|Q6ZMF7	In_Frame_Del	DEL	pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.N333in_frame_del	ENST00000478253.1	37	c.992_994	CCDS2887.1	3																																																																																			ABHD6	-	NULL	ENSG00000163686		0.532	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD6	HGNC	protein_coding	OTTHUMT00000353511.1	36	0.00	0	ACA	NM_020676		58279470	58279472	+1	no_errors	ENST00000295962	ensembl	human	known	69_37n	in_frame_del	29	29.27	12	DEL	1.000:1.000:1.000	-
ABL2	27	genome.wustl.edu	37	1	179077894	179077894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:179077894delT	ENST00000502732.1	-	12	2711	c.2508delA	c.(2506-2508)aaafs	p.K836fs	ABL2_ENST00000507173.1_Frame_Shift_Del_p.K712fs|ABL2_ENST00000344730.3_Frame_Shift_Del_p.K718fs|ABL2_ENST00000408940.3_Frame_Shift_Del_p.K800fs|ABL2_ENST00000367623.4_Frame_Shift_Del_p.K815fs|ABL2_ENST00000512653.1_Frame_Shift_Del_p.K821fs|ABL2_ENST00000511413.1_Frame_Shift_Del_p.K733fs|ABL2_ENST00000504405.1_Frame_Shift_Del_p.K697fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	836	F-actin-binding. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.K800fs*34(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTCCTCTGATTTTTTTGGAA	0.522			T	ETV6	AML																																	dbGAP		Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	1	Deletion - Frameshift(1)	ovary(1)											78.0	78.0	78.0					1																	179077894		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2508delA	1.37:g.179077894delT	ENSP00000427562:p.Lys836fs		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.K836fs	ENST00000502732.1	37	c.2508	CCDS30947.1	1																																																																																			ABL2	-	NULL	ENSG00000143322		0.522	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABL2	HGNC	protein_coding	OTTHUMT00000085174.3	46	0.00	0	T	NM_005158		179077894	179077894	-1	no_errors	ENST00000502732	ensembl	human	known	69_37n	frame_shift_del	60	13.89	10	DEL	1.000	-
ABR	29	genome.wustl.edu	37	17	1028679	1028679	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:1028679A>G	ENST00000302538.5	-	2	231	c.85T>C	c.(85-87)Tac>Cac	p.Y29H	ABR_ENST00000574437.1_5'UTR|ABR_ENST00000544583.2_5'UTR	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	29					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCTCCGTCGTACTCGTCCGTC	0.627																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	dbGAP											0													112.0	102.0	106.0					17																	1028679		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.85T>C	17.37:g.1028679A>G	ENSP00000303909:p.Tyr29His		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.Y29H	ENST00000302538.5	37	c.85	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	A	19.52	3.843060	0.71488	.	.	ENSG00000159842	ENST00000302538	T	0.21734	1.99	5.46	5.46	0.80206	.	0.063724	0.64402	D	0.000004	T	0.30355	0.0762	L	0.40543	1.245	0.80722	D	1	D	0.61697	0.99	P	0.56398	0.797	T	0.01416	-1.1360	10	0.34782	T	0.22	.	13.5022	0.61462	1.0:0.0:0.0:0.0	.	29	Q12979	ABR_HUMAN	H	29	ENSP00000303909:Y29H	ENSP00000303909:Y29H	Y	-	1	0	ABR	975429	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	8.043000	0.89432	2.076000	0.62316	0.459000	0.35465	TAC	ABR	-	NULL	ENSG00000159842		0.627	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	44	0.00	0	A			1028679	1028679	-1	no_errors	ENST00000302538	ensembl	human	known	69_37n	missense	31	13.89	5	SNP	1.000	G
ACBD3	64746	genome.wustl.edu	37	1	226352491	226352491	+	Splice_Site	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:226352491delT	ENST00000366812.5	-	3	622	c.568delA	c.(568-570)agg>gg	p.R190fs		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	190	Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		AAACTTCACCTTTTTTTTTCT	0.413																																						dbGAP											0													170.0	131.0	144.0					1																	226352491		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.569+1A>-	1.37:g.226352491delT			B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Frame_Shift_Del	DEL	pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD	p.R190fs	ENST00000366812.5	37	c.568	CCDS1551.1	1																																																																																			ACBD3	-	NULL	ENSG00000182827		0.413	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACBD3	HGNC	protein_coding	OTTHUMT00000091528.1	150	0.66	1	T	NM_022735	Frame_Shift_Del	226352491	226352491	-1	no_errors	ENST00000366812	ensembl	human	known	69_37n	frame_shift_del	207	11.11	26	DEL	1.000	-
ACTN4	81	genome.wustl.edu	37	19	39217680	39217680	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:39217680C>T	ENST00000252699.2	+	18	2350	c.2274C>T	c.(2272-2274)gaC>gaT	p.D758D	ACTN4_ENST00000390009.3_Silent_p.D539D|ACTN4_ENST00000424234.2_Silent_p.D368D	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	758	Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACCCGCGACGCCAAGGGCA	0.652																																					Colon(168;199 1940 10254 46213 46384)	dbGAP											0													119.0	91.0	101.0					19																	39217680		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2274C>T	19.37:g.39217680C>T			A4K467|D6PXK4|O76048	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.D758	ENST00000252699.2	37	c.2274	CCDS12518.1	19																																																																																			ACTN4	-	NULL	ENSG00000130402		0.652	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	56	0.00	0	C			39217680	39217680	+1	no_errors	ENST00000252699	ensembl	human	known	69_37n	silent	57	10.94	7	SNP	0.992	T
ADAMTS13	11093	genome.wustl.edu	37	9	136315031	136315031	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:136315031G>T	ENST00000371929.3	+	23	3433	c.2989G>T	c.(2989-2991)Ggg>Tgg	p.G997W	ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.G997W|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.G966W	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	997	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCAGTGCCAGGGGCTGCCTCG	0.672																																						dbGAP											0													49.0	54.0	52.0					9																	136315031		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2989G>T	9.37:g.136315031G>T	ENSP00000360997:p.Gly997Trp		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G997W	ENST00000371929.3	37	c.2989	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895440	0.52121	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.64438	-0.1;-0.1;-0.1	4.24	3.34	0.38264	.	.	.	.	.	T	0.73644	0.3613	M	0.79011	2.435	0.44562	D	0.997523	D;D;D	0.71674	0.998;0.995;0.995	D;D;D	0.70487	0.969;0.924;0.948	T	0.70799	-0.4774	9	0.38643	T	0.18	.	6.6681	0.23054	0.1021:0.304:0.594:0.0	.	997;966;997	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	W	997;997;966	ENSP00000360997:G997W;ENSP00000347927:G997W;ENSP00000348997:G966W	ENSP00000347927:G997W	G	+	1	0	ADAMTS13	135304852	0.938000	0.31826	0.988000	0.46212	0.915000	0.54546	1.437000	0.34991	0.782000	0.33613	0.555000	0.69702	GGG	ADAMTS13	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000160323		0.672	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	51	0.00	0	G	NM_139025		136315031	136315031	+1	no_errors	ENST00000371929	ensembl	human	known	69_37n	missense	62	23.46	19	SNP	0.715	T
ADAMTSL4	54507	genome.wustl.edu	37	1	150531819	150531819	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:150531819A>T	ENST00000369038.2	+	15	3021	c.2820A>T	c.(2818-2820)aaA>aaT	p.K940N	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.K963N|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.K940N			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	940	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTGTATCCAAACTGGGGACGG	0.612											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													125.0	93.0	103.0					1																	150531819		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2820A>T	1.37:g.150531819A>T	ENSP00000358034:p.Lys940Asn	1733	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.K963N	ENST00000369038.2	37	c.2889	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679648	0.68042	.	.	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.51817	0.69;0.69;0.69	5.52	0.385	0.16249	.	.	.	.	.	T	0.40322	0.1112	L	0.35854	1.095	0.36513	D	0.869734	D;P;D	0.89917	1.0;0.929;1.0	D;P;D	0.85130	0.997;0.8;0.995	T	0.34304	-0.9834	9	0.49607	T	0.09	.	8.5374	0.33371	0.5754:0.0:0.4246:0.0	.	901;963;940	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	N	940;963;940	ENSP00000271643:K940N;ENSP00000358035:K963N;ENSP00000358034:K940N	ENSP00000271643:K940N	K	+	3	2	ADAMTSL4	148798443	0.999000	0.42202	0.999000	0.59377	0.778000	0.44026	0.436000	0.21526	0.028000	0.15324	0.379000	0.24179	AAA	ADAMTSL4	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143382		0.612	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	42	0.00	0	A	NM_019032		150531819	150531819	+1	no_errors	ENST00000369039	ensembl	human	known	69_37n	missense	63	65.38	119	SNP	0.998	T
ADCY9	115	genome.wustl.edu	37	16	4016347	4016347	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:4016347C>T	ENST00000294016.3	-	11	4029	c.3491G>A	c.(3490-3492)cGc>cAc	p.R1164H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1164	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAAGCCGACGCGGAGCTTGAA	0.597																																						dbGAP											0													99.0	85.0	90.0					16																	4016347		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3491G>A	16.37:g.4016347C>T	ENSP00000294016:p.Arg1164His		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R1164H	ENST00000294016.3	37	c.3491	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879568	0.91740	.	.	ENSG00000162104	ENST00000294016	D	0.88124	-2.34	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96315	0.8798	H	0.97440	4.005	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.97340	0.9956	10	0.87932	D	0	.	19.7885	0.96447	0.0:1.0:0.0:0.0	.	1164	O60503	ADCY9_HUMAN	H	1164	ENSP00000294016:R1164H	ENSP00000294016:R1164H	R	-	2	0	ADCY9	3956348	1.000000	0.71417	0.468000	0.27192	0.963000	0.63663	7.776000	0.85560	2.752000	0.94435	0.655000	0.94253	CGC	ADCY9	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000162104		0.597	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	54	0.00	0	C			4016347	4016347	-1	no_errors	ENST00000294016	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	0.996	T
ADNP	23394	genome.wustl.edu	37	20	49508204	49508204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:49508204delT	ENST00000396029.3	-	5	3614	c.3047delA	c.(3046-3048)aagfs	p.K1016fs	ADNP_ENST00000349014.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000371602.4_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000396032.3_Frame_Shift_Del_p.K1016fs	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1016					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CATGGTAGCCTTTTTTTTGGC	0.458																																						dbGAP											0													106.0	100.0	102.0					20																	49508204		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.3047delA	20.37:g.49508204delT	ENSP00000379346:p.Lys1016fs		E1P5Y2|O94881|Q5BKU2|Q9UG34	Frame_Shift_Del	DEL	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.K1016fs	ENST00000396029.3	37	c.3047	CCDS13433.1	20																																																																																			ADNP	-	NULL	ENSG00000101126		0.458	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	81	0.00	0	T	NM_181442		49508204	49508204	-1	no_errors	ENST00000349014	ensembl	human	known	69_37n	frame_shift_del	87	12.12	12	DEL	1.000	-
ADPRHL1	113622	genome.wustl.edu	37	13	114107723	114107723	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:114107723C>T	ENST00000375418.3	-	1	116	c.30G>A	c.(28-30)ctG>ctA	p.L10L		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	10					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CGACGCTCCCCAGCAACATCG	0.597																																						dbGAP											0													74.0	71.0	72.0					13																	114107723		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.30G>A	13.37:g.114107723C>T			Q5JUG2|Q96GD1	Silent	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	p.L10	ENST00000375418.3	37	c.30	CCDS9535.1	13																																																																																			ADPRHL1	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	ENSG00000153531		0.597	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRHL1	HGNC	protein_coding	OTTHUMT00000045915.2	50	0.00	0	C	NM_138430		114107723	114107723	-1	no_errors	ENST00000375418	ensembl	human	known	69_37n	silent	51	30.67	23	SNP	1.000	T
AFMID	125061	genome.wustl.edu	37	17	76203068	76203068	+	Silent	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:76203068C>G	ENST00000591952.1	+	3	240	c.231C>G	c.(229-231)gcC>gcG	p.A77A	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_3'UTR|AFMID_ENST00000327898.5_3'UTR|AFMID_ENST00000409257.5_3'UTR					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CTTGGGAAGCCTCTCCAAAGA	0.517																																						dbGAP											0													62.0	61.0	61.0					17																	76203068		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000591952.1:c.231C>G	17.37:g.76203068C>G				Silent	SNP	NULL	p.A77	ENST00000591952.1	37	c.231		17																																																																																			AFMID	-	NULL	ENSG00000183077		0.517	AFMID-009	NOVEL	basic	protein_coding	AFMID	HGNC	protein_coding	OTTHUMT00000333211.1	132	0.00	0	C	XM_058889		76203068	76203068	+1	no_errors	ENST00000591952	ensembl	human	novel	69_37n	silent	83	47.80	76	SNP	0.000	G
AGTPBP1	23287	genome.wustl.edu	37	9	88200482	88200482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:88200482G>A	ENST00000357081.3	-	23	3205	c.3061C>T	c.(3061-3063)Cga>Tga	p.R1021*	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.R981*|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.R1033*			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1021					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTCTTCTTTCGGGAATGGCCA	0.323																																						dbGAP											0													147.0	127.0	134.0					9																	88200482		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3061C>T	9.37:g.88200482G>A	ENSP00000349592:p.Arg1021*		B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Nonsense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.R1033*	ENST00000357081.3	37	c.3097		9	.	.	.	.	.	.	.	.	.	.	G	42	9.371132	0.99151	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	.	.	.	5.42	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2839	15.3472	0.74346	0.0:0.0:0.8592:0.1408	.	.	.	.	X	1021;981;1033	.	ENSP00000349592:R1021X	R	-	1	2	AGTPBP1	87390302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.301000	0.59086	1.224000	0.43551	0.591000	0.81541	CGA	AGTPBP1	-	pfam_Peptidase_M14	ENSG00000135049		0.323	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	84	0.00	0	G	NM_015239		88200482	88200482	-1	no_errors	ENST00000376109	ensembl	human	known	69_37n	nonsense	74	17.78	16	SNP	1.000	A
AGTR1	185	genome.wustl.edu	37	3	148459202	148459202	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:148459202A>G	ENST00000497524.1	+	2	771	c.380A>G	c.(379-381)tAc>tGc	p.Y127C	AGTR1_ENST00000542281.1_Missense_Mutation_p.Y127C|AGTR1_ENST00000402260.1_Missense_Mutation_p.Y127C|AGTR1_ENST00000404754.2_Missense_Mutation_p.Y127C|AGTR1_ENST00000349243.3_Missense_Mutation_p.Y127C|AGTR1_ENST00000418473.2_Missense_Mutation_p.Y127C|AGTR1_ENST00000461609.1_Missense_Mutation_p.Y127C|AGTR1_ENST00000475347.1_Missense_Mutation_p.Y127C|AGTR1_ENST00000474935.1_Missense_Mutation_p.Y127C	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	127					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATTGATCGATACCTGGCTATT	0.498																																						dbGAP											0													133.0	127.0	129.0					3																	148459202		2203	4300	6503	-	-	-	SO:0001583	missense	0			M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.380A>G	3.37:g.148459202A>G	ENSP00000419422:p.Tyr127Cys		Q13725|Q8TBK4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Frt_met_rcpt,prints_Brdyknn_rcpt,prints_P2_purnocptor	p.Y127C	ENST00000497524.1	37	c.380	CCDS3137.1	3	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957337	0.73902	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	D;D;D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94950	0.8099	10	0.87932	D	0	-12.7185	15.8327	0.78769	1.0:0.0:0.0:0.0	.	127	P30556	AGTR1_HUMAN	C	127	ENSP00000419422:Y127C;ENSP00000273430:Y127C;ENSP00000443186:Y127C;ENSP00000398832:Y127C;ENSP00000385612:Y127C;ENSP00000419783:Y127C;ENSP00000418084:Y127C;ENSP00000418851:Y127C;ENSP00000385641:Y127C	ENSP00000273430:Y127C	Y	+	2	0	AGTR1	149941892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.187000	0.94912	2.132000	0.65825	0.533000	0.62120	TAC	AGTR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_P2_purnocptor	ENSG00000144891		0.498	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGTR1	HGNC	protein_coding	OTTHUMT00000355807.1	37	0.00	0	A			148459202	148459202	+1	no_errors	ENST00000349243	ensembl	human	known	69_37n	missense	57	10.94	7	SNP	1.000	G
AHCTF1	25909	genome.wustl.edu	37	1	247050544	247050544	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:247050544C>G	ENST00000391829.2	-	20	2564	c.2441G>C	c.(2440-2442)gGg>gCg	p.G814A	AHCTF1_ENST00000366508.1_Missense_Mutation_p.G849A|AHCTF1_ENST00000326225.3_Missense_Mutation_p.G823A|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	814	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CAACCAAAACCCCTGAATAAG	0.323																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													145.0	158.0	154.0					1																	247050544		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2441G>C	1.37:g.247050544C>G	ENSP00000375705:p.Gly814Ala		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.G823A	ENST00000391829.2	37	c.2468		1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171268	0.38315	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.49720	0.77;0.77;0.77	5.34	4.43	0.53597	.	0.055856	0.64402	D	0.000001	T	0.59183	0.2175	L	0.47016	1.485	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.54029	-0.8354	10	0.19147	T	0.46	-17.726	14.3503	0.66697	0.0:0.9281:0.0:0.0719	.	849;814	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	A	849;823;814	ENSP00000355464:G849A;ENSP00000355465:G823A;ENSP00000375705:G814A	ENSP00000355465:G823A	G	-	2	0	AHCTF1	245117167	1.000000	0.71417	0.929000	0.37066	0.291000	0.27294	7.310000	0.78947	1.388000	0.46506	-0.145000	0.13849	GGG	AHCTF1	-	NULL	ENSG00000153207		0.323	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		212	0.00	0	C	NM_015446		247050544	247050544	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	missense	106	23.74	33	SNP	0.999	G
AIFM3	150209	genome.wustl.edu	37	22	21330779	21330779	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:21330779A>G	ENST00000399167.2	+	11	1222	c.982A>G	c.(982-984)Agg>Ggg	p.R328G	AIFM3_ENST00000399163.2_Missense_Mutation_p.R328G|AIFM3_ENST00000405089.1_Missense_Mutation_p.R334G|AIFM3_ENST00000440238.2_Missense_Mutation_p.R328G|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.R316G|AIFM3_ENST00000333607.6_Missense_Mutation_p.R328G	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	328					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCGCGTGGTGAGGCTGGCCCG	0.622																																						dbGAP											0													79.0	56.0	63.0					22																	21330779		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.982A>G	22.37:g.21330779A>G	ENSP00000382120:p.Arg328Gly		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2	p.R328G	ENST00000399167.2	37	c.982	CCDS13786.1	22	.	.	.	.	.	.	.	.	.	.	A	11.82	1.751744	0.31046	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	4.7	3.64	0.41730	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.295070	0.34133	N	0.004237	T	0.28234	0.0697	N	0.21142	0.635	0.35998	D	0.837196	B;B;B;B;B	0.31893	0.345;0.001;0.001;0.0;0.001	B;B;B;B;B	0.35278	0.199;0.01;0.004;0.004;0.006	T	0.22765	-1.0207	10	0.22706	T	0.39	-1.4092	9.4595	0.38776	0.8126:0.1874:0.0:0.0	.	316;316;334;328;328	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	G	328;328;334;316;328;328	ENSP00000382120:R328G;ENSP00000382116:R328G;ENSP00000385800:R334G;ENSP00000335369:R316G;ENSP00000390798:R328G;ENSP00000327671:R328G	ENSP00000327671:R328G	R	+	1	2	AIFM3	19660779	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.127000	0.42035	0.648000	0.30732	0.459000	0.35465	AGG	AIFM3	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000183773		0.622	AIFM3-002	KNOWN	basic|CCDS	protein_coding	AIFM3	HGNC	protein_coding	OTTHUMT00000320150.1	110	0.00	0	A	NM_144704		21330779	21330779	+1	no_errors	ENST00000399167	ensembl	human	known	69_37n	missense	79	32.48	38	SNP	1.000	G
AIM1	202	genome.wustl.edu	37	6	106968729	106968729	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:106968729A>G	ENST00000369066.3	+	2	2909	c.2422A>G	c.(2422-2424)Atg>Gtg	p.M808V		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)		GCCTCTGGTGATGCCGGAAAT	0.458																																						dbGAP											0													82.0	79.0	80.0					6																	106968729		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2422A>G	6.37:g.106968729A>G	ENSP00000358062:p.Met808Val		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.M808V	ENST00000369066.3	37	c.2422	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	A	1.755	-0.488336	0.04352	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.70516	-0.49	5.97	-10.3	0.00346	.	2.568910	0.01094	N	0.005251	T	0.16811	0.0404	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.09907	-1.0653	10	0.15952	T	0.53	.	3.2576	0.06837	0.2213:0.147:0.4345:0.1971	.	808	Q9Y4K1	AIM1_HUMAN	V	1216;808	ENSP00000358062:M808V	ENSP00000285105:M1216V	M	+	1	0	AIM1	107075422	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.649000	0.01993	-1.405000	0.02048	0.533000	0.62120	ATG	AIM1	-	NULL	ENSG00000112297		0.458	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	103	0.00	0	A			106968729	106968729	+1	no_errors	ENST00000369066	ensembl	human	known	69_37n	missense	49	60.16	74	SNP	0.000	G
AIM1	202	genome.wustl.edu	37	6	106968796	106968796	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:106968796delA	ENST00000369066.3	+	2	2976	c.2489delA	c.(2488-2490)gaafs	p.E830fs		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)		TCGAGACTAGAAAAAAGTGCA	0.423																																						dbGAP											0													86.0	84.0	85.0					6																	106968796		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			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.2489delA	6.37:g.106968796delA	ENSP00000358062:p.Glu830fs		Q6P2P0|Q9BTM3	Frame_Shift_Del	DEL	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.S832fs	ENST00000369066.3	37	c.2489	CCDS34506.1	6																																																																																			AIM1	-	NULL	ENSG00000112297		0.423	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	89	0.00	0	A			106968796	106968796	+1	no_errors	ENST00000369066	ensembl	human	known	69_37n	frame_shift_del	66	10.81	8	DEL	1.000	-
AIM2	9447	genome.wustl.edu	37	1	159035971	159035971	+	Missense_Mutation	SNP	G	G	T	rs375608638		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:159035971G>T	ENST00000368130.4	-	4	833	c.545C>A	c.(544-546)gCt>gAt	p.A182D	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	182	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CTTTTCTGTAGCCACTGTAGC	0.373																																						dbGAP											0													95.0	98.0	97.0					1																	159035971		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.545C>A	1.37:g.159035971G>T	ENSP00000357112:p.Ala182Asp		A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,superfamily_NA-bd_OB-fold-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.A182D	ENST00000368130.4	37	c.545	CCDS1181.1	1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063964	0.55432	.	.	ENSG00000163568	ENST00000368130;ENST00000368129	T;T	0.47869	0.83;0.83	3.47	3.47	0.39725	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.58293	0.2112	M	0.80616	2.505	0.30126	N	0.805248	D	0.89917	1.0	D	0.76071	0.987	T	0.53401	-0.8444	9	0.87932	D	0	-7.0087	10.6387	0.45579	0.0:0.0:1.0:0.0	.	182	O14862	AIM2_HUMAN	D	182;45	ENSP00000357112:A182D;ENSP00000357111:A45D	ENSP00000357111:A45D	A	-	2	0	AIM2	157302595	0.557000	0.26546	0.207000	0.23584	0.075000	0.17131	0.813000	0.27225	1.927000	0.55829	0.561000	0.74099	GCT	AIM2	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163568		0.373	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM2	HGNC	protein_coding	OTTHUMT00000090341.1	76	0.00	0	G	NM_004833		159035971	159035971	-1	no_errors	ENST00000368130	ensembl	human	known	69_37n	missense	88	14.56	15	SNP	0.660	T
AKAP4	8852	genome.wustl.edu	37	X	49957212	49957212	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:49957212C>A	ENST00000376056.2	-	5	2275	c.2125G>T	c.(2125-2127)Ggg>Tgg	p.G709W	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.G718W|AKAP4_ENST00000376064.3_Missense_Mutation_p.G709W|AKAP4_ENST00000376058.2_Missense_Mutation_p.G335W					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AGGGCTGCCCCATCGTTGCTA	0.478																																						dbGAP											0													99.0	77.0	85.0					X																	49957212		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2125G>T	X.37:g.49957212C>A	ENSP00000365224:p.Gly709Trp			Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.G718W	ENST00000376056.2	37	c.2152	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813803	0.32053	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.33865	2.64;1.39;2.64;2.64	4.6	4.6	0.57074	A-kinase anchor 110kDa, C-terminal (1);	0.117860	0.38111	N	0.001814	T	0.53351	0.1791	L	0.57536	1.79	0.34086	D	0.660147	D;D	0.89917	0.999;1.0	D;D	0.79108	0.99;0.992	T	0.65278	-0.6207	9	.	.	.	-2.0556	12.1104	0.53836	0.0:1.0:0.0:0.0	.	718;335	Q5JQC9;A6ND82	AKAP4_HUMAN;.	W	709;335;718;709	ENSP00000365224:G709W;ENSP00000365226:G335W;ENSP00000351327:G718W;ENSP00000365232:G709W	.	G	-	1	0	AKAP4	49843952	0.029000	0.19370	0.860000	0.33809	0.428000	0.31595	1.293000	0.33353	1.902000	0.55061	0.529000	0.55759	GGG	AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000147081		0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	99	0.00	0	C	NM_003886		49957212	49957212	-1	no_errors	ENST00000358526	ensembl	human	known	69_37n	missense	93	16.96	19	SNP	0.998	A
ALAS1	211	genome.wustl.edu	37	3	52238804	52238804	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:52238804C>G	ENST00000394965.2	+	6	1033	c.673C>G	c.(673-675)Cga>Gga	p.R225G	ALAS1_ENST00000310271.2_Missense_Mutation_p.R225G|ALAS1_ENST00000469224.1_Missense_Mutation_p.R225G|ALAS1_ENST00000484952.1_Missense_Mutation_p.R225G	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	225					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TGTGAACCGGCGAGCACACAT	0.413																																						dbGAP											0													96.0	92.0	93.0					3																	52238804		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.673C>G	3.37:g.52238804C>G	ENSP00000378416:p.Arg225Gly			Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.R225G	ENST00000394965.2	37	c.673	CCDS2847.1	3	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387686	0.25031	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	5.77	4.62	0.57501	Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.431874	0.26173	N	0.025905	D	0.88119	0.6351	L	0.38175	1.15	0.43355	D	0.995421	B;B	0.30584	0.286;0.286	B;B	0.27380	0.079;0.079	T	0.83287	-0.0035	10	0.22109	T	0.4	-10.2781	11.9862	0.53149	0.6788:0.3212:0.0:0.0	.	242;225	B4DVA0;P13196	.;HEM1_HUMAN	G	225	ENSP00000417719:R225G;ENSP00000378416:R225G;ENSP00000309259:R225G;ENSP00000418779:R225G	ENSP00000309259:R225G	R	+	1	2	ALAS1	52213844	0.970000	0.33590	0.811000	0.32455	0.849000	0.48306	2.935000	0.48963	0.996000	0.38943	-0.274000	0.10170	CGA	ALAS1	-	superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	ENSG00000023330		0.413	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS1	HGNC	protein_coding	OTTHUMT00000350207.1	127	0.00	0	C			52238804	52238804	+1	no_errors	ENST00000310271	ensembl	human	known	69_37n	missense	83	37.59	50	SNP	0.856	G
ALB	213	genome.wustl.edu	37	4	74270073	74270073	+	Missense_Mutation	SNP	T	T	A	rs11538209		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:74270073T>A	ENST00000295897.4	+	1	118	c.29T>A	c.(28-30)cTt>cAt	p.L10H	ALB_ENST00000509063.1_Missense_Mutation_p.L10H|ALB_ENST00000401494.3_Missense_Mutation_p.L10H|ALB_ENST00000415165.2_Missense_Mutation_p.L10H|ALB_ENST00000503124.1_5'UTR	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTCCCTTCTTTTTCTCTTT	0.403																																						dbGAP											0													135.0	128.0	131.0					4																	74270073		2203	4300	6503	-	-	-	SO:0001583	missense	0			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.29T>A	4.37:g.74270073T>A	ENSP00000295897:p.Leu10His		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Serum_albumin	p.L10H	ENST00000295897.4	37	c.29	CCDS3555.1	4	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847469	0.71603	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T	0.65178	0.18;-0.14;0.17;0.28	5.55	4.36	0.52297	.	0.450332	0.20666	N	0.087939	T	0.77177	0.4092	M	0.80847	2.515	0.21355	N	0.999713	D;D;D;D	0.76494	0.997;0.999;0.998;0.996	P;D;P;P	0.66979	0.785;0.948;0.906;0.867	T	0.69224	-0.5201	10	0.87932	D	0	-3.7515	10.7085	0.45969	0.0:0.0753:0.0:0.9247	.	10;10;10;10	B7WNR0;C9JKR2;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	H	10	ENSP00000295897:L10H;ENSP00000401820:L10H;ENSP00000422784:L10H;ENSP00000384695:L10H	ENSP00000295897:L10H	L	+	2	0	ALB	74488937	0.988000	0.35896	1.000000	0.80357	0.988000	0.76386	2.970000	0.49240	1.105000	0.41606	0.533000	0.62120	CTT	ALB	-	pirsf_Serum_albumin_subgr	ENSG00000163631		0.403	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALB	HGNC	protein_coding	OTTHUMT00000252173.3	250	0.00	0	T	NM_000477		74270073	74270073	+1	no_errors	ENST00000295897	ensembl	human	known	69_37n	missense	251	16.28	49	SNP	1.000	A
ALB	213	genome.wustl.edu	37	4	74285987	74285987	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:74285987C>T	ENST00000503124.1	+	12	1559	c.1352C>T	c.(1351-1353)gCt>gTt	p.A451V	ALB_ENST00000509063.1_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.A486V|ALB_ENST00000415165.2_Missense_Mutation_p.A409V|ALB_ENST00000295897.4_Missense_Mutation_p.A601V			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAACTTGTTGCTGCAAGTCAA	0.279																																						dbGAP											0													88.0	87.0	87.0					4																	74285987		2201	4300	6501	-	-	-	SO:0001583	missense	0			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1352C>T	4.37:g.74285987C>T	ENSP00000421027:p.Ala451Val		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Serum_albumin	p.A601V	ENST00000503124.1	37	c.1802		4	.	.	.	.	.	.	.	.	.	.	C	5.054	0.195585	0.09599	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000401494;ENST00000430202	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.54	1.47	0.22746	Serum albumin-like (1);Serum albumin, N-terminal (1);	.	.	.	.	T	0.30572	0.0769	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.17268	0.021;0.015;0.018;0.002	B;B;B;B	0.08055	0.002;0.003;0.003;0.001	T	0.17289	-1.0374	9	0.27785	T	0.31	40.023	6.3698	0.21475	0.4902:0.4197:0.0:0.0901	.	486;409;451;601	B7WNR0;C9JKR2;D6RHD5;P02768	.;.;.;ALBU_HUMAN	V	601;409;388;451;486;610	ENSP00000295897:A601V;ENSP00000401820:A409V;ENSP00000421027:A451V;ENSP00000384695:A486V	ENSP00000295897:A601V	A	+	2	0	ALB	74504851	0.013000	0.17824	0.014000	0.15608	0.129000	0.20672	-0.092000	0.11129	0.046000	0.15833	0.650000	0.86243	GCT	ALB	-	superfamily_Serum_albumin-like,pirsf_Serum_albumin_subgr	ENSG00000163631		0.279	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	ALB	HGNC	protein_coding	OTTHUMT00000365419.1	163	0.00	0	C	NM_000477		74285987	74285987	+1	no_errors	ENST00000295897	ensembl	human	known	69_37n	missense	165	15.38	30	SNP	0.100	T
ALG12	79087	genome.wustl.edu	37	22	50301580	50301580	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:50301580G>A	ENST00000330817.6	-	7	1054	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	261					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		AAGTACCACAGCAGCGGGGAG	0.657																																						dbGAP											0													43.0	49.0	47.0					22																	50301580		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.781C>T	22.37:g.50301580G>A			A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Silent	SNP	pfam_GPI_mannosylTrfase	p.L261	ENST00000330817.6	37	c.781	CCDS14081.1	22																																																																																			ALG12	-	pfam_GPI_mannosylTrfase	ENSG00000182858		0.657	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG12	HGNC	protein_coding	OTTHUMT00000317405.2	30	0.00	0	G	NM_024105		50301580	50301580	-1	no_errors	ENST00000330817	ensembl	human	known	69_37n	silent	49	19.67	12	SNP	0.997	A
ALMS1	7840	genome.wustl.edu	37	2	73679886	73679886	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:73679886C>T	ENST00000264448.6	+	8	6340	c.6229C>T	c.(6229-6231)Cct>Tct	p.P2077S	ALMS1_ENST00000377715.1_Missense_Mutation_p.P2077S|ALMS1_ENST00000409009.1_Missense_Mutation_p.P2035S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2077	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTCAGCTGTCCCTGAACTAAC	0.363																																						dbGAP											0													41.0	41.0	41.0					2																	73679886		1823	4061	5884	-	-	-	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6229C>T	2.37:g.73679886C>T	ENSP00000264448:p.Pro2077Ser		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.P2077S	ENST00000264448.6	37	c.6229	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.323251	0.00232	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.13538	3.51;3.51;2.58	4.59	0.747	0.18371	.	0.443658	0.19455	N	0.113835	T	0.04770	0.0129	N	0.12961	0.28	0.09310	N	1	B;P;P	0.39601	0.335;0.545;0.68	B;B;B	0.33521	0.136;0.165;0.165	T	0.34625	-0.9821	10	0.10111	T	0.7	.	4.0379	0.09738	0.0:0.5291:0.1747:0.2962	.	2077;2035;2077	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	2035;2077;2077	ENSP00000386627:P2035S;ENSP00000264448:P2077S;ENSP00000366944:P2077S	ENSP00000264448:P2077S	P	+	1	0	ALMS1	73533394	0.003000	0.15002	0.005000	0.12908	0.097000	0.18754	-0.267000	0.08619	0.122000	0.18314	0.650000	0.86243	CCT	ALMS1	-	NULL	ENSG00000116127		0.363	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	17	0.00	0	C	NM_015120		73679886	73679886	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	0.007	T
ALPK1	80216	genome.wustl.edu	37	4	113362145	113362145	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:113362145T>G	ENST00000458497.1	+	15	3890	c.3611T>G	c.(3610-3612)gTt>gGt	p.V1204G	ALPK1_ENST00000504176.2_Missense_Mutation_p.V1126G|ALPK1_ENST00000177648.9_Missense_Mutation_p.V1204G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1204	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GATCAGAAAGTTTTCACTACC	0.388																																						dbGAP											0													111.0	116.0	115.0					4																	113362145		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3611T>G	4.37:g.113362145T>G	ENSP00000398048:p.Val1204Gly		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.V1204G	ENST00000458497.1	37	c.3611	CCDS3697.1	4	.	.	.	.	.	.	.	.	.	.	T	8.375	0.836150	0.16891	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.06687	3.27;3.27;3.27	5.83	0.496	0.16896	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.828263	0.11619	N	0.545966	T	0.01695	0.0054	N	0.00300	-1.685	0.23720	N	0.997021	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.04013	0.001;0.0;0.001	T	0.45614	-0.9249	10	0.20046	T	0.44	-1.3724	2.8407	0.05528	0.3735:0.3274:0.0647:0.2344	.	1126;1126;1204	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	G	1204;1204;1126	ENSP00000398048:V1204G;ENSP00000177648:V1204G;ENSP00000426044:V1126G	ENSP00000177648:V1204G	V	+	2	0	ALPK1	113581594	0.356000	0.24930	0.000000	0.03702	0.901000	0.52897	0.765000	0.26546	-0.101000	0.12219	-0.277000	0.10078	GTT	ALPK1	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000073331		0.388	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	92	0.00	0	T	NM_025144		113362145	113362145	+1	no_errors	ENST00000177648	ensembl	human	known	69_37n	missense	61	24.69	20	SNP	0.029	G
AMN1	196394	genome.wustl.edu	37	12	31850719	31850719	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:31850719T>C	ENST00000281471.6	-	4	654	c.489A>G	c.(487-489)ggA>ggG	p.G163G	AMN1_ENST00000542781.1_5'UTR|AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000536761.1_Silent_p.G145G|AMN1_ENST00000537562.1_Silent_p.G145G	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	163										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			GGCAGTTTTTTCCTAATGCAT	0.388																																						dbGAP											0													114.0	107.0	109.0					12																	31850719		1903	4135	6038	-	-	-	SO:0001819	synonymous_variant	0				CCDS44858.1, CCDS61089.1	12p11.21	2010-07-19			ENSG00000151743	ENSG00000151743			27281	protein-coding gene	gene with protein product							Standard	NM_001113402		Approved		uc001rkq.4	Q8IY45	OTTHUMG00000169192	ENST00000281471.6:c.489A>G	12.37:g.31850719T>C			B7Z7J3|Q6NVU4|Q86X98	Silent	SNP	smart_Leu-rich_rpt_Cys-con_subtyp	p.G163	ENST00000281471.6	37	c.489	CCDS44858.1	12																																																																																			AMN1	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000151743		0.388	AMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMN1	HGNC	protein_coding	OTTHUMT00000402807.2	112	0.00	0	T	NR_004854		31850719	31850719	-1	no_errors	ENST00000281471	ensembl	human	known	69_37n	silent	106	18.46	24	SNP	0.784	C
AMHR2	269	genome.wustl.edu	37	12	53818998	53818998	+	Silent	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:53818998C>G	ENST00000257863.4	+	4	554	c.474C>G	c.(472-474)ctC>ctG	p.L158L	AMHR2_ENST00000379791.3_Silent_p.L158L|AMHR2_ENST00000550311.1_Silent_p.L158L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	158					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.L158L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TCCTCCTCCTCCTGCTGCTGC	0.582																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											185.0	142.0	157.0					12																	53818998		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.474C>G	12.37:g.53818998C>G			A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	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,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom	p.L158	ENST00000257863.4	37	c.474	CCDS8858.1	12																																																																																			AMHR2	-	pirsf_Anti-muellerian_hrmn_rcpt_II	ENSG00000135409		0.582	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	HGNC	protein_coding	OTTHUMT00000407048.1	104	0.95	1	C	NM_020547		53818998	53818998	+1	no_errors	ENST00000257863	ensembl	human	known	69_37n	silent	92	12.96	14	SNP	0.063	G
ANAPC2	29882	genome.wustl.edu	37	9	140082004	140082004	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:140082004C>T	ENST00000323927.2	-	2	673	c.669G>A	c.(667-669)ggG>ggA	p.G223G	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	223					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CACTGCTGCACCCTGCACACA	0.642																																						dbGAP											0													88.0	83.0	85.0					9																	140082004		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.669G>A	9.37:g.140082004C>T			Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.G223	ENST00000323927.2	37	c.669	CCDS7033.1	9																																																																																			ANAPC2	-	NULL	ENSG00000176248		0.642	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	69	0.00	0	C	NM_013366		140082004	140082004	-1	no_errors	ENST00000323927	ensembl	human	known	69_37n	silent	52	26.76	19	SNP	0.812	T
ANAPC4	29945	genome.wustl.edu	37	4	25390191	25390191	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:25390191delA	ENST00000315368.3	+	5	580	c.438delA	c.(436-438)ccafs	p.P146fs	ANAPC4_ENST00000510092.1_Frame_Shift_Del_p.P146fs	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CTACACTGCCAAAAAAGTATG	0.294																																						dbGAP											0													106.0	119.0	115.0					4																	25390191		2203	4294	6497	-	-	-	SO:0001589	frameshift_variant	0			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.438delA	4.37:g.25390191delA	ENSP00000318775:p.Pro146fs		A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Frame_Shift_Del	DEL	superfamily_WD40_repeat_dom,pirsf_APC4_metazoa	p.N148fs	ENST00000315368.3	37	c.438	CCDS3434.1	4																																																																																			ANAPC4	-	superfamily_WD40_repeat_dom,pirsf_APC4_metazoa	ENSG00000053900		0.294	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC4	HGNC	protein_coding	OTTHUMT00000214986.1	172	0.00	0	A	NM_013367		25390191	25390191	+1	no_errors	ENST00000510092	ensembl	human	known	69_37n	frame_shift_del	97	17.65	21	DEL	0.985	-
ANAPC5	51433	genome.wustl.edu	37	12	121785621	121785621	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:121785621T>C	ENST00000261819.3	-	2	392	c.271A>G	c.(271-273)Aat>Gat	p.N91D	ANAPC5_ENST00000344395.4_5'Flank|ANAPC5_ENST00000541887.1_Missense_Mutation_p.N91D|ANAPC5_ENST00000441917.2_5'UTR|ANAPC5_ENST00000536366.1_5'Flank	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCACTGAATTTGCCAGCTGT	0.353																																						dbGAP											0													112.0	106.0	108.0					12																	121785621		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.271A>G	12.37:g.121785621T>C	ENSP00000261819:p.Asn91Asp		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	smart_TPR_repeat	p.N91D	ENST00000261819.3	37	c.271	CCDS9220.1	12	.	.	.	.	.	.	.	.	.	.	T	9.790	1.177744	0.21787	.	.	ENSG00000089053	ENST00000541887;ENST00000261819;ENST00000539871	T;T;T	0.46063	0.88;0.88;0.88	5.61	5.61	0.85477	.	0.192948	0.53938	D	0.000059	T	0.28863	0.0716	L	0.29908	0.895	0.80722	D	1	B	0.23937	0.094	B	0.19666	0.026	T	0.11036	-1.0604	10	0.17369	T	0.5	.	10.4913	0.44752	0.0:0.0817:0.0:0.9183	.	91	Q9UJX4	APC5_HUMAN	D	91;91;139	ENSP00000439875:N91D;ENSP00000261819:N91D;ENSP00000445191:N139D	ENSP00000261819:N91D	N	-	1	0	ANAPC5	120270004	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.993000	0.40747	2.140000	0.66376	0.402000	0.26972	AAT	ANAPC5	-	NULL	ENSG00000089053		0.353	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	HGNC	protein_coding	OTTHUMT00000402582.1	185	0.00	0	T			121785621	121785621	-1	no_errors	ENST00000261819	ensembl	human	known	69_37n	missense	137	24.73	45	SNP	1.000	C
ANGPT2	285	genome.wustl.edu	37	8	6378767	6378767	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:6378767A>G	ENST00000325203.5	-	4	1205	c.731T>C	c.(730-732)cTt>cCt	p.L244P	ANGPT2_ENST00000415216.1_Missense_Mutation_p.L244P|ANGPT2_ENST00000338312.6_Missense_Mutation_p.L192P|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Missense_Mutation_p.L244P			O15123	ANGP2_HUMAN	angiopoietin 2	244					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CTGCTTCTGAAGAACTGAATT	0.363																																						dbGAP											0													159.0	151.0	154.0					8																	6378767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.731T>C	8.37:g.6378767A>G	ENSP00000314897:p.Leu244Pro		A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.L244P	ENST00000325203.5	37	c.731	CCDS5958.1	8	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735912	0.69189	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	T;T;T;T	0.59083	0.31;0.29;0.43;0.95	5.91	5.91	0.95273	.	0.065956	0.64402	D	0.000006	T	0.77164	0.4090	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.993;0.997;0.993	T	0.78365	-0.2232	10	0.42905	T	0.14	.	14.3004	0.66346	1.0:0.0:0.0:0.0	.	192;244;244;244	O15123-2;E7EVQ3;O15123-3;O15123	.;.;.;ANGP2_HUMAN	P	244;244;192;244	ENSP00000314897:L244P;ENSP00000400782:L244P;ENSP00000343517:L192P;ENSP00000428023:L244P	ENSP00000314897:L244P	L	-	2	0	ANGPT2	6366175	1.000000	0.71417	0.236000	0.24074	0.739000	0.42172	8.627000	0.90974	2.254000	0.74563	0.533000	0.62120	CTT	ANGPT2	-	NULL	ENSG00000091879		0.363	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANGPT2	HGNC	protein_coding	OTTHUMT00000206737.1	151	0.00	0	A	NM_001147		6378767	6378767	-1	no_errors	ENST00000325203	ensembl	human	known	69_37n	missense	97	20.49	25	SNP	0.928	G
ANK1	286	genome.wustl.edu	37	8	41552707	41552707	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:41552707C>T	ENST00000347528.4	-	27	3186	c.3103G>A	c.(3103-3105)Ggg>Agg	p.G1035R	ANK1_ENST00000289734.7_Missense_Mutation_p.G1035R|ANK1_ENST00000396942.1_Missense_Mutation_p.G1035R|ANK1_ENST00000352337.4_Missense_Mutation_p.G1035R|ANK1_ENST00000396945.1_Missense_Mutation_p.G1035R|ANK1_ENST00000265709.8_Missense_Mutation_p.G1076R|ANK1_ENST00000379758.2_Missense_Mutation_p.G1035R	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1035	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G1076W(1)|p.G1035W(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCGTCCATCCCGTTGAGGATC	0.607																																						dbGAP											2	Substitution - Missense(2)	lung(2)											147.0	148.0	148.0					8																	41552707		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3103G>A	8.37:g.41552707C>T	ENSP00000339620:p.Gly1035Arg		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G1035R	ENST00000347528.4	37	c.3103	CCDS6119.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001028|4.001028	0.74818|0.74818	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299	T;T;T;T;T;T;T|.	0.67345|.	-0.24;-0.24;-0.21;-0.2;-0.22;-0.2;-0.26|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72187|0.72187	0.3429|0.3429	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;0.996;0.985;1.0;0.984|.	T|T	0.70124|0.70124	-0.4958|-0.4958	10|5	0.72032|.	D|.	0.01|.	.|.	18.7155|18.7155	0.91673|0.91673	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1076;1035;1035;1035;1035;351|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	R|Q	1035;1035;1035;1035;1035;1035;1076;1035|356	ENSP00000339620:G1035R;ENSP00000289734:G1035R;ENSP00000369082:G1035R;ENSP00000380149:G1035R;ENSP00000380147:G1035R;ENSP00000309131:G1035R;ENSP00000265709:G1076R|.	ENSP00000265709:G1076R|.	G|R	-|-	1|2	0|0	ANK1|ANK1	41671864|41671864	1.000000|1.000000	0.71417|0.71417	0.852000|0.852000	0.33557|0.33557	0.314000|0.314000	0.28054|0.28054	7.818000|7.818000	0.86416|0.86416	2.407000|2.407000	0.81776|0.81776	0.563000|0.563000	0.77884|0.77884	GGG|CGG	ANK1	-	NULL	ENSG00000029534		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	42	0.00	0	C	NM_020475		41552707	41552707	-1	no_errors	ENST00000396942	ensembl	human	known	69_37n	missense	44	21.43	12	SNP	1.000	T
ANK2	287	genome.wustl.edu	37	4	114278752	114278752	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:114278752T>G	ENST00000357077.4	+	38	9031	c.8978T>G	c.(8977-8979)aTa>aGa	p.I2993R	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.I2960R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2993					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGCCAGGACATAAAAATGGAA	0.423																																						dbGAP											0													120.0	119.0	119.0					4																	114278752		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8978T>G	4.37:g.114278752T>G	ENSP00000349588:p.Ile2993Arg		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.I2993R	ENST00000357077.4	37	c.8978	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	T	10.95	1.495933	0.26774	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96200	-0.24;-0.26;-3.94	5.2	5.2	0.72013	.	0.747981	0.12044	N	0.504807	D	0.88808	0.6537	N	0.08118	0	0.34148	D	0.667148	B;B	0.21381	0.055;0.045	B;B	0.25614	0.029;0.062	D	0.86116	0.1565	10	0.18710	T	0.47	.	11.2673	0.49118	0.0:0.0:0.1525:0.8475	.	2960;2993	Q01484;Q01484-4	ANK2_HUMAN;.	R	2993;2960;3	ENSP00000349588:I2993R;ENSP00000264366:I2960R;ENSP00000422498:I3R	ENSP00000264366:I2960R	I	+	2	0	ANK2	114498201	0.765000	0.28485	0.003000	0.11579	0.004000	0.04260	2.000000	0.40816	2.174000	0.68829	0.533000	0.62120	ATA	ANK2	-	NULL	ENSG00000145362		0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	58	0.00	0	T	NM_001148		114278752	114278752	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	0.008	G
ANKFN1	162282	genome.wustl.edu	37	17	54526454	54526454	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:54526454G>A	ENST00000318698.2	+	10	1158	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	ANKFN1_ENST00000566473.2_Missense_Mutation_p.D375N	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	375								p.D375H(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GAAAGACTATGACGACAGAGA	0.488																																						dbGAP											1	Substitution - Missense(1)	cervix(1)											102.0	101.0	101.0					17																	54526454		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1123G>A	17.37:g.54526454G>A	ENSP00000321627:p.Asp375Asn			Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.D375N	ENST00000318698.2	37	c.1123	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916979	0.52546	.	.	ENSG00000153930	ENST00000318698	T	0.31510	1.49	5.25	5.25	0.73442	Ankyrin repeat-containing domain (1);	0.140873	0.64402	D	0.000007	T	0.33904	0.0879	M	0.68593	2.085	0.48830	D	0.999713	P	0.50066	0.931	B	0.41571	0.36	T	0.29701	-1.0003	10	0.72032	D	0.01	-15.4421	12.6655	0.56840	0.086:0.0:0.914:0.0	.	375	Q8N957	ANKF1_HUMAN	N	375	ENSP00000321627:D375N	ENSP00000321627:D375N	D	+	1	0	ANKFN1	51881453	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.007000	0.76335	2.460000	0.83146	0.655000	0.94253	GAC	ANKFN1	-	NULL	ENSG00000153930		0.488	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	116	0.00	0	G	NM_153228		54526454	54526454	+1	no_errors	ENST00000318698	ensembl	human	known	69_37n	missense	91	41.67	65	SNP	1.000	A
ANKRD20A2	441430	genome.wustl.edu	37	9	42368614	42368614	+	Missense_Mutation	SNP	A	A	G	rs200348657	byFrequency	TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:42368614A>G	ENST00000377601.2	+	1	312	c.200A>G	c.(199-201)cAc>cGc	p.H67R	RP11-216M21.7_ENST00000450520.1_RNA	NM_001012421.1	NP_001012421.1	Q5SQ80	A20A2_HUMAN	ankyrin repeat domain 20 family, member A2	67										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GACAAGCAGCACAGGTAGCGG	0.741																																						dbGAP											0													10.0	10.0	10.0					9																	42368614		2122	4050	6172	-	-	-	SO:0001583	missense	0				CCDS35028.1	9p12	2013-01-10			ENSG00000183148	ENSG00000183148		"""Ankyrin repeat domain containing"""	31979	protein-coding gene	gene with protein product							Standard	XM_005272519		Approved			Q5SQ80	OTTHUMG00000058641	ENST00000377601.2:c.200A>G	9.37:g.42368614A>G	ENSP00000366826:p.His67Arg			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H67R	ENST00000377601.2	37	c.200	CCDS35028.1	9	.	.	.	.	.	.	.	.	.	.	A	12.45	1.941398	0.34283	.	.	ENSG00000183148	ENST00000377601	T	0.52057	0.68	1.23	1.23	0.21249	Ankyrin repeat-containing domain (8);	.	.	.	.	T	0.39253	0.1071	N	0.10664	0.02	0.09310	N	1	P;P	0.44877	0.845;0.65	P;P	0.59288	0.855;0.537	T	0.18023	-1.0350	9	0.46703	T	0.11	.	4.7373	0.12995	1.0:0.0:0.0:0.0	.	67;67	Q5CZ79;Q5SQ80	AN20B_HUMAN;A20A2_HUMAN	R	67	ENSP00000366826:H67R	ENSP00000366826:H67R	H	+	2	0	ANKRD20A2	42358610	0.240000	0.23847	0.163000	0.22734	0.016000	0.09150	0.524000	0.22940	0.836000	0.34901	0.102000	0.15555	CAC	ANKRD20A2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000183148		0.741	ANKRD20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A2	HGNC	protein_coding	OTTHUMT00000129794.1	22	0.00	0	A	NM_001012421		42368614	42368614	+1	no_errors	ENST00000377601	ensembl	human	known	69_37n	missense	51	19.05	12	SNP	0.207	G
ANKRD26	22852	genome.wustl.edu	37	10	27382293	27382293	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:27382293A>G	ENST00000376087.4	-	3	681	c.516T>C	c.(514-516)atT>atC	p.I172I	ANKRD26_ENST00000436985.2_Silent_p.I172I	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	172					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTTTGCTTCAATATTTGCAT	0.348																																						dbGAP											0													148.0	134.0	138.0					10																	27382293		1914	4148	6062	-	-	-	SO:0001819	synonymous_variant	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.516T>C	10.37:g.27382293A>G			A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I172	ENST00000376087.4	37	c.516	CCDS41499.1	10																																																																																			ANKRD26	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107890		0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	229	0.00	0	A			27382293	27382293	-1	no_errors	ENST00000436985	ensembl	human	known	69_37n	silent	193	19.58	47	SNP	0.011	G
ANKRD34B	340120	genome.wustl.edu	37	5	79855425	79855427	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:79855425_79855427delAAG	ENST00000338682.3	-	5	1084_1086	c.412_414delCTT	c.(412-414)cttdel	p.L138del		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	138						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L138F(1)|p.L138I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGCAAGCACTAAGAAGAACTTTC	0.429																																						dbGAP											2	Substitution - Missense(2)	urinary_tract(1)|NS(1)																																								-	-	-	SO:0001651	inframe_deletion	0				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.412_414delCTT	5.37:g.79855428_79855430delAAG	ENSP00000339802:p.Leu138del		B2RPH1|Q68D79	In_Frame_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L138in_frame_del	ENST00000338682.3	37	c.414_412	CCDS34194.1	5																																																																																			ANKRD34B	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000189127		0.429	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34B	HGNC	protein_coding	OTTHUMT00000369475.1	141	0.00	0	AAG	NM_001004441		79855425	79855427	-1	no_errors	ENST00000338682	ensembl	human	known	69_37n	in_frame_del	63	17.11	13	DEL	0.798:0.968:0.944	-
ANO4	121601	genome.wustl.edu	37	12	101437324	101437324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:101437324delG	ENST00000392977.3	+	13	1372	c.1162delG	c.(1162-1164)gtcfs	p.V388fs	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_Frame_Shift_Del_p.V353fs			Q32M45	ANO4_HUMAN	anoctamin 4	388					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAGTAAAGAAGTCTGCCAAGC	0.373										HNSCC(74;0.22)																												dbGAP											0													152.0	145.0	147.0					12																	101437324		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1162delG	12.37:g.101437324delG	ENSP00000376703:p.Val388fs		Q8NAJ0|Q8NB39|Q8NB53	Frame_Shift_Del	DEL	pfam_Anoctamin	p.V388fs	ENST00000392977.3	37	c.1162		12																																																																																			ANO4	-	pfam_Anoctamin	ENSG00000151572		0.373	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	149	0.00	0	G	NM_178826		101437324	101437324	+1	no_errors	ENST00000392977	ensembl	human	known	69_37n	frame_shift_del	136	13.04	21	DEL	1.000	-
AOC2	314	genome.wustl.edu	37	17	40997704	40997704	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:40997704C>A	ENST00000253799.3	+	1	1088	c.1061C>A	c.(1060-1062)gCc>gAc	p.A354D	AOC2_ENST00000452774.2_Missense_Mutation_p.A354D	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	354					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GAGCGAATAGCCTATGAAGTC	0.517																																						dbGAP											0													142.0	138.0	139.0					17																	40997704		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1061C>A	17.37:g.40997704C>A	ENSP00000253799:p.Ala354Asp		A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.A354D	ENST00000253799.3	37	c.1061	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478248	0.44044	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03951	3.75;3.75	5.59	5.59	0.84812	Copper amine oxidase, C-terminal (3);	0.363194	0.27064	N	0.021113	T	0.22166	0.0534	M	0.87180	2.865	0.35479	D	0.79799	D;D	0.76494	0.999;0.996	D;D	0.71656	0.974;0.956	T	0.16928	-1.0386	10	0.72032	D	0.01	-44.5262	9.5395	0.39242	0.0:0.8042:0.0:0.1958	.	354;354	O75106;O75106-2	AOC2_HUMAN;.	D	354	ENSP00000253799:A354D;ENSP00000406134:A354D	ENSP00000253799:A354D	A	+	2	0	AOC2	38251230	0.731000	0.28111	1.000000	0.80357	0.556000	0.35491	0.962000	0.29280	2.638000	0.89438	0.436000	0.28706	GCC	AOC2	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase	ENSG00000131480		0.517	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	131	0.00	0	C	NM_009590, NM_001158		40997704	40997704	+1	no_errors	ENST00000253799	ensembl	human	known	69_37n	missense	83	35.66	46	SNP	0.689	A
APAF1	317	genome.wustl.edu	37	12	99120975	99120977	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:99120975_99120977delCTT	ENST00000551964.1	+	26	4217_4219	c.3481_3483delCTT	c.(3481-3483)cttdel	p.L1162del	APAF1_ENST00000357310.1_In_Frame_Del_p.L1119del|APAF1_ENST00000550527.1_In_Frame_Del_p.L1151del|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_In_Frame_Del_p.L1108del|APAF1_ENST00000547045.1_In_Frame_Del_p.L1119del|APAF1_ENST00000339433.3_In_Frame_Del_p.L1077del|APAF1_ENST00000549007.1_In_Frame_Del_p.L1077del|APAF1_ENST00000552268.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1162					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AAACGGTGAGCTTCTTCATTTGT	0.409																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.3481_3483delCTT	12.37:g.99120978_99120980delCTT	ENSP00000448165:p.Leu1162del		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	In_Frame_Del	DEL	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.L1162in_frame_del	ENST00000551964.1	37	c.3481_3483	CCDS9069.1	12																																																																																			APAF1	-	superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000120868		0.409	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	131	0.00	0	CTT	NM_181861.1		99120975	99120977	+1	no_errors	ENST00000551964	ensembl	human	known	69_37n	in_frame_del	145	11.52	19	DEL	0.964:0.926:0.099	-
APCDD1	147495	genome.wustl.edu	37	18	10468572	10468572	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr18:10468572G>T	ENST00000355285.5	+	2	519	c.165G>T	c.(163-165)atG>atT	p.M55I	APCDD1_ENST00000578882.1_Missense_Mutation_p.M55I	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GCCATCACATGCTCAAACATC	0.542																																						dbGAP											0													110.0	98.0	102.0					18																	10468572		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.165G>T	18.37:g.10468572G>T	ENSP00000347433:p.Met55Ile			Missense_Mutation	SNP	NULL	p.M55I	ENST00000355285.5	37	c.165	CCDS11849.1	18	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671404	0.47781	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.16196	2.36	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	L	0.48362	1.52	0.80722	D	1	D	0.59357	0.985	P	0.49708	0.62	T	0.00444	-1.1735	10	0.36615	T	0.2	-42.8274	19.2845	0.94065	0.0:0.0:1.0:0.0	.	55	Q8J025	APCD1_HUMAN	I	55;106	ENSP00000347433:M55I	ENSP00000347433:M55I	M	+	3	0	APCDD1	10458572	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.484000	0.81180	2.637000	0.89404	0.655000	0.94253	ATG	APCDD1	-	NULL	ENSG00000154856		0.542	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCDD1	HGNC	protein_coding	OTTHUMT00000254529.2	101	0.00	0	G	NM_153000		10468572	10468572	+1	no_errors	ENST00000355285	ensembl	human	known	69_37n	missense	83	12.63	12	SNP	1.000	T
APOL1	8542	genome.wustl.edu	37	22	36661457	36661457	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:36661457T>A	ENST00000397278.3	+	6	804	c.575T>A	c.(574-576)gTc>gAc	p.V192D	APOL1_ENST00000347595.7_Missense_Mutation_p.V71D|APOL1_ENST00000319136.4_Missense_Mutation_p.V208D|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.V174D|APOL1_ENST00000397279.4_Missense_Mutation_p.V192D|APOL1_ENST00000422706.1_Missense_Mutation_p.V192D	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	192					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)	p.I204fs*52(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTGACCCTCGTCGGCATGGGT	0.582																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											147.0	136.0	140.0					22																	36661457		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.575T>A	22.37:g.36661457T>A	ENSP00000380448:p.Val192Asp		A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	pfam_ApoL	p.V208D	ENST00000397278.3	37	c.623	CCDS13926.1	22	.	.	.	.	.	.	.	.	.	.	t	10.45	1.352947	0.24512	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000347595;ENST00000397279	T;T;T;T;T;T	0.03982	3.74;3.74;3.74;3.74;3.74;3.74	3.38	-4.58	0.03410	.	1.008180	0.07960	N	0.982166	T	0.03783	0.0107	L	0.32530	0.975	0.09310	N	1	B;B;B	0.31519	0.327;0.327;0.28	B;B;B	0.35607	0.206;0.206;0.131	T	0.38908	-0.9639	10	0.72032	D	0.01	.	0.8473	0.01164	0.1631:0.2209:0.3328:0.2831	.	174;192;208	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	D	192;192;174;208;71;192	ENSP00000380448:V192D;ENSP00000411507:V192D;ENSP00000388477:V174D;ENSP00000317674:V208D;ENSP00000216178:V71D;ENSP00000380449:V192D	ENSP00000317674:V208D	V	+	2	0	APOL1	34991403	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.139000	0.10358	-1.582000	0.01640	-1.285000	0.01374	GTC	APOL1	-	pfam_ApoL	ENSG00000100342		0.582	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL1	HGNC	protein_coding	OTTHUMT00000319100.4	52	0.00	0	T	NM_145343		36661457	36661457	+1	no_errors	ENST00000319136	ensembl	human	known	69_37n	missense	62	11.43	8	SNP	0.000	A
ARFGEF1	10565	genome.wustl.edu	37	8	68150987	68150987	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:68150987C>G	ENST00000262215.3	-	21	3510	c.3121G>C	c.(3121-3123)Gga>Cga	p.G1041R	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.G495R|ARFGEF1_ENST00000518230.1_5'Flank	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1041					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CATGAATTTCCTAAATAATTT	0.328																																						dbGAP											0													172.0	156.0	161.0					8																	68150987		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3121G>C	8.37:g.68150987C>G	ENSP00000262215:p.Gly1041Arg		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.G1041R	ENST00000262215.3	37	c.3121	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573554	0.86542	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.64991	-0.13;0.8	5.32	5.32	0.75619	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74199	0.3685	L	0.49350	1.555	0.80722	D	1	D;D;D	0.67145	0.996;0.957;0.957	D;P;P	0.68039	0.955;0.695;0.695	T	0.70737	-0.4790	10	0.33940	T	0.23	.	19.3677	0.94471	0.0:1.0:0.0:0.0	.	1041;519;495	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	R	495;1041	ENSP00000428429:G495R;ENSP00000262215:G1041R	ENSP00000262215:G1041R	G	-	1	0	ARFGEF1	68313541	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.766000	0.85320	2.628000	0.89032	0.650000	0.86243	GGA	ARFGEF1	-	superfamily_ARM-type_fold	ENSG00000066777		0.328	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	186	0.53	1	C	NM_006421		68150987	68150987	-1	no_errors	ENST00000262215	ensembl	human	known	69_37n	missense	323	13.17	49	SNP	1.000	G
ARFGEF1	10565	genome.wustl.edu	37	8	68200263	68200263	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:68200263G>T	ENST00000262215.3	-	7	1343	c.954C>A	c.(952-954)aaC>aaA	p.N318K		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	318					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CACAATCATGGTTTTCTCCGT	0.289																																						dbGAP											0													205.0	197.0	199.0					8																	68200263		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.954C>A	8.37:g.68200263G>T	ENSP00000262215:p.Asn318Lys		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.N318K	ENST00000262215.3	37	c.954	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	G	8.386	0.838623	0.16891	.	.	ENSG00000066777	ENST00000262215	T	0.18502	2.21	5.02	4.1	0.47936	Armadillo-type fold (1);	0.247476	0.41097	D	0.000953	T	0.07638	0.0192	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.13845	-1.0494	10	0.06625	T	0.88	.	11.6913	0.51516	0.0919:0.0:0.9081:0.0	.	318	Q9Y6D6	BIG1_HUMAN	K	318	ENSP00000262215:N318K	ENSP00000262215:N318K	N	-	3	2	ARFGEF1	68362817	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.362000	0.34148	1.155000	0.42497	0.460000	0.39030	AAC	ARFGEF1	-	superfamily_ARM-type_fold	ENSG00000066777		0.289	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	321	0.00	0	G	NM_006421		68200263	68200263	-1	no_errors	ENST00000262215	ensembl	human	known	69_37n	missense	296	29.86	126	SNP	1.000	T
ARFGEF1	10565	genome.wustl.edu	37	8	68255462	68255462	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:68255462C>T	ENST00000262215.3	-	1	450	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	RP11-7F18.2_ENST00000607397.1_lincRNA	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	21	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCCTTGTCGGCCAATATCTTC	0.622																																						dbGAP											0													107.0	91.0	97.0					8																	68255462		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.61G>A	8.37:g.68255462C>T	ENSP00000262215:p.Ala21Thr		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.A21T	ENST00000262215.3	37	c.61	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151360	0.57151	.	.	ENSG00000066777	ENST00000262215;ENST00000519436	T	0.20463	2.07	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	M	0.63169	1.94	0.80722	D	1	B	0.16396	0.017	B	0.14023	0.01	T	0.03597	-1.1021	10	0.44086	T	0.13	.	11.0708	0.48002	0.0:0.9143:0.0:0.0857	.	21	Q9Y6D6	BIG1_HUMAN	T	21	ENSP00000262215:A21T	ENSP00000262215:A21T	A	-	1	0	ARFGEF1	68418016	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.486000	0.60286	2.091000	0.63221	0.643000	0.83706	GCC	ARFGEF1	-	NULL	ENSG00000066777		0.622	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	94	0.00	0	C	NM_006421		68255462	68255462	-1	no_errors	ENST00000262215	ensembl	human	known	69_37n	missense	152	10.53	18	SNP	1.000	T
ARHGAP30	257106	genome.wustl.edu	37	1	161023138	161023138	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:161023138C>T	ENST00000368013.3	-	6	894	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.A192T|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.A15T	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	192	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ATGAAGGCCGCTGTCCCATTG	0.562																																						dbGAP											0													138.0	104.0	116.0					1																	161023138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.574G>A	1.37:g.161023138C>T	ENSP00000356992:p.Ala192Thr		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A192T	ENST00000368013.3	37	c.574	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.838298	0.97009	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.45276	2.78;2.78;0.9	5.54	5.54	0.83059	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	L	0.56199	1.76	0.51012	D	0.999908	D;D	0.89917	1.0;0.995	D;D	0.76071	0.987;0.971	T	0.53092	-0.8487	10	0.56958	D	0.05	.	17.0567	0.86535	0.0:1.0:0.0:0.0	.	192;192	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	T	192;192;44;15	ENSP00000356995:A192T;ENSP00000356992:A192T;ENSP00000356994:A15T	ENSP00000356992:A192T	A	-	1	0	ARHGAP30	159289762	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.166000	0.77553	2.619000	0.88677	0.650000	0.86243	GCG	ARHGAP30	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000186517		0.562	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	65	0.00	0	C	NM_181720		161023138	161023138	-1	no_errors	ENST00000368013	ensembl	human	known	69_37n	missense	86	16.50	17	SNP	1.000	T
ARHGEF1	9138	genome.wustl.edu	37	19	42396865	42396865	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:42396865G>T	ENST00000354532.3	+	7	707	c.559G>T	c.(559-561)Gag>Tag	p.E187*	ARHGEF1_ENST00000347545.4_Nonsense_Mutation_p.E154*|ARHGEF1_ENST00000599846.1_Nonsense_Mutation_p.E187*|ARHGEF1_ENST00000378152.4_Nonsense_Mutation_p.E169*|ARHGEF1_ENST00000337665.4_Nonsense_Mutation_p.E202*	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	187	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGCCAGCTACGAGGCCCGGGA	0.697																																						dbGAP											0													15.0	19.0	18.0					19																	42396865		2200	4297	6497	-	-	-	SO:0001587	stop_gained	0			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.559G>T	19.37:g.42396865G>T	ENSP00000346532:p.Glu187*		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E169*	ENST00000354532.3	37	c.505	CCDS12591.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.395808	0.96009	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	.	.	.	4.32	4.32	0.51571	.	0.148123	0.43110	D	0.000619	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-22.0423	14.7275	0.69354	0.0:0.0:1.0:0.0	.	.	.	.	X	187;154;223;202;169	.	ENSP00000323044:E223X	E	+	1	0	ARHGEF1	47088705	1.000000	0.71417	0.880000	0.34516	0.748000	0.42578	6.386000	0.73186	2.157000	0.67596	0.306000	0.20318	GAG	ARHGEF1	-	pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam	ENSG00000076928		0.697	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	14	0.00	0	G	NM_199002		42396865	42396865	+1	no_errors	ENST00000378152	ensembl	human	known	69_37n	nonsense	13	45.83	11	SNP	0.977	T
ARID4B	51742	genome.wustl.edu	37	1	235383212	235383212	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:235383212delT	ENST00000264183.3	-	16	1976	c.1479delA	c.(1477-1479)aaafs	p.K493fs	ARID4B_ENST00000349213.3_Frame_Shift_Del_p.K493fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.K493fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	493	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TGTCTTCTGGTTTTTTAATGT	0.328																																						dbGAP											0													179.0	160.0	166.0					1																	235383212		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1479delA	1.37:g.235383212delT	ENSP00000264183:p.Lys493fs		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.K493fs	ENST00000264183.3	37	c.1479	CCDS31061.1	1																																																																																			ARID4B	-	NULL	ENSG00000054267		0.328	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	300	0.00	0	T	NM_016374		235383212	235383212	-1	no_errors	ENST00000264183	ensembl	human	known	69_37n	frame_shift_del	240	14.44	41	DEL	0.001	-
ARNT	405	genome.wustl.edu	37	1	150799086	150799086	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:150799086A>G	ENST00000358595.5	-	13	1375	c.1175T>C	c.(1174-1176)tTa>tCa	p.L392S	ARNT_ENST00000354396.2_Missense_Mutation_p.L392S|ARNT_ENST00000505755.1_Missense_Mutation_p.L377S|ARNT_ENST00000515192.1_Missense_Mutation_p.L378S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	392	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATTCTTTCCTAAGAGTTCCTA	0.383			T	ETV6	AML																																	dbGAP		Dom	yes		1	1q21	405	aryl hydrocarbon receptor nuclear translocator		L	0													65.0	74.0	71.0					1																	150799086		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1175T>C	1.37:g.150799086A>G	ENSP00000351407:p.Leu392Ser		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_Nuc_translocat,tigrfam_PAS	p.L392S	ENST00000358595.5	37	c.1175	CCDS970.1	1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332781	0.81801	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.54	5.54	0.83059	PAS fold-3 (1);PAS (3);	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	M	0.81112	2.525	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.982;0.999;1.0;0.999	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.985;0.998;1.0;1.0	T	0.47736	-0.9094	10	0.87932	D	0	.	15.672	0.77286	1.0:0.0:0.0:0.0	.	376;392;377;392;378;377;392	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	S	392;392;392;378;376;377	ENSP00000351407:L392S;ENSP00000346372:L392S;ENSP00000423851:L378S;ENSP00000427571:L377S	ENSP00000346372:L392S	L	-	2	0	ARNT	149065710	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	8.957000	0.93082	2.099000	0.63709	0.482000	0.46254	TTA	ARNT	-	pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS	ENSG00000143437		0.383	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARNT	HGNC	protein_coding	OTTHUMT00000084741.2	67	0.00	0	A			150799086	150799086	-1	no_errors	ENST00000358595	ensembl	human	known	69_37n	missense	50	73.68	140	SNP	1.000	G
ART5	116969	genome.wustl.edu	37	11	3661293	3661293	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:3661293C>T	ENST00000397068.3	-	2	758	c.366G>A	c.(364-366)gaG>gaA	p.E122E	ART5_ENST00000397067.3_Silent_p.E122E|ART5_ENST00000359918.4_Silent_p.E122E|TRPC2_ENST00000526541.1_RNA	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	122					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCATGTAGAGCTCCCGGGAGC	0.602																																						dbGAP											0													92.0	95.0	94.0					11																	3661293		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.366G>A	11.37:g.3661293C>T			C9IYG7|Q6UX84|Q86W02	Missense_Mutation	SNP	pfam_ART,prints_ART	p.A79T	ENST00000397068.3	37	c.235	CCDS7743.1	11	.	.	.	.	.	.	.	.	.	.	C	6.224	0.409507	0.11812	.	.	ENSG00000167311	ENST00000453353	.	.	.	6.07	2.1	0.27182	.	.	.	.	.	T	0.43765	0.1262	.	.	.	0.38338	D	0.943982	.	.	.	.	.	.	T	0.31888	-0.9927	4	.	.	.	-21.6556	2.6014	0.04867	0.1349:0.5405:0.1313:0.1932	.	.	.	.	T	79	.	.	A	-	1	0	ART5	3617869	0.000000	0.05858	0.221000	0.23827	0.974000	0.67602	-0.637000	0.05459	0.137000	0.18759	0.655000	0.94253	GCT	ART5	-	pfam_ART	ENSG00000167311		0.602	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART5	HGNC	protein_coding	OTTHUMT00000032760.2	27	0.00	0	C	NM_053017		3661293	3661293	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000453353	ensembl	human	putative	69_37n	missense	27	15.62	5	SNP	0.193	T
ASB17	127247	genome.wustl.edu	37	1	76387846	76387847	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:76387846_76387847insA	ENST00000284142.6	-	2	738_739	c.599_600insT	c.(598-600)ttgfs	p.L200fs		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	200					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GGATGTCAGCCAATTCACGATC	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.600dupT	1.37:g.76387848_76387848dupA	ENSP00000284142:p.Leu200fs		B1APB8|Q8N0X5	Frame_Shift_Ins	INS	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.L200fs	ENST00000284142.6	37	c.600_599	CCDS671.1	1																																																																																			ASB17	-	NULL	ENSG00000154007		0.356	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	112	0.00	0	-	NM_080868		76387846	76387847	-1	no_errors	ENST00000284142	ensembl	human	known	69_37n	frame_shift_ins	93	10.58	11	INS	1.000:0.999	A
ASCC2	84164	genome.wustl.edu	37	22	30210719	30210719	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:30210719C>T	ENST00000397771.2	-	8	824	c.647G>A	c.(646-648)gGg>gAg	p.G216E	ASCC2_ENST00000542393.1_Missense_Mutation_p.G140E|ASCC2_ENST00000478812.1_5'UTR|ASCC2_ENST00000307790.3_Missense_Mutation_p.G216E			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGCCCCGTCCCCTTGCAAACC	0.577																																						dbGAP											0													84.0	71.0	75.0					22																	30210719		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.647G>A	22.37:g.30210719C>T	ENSP00000380877:p.Gly216Glu		B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.G216E	ENST00000397771.2	37	c.647	CCDS13869.1	22	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465901	0.43839	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393;ENST00000431535	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.33	5.33	0.75918	.	0.451684	0.26967	N	0.021594	T	0.19167	0.0460	N	0.14661	0.345	0.40534	D	0.980954	P;B	0.37061	0.58;0.059	B;B	0.39840	0.311;0.018	T	0.02885	-1.1098	10	0.02654	T	1	-21.6101	15.8799	0.79195	0.0:1.0:0.0:0.0	.	140;216	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	E	216;216;140;216	ENSP00000305502:G216E;ENSP00000380877:G216E;ENSP00000437570:G140E;ENSP00000412382:G216E	ENSP00000305502:G216E	G	-	2	0	ASCC2	28540719	0.672000	0.27530	1.000000	0.80357	0.986000	0.74619	2.807000	0.47955	2.775000	0.95449	0.655000	0.94253	GGG	ASCC2	-	NULL	ENSG00000100325		0.577	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1	78	0.00	0	C	NM_032204		30210719	30210719	-1	no_errors	ENST00000307790	ensembl	human	known	69_37n	missense	83	23.15	25	SNP	0.998	T
ASCC3	10973	genome.wustl.edu	37	6	101296336	101296336	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:101296336delA	ENST00000369162.2	-	4	833	c.489delT	c.(487-489)tttfs	p.F163fs	ASCC3_ENST00000522650.1_Frame_Shift_Del_p.F163fs	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	163					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATTTTTACCAAAAAAAACCC	0.333																																						dbGAP											0													59.0	54.0	56.0					6																	101296336		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.489delT	6.37:g.101296336delA	ENSP00000358159:p.Phe163fs		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Frame_Shift_Del	DEL	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F163fs	ENST00000369162.2	37	c.489	CCDS5046.1	6																																																																																			ASCC3	-	NULL	ENSG00000112249		0.333	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	62	0.00	0	A	NM_006828		101296336	101296336	-1	no_errors	ENST00000369162	ensembl	human	known	69_37n	frame_shift_del	66	20.24	17	DEL	1.000	-
ASXL1	171023	genome.wustl.edu	37	20	31021221	31021221	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:31021221A>G	ENST00000375687.4	+	12	1644	c.1220A>G	c.(1219-1221)cAt>cGt	p.H407R	ASXL1_ENST00000306058.5_Missense_Mutation_p.H402R	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	407	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CGAGATGGGCATTTTAAGAAA	0.517			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													93.0	90.0	91.0					20																	31021221		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1220A>G	20.37:g.31021221A>G	ENSP00000364839:p.His407Arg		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.H407R	ENST00000375687.4	37	c.1220	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343509	0.61073	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.13420	2.59;2.59	4.49	4.49	0.54785	.	0.054724	0.64402	D	0.000001	T	0.22820	0.0551	L	0.53249	1.67	0.37088	D	0.899319	D;B	0.54601	0.967;0.204	P;B	0.57960	0.83;0.194	T	0.10042	-1.0647	10	0.16896	T	0.51	-12.1896	10.4048	0.44249	0.9195:0.0:0.0805:0.0	.	402;407	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	R	407;407;407;346;402	ENSP00000364839:H407R;ENSP00000305119:H402R	ENSP00000305119:H402R	H	+	2	0	ASXL1	30484882	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.130000	0.42064	2.016000	0.59253	0.533000	0.62120	CAT	ASXL1	-	NULL	ENSG00000171456		0.517	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	55	0.00	0	A	NM_015338		31021221	31021221	+1	no_errors	ENST00000375687	ensembl	human	known	69_37n	missense	62	17.33	13	SNP	1.000	G
ATG2A	23130	genome.wustl.edu	37	11	64677214	64677214	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:64677214A>G	ENST00000377264.3	-	14	2158	c.2046T>C	c.(2044-2046)ctT>ctC	p.L682L	ATG2A_ENST00000421419.2_Silent_p.L682L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	682					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCCCACTGCTAAGCTCTGACC	0.682																																						dbGAP											0													38.0	44.0	42.0					11																	64677214		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2046T>C	11.37:g.64677214A>G			O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Nonstop_Mutation	SNP	pfam_Autophagy-rel_C	p.*484Q	ENST00000377264.3	37	c.1450	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	A	10.10	1.258247	0.23051	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.28	-1.04	0.10068	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3667	0.02202	0.4142:0.2627:0.2017:0.1214	.	.	.	.	Q	484	.	.	X	-	1	0	ATG2A	64433790	0.745000	0.28261	0.991000	0.47740	0.968000	0.65278	-0.271000	0.08572	-0.280000	0.09154	0.459000	0.35465	TAG	ATG2A	-	NULL	ENSG00000110046		0.682	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	27	0.00	0	A	NM_015104		64677214	64677214	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000418259	ensembl	human	novel	69_37n	nonstop	27	20.00	7	SNP	0.973	G
ATG7	10533	genome.wustl.edu	37	3	11383701	11383701	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:11383701G>A	ENST00000354449.3	+	11	1098	c.1073G>A	c.(1072-1074)tGt>tAt	p.C358Y	ATG7_ENST00000446450.2_Missense_Mutation_p.C319Y|ATG7_ENST00000354956.5_Missense_Mutation_p.C358Y	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	358					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TCTGTCAAATGTCTGCTGCTT	0.468																																						dbGAP											0													203.0	185.0	191.0					3																	11383701		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1073G>A	3.37:g.11383701G>A	ENSP00000346437:p.Cys358Tyr		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_E1-like_Apg7	p.C358Y	ENST00000354449.3	37	c.1073	CCDS2605.1	3	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006676	0.54361	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	T;T;T	0.29655	1.56;1.56;1.56	5.87	5.0	0.66597	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.89214	3.015	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.71163	-0.4673	10	0.87932	D	0	-14.2515	14.984	0.71332	0.0681:0.0:0.9319:0.0	.	319;358;358	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	Y	319;358;358	ENSP00000412580:C319Y;ENSP00000347042:C358Y;ENSP00000346437:C358Y	ENSP00000346437:C358Y	C	+	2	0	ATG7	11358701	1.000000	0.71417	0.948000	0.38648	0.133000	0.20885	8.830000	0.92063	1.502000	0.48669	-0.136000	0.14681	TGT	ATG7	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_E1-like_Apg7	ENSG00000197548		0.468	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	HGNC	protein_coding	OTTHUMT00000251951.3	128	0.00	0	G	NM_006395		11383701	11383701	+1	no_errors	ENST00000354449	ensembl	human	known	69_37n	missense	99	17.36	21	SNP	1.000	A
ATP1A1	476	genome.wustl.edu	37	1	116926693	116926693	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:116926693delA	ENST00000295598.5	+	2	322	c.70delA	c.(70-72)aaafs	p.K25fs	AL136376.1_ENST00000598661.1_Frame_Shift_Del_p.L9fs|ATP1A1_ENST00000369496.4_5'UTR|ATP1A1_ENST00000537345.1_Frame_Shift_Del_p.K25fs	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	25					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TAAAAAGGGCAAAAAGGGCAA	0.393																																						dbGAP											0													93.0	91.0	92.0					1																	116926693		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.70delA	1.37:g.116926693delA	ENSP00000295598:p.Lys25fs		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.K25fs	ENST00000295598.5	37	c.70	CCDS887.1	1																																																																																			ATP1A1	-	NULL	ENSG00000163399		0.393	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	98	0.00	0	A	NM_001160233		116926693	116926693	+1	no_errors	ENST00000295598	ensembl	human	known	69_37n	frame_shift_del	64	23.81	20	DEL	1.000	-
ATP6V0A4	50617	genome.wustl.edu	37	7	138418883	138418883	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:138418883G>A	ENST00000310018.2	-	16	1971	c.1689C>T	c.(1687-1689)caC>caT	p.H563H	ATP6V0A4_ENST00000393054.1_Silent_p.H563H|ATP6V0A4_ENST00000353492.4_Silent_p.H563H	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	563					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAACTTACATGTGATTGAAAA	0.443																																						dbGAP											0													146.0	119.0	128.0					7																	138418883		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1689C>T	7.37:g.138418883G>A			A4D1R4|A8KA80|Q32M47	Silent	SNP	pfam_ATPase_V0/A0_a	p.H563	ENST00000310018.2	37	c.1689	CCDS5849.1	7																																																																																			ATP6V0A4	-	pfam_ATPase_V0/A0_a	ENSG00000105929		0.443	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	123	0.00	0	G	NM_020632		138418883	138418883	-1	no_errors	ENST00000310018	ensembl	human	known	69_37n	silent	102	21.54	28	SNP	1.000	A
ATP6V1B1	525	genome.wustl.edu	37	2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:71191573delC	ENST00000234396.4	+	12	1222	c.1149delC	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_ENST00000412314.1_Frame_Shift_Del_p.Y366fs|RN7SL160P_ENST00000468558.2_RNA|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CTCAGATCTACCCCCCCATCA	0.547											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													95.0	90.0	92.0					2																	71191573		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1149delC	2.37:g.71191573delC	ENSP00000234396:p.Tyr383fs	1128	Q53FY0|Q6P4H6	Frame_Shift_Del	DEL	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.I386fs	ENST00000234396.4	37	c.1149	CCDS1912.1	2																																																																																			ATP6V1B1	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_bsu	ENSG00000116039		0.547	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B1	HGNC	protein_coding	OTTHUMT00000251920.2	117	0.00	0	C	NM_001692		71191573	71191573	+1	no_errors	ENST00000234396	ensembl	human	known	69_37n	frame_shift_del	150	11.76	20	DEL	0.999	-
ATP9A	10079	genome.wustl.edu	37	20	50256004	50256004	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:50256004G>T	ENST00000338821.5	-	15	1810	c.1546C>A	c.(1546-1548)Ctg>Atg	p.L516M	ATP9A_ENST00000402822.1_Missense_Mutation_p.L395M|ATP9A_ENST00000311637.5_Missense_Mutation_p.L380M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	516					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGGCCCACCAGGGTTAAGCCC	0.547											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													120.0	96.0	104.0					20																	50256004		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1546C>A	20.37:g.50256004G>T	ENSP00000342481:p.Leu516Met	968	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L516M	ENST00000338821.5	37	c.1546	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	G	19.85	3.902906	0.72754	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.73152	-0.72;-0.72;-0.72	5.26	5.26	0.73747	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.069242	0.64402	D	0.000013	D	0.85885	0.5801	M	0.92784	3.345	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.78314	0.991;0.983	D	0.88078	0.2805	10	0.87932	D	0	-22.2552	9.5693	0.39418	0.1561:0.0:0.8439:0.0	.	395;516	O75110-2;O75110	.;ATP9A_HUMAN	M	380;516;395	ENSP00000309086:L380M;ENSP00000342481:L516M;ENSP00000385875:L395M	ENSP00000309086:L380M	L	-	1	2	ATP9A	49689411	1.000000	0.71417	0.947000	0.38551	0.984000	0.73092	4.151000	0.58105	2.452000	0.82932	0.609000	0.83330	CTG	ATP9A	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000054793		0.547	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	63	0.00	0	G	NM_006045		50256004	50256004	-1	no_errors	ENST00000338821	ensembl	human	known	69_37n	missense	85	16.67	17	SNP	0.996	T
ATXN2	6311	genome.wustl.edu	37	12	111923661	111923661	+	Silent	SNP	A	A	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:111923661A>C	ENST00000377617.3	-	17	2954	c.2793T>G	c.(2791-2793)ccT>ccG	p.P931P	ATXN2_ENST00000542287.2_Silent_p.P666P|ATXN2_ENST00000608853.1_Silent_p.P771P|ATXN2_ENST00000389153.4_Silent_p.P666P|ATXN2_ENST00000535949.1_Silent_p.P642P|AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000550104.1_Silent_p.P931P	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	931	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GGGTAGTAGAAGGCTTTGGCT	0.393																																						dbGAP											0													117.0	112.0	113.0					12																	111923661		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2793T>G	12.37:g.111923661A>C			A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.L852R	ENST00000377617.3	37	c.2555	CCDS31902.1	12																																																																																			ATXN2	-	NULL	ENSG00000204842		0.393	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	176	0.00	0	A	NM_002973		111923661	111923661	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000483311	ensembl	human	known	69_37n	missense	162	19.31	39	SNP	1.000	C
ATXN2	6311	genome.wustl.edu	37	12	111956157	111956157	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:111956157G>A	ENST00000377617.3	-	9	1702	c.1541C>T	c.(1540-1542)cCg>cTg	p.P514L	ATXN2_ENST00000542287.2_Missense_Mutation_p.P249L|ATXN2_ENST00000608853.1_Missense_Mutation_p.P354L|ATXN2_ENST00000389153.4_Missense_Mutation_p.P249L|ATXN2_ENST00000549455.1_5'Flank|ATXN2_ENST00000535949.1_Missense_Mutation_p.P225L|ATXN2_ENST00000550104.1_Missense_Mutation_p.P514L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	514					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCCCATACGCGGTGAATTCTG	0.438																																						dbGAP											0													118.0	112.0	114.0					12																	111956157		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1541C>T	12.37:g.111956157G>A	ENSP00000366843:p.Pro514Leu		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.P514L	ENST00000377617.3	37	c.1541	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184410	0.78677	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949	T;T	0.68479	-0.26;-0.33	5.17	5.17	0.71159	.	0.050134	0.85682	D	0.000000	T	0.65595	0.2706	N	0.24115	0.695	0.80722	D	1	P;D;D;D	0.71674	0.918;0.998;0.965;0.992	B;P;B;P	0.52031	0.148;0.688;0.289;0.67	T	0.70317	-0.4905	10	0.59425	D	0.04	-6.5048	18.6789	0.91540	0.0:0.0:1.0:0.0	.	249;514;225;249	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	L	249;514;514;249;225	ENSP00000366843:P514L;ENSP00000446576:P514L	ENSP00000366843:P514L	P	-	2	0	ATXN2	110440540	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.110000	0.94302	2.409000	0.81822	0.563000	0.77884	CCG	ATXN2	-	NULL	ENSG00000204842		0.438	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	58	0.00	0	G	NM_002973		111956157	111956157	-1	no_errors	ENST00000377617	ensembl	human	known	69_37n	missense	67	10.67	8	SNP	1.000	A
AURKB	9212	genome.wustl.edu	37	17	8108653	8108653	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:8108653G>A	ENST00000585124.1	-	8	835	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000316199.6_Missense_Mutation_p.R249C|AURKB_ENST00000578549.1_Missense_Mutation_p.R216C|AURKB_ENST00000534871.1_Missense_Mutation_p.R207C	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						TTGTGCATGCGCCCCTCAATC	0.567																																					NSCLC(134;1161 2470 43664 51568)	dbGAP											0													147.0	118.0	128.0					17																	8108653		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.742C>T	17.37:g.8108653G>A	ENSP00000463999:p.Arg248Cys		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	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	p.R248C	ENST00000585124.1	37	c.742	CCDS11134.1	17	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726690	0.48833	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.67171	-0.25	5.4	2.34	0.29019	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.324791	0.36234	N	0.002716	T	0.50257	0.1605	L	0.42686	1.345	0.80722	D	1	B;B	0.28636	0.218;0.218	B;B	0.16289	0.015;0.015	T	0.47262	-0.9131	10	0.87932	D	0	-22.2238	4.3531	0.11165	0.1656:0.0:0.5176:0.3168	.	248;248	C7G533;Q96GD4	.;AURKB_HUMAN	C	248;207	ENSP00000443869:R207C	ENSP00000313950:R248C	R	-	1	0	AURKB	8049378	0.113000	0.22115	0.939000	0.37840	0.897000	0.52465	1.137000	0.31479	0.416000	0.25844	0.650000	0.86243	CGC	AURKB	-	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	ENSG00000178999		0.567	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AURKB	HGNC	protein_coding	OTTHUMT00000226995.2	134	0.00	0	G	NM_004217		8108653	8108653	-1	no_errors	ENST00000585124	ensembl	human	known	69_37n	missense	99	14.66	17	SNP	0.996	A
AVPR1B	553	genome.wustl.edu	37	1	206224648	206224648	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:206224648C>T	ENST00000367126.4	+	1	673	c.208C>T	c.(208-210)Cac>Tac	p.H70Y	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	70					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTCCCGCATGCACCTGTTCGT	0.677																																						dbGAP											0													57.0	58.0	58.0					1																	206224648		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.208C>T	1.37:g.206224648C>T	ENSP00000356094:p.His70Tyr		B0M0J6|Q5TZ00	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt	p.H70Y	ENST00000367126.4	37	c.208	CCDS30994.1	1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334785	0.41297	.	.	ENSG00000198049	ENST00000367126	T	0.10668	2.85	5.35	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.074005	0.56097	D	0.000029	T	0.09379	0.0231	N	0.16478	0.41	0.48288	D	0.999626	B	0.17038	0.02	B	0.30943	0.122	T	0.21724	-1.0237	10	0.33141	T	0.24	-36.207	14.9335	0.70935	0.1442:0.8558:0.0:0.0	.	70	P47901	V1BR_HUMAN	Y	70	ENSP00000356094:H70Y	ENSP00000356094:H70Y	H	+	1	0	AVPR1B	204391271	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.070000	0.50033	1.433000	0.47394	0.514000	0.50259	CAC	AVPR1B	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt	ENSG00000198049		0.677	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1B	HGNC	protein_coding	OTTHUMT00000087996.1	14	0.00	0	C	NM_000707		206224648	206224648	+1	no_errors	ENST00000367126	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	1.000	T
CEP131	22994	genome.wustl.edu	37	17	79168750	79168750	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:79168750A>G	ENST00000269392.4	-	17	2295	c.2048T>C	c.(2047-2049)tTa>tCa	p.L683S	RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000450824.2_Missense_Mutation_p.L680S|AZI1_ENST00000575907.1_Missense_Mutation_p.L683S|AZI1_ENST00000374782.3_Missense_Mutation_p.L680S	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		683					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGCGCTCATTAATTCTTTGAG	0.562																																						dbGAP											0													133.0	144.0	140.0					17																	79168750		2202	4300	6502	-	-	-	SO:0001583	missense	0																														ENST00000269392.4:c.2048T>C	17.37:g.79168750A>G	ENSP00000269392:p.Leu683Ser		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	superfamily_t-SNARE	p.L683S	ENST00000269392.4	37	c.2048		17	.	.	.	.	.	.	.	.	.	.	A	9.861	1.196196	0.22037	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.46063	0.88;0.88;0.88	4.11	4.11	0.48088	.	0.000000	0.64402	D	0.000004	T	0.48333	0.1494	M	0.63843	1.955	0.20403	N	0.999903	D;B;P;B	0.53312	0.959;0.049;0.835;0.052	P;B;P;B	0.50659	0.647;0.044;0.635;0.028	T	0.40961	-0.9535	10	0.30078	T	0.28	-15.6069	12.9421	0.58350	1.0:0.0:0.0:0.0	.	680;683;680;680	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	S	680;680;683	ENSP00000393583:L680S;ENSP00000363914:L680S;ENSP00000269392:L683S	ENSP00000269392:L683S	L	-	2	0	AZI1	76783345	0.940000	0.31905	0.062000	0.19696	0.003000	0.03518	5.568000	0.67385	1.719000	0.51432	0.482000	0.46254	TTA	AZI1	-	NULL	ENSG00000141577		0.562	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	HGNC	protein_coding	OTTHUMT00000256070.1	123	0.00	0	A			79168750	79168750	-1	no_errors	ENST00000269392	ensembl	human	known	69_37n	missense	130	14.84	23	SNP	0.107	G
B3GALTL	145173	genome.wustl.edu	37	13	31797103	31797103	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:31797103T>C	ENST00000343307.4	+	3	284	c.135T>C	c.(133-135)agT>agC	p.S45S		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	45					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TGGAGAAAAGTGGTATATCAA	0.313																																						dbGAP											0													134.0	128.0	130.0					13																	31797103		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.135T>C	13.37:g.31797103T>C			A8K5F8|Q5W0H2|Q6NUI3	Silent	SNP	pfam_Fringe-like	p.S45	ENST00000343307.4	37	c.135	CCDS9341.1	13																																																																																			B3GALTL	-	NULL	ENSG00000187676		0.313	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALTL	HGNC	protein_coding	OTTHUMT00000044396.3	252	0.00	0	T	NM_194318		31797103	31797103	+1	no_errors	ENST00000343307	ensembl	human	known	69_37n	silent	200	16.32	39	SNP	0.707	C
BCAT1	586	genome.wustl.edu	37	12	25031486	25031486	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:25031486C>T	ENST00000261192.7	-	5	1014	c.488G>A	c.(487-489)cGt>cAt	p.R163H	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.R162H|BCAT1_ENST00000342945.5_Missense_Mutation_p.R102H|BCAT1_ENST00000539282.1_Missense_Mutation_p.R175H|BCAT1_ENST00000539780.1_Missense_Mutation_p.R126H	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	163					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	GAATGTAGGACGAATATACAG	0.373																																						dbGAP											0													82.0	81.0	82.0					12																	25031486		1928	4137	6065	-	-	-	SO:0001583	missense	0				CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.488G>A	12.37:g.25031486C>T	ENSP00000261192:p.Arg163His		B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.R163H	ENST00000261192.7	37	c.488	CCDS44845.1	12	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507699	0.85282	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780;ENST00000546285	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	6.13	6.13	0.99165	.	0.053461	0.64402	D	0.000001	T	0.80470	0.4629	H	0.99855	4.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88843	0.3314	10	0.87932	D	0	-11.1608	19.6314	0.95704	0.0:1.0:0.0:0.0	.	126;175;102;163;162	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	H	163;162;102;175;126;139	ENSP00000261192:R163H;ENSP00000440817:R162H;ENSP00000339805:R102H;ENSP00000443459:R175H;ENSP00000440827:R126H;ENSP00000438593:R139H	ENSP00000261192:R163H	R	-	2	0	BCAT1	24922753	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	6.231000	0.72307	2.937000	0.99478	0.650000	0.86243	CGT	BCAT1	-	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	ENSG00000060982		0.373	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BCAT1	HGNC	protein_coding	OTTHUMT00000402080.1	100	0.00	0	C	NM_005504		25031486	25031486	-1	no_errors	ENST00000261192	ensembl	human	known	69_37n	missense	132	12.00	18	SNP	1.000	T
BFSP1	631	genome.wustl.edu	37	20	17475657	17475657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:17475657G>A	ENST00000377873.3	-	8	1099	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	BFSP1_ENST00000536626.1_Nonsense_Mutation_p.Q215*|BFSP1_ENST00000377868.2_Nonsense_Mutation_p.Q229*|BFSP1_ENST00000544874.1_Nonsense_Mutation_p.Q215*	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	354	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GTTATATCCTGCAGAGCTCTG	0.403																																						dbGAP											0													101.0	106.0	104.0					20																	17475657		2193	4299	6492	-	-	-	SO:0001587	stop_gained	0			Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1060C>T	20.37:g.17475657G>A	ENSP00000367104:p.Gln354*		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Nonsense_Mutation	SNP	pfam_F,superfamily_Prefoldin	p.Q354*	ENST00000377873.3	37	c.1060	CCDS13126.1	20	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609764	0.66558	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	.	.	.	5.47	4.52	0.55395	.	0.058622	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.55	13.0895	0.59160	0.078:0.0:0.922:0.0	.	.	.	.	X	354;229;215;215	.	ENSP00000367099:Q229X	Q	-	1	0	BFSP1	17423657	1.000000	0.71417	0.995000	0.50966	0.128000	0.20619	9.096000	0.94182	1.300000	0.44818	0.655000	0.94253	CAG	BFSP1	-	NULL	ENSG00000125864		0.403	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFSP1	HGNC	protein_coding	OTTHUMT00000078119.6	281	0.00	0	G	NM_001195		17475657	17475657	-1	no_errors	ENST00000377873	ensembl	human	known	69_37n	nonsense	184	21.70	51	SNP	1.000	A
BHLHB9	80823	genome.wustl.edu	37	X	102004543	102004543	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:102004543delA	ENST00000372735.1	+	4	1205	c.620delA	c.(619-621)gaafs	p.E207fs	BHLHB9_ENST00000457056.1_Frame_Shift_Del_p.E207fs|BHLHB9_ENST00000361229.4_Frame_Shift_Del_p.E207fs|BHLHB9_ENST00000448867.1_Frame_Shift_Del_p.E207fs|BHLHB9_ENST00000447531.1_Frame_Shift_Del_p.E207fs			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	207					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAATTAATGAAAAAAATAGG	0.453																																						dbGAP											0													128.0	136.0	133.0					X																	102004543		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.620delA	X.37:g.102004543delA	ENSP00000361820:p.Glu207fs		Q9C0G2	Frame_Shift_Del	DEL	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.N209fs	ENST00000372735.1	37	c.620	CCDS14502.1	X																																																																																			BHLHB9	-	NULL	ENSG00000198908		0.453	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHB9	HGNC	protein_coding	OTTHUMT00000057630.1	49	0.00	0	A	NM_030639		102004543	102004543	+1	no_errors	ENST00000361229	ensembl	human	known	69_37n	frame_shift_del	31	18.42	7	DEL	1.000	-
BLOC1S6	26258	genome.wustl.edu	37	15	45884475	45884475	+	Splice_Site	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:45884475G>C	ENST00000220531.3	+	2	545		c.e2+1		BLOC1S6_ENST00000565409.1_Splice_Site|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000565216.1_Intron|BLOC1S6_ENST00000567740.1_Intron|Y_RNA_ENST00000363549.1_RNA|BLOC1S6_ENST00000567461.1_Intron|BLOC1S6_ENST00000566753.1_Splice_Site|BLOC1S6_ENST00000568816.1_Splice_Site|BLOC1S6_ENST00000564765.1_Splice_Site|BLOC1S6_ENST00000562384.1_Intron|BLOC1S6_ENST00000565323.1_Splice_Site	NM_012388.2	NP_036520.1	Q9UL45	BL1S6_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|endosome to melanosome transport (GO:0035646)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of pigment cell differentiation (GO:0050942)|post-Golgi vesicle-mediated transport (GO:0006892)|secretion of lysosomal enzymes (GO:0033299)|synaptic vesicle docking involved in exocytosis (GO:0016081)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|transport vesicle (GO:0030133)	actin filament binding (GO:0051015)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)										AGGAACTCACGTAAGCTAATA	0.368																																						dbGAP											0													77.0	78.0	78.0					15																	45884475		2198	4298	6496	-	-	-	SO:0001630	splice_region_variant	0			AF080470	CCDS10126.1	15q21.1	2013-09-27	2012-08-07	2012-08-01	ENSG00000104164	ENSG00000104164		"""Biogenesis of lysosomal organelles complex-1 subunits"""	8549	protein-coding gene	gene with protein product		604310	"""pallid (mouse) homolog, pallidin"", ""pallidin homolog (mouse)"""	PA, PLDN		10610180	Standard	NM_012388		Approved	HPS9	uc001zvq.3	Q9UL45	OTTHUMG00000131477	ENST00000220531.3:c.224+1G>C	15.37:g.45884475G>C				Splice_Site	SNP	-	e2+1	ENST00000220531.3	37	c.224+1	CCDS10126.1	15	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906843	0.72868	.	.	ENSG00000104164	ENST00000220531	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4111	0.87486	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLDN	43671767	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.286000	0.78671	2.707000	0.92482	0.563000	0.77884	.	BLOC1S6	-	-	ENSG00000104164		0.368	BLOC1S6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLOC1S6	HGNC	protein_coding	OTTHUMT00000254320.2	100	0.00	0	G	NM_012388	Intron	45884475	45884475	+1	no_errors	ENST00000220531	ensembl	human	known	69_37n	splice_site	62	16.22	12	SNP	1.000	C
BRS3	680	genome.wustl.edu	37	X	135570623	135570623	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:135570623G>T	ENST00000370648.3	+	1	578	c.350G>T	c.(349-351)aGa>aTa	p.R117I	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	117					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.R117K(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CTGTTCGGAAGAATTGGTTGT	0.453																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											152.0	140.0	144.0					X																	135570623		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.350G>T	X.37:g.135570623G>T	ENSP00000359682:p.Arg117Ile			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.R117I	ENST00000370648.3	37	c.350	CCDS14656.1	X	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553562	0.65425	.	.	ENSG00000102239	ENST00000370648	T	0.73363	-0.74	5.92	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.131409	0.52532	D	0.000065	T	0.78362	0.4271	M	0.67953	2.075	0.52099	D	0.999942	P	0.50272	0.933	P	0.53988	0.739	T	0.75218	-0.3395	10	0.49607	T	0.09	-3.5829	9.1616	0.37025	0.2384:0.0:0.7616:0.0	.	117	P32247	BRS3_HUMAN	I	117	ENSP00000359682:R117I	ENSP00000359682:R117I	R	+	2	0	BRS3	135398289	1.000000	0.71417	0.960000	0.40013	0.992000	0.81027	3.585000	0.53943	0.274000	0.22072	0.594000	0.82650	AGA	BRS3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000102239		0.453	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRS3	HGNC	protein_coding	OTTHUMT00000059005.1	148	0.00	0	G	NM_001727		135570623	135570623	+1	no_errors	ENST00000370648	ensembl	human	known	69_37n	missense	134	17.28	28	SNP	0.998	T
BRWD1	54014	genome.wustl.edu	37	21	40646341	40646341	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr21:40646341T>A	ENST00000333229.2	-	13	1530	c.1203A>T	c.(1201-1203)gaA>gaT	p.E401D	BRWD1_ENST00000380800.3_Missense_Mutation_p.E401D|BRWD1_ENST00000342449.3_Missense_Mutation_p.E401D	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	401					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGCTCCTCCATTCTAACTGCT	0.408																																					Melanoma(170;988 1986 4794 16843 39731)	dbGAP											0													220.0	175.0	191.0					21																	40646341		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1203A>T	21.37:g.40646341T>A	ENSP00000330753:p.Glu401Asp		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E401D	ENST00000333229.2	37	c.1203	CCDS13662.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.22|15.22	2.769851|2.769851	0.49680|0.49680	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.19250|.	2.16;2.16;2.16|.	5.55|5.55	1.93|1.93	0.25924|0.25924	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.157506|.	0.44097|.	D|.	0.000500|.	T|T	0.56217|0.56217	0.1970|0.1970	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;D|.	0.53151|.	0.824;0.692;0.958|.	B;P;B|.	0.53593|.	0.3;0.73;0.369|.	T|T	0.47235|0.47235	-0.9133|-0.9133	10|5	0.52906|.	T|.	0.07|.	-11.7089|-11.7089	5.3392|5.3392	0.15974|0.15974	0.0:0.3743:0.1559:0.4699|0.0:0.3743:0.1559:0.4699	.|.	112;401;401|.	Q5R2U6;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	D|L	401|113	ENSP00000330753:E401D;ENSP00000344333:E401D;ENSP00000370178:E401D|.	ENSP00000330753:E401D|.	E|M	-|-	3|1	2|0	BRWD1|BRWD1	39568211|39568211	0.536000|0.536000	0.26378|0.26378	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	-0.285000|-0.285000	0.08410|0.08410	0.097000|0.097000	0.17492|0.17492	0.397000|0.397000	0.26171|0.26171	GAA|ATG	BRWD1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000185658		0.408	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	211	0.00	0	T	NM_033656		40646341	40646341	-1	no_errors	ENST00000333229	ensembl	human	known	69_37n	missense	187	14.93	33	SNP	1.000	A
C11orf21	29125	genome.wustl.edu	37	11	2320797	2320797	+	Silent	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:2320797A>T	ENST00000381153.3	-	3	539	c.288T>A	c.(286-288)ccT>ccA	p.P96P	C11orf21_ENST00000470369.1_5'UTR|TSPAN32_ENST00000381121.3_5'Flank|TSPAN32_ENST00000182290.4_5'Flank			Q9P2W6	CK021_HUMAN	chromosome 11 open reading frame 21	96						cytoplasm (GO:0005737)											GCAACTGCCCAGGTAAACTGA	0.627																																						dbGAP											0													79.0	86.0	84.0					11																	2320797		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB029488	CCDS44518.1	11p15.5	2012-08-09			ENSG00000110665	ENSG00000110665			13231	protein-coding gene	gene with protein product		611033				11054561	Standard	NM_001142946		Approved		uc009ydj.2	Q9P2W6	OTTHUMG00000009759	ENST00000381153.3:c.288T>A	11.37:g.2320797A>T				Silent	SNP	NULL	p.P142	ENST00000381153.3	37	c.426		11																																																																																			C11orf21	-	NULL	ENSG00000110665		0.627	C11orf21-001	KNOWN	basic	protein_coding	C11orf21	HGNC	protein_coding	OTTHUMT00000026908.2	85	0.00	0	A	NM_001142946		2320797	2320797	-1	no_errors	ENST00000456145	ensembl	human	known	69_37n	silent	82	19.42	20	SNP	0.189	T
BSX	390259	genome.wustl.edu	37	11	122848486	122848486	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:122848486A>G	ENST00000343035.2	-	3	621	c.573T>C	c.(571-573)ggT>ggC	p.G191G		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	191					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CGGCCTCTGAACCGCGGGGGC	0.662																																						dbGAP											0													25.0	30.0	28.0					11																	122848486		1859	4086	5945	-	-	-	SO:0001819	synonymous_variant	0				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.573T>C	11.37:g.122848486A>G				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	p.G191	ENST00000343035.2	37	c.573	CCDS41728.1	11																																																																																			BSX	-	NULL	ENSG00000188909		0.662	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BSX	HGNC	protein_coding	OTTHUMT00000317076.1	57	0.00	0	A	NM_001098169		122848486	122848486	-1	no_errors	ENST00000343035	ensembl	human	known	69_37n	silent	57	10.94	7	SNP	0.014	G
C15orf39	56905	genome.wustl.edu	37	15	75503351	75503351	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:75503351C>T	ENST00000360639.2	+	3	3358	c.3038C>T	c.(3037-3039)gCc>gTc	p.A1013V	RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000394987.4_Missense_Mutation_p.A1013V|C15orf39_ENST00000567617.1_3'UTR			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	1013						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTGGAGACCGCCTGGCTCAAT	0.667																																						dbGAP											0													42.0	39.0	40.0					15																	75503351		2197	4295	6492	-	-	-	SO:0001583	missense	0			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.3038C>T	15.37:g.75503351C>T	ENSP00000353854:p.Ala1013Val		B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	NULL	p.A1013V	ENST00000360639.2	37	c.3038	CCDS10276.1	15	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514450	0.64522	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.29917	1.55;1.55	4.24	4.24	0.50183	.	0.268066	0.31963	N	0.006789	T	0.42471	0.1204	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.34428	-0.9829	10	0.72032	D	0.01	-23.5635	12.3011	0.54874	0.0:1.0:0.0:0.0	.	1013	Q6ZRI6	CO039_HUMAN	V	1013;1013;411	ENSP00000353854:A1013V;ENSP00000378438:A1013V	ENSP00000353854:A1013V	A	+	2	0	C15orf39	73290404	0.990000	0.36364	0.991000	0.47740	0.360000	0.29518	3.424000	0.52764	2.363000	0.80096	0.462000	0.41574	GCC	C15orf39	-	NULL	ENSG00000167173		0.667	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	HGNC	protein_coding	OTTHUMT00000286410.1	23	0.00	0	C	NM_015492		75503351	75503351	+1	no_errors	ENST00000360639	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	0.990	T
C16orf62	57020	genome.wustl.edu	37	16	19702748	19702748	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:19702748G>A	ENST00000251143.5	+	29	2613	c.2601G>A	c.(2599-2601)gtG>gtA	p.V867V	C16orf62_ENST00000543152.1_Silent_p.V616V|C16orf62_ENST00000417362.2_Silent_p.V774V|C16orf62_ENST00000438132.3_Silent_p.V956V|C16orf62_ENST00000448695.1_Silent_p.V717V|C16orf62_ENST00000542263.1_Silent_p.V863V			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	867						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GTGAGACGGTGATGGCTCAGA	0.547																																						dbGAP											0													134.0	104.0	114.0					16																	19702748		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2601G>A	16.37:g.19702748G>A			A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	NULL	p.V956	ENST00000251143.5	37	c.2868		16																																																																																			C16orf62	-	NULL	ENSG00000103544		0.547	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	HGNC	protein_coding		104	0.00	0	G	NM_020314		19702748	19702748	+1	no_errors	ENST00000438132	ensembl	human	known	69_37n	silent	93	33.09	46	SNP	1.000	A
C18orf21	83608	genome.wustl.edu	37	18	33554980	33554980	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr18:33554980T>C	ENST00000592875.1	+	3	868	c.222T>C	c.(220-222)aaT>aaC	p.N74N	C18orf21_ENST00000333234.5_5'UTR	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	74										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						AACTTCTTAATCGAGAAGCGA	0.393																																						dbGAP											0													93.0	95.0	94.0					18																	33554980		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.222T>C	18.37:g.33554980T>C			Q6GW03|Q9BXV6|Q9BXW2	Silent	SNP	NULL	p.N74	ENST00000592875.1	37	c.222	CCDS11916.2	18																																																																																			C18orf21	-	NULL	ENSG00000141428		0.393	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf21	HGNC	protein_coding	OTTHUMT00000250364.1	106	0.00	0	T	NM_031446		33554980	33554980	+1	no_errors	ENST00000592875	ensembl	human	known	69_37n	silent	68	41.88	49	SNP	1.000	C
C1orf106	55765	genome.wustl.edu	37	1	200860730	200860730	+	Frame_Shift_Del	DEL	G	G	-	rs200890960		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:200860730delG	ENST00000367342.4	+	1	262	c.62delG	c.(61-63)cggfs	p.R21fs		NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	21								p.E23fs*90(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AGGGAGGCTCGGGGGGAGGGA	0.627																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											25.0	29.0	27.0					1																	200860730		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.62delG	1.37:g.200860730delG	ENSP00000356311:p.Arg21fs		B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Frame_Shift_Del	DEL	pfam_DUF3338	p.E23fs	ENST00000367342.4	37	c.62		1																																																																																			C1orf106	-	NULL	ENSG00000163362		0.627	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2	47	0.00	0	G	NM_018265		200860730	200860730	+1	no_errors	ENST00000367342	ensembl	human	known	69_37n	frame_shift_del	46	17.86	10	DEL	0.023	-
RTCB	51493	genome.wustl.edu	37	22	32794005	32794006	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:32794005_32794006insT	ENST00000216038.5	-	7	834_835	c.736_737insA	c.(736-738)atgfs	p.M246fs	RTCB_ENST00000476619.1_5'Flank|RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.M246fs*11(1)									GTCGATGCCCATTTTTTTAGCA	0.46																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.737dupA	22.37:g.32794012_32794012dupT	ENSP00000216038:p.Met246fs			Frame_Shift_Ins	INS	pfam_RtcB_family,superfamily_RtcB_family	p.M246fs	ENST00000216038.5	37	c.737_736	CCDS13905.1	22																																																																																			C22orf28	-	pfam_RtcB_family,superfamily_RtcB_family	ENSG00000100220		0.460	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf28	HGNC	protein_coding	OTTHUMT00000075188.3	186	0.00	0	-	NM_014306		32794005	32794006	-1	no_errors	ENST00000216038	ensembl	human	known	69_37n	frame_shift_ins	115	19.01	27	INS	1.000:1.000	T
C2CD3	26005	genome.wustl.edu	37	11	73809238	73809238	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:73809238T>C	ENST00000334126.7	-	16	3021	c.2795A>G	c.(2794-2796)tAc>tGc	p.Y932C	C2CD3_ENST00000313663.7_Missense_Mutation_p.Y932C			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	932					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CACAGGCATGTAGCTGTCGAC	0.433																																						dbGAP											0													86.0	85.0	86.0					11																	73809238		2200	4293	6493	-	-	-	SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2795A>G	11.37:g.73809238T>C	ENSP00000334379:p.Tyr932Cys		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.Y932C	ENST00000334126.7	37	c.2795		11	.	.	.	.	.	.	.	.	.	.	T	17.75	3.466881	0.63625	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.46063	0.88;0.88	5.62	4.46	0.54185	.	0.126543	0.56097	D	0.000038	T	0.57858	0.2082	L	0.55481	1.735	0.38644	D	0.951676	D	0.89917	1.0	D	0.91635	0.999	T	0.61695	-0.7010	10	0.56958	D	0.05	-6.3382	11.9665	0.53038	0.0:0.0:0.2736:0.7264	.	932	Q4AC94-1	.	C	932	ENSP00000334379:Y932C;ENSP00000323339:Y932C	ENSP00000323339:Y932C	Y	-	2	0	C2CD3	73486886	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.171000	0.42453	1.007000	0.39238	0.528000	0.53228	TAC	C2CD3	-	NULL	ENSG00000168014		0.433	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		71	0.00	0	T	NM_015531		73809238	73809238	-1	no_errors	ENST00000334126	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	1.000	C
C2CD3	26005	genome.wustl.edu	37	11	73829363	73829364	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:73829363_73829364insT	ENST00000334126.7	-	9	1655_1656	c.1429_1430insA	c.(1429-1431)atafs	p.I477fs	C2CD3_ENST00000313663.7_Frame_Shift_Ins_p.I477fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	477					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGACTGGCTTATTTTTTTAGAA	0.431																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1430dupA	11.37:g.73829370_73829370dupT	ENSP00000334379:p.Ile477fs		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Frame_Shift_Ins	INS	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.I477fs	ENST00000334126.7	37	c.1430_1429		11																																																																																			C2CD3	-	NULL	ENSG00000168014		0.431	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		131	0.00	0	-	NM_015531		73829363	73829364	-1	no_errors	ENST00000334126	ensembl	human	known	69_37n	frame_shift_ins	145	12.65	21	INS	0.967:0.966	T
C2orf78	388960	genome.wustl.edu	37	2	74042414	74042414	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:74042414delA	ENST00000409561.1	+	3	1185	c.1064delA	c.(1063-1065)gaafs	p.E355fs		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	355										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCAAGCCAGGAAAAAAATGAG	0.423																																						dbGAP											0													45.0	44.0	45.0					2																	74042414		1859	4111	5970	-	-	-	SO:0001589	frameshift_variant	0			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1064delA	2.37:g.74042414delA	ENSP00000387124:p.Glu355fs			Frame_Shift_Del	DEL	NULL	p.N357fs	ENST00000409561.1	37	c.1064	CCDS46338.1	2																																																																																			C2orf78	-	NULL	ENSG00000187833		0.423	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1	48	0.00	0	A	NM_001080474		74042414	74042414	+1	no_errors	ENST00000409561	ensembl	human	novel	69_37n	frame_shift_del	59	13.24	9	DEL	0.065	-
C3orf62	375341	genome.wustl.edu	37	3	49313959	49313959	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:49313959C>T	ENST00000343010.3	-	1	1383	c.347G>A	c.(346-348)aGc>aAc	p.S116N	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	116										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATTTTCCTTGCTGGTTAGAGG	0.468																																						dbGAP											0													135.0	131.0	133.0					3																	49313959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.347G>A	3.37:g.49313959C>T	ENSP00000341139:p.Ser116Asn		Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	NULL	p.S116N	ENST00000343010.3	37	c.347	CCDS2792.1	3	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425410	0.83667	.	.	ENSG00000188315	ENST00000343010;ENST00000436325	T;T	0.60548	0.2;0.18	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000010	T	0.65811	0.2727	L	0.34521	1.04	0.35717	D	0.816862	D	0.76494	0.999	D	0.83275	0.996	T	0.74140	-0.3761	10	0.87932	D	0	-21.5617	13.533	0.61633	0.0:1.0:0.0:0.0	.	116	Q6ZUJ4	CC062_HUMAN	N	116;114	ENSP00000341139:S116N;ENSP00000413663:S114N	ENSP00000341139:S116N	S	-	2	0	C3orf62	49288963	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.505000	0.45424	2.570000	0.86706	0.650000	0.86243	AGC	C3orf62	-	NULL	ENSG00000188315		0.468	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf62	HGNC	protein_coding	OTTHUMT00000345990.1	285	0.00	0	C	NM_198562		49313959	49313959	-1	no_errors	ENST00000343010	ensembl	human	known	69_37n	missense	218	14.17	36	SNP	1.000	T
MAATS1	89876	genome.wustl.edu	37	3	119451169	119451169	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:119451169G>C	ENST00000273390.5	+	9	1124	c.1047G>C	c.(1045-1047)aaG>aaC	p.K349N		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	347						mitochondrion (GO:0005739)											GAAAGAGAAAGAATATAGAAG	0.368																																						dbGAP											0													78.0	85.0	83.0					3																	119451169		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1047G>C	3.37:g.119451169G>C	ENSP00000273390:p.Lys349Asn		A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	superfamily_S-AdoMet_deCO2ase_core	p.K349N	ENST00000273390.5	37	c.1047	CCDS2994.1	3	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274726	0.23307	.	.	ENSG00000183833	ENST00000273390	T	0.24350	1.86	5.66	2.48	0.30137	.	0.283320	0.37219	N	0.002195	T	0.28995	0.0720	M	0.78801	2.425	0.80722	D	1	B;B;B;B	0.32071	0.024;0.355;0.103;0.029	B;B;B;B	0.36845	0.024;0.234;0.037;0.018	T	0.03555	-1.1025	10	0.32370	T	0.25	-18.5196	7.0501	0.25069	0.2825:0.1243:0.5932:0.0	.	110;287;349;349	Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	.;.;.;.	N	349	ENSP00000273390:K349N	ENSP00000273390:K349N	K	+	3	2	C3orf15	120933859	1.000000	0.71417	0.842000	0.33263	0.871000	0.50021	1.662000	0.37418	0.744000	0.32741	0.563000	0.77884	AAG	C3orf15	-	NULL	ENSG00000183833		0.368	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf15	HGNC	protein_coding	OTTHUMT00000355222.1	66	0.00	0	G	NM_033364		119451169	119451169	+1	no_errors	ENST00000273390	ensembl	human	known	69_37n	missense	43	20.37	11	SNP	0.998	C
C4orf26	152816	genome.wustl.edu	37	4	76489679	76489680	+	3'UTR	INS	-	-	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:76489679_76489680insA	ENST00000311623.4	+	0	458_459				C4orf26_ENST00000435974.2_Frame_Shift_Ins_p.AK156fs	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26							extracellular region (GO:0005576)				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CATACTGAAGCAAAAAAAAGCC	0.361																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK074237	CCDS3569.1, CCDS56334.1, CCDS75142.1	4q21.1	2012-10-31			ENSG00000174792	ENSG00000174792			26300	protein-coding gene	gene with protein product		614829				22901946	Standard	NM_001206981		Approved	FLJ23657	uc011cbo.2	Q17RF5	OTTHUMG00000130104	ENST00000311623.4:c.*31->A	4.37:g.76489687_76489687dupA			B4DTI3|E7ETQ0|Q8TEC3	Frame_Shift_Ins	INS	NULL	p.S159fs	ENST00000311623.4	37	c.467_468	CCDS3569.1	4																																																																																			C4orf26	-	NULL	ENSG00000174792		0.361	C4orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf26	HGNC	protein_coding	OTTHUMT00000252410.1	44	0.00	0	-	NM_178497		76489679	76489680	+1	no_errors	ENST00000435974	ensembl	human	putative	69_37n	frame_shift_ins	23	39.47	15	INS	0.032:0.001	A
C4orf50	389197	genome.wustl.edu	37	4	5966750	5966750	+	Splice_Site	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:5966750C>A	ENST00000324058.5	-	6	669		c.e6+1		C4orf50_ENST00000531445.1_Splice_Site			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGCCTTCTCACCTTCAGAGAA	0.458																																						dbGAP											0													71.0	72.0	72.0					4																	5966750		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.579+1G>T	4.37:g.5966750C>A				Splice_Site	SNP	-	e6+1	ENST00000324058.5	37	c.2001+1		4	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426432	0.25726	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	.	.	.	3.24	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2474	0.43350	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C4orf50	6017651	1.000000	0.71417	0.998000	0.56505	0.347000	0.29111	2.602000	0.46257	2.132000	0.65825	0.591000	0.81541	.	C4orf50	-	-	ENSG00000181215		0.458	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	HGNC	protein_coding		72	0.00	0	C	NM_207405	Intron	5966750	5966750	-1	no_errors	ENST00000531445	ensembl	human	known	69_37n	splice_site	37	45.59	31	SNP	0.998	A
C6	729	genome.wustl.edu	37	5	41181560	41181560	+	Frame_Shift_Del	DEL	C	C	-	rs372345940		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:41181560delC	ENST00000263413.3	-	7	1092	c.828delG	c.(826-828)gggfs	p.G276fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Del_p.G276fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	276	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGAAAGAGCTCCCCCCCTGAC	0.378																																						dbGAP											0			GRCh37	CD982526	C6	D							88.0	88.0	88.0					5																	41181560		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.828delG	5.37:g.41181560delC	ENSP00000263413:p.Gly276fs			Frame_Shift_Del	DEL	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.S277fs	ENST00000263413.3	37	c.828	CCDS3936.1	5																																																																																			C6	-	NULL	ENSG00000039537		0.378	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	187	0.00	0	C			41181560	41181560	-1	no_errors	ENST00000263413	ensembl	human	known	69_37n	frame_shift_del	151	17.49	32	DEL	0.000	-
C8B	732	genome.wustl.edu	37	1	57409414	57409414	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:57409414C>A	ENST00000371237.4	-	8	1255	c.1189G>T	c.(1189-1191)Ggt>Tgt	p.G397C	C8B_ENST00000543257.1_Missense_Mutation_p.G345C|C8B_ENST00000535057.1_Missense_Mutation_p.G335C	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	397	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAGACACACCCAGACTGACG	0.413																																						dbGAP											0													232.0	198.0	210.0					1																	57409414		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1189G>T	1.37:g.57409414C>A	ENSP00000360281:p.Gly397Cys		A1L4K7	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.G397C	ENST00000371237.4	37	c.1189	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019023	0.75275	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.84730	-1.89;-1.89;-1.89	4.59	4.59	0.56863	Membrane attack complex component/perforin (MACPF) domain (3);	0.104089	0.64402	D	0.000004	D	0.92681	0.7674	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.93266	0.6647	10	0.72032	D	0.01	-15.3718	17.2004	0.86904	0.0:1.0:0.0:0.0	.	345;335;397	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	C	397;345;335	ENSP00000360281:G397C;ENSP00000442548:G345C;ENSP00000440113:G335C	ENSP00000360281:G397C	G	-	1	0	C8B	57182002	0.828000	0.29307	0.670000	0.29842	0.006000	0.05464	3.785000	0.55424	2.838000	0.97847	0.655000	0.94253	GGT	C8B	-	pfam_MACPF,smart_MACPF	ENSG00000021852		0.413	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	236	0.00	0	C			57409414	57409414	-1	no_errors	ENST00000371237	ensembl	human	known	69_37n	missense	131	17.61	28	SNP	0.958	A
CA10	56934	genome.wustl.edu	37	17	49710906	49710906	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:49710906T>C	ENST00000285273.4	-	9	2006	c.895A>G	c.(895-897)Acc>Gcc	p.T299A	CA10_ENST00000570565.1_Missense_Mutation_p.T224A|CA10_ENST00000442502.2_Missense_Mutation_p.T299A|CA10_ENST00000571918.1_5'Flank|CA10_ENST00000451037.2_Missense_Mutation_p.T299A|CA10_ENST00000340813.6_Missense_Mutation_p.T305A	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	299					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTGATATTGGTGCGGATGCAG	0.527																																						dbGAP											0													137.0	120.0	126.0					17																	49710906		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.895A>G	17.37:g.49710906T>C	ENSP00000285273:p.Thr299Ala		B2R7J0|B4DGL6	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.T305A	ENST00000285273.4	37	c.913	CCDS32684.1	17	.	.	.	.	.	.	.	.	.	.	T	22.4	4.286014	0.80803	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.44	4.35	0.52113	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.049084	0.85682	D	0.000000	T	0.55433	0.1920	N	0.17674	0.51	0.80722	D	1	P;D;D	0.76494	0.934;0.966;0.999	P;P;D	0.74674	0.654;0.654;0.984	T	0.51276	-0.8726	10	0.06365	T	0.9	.	11.8905	0.52626	0.0:0.0:0.146:0.854	.	299;305;224	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	A	299;299;299;305	ENSP00000390666:T299A;ENSP00000285273:T299A;ENSP00000405388:T299A;ENSP00000340363:T305A	ENSP00000285273:T299A	T	-	1	0	CA10	47065905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.884000	0.87274	0.885000	0.36088	0.533000	0.62120	ACC	CA10	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000154975		0.527	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	157	0.00	0	T	NM_020178		49710906	49710906	-1	no_errors	ENST00000340813	ensembl	human	known	69_37n	missense	171	13.64	27	SNP	1.000	C
CAB39L	81617	genome.wustl.edu	37	13	49933960	49933960	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:49933960delT	ENST00000355854.4	-	4	782	c.285delA	c.(283-285)aaafs	p.K95fs	CAB39L_ENST00000410043.1_Frame_Shift_Del_p.K95fs|CAB39L_ENST00000409308.1_Frame_Shift_Del_p.K95fs|CAB39L_ENST00000347776.5_Frame_Shift_Del_p.K95fs	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	95					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		GGGTCACATCTTTTTTTCCCT	0.333																																						dbGAP											0													105.0	100.0	101.0					13																	49933960		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.285delA	13.37:g.49933960delT	ENSP00000348113:p.Lys95fs		Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Frame_Shift_Del	DEL	pfam_Mo25,superfamily_ARM-type_fold	p.D96fs	ENST00000355854.4	37	c.285	CCDS9416.2	13																																																																																			CAB39L	-	pfam_Mo25,superfamily_ARM-type_fold	ENSG00000102547		0.333	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39L	HGNC	protein_coding	OTTHUMT00000044908.3	86	0.00	0	T	NM_030925		49933960	49933960	-1	no_errors	ENST00000347776	ensembl	human	known	69_37n	frame_shift_del	103	16.94	21	DEL	1.000	-
CACNA1E	777	genome.wustl.edu	37	1	181754521	181754521	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:181754521G>T	ENST00000367573.2	+	42	5646	c.5646G>T	c.(5644-5646)aaG>aaT	p.K1882N	CACNA1E_ENST00000367567.4_Missense_Mutation_p.K1489N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.K1814N|CACNA1E_ENST00000526775.1_Missense_Mutation_p.K1863N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.K1863N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.K1882N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.K1833N	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1882					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCAGAGTAAGGTGAAGAAGC	0.498																																						dbGAP											0													67.0	68.0	68.0					1																	181754521		2122	4251	6373	-	-	-	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5646G>T	1.37:g.181754521G>T	ENSP00000356545:p.Lys1882Asn		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.K1882N	ENST00000367573.2	37	c.5646	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614651	0.66672	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.37	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	M	0.73598	2.24	0.80722	D	1	P;P	0.46578	0.88;0.487	P;B	0.50378	0.639;0.203	T	0.78219	-0.2289	10	0.87932	D	0	.	6.9701	0.24644	0.3587:0.0:0.6413:0.0	.	1863;1882	Q15878-2;Q15878-3	.;.	N	1882;1863;1833;1814;1489;1863;1882	ENSP00000356542:K1882N;ENSP00000434814:K1863N;ENSP00000350183:K1833N;ENSP00000351101:K1814N;ENSP00000356539:K1489N;ENSP00000353222:K1863N;ENSP00000356545:K1882N	ENSP00000350183:K1833N	K	+	3	2	CACNA1E	180021144	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.791000	0.38744	1.397000	0.46682	0.563000	0.77884	AAG	CACNA1E	-	pfam_VDCC_a1su_IQ	ENSG00000198216		0.498	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	117	0.00	0	G	NM_000721		181754521	181754521	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	107	19.55	26	SNP	1.000	T
CACNA2D2	9254	genome.wustl.edu	37	3	50403245	50403245	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:50403245C>T	ENST00000479441.1	-	34	2931	c.2932G>A	c.(2932-2934)Gcc>Acc	p.A978T	CACNA2D2_ENST00000424201.2_Missense_Mutation_p.A971T|XXcos-LUCA11.4_ENST00000607362.1_RNA|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.A971T|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.A972T|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.A979T|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.A902T|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.A978T|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.A971T|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	978					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ACTCACCAGGCGGCAGCAGAG	0.642																																						dbGAP											0													36.0	34.0	35.0					3																	50403245		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2932G>A	3.37:g.50403245C>T	ENSP00000418081:p.Ala978Thr		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A978T	ENST00000479441.1	37	c.2932	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.072000	0.93950	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.11	3.29	0.37713	.	0.000000	0.85682	D	0.000000	D	0.82728	0.5100	M	0.77820	2.39	0.50813	D	0.999895	D;D	0.60160	0.977;0.987	B;P	0.50049	0.425;0.629	T	0.80725	-0.1254	10	0.41790	T	0.15	.	10.1714	0.42913	0.0:0.7876:0.1371:0.0753	.	978;971	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	T	979;972;971;902;978;971;971;978	ENSP00000407393:A979T;ENSP00000404631:A972T;ENSP00000266039:A971T;ENSP00000354228:A902T;ENSP00000390526:A978T;ENSP00000378519:A971T;ENSP00000390329:A971T;ENSP00000418081:A978T	ENSP00000266039:A971T	A	-	1	0	CACNA2D2	50378249	1.000000	0.71417	0.542000	0.28115	0.995000	0.86356	4.590000	0.61013	0.534000	0.28695	0.561000	0.74099	GCC	CACNA2D2	-	NULL	ENSG00000007402		0.642	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	36	0.00	0	C	NM_006030		50403245	50403245	-1	no_errors	ENST00000435965	ensembl	human	known	69_37n	missense	40	12.77	6	SNP	0.991	T
CACNA2D3	55799	genome.wustl.edu	37	3	54537654	54537654	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:54537654C>A	ENST00000474759.1	+	5	565	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.Q173K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.Q173K|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.Q79K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	173						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AAGTGACGTCCAAGTACCAAC	0.453																																						dbGAP											0													73.0	66.0	68.0					3																	54537654		1875	4115	5990	-	-	-	SO:0001583	missense	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.517C>A	3.37:g.54537654C>A	ENSP00000419101:p.Gln173Lys		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.Q173K	ENST00000474759.1	37	c.517	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998566	0.93227	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000492460;ENST00000398624;ENST00000438476	T;T;T;T;T	0.44482	3.09;3.09;3.09;3.1;0.92	5.72	5.72	0.89469	VWA N-terminal (1);	0.062767	0.64402	D	0.000003	T	0.66237	0.2769	M	0.76838	2.35	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	T	0.60026	-0.7343	10	0.20046	T	0.44	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	173	Q8IZS8	CA2D3_HUMAN	K	173;173;173;79;79;79;78	ENSP00000389506:Q173K;ENSP00000419101:Q173K;ENSP00000288197:Q173K;ENSP00000417279:Q79K;ENSP00000418028:Q79K	ENSP00000288197:Q173K	Q	+	1	0	CACNA2D3	54512694	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.742000	0.85008	2.691000	0.91804	0.655000	0.94253	CAA	CACNA2D3	-	pfam_VWA_N	ENSG00000157445		0.453	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	84	0.00	0	C			54537654	54537654	+1	no_errors	ENST00000288197	ensembl	human	known	69_37n	missense	75	14.77	13	SNP	1.000	A
CAMSAP2	23271	genome.wustl.edu	37	1	200819218	200819218	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:200819218delA	ENST00000236925.4	+	12	3403	c.3354delA	c.(3352-3354)ccafs	p.P1118fs	CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.P1091fs|CAMSAP2_ENST00000358823.2_Frame_Shift_Del_p.P1107fs			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1118					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CCACTGCTCCAAAAAATGTTA	0.433																																						dbGAP											0													116.0	127.0	123.0					1																	200819218		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3354delA	1.37:g.200819218delA	ENSP00000236925:p.Pro1118fs		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Frame_Shift_Del	DEL	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.N1120fs	ENST00000236925.4	37	c.3354		1																																																																																			CAMSAP2	-	NULL	ENSG00000118200		0.433	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	192	0.00	0	A	NM_203459		200819218	200819218	+1	no_errors	ENST00000236925	ensembl	human	known	69_37n	frame_shift_del	184	16.52	37	DEL	0.388	-
CAMSAP2	23271	genome.wustl.edu	37	1	200826904	200826904	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:200826904A>G	ENST00000236925.4	+	18	4236	c.4187A>G	c.(4186-4188)aAc>aGc	p.N1396S	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.N1369S|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.N1385S			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1396	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TCAGATGCCAACAACTTCTTA	0.318																																						dbGAP											0													69.0	74.0	72.0					1																	200826904		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.4187A>G	1.37:g.200826904A>G	ENSP00000236925:p.Asn1396Ser		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.N1396S	ENST00000236925.4	37	c.4187		1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.248491	0.59103	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.18016	2.24;2.24;2.25	5.44	5.44	0.79542	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.039342	0.85682	D	0.000000	T	0.36386	0.0965	M	0.73962	2.25	0.80722	D	1	B;B;P	0.37122	0.025;0.387;0.583	B;P;P	0.49887	0.09;0.625;0.609	T	0.09164	-1.0687	10	0.54805	T	0.06	-32.3999	15.801	0.78453	1.0:0.0:0.0:0.0	.	1369;1396;1385	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	S	1385;1369;1396	ENSP00000351684:N1385S;ENSP00000416800:N1369S;ENSP00000236925:N1396S	ENSP00000236925:N1396S	N	+	2	0	CAMSAP1L1	199093527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.366000	0.79548	2.194000	0.70268	0.460000	0.39030	AAC	CAMSAP2	-	pfam_CKK_domain,superfamily_PRC_barrell-like	ENSG00000118200		0.318	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	62	0.00	0	A	NM_203459		200826904	200826904	+1	no_errors	ENST00000236925	ensembl	human	known	69_37n	missense	48	23.81	15	SNP	1.000	G
CARS	833	genome.wustl.edu	37	11	3062149	3062149	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:3062149G>A	ENST00000397111.5	-	3	428	c.183C>T	c.(181-183)gaC>gaT	p.D61D	CARS_ENST00000397114.3_Silent_p.D51D|CARS_ENST00000401769.3_Silent_p.D74D|CARS_ENST00000278224.9_Silent_p.D61D|CARS_ENST00000380525.4_Silent_p.D144D|CARS-AS1_ENST00000499962.1_RNA			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	61					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TGTGAGATGCGTCATAGACGG	0.537			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	dbGAP		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													245.0	178.0	201.0					11																	3062149		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.183C>T	11.37:g.3062149G>A			Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt	p.D144	ENST00000397111.5	37	c.432	CCDS7742.1	11																																																																																			CARS	-	pfam_Cys-tRNA/MSH_ligase,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt	ENSG00000110619		0.537	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	111	0.00	0	G	NM_001751		3062149	3062149	-1	no_errors	ENST00000380525	ensembl	human	known	69_37n	silent	89	14.42	15	SNP	0.993	A
CASKIN2	57513	genome.wustl.edu	37	17	73500659	73500659	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:73500659G>A	ENST00000321617.3	-	12	1894	c.1308C>T	c.(1306-1308)aaC>aaT	p.N436N	CASKIN2_ENST00000433559.2_Silent_p.N354N	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	436						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTACCTGGGCGTTCTCAATCA	0.647																																						dbGAP											0													36.0	33.0	34.0					17																	73500659		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1308C>T	17.37:g.73500659G>A			B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain	p.N436	ENST00000321617.3	37	c.1308	CCDS11723.1	17																																																																																			CASKIN2	-	NULL	ENSG00000177303		0.647	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	28	0.00	0	G	NM_020753		73500659	73500659	-1	no_errors	ENST00000321617	ensembl	human	known	69_37n	silent	29	17.14	6	SNP	0.008	A
CAT	847	genome.wustl.edu	37	11	34490058	34490058	+	Intron	DEL	A	A	-	rs534253738		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:34490058delA	ENST00000241052.4	+	11	1523					NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase						aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	AAGAGAACTTAAAAAAAAAAA	0.393																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1434+116A>-	11.37:g.34490058delA			A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	RNA	DEL	-	NULL	ENST00000241052.4	37	NULL	CCDS7891.1	11																																																																																			CAT	-	-	ENSG00000121691		0.393	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAT	HGNC	protein_coding	OTTHUMT00000103197.2	20	0.00	0	A	NM_001752		34490058	34490058	+1	no_errors	ENST00000525707	ensembl	human	putative	69_37n	rna	8	30.77	4	DEL	0.000	-
CBX8	57332	genome.wustl.edu	37	17	77770082	77770082	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:77770082A>G	ENST00000269385.4	-	3	263	c.146T>C	c.(145-147)cTg>cCg	p.L49P	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	49	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCGAGCATCCAGGATGTTTTC	0.547																																						dbGAP											0													167.0	157.0	160.0					17																	77770082		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.146T>C	17.37:g.77770082A>G	ENSP00000269385:p.Leu49Pro		Q96H39|Q9NR07	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.L49P	ENST00000269385.4	37	c.146	CCDS11765.1	17	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152553	0.57259	.	.	ENSG00000141570	ENST00000269385;ENST00000427800;ENST00000413392	D;D;D	0.82526	-1.62;-1.62;-1.62	4.54	4.54	0.55810	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.64402	D	0.000001	D	0.91081	0.7193	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92421	0.5945	10	0.72032	D	0.01	-11.9051	14.1716	0.65512	1.0:0.0:0.0:0.0	.	49	Q9HC52	CBX8_HUMAN	P	49;24;39	ENSP00000269385:L49P;ENSP00000408753:L24P;ENSP00000405058:L39P	ENSP00000269385:L49P	L	-	2	0	CBX8	75384677	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	8.910000	0.92685	1.819000	0.53055	0.459000	0.35465	CTG	CBX8	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000141570		0.547	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	HGNC	protein_coding	OTTHUMT00000318011.1	101	0.00	0	A	NM_020649		77770082	77770082	-1	no_errors	ENST00000269385	ensembl	human	known	69_37n	missense	118	13.87	19	SNP	1.000	G
CBX4	8535	genome.wustl.edu	37	17	77808811	77808811	+	Silent	SNP	C	C	T	rs200728320		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:77808811C>T	ENST00000269397.4	-	5	807	c.630G>A	c.(628-630)gcG>gcA	p.A210A		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	210	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGGGCTTCACCGCCCCCAGGT	0.721											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													29.0	37.0	34.0					17																	77808811		2185	4251	6436	-	-	-	SO:0001819	synonymous_variant	0			AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.630G>A	17.37:g.77808811C>T		1178	B1PJR7|Q6TPI8|Q96C04	Silent	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow	p.A210	ENST00000269397.4	37	c.630	CCDS32758.1	17																																																																																			CBX4	-	NULL	ENSG00000141582		0.721	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX4	HGNC	protein_coding	OTTHUMT00000318007.1	42	0.00	0	C	NM_003655		77808811	77808811	-1	no_errors	ENST00000269397	ensembl	human	known	69_37n	silent	51	17.74	11	SNP	0.118	T
DRC7	84229	genome.wustl.edu	37	16	57760118	57760118	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:57760118G>A	ENST00000360716.3	+	14	2118	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	CCDC135_ENST00000394337.4_Missense_Mutation_p.E633K|CCDC135_ENST00000336825.8_Missense_Mutation_p.E568K			Q8IY82	CC135_HUMAN		633					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTCCAAGCGCGAGTTCCTGCG	0.662																																						dbGAP											0													70.0	63.0	65.0					16																	57760118		2198	4300	6498	-	-	-	SO:0001583	missense	0																														ENST00000360716.3:c.1897G>A	16.37:g.57760118G>A	ENSP00000353942:p.Glu633Lys		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	NULL	p.E633K	ENST00000360716.3	37	c.1897	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	g	25.6	4.654280	0.88056	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10960	2.99;2.82;2.99	4.98	4.98	0.66077	.	0.370467	0.28653	N	0.014591	T	0.33000	0.0848	M	0.81497	2.545	0.45250	D	0.998252	D;D	0.89917	1.0;1.0	D;D	0.69479	0.926;0.964	T	0.09618	-1.0666	10	0.20519	T	0.43	-38.7139	16.842	0.85971	0.0:0.0:1.0:0.0	.	568;633	Q8IY82-2;Q8IY82	.;CC135_HUMAN	K	633;568;633	ENSP00000377869:E633K;ENSP00000338938:E568K;ENSP00000353942:E633K	ENSP00000338938:E568K	E	+	1	0	CCDC135	56317619	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	4.681000	0.61663	2.325000	0.78763	0.655000	0.94253	GAG	CCDC135	-	NULL	ENSG00000159625		0.662	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2	37	0.00	0	G			57760118	57760118	+1	no_errors	ENST00000360716	ensembl	human	known	69_37n	missense	49	15.52	9	SNP	1.000	A
CFAP58	159686	genome.wustl.edu	37	10	106136572	106136572	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:106136572T>C	ENST00000369704.3	+	8	1228	c.1094T>C	c.(1093-1095)gTa>gCa	p.V365A	CCDC147_ENST00000312902.5_5'UTR|CCDC147_ENST00000369703.1_5'Flank	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		365						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GATTCAGAGGTAGAGGCTTCA	0.393																																						dbGAP											0													98.0	93.0	95.0					10																	106136572		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000369704.3:c.1094T>C	10.37:g.106136572T>C	ENSP00000358718:p.Val365Ala		D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.V365A	ENST00000369704.3	37	c.1094	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	T	12.08	1.829971	0.32329	.	.	ENSG00000120051	ENST00000369704	T	0.33438	1.41	5.98	5.98	0.97165	.	0.195954	0.44902	D	0.000401	T	0.30541	0.0768	L	0.31926	0.97	0.80722	D	1	B	0.28783	0.222	B	0.35727	0.209	T	0.09100	-1.0690	10	0.56958	D	0.05	-16.1994	15.0333	0.71725	0.0:0.0:0.0:1.0	.	365	Q5T655	CC147_HUMAN	A	365	ENSP00000358718:V365A	ENSP00000358718:V365A	V	+	2	0	CCDC147	106126562	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	5.648000	0.67930	2.289000	0.77006	0.533000	0.62120	GTA	CCDC147	-	NULL	ENSG00000120051		0.393	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	74	0.00	0	T			106136572	106136572	+1	no_errors	ENST00000369704	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	1.000	C
CCDC149	91050	genome.wustl.edu	37	4	24824159	24824159	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:24824159delT	ENST00000389609.4	-	11	1145	c.1002delA	c.(1000-1002)aaafs	p.K334fs	CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000508236.1_5'UTR|CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Frame_Shift_Del_p.K334fs	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	279										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				GAGTTCTTAATTTTTTTTCCA	0.388																																						dbGAP											0													61.0	59.0	60.0					4																	24824159		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.1002delA	4.37:g.24824159delT	ENSP00000374260:p.Lys334fs		A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Frame_Shift_Del	DEL	pfam_Coiled-coil_dom-contain_pr_149	p.K334fs	ENST00000389609.4	37	c.1002	CCDS33967.2	4																																																																																			CCDC149	-	pfam_Coiled-coil_dom-contain_pr_149	ENSG00000181982		0.388	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC149	HGNC	protein_coding	OTTHUMT00000360157.1	109	0.00	0	T	NM_173463		24824159	24824159	-1	no_errors	ENST00000504487	ensembl	human	known	69_37n	frame_shift_del	120	17.01	25	DEL	0.997	-
CCDC36	339834	genome.wustl.edu	37	3	49282178	49282178	+	Intron	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:49282178A>G	ENST00000438782.1	+	6	768				CCDC36_ENST00000451634.2_Silent_p.S155S|CCDC36_ENST00000296449.5_Intron|CCDC36_ENST00000452691.2_Intron|CCDC36_ENST00000366429.2_Silent_p.S165S			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36											endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TGAGTGCCTCATGTTTGAGGT	0.483																																						dbGAP											0													93.0	87.0	89.0					3																	49282178		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.532+12A>G	3.37:g.49282178A>G			C9JJL0|Q05DG9|Q96LP7	Silent	SNP	NULL	p.S165	ENST00000438782.1	37	c.495	CCDS33755.2	3																																																																																			CCDC36	-	NULL	ENSG00000173421		0.483	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC36	HGNC	protein_coding	OTTHUMT00000342332.1	77	0.00	0	A	NM_178173		49282178	49282178	+1	no_errors	ENST00000366429	ensembl	human	known	69_37n	silent	64	14.47	11	SNP	0.000	G
CCDC7	79741	genome.wustl.edu	37	10	32745249	32745251	+	In_Frame_Del	DEL	AAG	AAG	-	rs371686762		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:32745249_32745251delAAG	ENST00000362006.5	+	4	986_988	c.443_445delAAG	c.(442-447)aaagaa>aaa	p.E150del	CCDC7_ENST00000277657.6_In_Frame_Del_p.E150del|CCDC7_ENST00000545067.1_In_Frame_Del_p.E150del|CCDC7_ENST00000535327.1_In_Frame_Del_p.E150del|CCDC7_ENST00000537047.1_In_Frame_Del_p.E150del|CCDC7_ENST00000539197.1_In_Frame_Del_p.E150del	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	150										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GAAGCACTTAAAGAAGAACAAAA	0.31																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.443_445delAAG	10.37:g.32745252_32745254delAAG	ENSP00000355078:p.Glu150del		Q5VW55|Q8IVQ0|Q8NEQ0	In_Frame_Del	DEL	NULL	p.E150in_frame_del	ENST00000362006.5	37	c.443_445	CCDS7173.1	10																																																																																			CCDC7	-	NULL	ENSG00000216937		0.310	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1	105	0.00	0	AAG	NM_145023		32745249	32745251	+1	no_errors	ENST00000277657	ensembl	human	known	69_37n	in_frame_del	80	17.53	17	DEL	0.115:0.043:0.968	-
CCDC92	80212	genome.wustl.edu	37	12	124428025	124428025	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:124428025C>T	ENST00000238156.3	-	3	404	c.50G>A	c.(49-51)aGc>aAc	p.S17N	CCDC92_ENST00000545135.1_5'UTR|CCDC92_ENST00000545891.1_5'UTR|CCDC92_ENST00000544798.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	17						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GGCTGCCATGCTGACATCCAG	0.632																																						dbGAP											0													116.0	103.0	108.0					12																	124428025		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.50G>A	12.37:g.124428025C>T	ENSP00000238156:p.Ser17Asn		B3KNQ0|Q9H697	Missense_Mutation	SNP	NULL	p.S17N	ENST00000238156.3	37	c.50	CCDS9256.1	12	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876531	0.51801	.	.	ENSG00000119242	ENST00000238156;ENST00000539761;ENST00000539551	T;T;T	0.47177	1.88;0.86;0.85	5.77	1.69	0.24217	.	0.533891	0.23718	N	0.045252	T	0.32675	0.0837	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.09818	-1.0657	10	0.51188	T	0.08	-4.9692	5.8257	0.18552	0.1328:0.5418:0.2564:0.069	.	17	Q53HC0	CCD92_HUMAN	N	17	ENSP00000238156:S17N;ENSP00000439441:S17N;ENSP00000442369:S17N	ENSP00000238156:S17N	S	-	2	0	CCDC92	122993978	0.996000	0.38824	0.999000	0.59377	0.992000	0.81027	0.413000	0.21148	0.350000	0.24002	0.561000	0.74099	AGC	CCDC92	-	NULL	ENSG00000119242		0.632	CCDC92-001	KNOWN	basic|CCDS	protein_coding	CCDC92	HGNC	protein_coding	OTTHUMT00000400780.2	46	0.00	0	C	NM_025140		124428025	124428025	-1	no_errors	ENST00000238156	ensembl	human	known	69_37n	missense	55	21.43	15	SNP	0.997	T
CCDC93	54520	genome.wustl.edu	37	2	118715997	118715997	+	Missense_Mutation	SNP	G	G	A	rs200247512		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:118715997G>A	ENST00000376300.2	-	12	1086	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	CCDC93_ENST00000319432.5_Missense_Mutation_p.R316W|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	317								p.R317G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATGACTTTCCGGCGATGTAGC	0.398																																						dbGAP											2	Substitution - Missense(2)	prostate(1)|breast(1)											125.0	109.0	114.0					2																	118715997		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.949C>T	2.37:g.118715997G>A	ENSP00000365477:p.Arg317Trp		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	pfam_DUF2037	p.R317W	ENST00000376300.2	37	c.949	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839064	0.51057	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.24723	1.84;1.85	5.33	5.33	0.75918	.	0.124524	0.51477	D	0.000096	T	0.46112	0.1376	L	0.53249	1.67	0.38116	D	0.937714	D	0.89917	1.0	D	0.79784	0.993	T	0.46624	-0.9178	10	0.87932	D	0	-1.4156	14.4662	0.67485	0.0:0.0:1.0:0.0	.	317	Q567U6	CCD93_HUMAN	W	317;316	ENSP00000365477:R317W;ENSP00000324135:R316W	ENSP00000324135:R316W	R	-	1	2	CCDC93	118432467	0.989000	0.36119	0.989000	0.46669	0.138000	0.21146	2.782000	0.47758	2.789000	0.95967	0.558000	0.71614	CGG	CCDC93	-	NULL	ENSG00000125633		0.398	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	HGNC	protein_coding	OTTHUMT00000129615.1	238	0.42	1	G	NM_019044		118715997	118715997	-1	no_errors	ENST00000376300	ensembl	human	known	69_37n	missense	141	33.49	71	SNP	0.993	A
CCIN	881	genome.wustl.edu	37	9	36170592	36170592	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:36170592C>T	ENST00000335119.2	+	1	1204	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	365					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCCCATCGGGCTTGTCTTCCA	0.567																																						dbGAP											0													128.0	113.0	118.0					9																	36170592		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1093C>T	9.37:g.36170592C>T	ENSP00000334996:p.Leu365Phe		Q9BXG7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.L365F	ENST00000335119.2	37	c.1093	CCDS6599.1	9	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574816	0.45902	.	.	ENSG00000185972	ENST00000335119	T	0.46063	0.88	5.77	4.68	0.58851	Kelch-type beta propeller (1);	0.000000	0.48286	D	0.000200	T	0.46483	0.1395	N	0.19112	0.55	0.32742	N	0.507524	D	0.69078	0.997	D	0.81914	0.995	T	0.56300	-0.8002	10	0.72032	D	0.01	.	10.5611	0.45146	0.0:0.8988:0.0:0.1012	.	365	Q13939	CALI_HUMAN	F	365	ENSP00000334996:L365F	ENSP00000334996:L365F	L	+	1	0	CCIN	36160592	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.180000	0.32005	2.721000	0.93114	0.591000	0.81541	CTT	CCIN	-	smart_Kelch_1	ENSG00000185972		0.567	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	HGNC	protein_coding	OTTHUMT00000052418.1	52	0.00	0	C	NM_005893		36170592	36170592	+1	no_errors	ENST00000335119	ensembl	human	known	69_37n	missense	85	12.37	12	SNP	1.000	T
CCNE2	9134	genome.wustl.edu	37	8	95906154	95906154	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:95906154C>G	ENST00000520509.1	-	4	382	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	NDUFAF6_ENST00000396113.1_5'Flank|CCNE2_ENST00000523476.1_5'Flank|CCNE2_ENST00000396133.3_Missense_Mutation_p.E44Q|CCNE2_ENST00000308108.4_Missense_Mutation_p.E44Q			O96020	CCNE2_HUMAN	cyclin E2	44					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GTGACCTCCTCTCTTCTTTTT	0.408																																						dbGAP											0													135.0	139.0	138.0					8																	95906154		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.130G>C	8.37:g.95906154C>G	ENSP00000429089:p.Glu44Gln		O95439	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.E44Q	ENST00000520509.1	37	c.130	CCDS6264.1	8	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881842	0.33255	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000396133	T;T;T	0.31510	1.91;1.91;1.49	5.29	4.41	0.53225	.	0.426202	0.25114	N	0.033038	T	0.22781	0.0550	L	0.35854	1.095	0.26841	N	0.968377	B;B	0.28128	0.059;0.201	B;B	0.23574	0.014;0.047	T	0.11941	-1.0567	10	0.20519	T	0.43	.	12.1265	0.53920	0.0:0.9205:0.0:0.0795	.	44;44	Q8WUE3;O96020	.;CCNE2_HUMAN	Q	44	ENSP00000429089:E44Q;ENSP00000309181:E44Q;ENSP00000379437:E44Q	ENSP00000309181:E44Q	E	-	1	0	CCNE2	95975330	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.606000	0.46291	1.222000	0.43521	0.561000	0.74099	GAG	CCNE2	-	pirsf_Cyclin_A/B/D/E	ENSG00000175305		0.408	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNE2	HGNC	protein_coding	OTTHUMT00000379808.1	269	0.00	0	C	NM_057749, NM_004702		95906154	95906154	-1	no_errors	ENST00000308108	ensembl	human	known	69_37n	missense	374	17.26	78	SNP	1.000	G
CCP110	9738	genome.wustl.edu	37	16	19547763	19547763	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:19547763G>A	ENST00000381396.5	+	4	1019	c.772G>A	c.(772-774)Gag>Aag	p.E258K	CCP110_ENST00000396208.2_Missense_Mutation_p.E258K|CCP110_ENST00000396212.2_Missense_Mutation_p.E258K	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	258					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AATTGTTAATGAGAGTCATTT	0.378																																						dbGAP											0													66.0	66.0	66.0					16																	19547763		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.772G>A	16.37:g.19547763G>A	ENSP00000370803:p.Glu258Lys		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	NULL	p.E258K	ENST00000381396.5	37	c.772	CCDS55992.1	16	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699364	0.88830	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.32272	1.46;1.47;1.46	5.89	5.89	0.94794	.	0.171762	0.50627	D	0.000102	T	0.55816	0.1944	L	0.59436	1.845	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.54139	-0.8338	10	0.87932	D	0	-19.3394	20.2576	0.98430	0.0:0.0:1.0:0.0	.	258;258	O43303;O43303-2	CP110_HUMAN;.	K	258	ENSP00000379515:E258K;ENSP00000370803:E258K;ENSP00000379511:E258K	ENSP00000370803:E258K	E	+	1	0	CCP110	19455264	1.000000	0.71417	0.963000	0.40424	0.957000	0.61999	6.778000	0.75043	2.783000	0.95769	0.655000	0.94253	GAG	CCP110	-	NULL	ENSG00000103540		0.378	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2	52	0.00	0	G	NM_014711		19547763	19547763	+1	no_errors	ENST00000381396	ensembl	human	known	69_37n	missense	40	32.20	19	SNP	0.997	A
CD300LG	146894	genome.wustl.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-648)cgccccfs	p.RP215fs	CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.RP215fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.RP130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.RP181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.RP130fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.651dupC	17.37:g.41931344_41931344dupC	ENSP00000321005:p.Arg215fs		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Frame_Shift_Ins	INS	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.M218fs	ENST00000317310.4	37	c.644_645	CCDS11470.1	17																																																																																			CD300LG	-	NULL	ENSG00000161649		0.629	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD300LG	HGNC	protein_coding	OTTHUMT00000457646.1	45	0.00	0	-	NM_145273		41931337	41931338	+1	no_errors	ENST00000317310	ensembl	human	known	69_37n	frame_shift_ins	40	27.27	15	INS	0.000:0.000	C
CD72	971	genome.wustl.edu	37	9	35616076	35616076	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:35616076C>T	ENST00000396757.1	-	6	716	c.552G>A	c.(550-552)caG>caA	p.Q184Q	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Silent_p.Q184Q			P21854	CD72_HUMAN	CD72 molecule	184					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGCCTGTAGCTGCCCTTCGG	0.592																																						dbGAP											0													176.0	159.0	165.0					9																	35616076		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.552G>A	9.37:g.35616076C>T				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.Q184	ENST00000396757.1	37	c.552	CCDS6581.1	9																																																																																			CD72	-	NULL	ENSG00000137101		0.592	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD72	HGNC	protein_coding	OTTHUMT00000052336.1	87	0.00	0	C	NM_001782		35616076	35616076	-1	no_errors	ENST00000259633	ensembl	human	known	69_37n	silent	88	26.05	31	SNP	0.000	T
CD93	22918	genome.wustl.edu	37	20	23066230	23066230	+	Silent	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:23066230G>T	ENST00000246006.4	-	1	747	c.600C>A	c.(598-600)acC>acA	p.T200T		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	200					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGGTGGTGTAGGTCACCTGAC	0.622																																						dbGAP											0													57.0	64.0	62.0					20																	23066230		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.600C>A	20.37:g.23066230G>T			O00274	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_EG-like_dom,pfscan_C-type_lectin	p.T200	ENST00000246006.4	37	c.600	CCDS13149.1	20																																																																																			CD93	-	pirsf_CD93/CD141	ENSG00000125810		0.622	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	48	0.00	0	G	NM_012072		23066230	23066230	-1	no_errors	ENST00000246006	ensembl	human	known	69_37n	silent	31	20.51	8	SNP	0.546	T
CDC42BPB	9578	genome.wustl.edu	37	14	103442062	103442062	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:103442062T>C	ENST00000361246.2	-	11	1754	c.1466A>G	c.(1465-1467)aAg>aGg	p.K489R		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTCATTTAGCTTTTTGATTTC	0.428																																						dbGAP											0													162.0	162.0	162.0					14																	103442062		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1466A>G	14.37:g.103442062T>C	ENSP00000355237:p.Lys489Arg			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,prints_DAG/PE-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.K489R	ENST00000361246.2	37	c.1466	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	T	13.50	2.255721	0.39896	.	.	ENSG00000198752	ENST00000361246	T	0.65364	-0.15	5.34	-7.41	0.01392	.	0.350509	0.35262	N	0.003324	T	0.34048	0.0884	N	0.12961	0.28	0.40146	D	0.976896	B	0.02656	0.0	B	0.04013	0.001	T	0.01748	-1.1282	10	0.28530	T	0.3	.	10.4559	0.44550	0.0:0.5341:0.1083:0.3576	.	489	Q9Y5S2	MRCKB_HUMAN	R	489	ENSP00000355237:K489R	ENSP00000355237:K489R	K	-	2	0	CDC42BPB	102511815	0.995000	0.38212	0.007000	0.13788	0.822000	0.46500	0.508000	0.22692	-1.337000	0.02236	-0.256000	0.11100	AAG	CDC42BPB	-	NULL	ENSG00000198752		0.428	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	318	0.00	0	T	NM_006035		103442062	103442062	-1	no_errors	ENST00000361246	ensembl	human	known	69_37n	missense	269	17.23	56	SNP	0.952	C
CDH10	1008	genome.wustl.edu	37	5	24535881	24535881	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:24535881C>T	ENST00000264463.4	-	4	1084	c.577G>A	c.(577-579)Ggg>Agg	p.G193R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G193W(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCGCTGTTCCCATATGAAGGG	0.468										HNSCC(23;0.051)																												dbGAP											2	Substitution - Missense(2)	lung(1)|endometrium(1)											133.0	120.0	124.0					5																	24535881		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.577G>A	5.37:g.24535881C>T	ENSP00000264463:p.Gly193Arg		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G193R	ENST00000264463.4	37	c.577	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.262038	0.95368	.	.	ENSG00000040731	ENST00000264463	T	0.56275	0.47	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80783	0.4689	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83803	0.0237	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	193	Q9Y6N8	CAD10_HUMAN	R	193	ENSP00000264463:G193R	ENSP00000264463:G193R	G	-	1	0	CDH10	24571638	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGG	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.468	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	137	0.00	0	C	NM_006727		24535881	24535881	-1	no_errors	ENST00000264463	ensembl	human	known	69_37n	missense	125	10.07	14	SNP	1.000	T
CDH3	1001	genome.wustl.edu	37	16	68716273	68716273	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:68716273C>T	ENST00000264012.4	+	9	1609	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	CDH3_ENST00000581171.1_Silent_p.D300D|CDH3_ENST00000429102.2_Silent_p.D355D	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	355	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CTGATCTGGACGCCCCCAACT	0.592																																						dbGAP											2	Unknown(2)	breast(2)											102.0	73.0	83.0					16																	68716273		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1065C>T	16.37:g.68716273C>T			B2R6F4|Q05DI6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D355	ENST00000264012.4	37	c.1065	CCDS10868.1	16																																																																																			CDH3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000062038		0.592	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH3	HGNC	protein_coding	OTTHUMT00000268896.2	47	0.00	0	C	NM_001793		68716273	68716273	+1	no_errors	ENST00000264012	ensembl	human	known	69_37n	silent	41	29.31	17	SNP	0.019	T
CDH4	1002	genome.wustl.edu	37	20	60498601	60498601	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:60498601G>A	ENST00000360469.5	+	10	1555	c.1467G>A	c.(1465-1467)caG>caA	p.Q489Q	CDH4_ENST00000543233.1_Silent_p.Q415Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	489	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGTCCTTCCAGTCCACGGCAG	0.602																																						dbGAP											0													85.0	74.0	78.0					20																	60498601		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1467G>A	20.37:g.60498601G>A			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.Q489	ENST00000360469.5	37	c.1467	CCDS13488.1	20																																																																																			CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179242		0.602	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	47	0.00	0	G	NM_001794		60498601	60498601	+1	no_errors	ENST00000360469	ensembl	human	known	69_37n	silent	44	21.43	12	SNP	1.000	A
CDK5RAP2	55755	genome.wustl.edu	37	9	123334252	123334252	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:123334252G>A	ENST00000349780.4	-	2	306	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	CDK5RAP2_ENST00000360190.4_Splice_Site_p.L43L|CDK5RAP2_ENST00000360822.3_Splice_Site_p.L43L|CDK5RAP2_ENST00000359309.3_Splice_Site_p.L43L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	43				L -> V (in Ref. 3; AAP41926). {ECO:0000305}.	brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GTGTACTTACGACCATTTCCC	0.478																																						dbGAP											0													161.0	143.0	149.0					9																	123334252		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.127+1C>T	9.37:g.123334252G>A			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	pfam_Spindle_assoc	p.L43	ENST00000349780.4	37	c.127	CCDS6823.1	9																																																																																			CDK5RAP2	-	NULL	ENSG00000136861		0.478	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	162	0.00	0	G	NM_018249	Silent	123334252	123334252	-1	no_errors	ENST00000349780	ensembl	human	known	69_37n	silent	86	23.89	27	SNP	0.848	A
CEACAM1	634	genome.wustl.edu	37	19	43023125	43023125	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:43023125G>A	ENST00000161559.6	-	5	1355	c.1221C>T	c.(1219-1221)agC>agT	p.S407S	CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000599389.1_Intron|CEACAM1_ENST00000403444.3_Silent_p.S407S|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000308072.4_Intron|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000351134.3_Intron	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	407	Ig-like C2-type 3.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGATGGGGTCGCTTTGGTTCT	0.483																																						dbGAP											0													217.0	208.0	211.0					19																	43023125		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.1221C>T	19.37:g.43023125G>A			A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S407	ENST00000161559.6	37	c.1221	CCDS12609.1	19																																																																																			CEACAM1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000079385		0.483	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM1	HGNC	protein_coding	OTTHUMT00000321190.2	207	0.00	0	G	NM_001712		43023125	43023125	-1	no_errors	ENST00000161559	ensembl	human	known	69_37n	silent	183	18.30	41	SNP	0.004	A
CEACAM18	729767	genome.wustl.edu	37	19	51984902	51984903	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:51984902_51984903delTC	ENST00000396477.4	+	3	677_678	c.656_657delTC	c.(655-657)atcfs	p.I219fs	CEACAM18_ENST00000451626.1_Frame_Shift_Del_p.I280fs	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	219										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGTGAACGCATCTCTCTGACTG	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.656_657delTC	19.37:g.51984906_51984907delTC	ENSP00000379738:p.Ile219fs		C9JN24	Frame_Shift_Del	DEL	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L282fs	ENST00000396477.4	37	c.839_840		19																																																																																			CEACAM18	-	smart_Ig_sub	ENSG00000213822		0.535	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	110	0.00	0	TC			51984902	51984903	+1	no_errors	ENST00000451626	ensembl	human	known	69_37n	frame_shift_del	138	11.54	18	DEL	0.001:0.000	-
CECR2	27443	genome.wustl.edu	37	22	18016903	18016903	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:18016903delA	ENST00000400585.2	+	10	1169	c.731delA	c.(730-732)gaafs	p.E244fs	CECR2_ENST00000262608.8_Frame_Shift_Del_p.E386fs|CECR2_ENST00000342247.5_Frame_Shift_Del_p.E357fs|CECR2_ENST00000400573.5_Frame_Shift_Del_p.E385fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	427					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		ATGAGAGAGGAAAAAAAGACT	0.478																																						dbGAP											0													94.0	96.0	96.0					22																	18016903		1886	4100	5986	-	-	-	SO:0001589	frameshift_variant	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.731delA	22.37:g.18016903delA	ENSP00000383428:p.Glu244fs		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Del	DEL	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K387fs	ENST00000400585.2	37	c.1154		22																																																																																			CECR2	-	superfamily_Bromodomain	ENSG00000099954		0.478	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	77	0.00	0	A	NM_031413		18016903	18016903	+1	no_errors	ENST00000400573	ensembl	human	novel	69_37n	frame_shift_del	29	32.56	14	DEL	0.749	-
CELSR2	1952	genome.wustl.edu	37	1	109794904	109794904	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:109794904A>G	ENST00000271332.3	+	1	2264	c.2203A>G	c.(2203-2205)Agc>Ggc	p.S735G		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	735	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGTGCTGATCAGCGCCACGGA	0.587																																					NSCLC(158;1285 2011 34800 34852 42084)	dbGAP											0													56.0	50.0	52.0					1																	109794904		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2203A>G	1.37:g.109794904A>G	ENSP00000271332:p.Ser735Gly		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.S735G	ENST00000271332.3	37	c.2203	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	N	18.14	3.558577	0.65538	.	.	ENSG00000143126	ENST00000271332	T	0.52057	0.68	4.81	4.81	0.61882	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60170	0.2248	M	0.78049	2.395	0.53688	D	0.999979	D	0.67145	0.996	D	0.68039	0.955	T	0.64757	-0.6332	9	0.51188	T	0.08	.	14.5794	0.68274	1.0:0.0:0.0:0.0	.	735	Q9HCU4	CELR2_HUMAN	G	735	ENSP00000271332:S735G	ENSP00000271332:S735G	S	+	1	0	CELSR2	109596427	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.087000	0.94110	2.047000	0.60756	0.454000	0.30748	AGC	CELSR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000143126		0.587	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	32	0.00	0	A	NM_001408		109794904	109794904	+1	no_errors	ENST00000271332	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	1.000	G
CELSR3	1951	genome.wustl.edu	37	3	48696383	48696383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:48696383G>A	ENST00000164024.4	-	1	3965	c.3685C>T	c.(3685-3687)Cga>Tga	p.R1229*	CELSR3_ENST00000544264.1_Nonsense_Mutation_p.R1229*	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1229	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGCTGAGTCGCAGCTCCCCA	0.592																																						dbGAP											0													60.0	48.0	52.0					3																	48696383		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3685C>T	3.37:g.48696383G>A	ENSP00000164024:p.Arg1229*		O75092	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R1229*	ENST00000164024.4	37	c.3685	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.530371	0.99196	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	.	.	.	5.2	2.23	0.28157	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9721	0.64247	0.0:0.0:0.4861:0.5139	.	.	.	.	X	1229	.	ENSP00000164024:R1229X	R	-	1	2	CELSR3	48671387	1.000000	0.71417	0.992000	0.48379	0.913000	0.54294	2.703000	0.47110	0.586000	0.29626	-1.431000	0.01090	CGA	CELSR3	-	superfamily_Cadherin-like,smart_Cadherin	ENSG00000008300		0.592	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	76	0.00	0	G	NM_001407		48696383	48696383	-1	no_errors	ENST00000544264	ensembl	human	known	69_37n	nonsense	62	20.51	16	SNP	0.984	A
CEP152	22995	genome.wustl.edu	37	15	49076204	49076206	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:49076204_49076206delCTC	ENST00000380950.2	-	10	1472_1474	c.1285_1287delGAG	c.(1285-1287)gagdel	p.E429del	CEP152_ENST00000325747.5_In_Frame_Del_p.E336del|RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000399334.3_In_Frame_Del_p.E429del	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	429					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCTTTTGACTCTCCTCTAGACTT	0.433																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1285_1287delGAG	15.37:g.49076207_49076209delCTC	ENSP00000370337:p.Glu429del		E7ER66|Q17RV1|Q6NTA0	In_Frame_Del	DEL	NULL	p.E429in_frame_del	ENST00000380950.2	37	c.1287_1285	CCDS58361.1	15																																																																																			CEP152	-	NULL	ENSG00000103995		0.433	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	96	0.00	0	CTC	NM_014985		49076204	49076206	-1	no_errors	ENST00000380950	ensembl	human	known	69_37n	in_frame_del	110	12.70	16	DEL	1.000:1.000:1.000	-
CEP192	55125	genome.wustl.edu	37	18	13049352	13049352	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr18:13049352T>A	ENST00000325971.8	+	14	2367	c.774T>A	c.(772-774)aaT>aaA	p.N258K	CEP192_ENST00000430049.2_Missense_Mutation_p.N379K|CEP192_ENST00000506447.1_Missense_Mutation_p.N854K			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	258					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGAGTGAGAATCAAGAGTCAT	0.378																																						dbGAP											0													94.0	87.0	89.0					18																	13049352		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.774T>A	18.37:g.13049352T>A	ENSP00000317156:p.Asn258Lys		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.N854K	ENST00000325971.8	37	c.2562		18	.	.	.	.	.	.	.	.	.	.	T	6.475	0.455729	0.12283	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.76448	-1.02;-1.02;-1.02	5.37	-5.79	0.02354	.	0.566717	0.15750	N	0.246459	T	0.55784	0.1942	L	0.44542	1.39	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.003	B;B;B	0.15484	0.013;0.002;0.008	T	0.53012	-0.8498	10	0.06099	T	0.92	-2.4292	4.7825	0.13210	0.0994:0.2275:0.0987:0.5744	.	379;854;258	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	K	854;258;258;379	ENSP00000427550:N854K;ENSP00000317156:N258K;ENSP00000389190:N379K	ENSP00000317156:N258K	N	+	3	2	CEP192	13039352	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.952000	0.03881	-0.662000	0.05338	-1.172000	0.01736	AAT	CEP192	-	NULL	ENSG00000101639		0.378	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		76	0.00	0	T	NM_032142		13049352	13049352	+1	no_errors	ENST00000506447	ensembl	human	known	69_37n	missense	22	64.52	40	SNP	0.000	A
CEP55	55165	genome.wustl.edu	37	10	95276744	95276744	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:95276744delA	ENST00000371485.3	+	6	1036	c.732delA	c.(730-732)gcafs	p.A244fs		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	244					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)		p.D247fs*9(1)		kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				TGGCAAGTGCAAAAAAAGATC	0.338																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											68.0	68.0	68.0					10																	95276744		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.732delA	10.37:g.95276744delA	ENSP00000360540:p.Ala244fs		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Frame_Shift_Del	DEL	pfam_EABR	p.D247fs	ENST00000371485.3	37	c.732	CCDS7428.1	10																																																																																			CEP55	-	NULL	ENSG00000138180		0.338	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP55	HGNC	protein_coding	OTTHUMT00000049434.1	75	0.00	0	A	NM_018131		95276744	95276744	+1	no_errors	ENST00000371485	ensembl	human	known	69_37n	frame_shift_del	46	26.98	17	DEL	0.967	-
CEP95	90799	genome.wustl.edu	37	17	62532782	62532782	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:62532782A>C	ENST00000556440.2	+	18	2643	c.2133A>C	c.(2131-2133)agA>agC	p.R711S	CEP95_ENST00000553412.1_Missense_Mutation_p.R547S	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	711						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GAGACCTAAGAAACTATGCCA	0.393																																						dbGAP											0													82.0	84.0	84.0					17																	62532782		1929	4128	6057	-	-	-	SO:0001583	missense	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2133A>C	17.37:g.62532782A>C	ENSP00000450461:p.Arg711Ser		B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.R711S	ENST00000556440.2	37	c.2133	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	A	19.96	3.923708	0.73213	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.46063	0.97;0.88	5.48	5.48	0.80851	.	0.050615	0.85682	D	0.000000	T	0.62938	0.2469	M	0.76002	2.32	0.43569	D	0.995892	D	0.89917	1.0	D	0.76575	0.988	T	0.67063	-0.5765	10	0.87932	D	0	-21.3151	11.8183	0.52224	0.8537:0.1463:0.0:0.0	.	711	Q96GE4	CEP95_HUMAN	S	646;711;547	ENSP00000450461:R711S;ENSP00000450906:R547S	ENSP00000438458:R646S	R	+	3	2	CEP95	59963244	0.911000	0.30947	1.000000	0.80357	0.877000	0.50540	1.629000	0.37071	2.204000	0.70986	0.528000	0.53228	AGA	CEP95	-	NULL	ENSG00000258890		0.393	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	65	0.00	0	A	NM_138363		62532782	62532782	+1	no_errors	ENST00000556440	ensembl	human	known	69_37n	missense	89	15.89	17	SNP	1.000	C
CES5A	221223	genome.wustl.edu	37	16	55899995	55899995	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:55899995G>A	ENST00000290567.9	-	5	706	c.585C>T	c.(583-585)gcC>gcT	p.A195A	CES5A_ENST00000518005.1_Silent_p.A89A|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000319165.9_Silent_p.A195A|CES5A_ENST00000520435.1_Silent_p.A165A|CES5A_ENST00000521992.1_Silent_p.A224A	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	195						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGTCCTTGAAGGCCCAGTTCC	0.587																																						dbGAP											0													39.0	37.0	38.0					16																	55899995		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.585C>T	16.37:g.55899995G>A			B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.A224	ENST00000290567.9	37	c.672	CCDS45490.1	16																																																																																			CES5A	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000159398		0.587	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	34	0.00	0	G	NM_145024		55899995	55899995	-1	no_errors	ENST00000521992	ensembl	human	known	69_37n	silent	63	17.11	13	SNP	0.259	A
CHI3L2	1117	genome.wustl.edu	37	1	111784919	111784919	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:111784919G>A	ENST00000445067.2	+	12	1877	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000369744.2_Missense_Mutation_p.G359D|CHI3L2_ENST00000466741.1_Missense_Mutation_p.G290D|CHI3L2_ENST00000369748.4_Missense_Mutation_p.G369D|CHI3L2_ENST00000524472.1_Missense_Mutation_p.G290D			Q15782	CH3L2_HUMAN	chitinase 3-like 2	369					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GACTTCACTGGCAAATCCTGC	0.507																																						dbGAP											0													134.0	128.0	130.0					1																	111784919		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.1106G>A	1.37:g.111784919G>A	ENSP00000437082:p.Gly369Asp		A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.G369D	ENST00000445067.2	37	c.1106	CCDS30802.1	1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617000	0.66672	.	.	ENSG00000064886	ENST00000445067;ENST00000369744;ENST00000369748;ENST00000466741;ENST00000524472;ENST00000497220	T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39	3.55	3.55	0.40652	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.37577	N	0.002026	T	0.16557	0.0398	M	0.79693	2.465	0.37256	D	0.906789	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.01520	-1.1334	10	0.87932	D	0	-5.5002	12.6681	0.56853	0.0:0.0:1.0:0.0	.	290;359;369	B4DPR7;A6NNY3;Q15782	.;.;CH3L2_HUMAN	D	369;359;369;290;290;162	ENSP00000437082:G369D;ENSP00000358759:G359D;ENSP00000358763:G369D;ENSP00000437086:G290D;ENSP00000432049:G290D;ENSP00000435250:G162D	ENSP00000358759:G359D	G	+	2	0	CHI3L2	111586442	1.000000	0.71417	0.392000	0.26245	0.870000	0.49936	3.324000	0.52022	1.783000	0.52377	0.563000	0.77884	GGC	CHI3L2	-	superfamily_Glycoside_hydrolase_SF	ENSG00000064886		0.507	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L2	HGNC	protein_coding	OTTHUMT00000033669.4	86	0.00	0	G	NM_004000		111784919	111784919	+1	no_errors	ENST00000369748	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	0.800	A
CHM	1121	genome.wustl.edu	37	X	85211231	85211231	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:85211231G>T	ENST00000357749.2	-	8	1122	c.1093C>A	c.(1093-1095)Ctt>Att	p.L365I	CHM_ENST00000537751.1_Missense_Mutation_p.L217I|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	365					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TACCGCCCAAGACAGTGAAGA	0.433																																						dbGAP											0													116.0	88.0	98.0					X																	85211231		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1093C>A	X.37:g.85211231G>T	ENSP00000350386:p.Leu365Ile		A1L4D2|O43732	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.L365I	ENST00000357749.2	37	c.1093	CCDS14454.1	X	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076673	0.76415	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.87179	-2.22;-2.22	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.92701	0.7680	M	0.72353	2.195	0.58432	D	0.999996	D	0.76494	0.999	D	0.97110	1.0	D	0.93219	0.6607	10	0.54805	T	0.06	-3.8842	16.5945	0.84792	0.0:0.0:1.0:0.0	.	365	P24386	RAE1_HUMAN	I	365;217	ENSP00000350386:L365I;ENSP00000441728:L217I	ENSP00000350386:L365I	L	-	1	0	CHM	85097887	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.713000	0.74686	2.088000	0.63022	0.513000	0.50165	CTT	CHM	-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	ENSG00000188419		0.433	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	102	0.00	0	G	NM_000390		85211231	85211231	-1	no_errors	ENST00000357749	ensembl	human	known	69_37n	missense	116	18.31	26	SNP	1.000	T
CHORDC1	26973	genome.wustl.edu	37	11	89944425	89944425	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:89944425C>T	ENST00000320585.6	-	5	800	c.391G>A	c.(391-393)Gat>Aat	p.D131N	CHORDC1_ENST00000529987.1_5'Flank|CHORDC1_ENST00000457199.2_Missense_Mutation_p.D112N|CHORDC1_ENST00000529726.1_5'Flank	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	131	Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTAAGTTTATCAAGTGCTTGT	0.294																																						dbGAP											0													110.0	118.0	116.0					11																	89944425		2201	4289	6490	-	-	-	SO:0001583	missense	0			AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.391G>A	11.37:g.89944425C>T	ENSP00000319255:p.Asp131Asn		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.D131N	ENST00000320585.6	37	c.391	CCDS8289.1	11	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069619	0.76301	.	.	ENSG00000110172	ENST00000320585;ENST00000457199	T;T	0.43294	0.95;0.95	5.77	5.77	0.91146	.	0.153772	0.56097	D	0.000023	T	0.50786	0.1636	M	0.73962	2.25	0.80722	D	1	P;B	0.39940	0.696;0.417	B;B	0.40982	0.345;0.187	T	0.49762	-0.8905	9	.	.	.	-0.2475	20.0519	0.97629	0.0:1.0:0.0:0.0	.	112;131	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	N	131;112	ENSP00000319255:D131N;ENSP00000401080:D112N	.	D	-	1	0	CHORDC1	89584073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.332000	0.72934	2.746000	0.94184	0.580000	0.79431	GAT	CHORDC1	-	NULL	ENSG00000110172		0.294	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHORDC1	HGNC	protein_coding	OTTHUMT00000394111.1	268	0.00	0	C	NM_012124		89944425	89944425	-1	no_errors	ENST00000320585	ensembl	human	known	69_37n	missense	258	23.60	80	SNP	1.000	T
CHRNA4	1137	genome.wustl.edu	37	20	61981463	61981463	+	Missense_Mutation	SNP	G	G	A	rs545104411		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:61981463G>A	ENST00000370263.4	-	5	1521	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	434					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCTTCCAGGGGCTGCTGAGGA	0.706																																						dbGAP											0													15.0	13.0	14.0					20																	61981463		2155	4231	6386	-	-	-	SO:0001583	missense	0				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1300C>T	20.37:g.61981463G>A	ENSP00000359285:p.Pro434Ser		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P434S	ENST00000370263.4	37	c.1300	CCDS13517.1	20	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.503602	0.00992	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.76316	-1.01	4.81	3.83	0.44106	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.640130	0.01016	N	0.003903	T	0.72228	0.3434	L	0.50333	1.59	0.09310	N	1	P;B	0.34864	0.473;0.213	B;B	0.34931	0.192;0.138	T	0.56177	-0.8022	10	0.02654	T	1	.	9.6919	0.40134	0.0:0.1484:0.6872:0.1645	.	363;434	Q4VAQ5;P43681	.;ACHA4_HUMAN	S	340;434;363	ENSP00000359285:P434S	ENSP00000359280:P340S	P	-	1	0	CHRNA4	61451907	0.954000	0.32549	0.025000	0.17156	0.068000	0.16541	4.727000	0.61993	0.953000	0.37825	0.561000	0.74099	CCC	CHRNA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000101204		0.706	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	HGNC	protein_coding	OTTHUMT00000080508.3	10	0.00	0	G			61981463	61981463	-1	no_errors	ENST00000370263	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	0.002	A
CHRNA4	1137	genome.wustl.edu	37	20	61981948	61981948	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:61981948C>T	ENST00000370263.4	-	5	1036	c.815G>A	c.(814-816)gGc>gAc	p.G272D	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	272					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GATCTTCTCGCCACACTCGGA	0.602																																						dbGAP											0													256.0	191.0	213.0					20																	61981948		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.815G>A	20.37:g.61981948C>T	ENSP00000359285:p.Gly272Asp		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G272D	ENST00000370263.4	37	c.815	CCDS13517.1	20	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334443	0.81801	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.89875	-2.58	5.06	5.06	0.68205	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.048772	0.85682	D	0.000000	D	0.95111	0.8416	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.988	D	0.95818	0.8847	10	0.87932	D	0	.	18.4025	0.90522	0.0:1.0:0.0:0.0	.	201;272	Q4VAQ5;P43681	.;ACHA4_HUMAN	D	178;272;201	ENSP00000359285:G272D	ENSP00000359280:G178D	G	-	2	0	CHRNA4	61452392	1.000000	0.71417	0.993000	0.49108	0.838000	0.47535	7.577000	0.82486	2.333000	0.79357	0.655000	0.94253	GGC	CHRNA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000101204		0.602	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	HGNC	protein_coding	OTTHUMT00000080508.3	308	0.00	0	C			61981948	61981948	-1	no_errors	ENST00000370263	ensembl	human	known	69_37n	missense	268	19.76	66	SNP	1.000	T
CLCA2	9635	genome.wustl.edu	37	1	86894111	86894111	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:86894111T>C	ENST00000370565.4	+	3	497	c.335T>C	c.(334-336)aTa>aCa	p.I112T		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	112	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GCAAATGTCATAGTGACTGAC	0.373																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	dbGAP											0													121.0	108.0	112.0					1																	86894111		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.335T>C	1.37:g.86894111T>C	ENSP00000359596:p.Ile112Thr		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.I112T	ENST00000370565.4	37	c.335	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021064	0.75275	.	.	ENSG00000137975	ENST00000370565;ENST00000439777	T	0.13089	2.62	5.59	5.59	0.84812	Chloride channel calcium-activated (1);	0.317552	0.31949	N	0.006805	T	0.15522	0.0374	L	0.56769	1.78	0.42504	D	0.992947	P	0.43938	0.822	P	0.50270	0.636	T	0.00920	-1.1514	10	0.36615	T	0.2	-6.7142	15.7197	0.77697	0.0:0.0:0.0:1.0	.	112	Q9UQC9	CLCA2_HUMAN	T	112	ENSP00000359596:I112T	ENSP00000359596:I112T	I	+	2	0	CLCA2	86666699	0.995000	0.38212	0.998000	0.56505	0.947000	0.59692	4.061000	0.57485	2.231000	0.72958	0.533000	0.62120	ATA	CLCA2	-	pfam_Cl_channel_Ca,tigrfam_CaCC_prot	ENSG00000137975		0.373	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	85	0.00	0	T	NM_006536		86894111	86894111	+1	no_errors	ENST00000370565	ensembl	human	known	69_37n	missense	84	16.00	16	SNP	0.994	C
CHRNB2	1141	genome.wustl.edu	37	1	154548259	154548259	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:154548259G>A	ENST00000368476.3	+	6	1624	c.1360G>A	c.(1360-1362)Gtc>Atc	p.V454I		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	454					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CTGGAAGTACGTCGCCATGGT	0.552																																						dbGAP											0													288.0	207.0	234.0					1																	154548259		2203	4300	6503	-	-	-	SO:0001583	missense	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.1360G>A	1.37:g.154548259G>A	ENSP00000357461:p.Val454Ile		Q9UEH9	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V454I	ENST00000368476.3	37	c.1360	CCDS1070.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.369686	0.95900	.	.	ENSG00000160716	ENST00000368476	D	0.86694	-2.16	5.18	5.18	0.71444	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000001	D	0.92599	0.7649	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92711	0.6183	10	0.66056	D	0.02	.	18.4919	0.90851	0.0:0.0:1.0:0.0	.	454	P17787	ACHB2_HUMAN	I	454	ENSP00000357461:V454I	ENSP00000357461:V454I	V	+	1	0	CHRNB2	152814883	1.000000	0.71417	0.923000	0.36655	0.972000	0.66771	9.657000	0.98554	2.701000	0.92244	0.563000	0.77884	GTC	CHRNB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000160716		0.552	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	171	0.00	0	G	NM_000748		154548259	154548259	+1	no_errors	ENST00000368476	ensembl	human	known	69_37n	missense	206	13.39	32	SNP	1.000	A
CLMN	79789	genome.wustl.edu	37	14	95677094	95677094	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:95677094C>T	ENST00000298912.4	-	7	844	c.731G>A	c.(730-732)cGa>cAa	p.R244Q		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	244	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TAGATTTTCTCGTGTGGAATT	0.542																																						dbGAP											0													156.0	152.0	153.0					14																	95677094		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.731G>A	14.37:g.95677094C>T	ENSP00000298912:p.Arg244Gln		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R244Q	ENST00000298912.4	37	c.731	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738467	0.89573	.	.	ENSG00000165959	ENST00000298912	D	0.94931	-3.56	6.03	6.03	0.97812	Calponin homology domain (5);	0.000000	0.34777	N	0.003693	D	0.96321	0.8800	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.96162	0.9116	10	0.66056	D	0.02	.	16.0955	0.81117	0.1344:0.8656:0.0:0.0	.	244	Q96JQ2	CLMN_HUMAN	Q	244	ENSP00000298912:R244Q	ENSP00000298912:R244Q	R	-	2	0	CLMN	94746847	0.935000	0.31712	0.986000	0.45419	0.846000	0.48090	3.029000	0.49712	2.854000	0.98071	0.655000	0.94253	CGA	CLMN	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000165959		0.542	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2	173	0.00	0	C			95677094	95677094	-1	no_errors	ENST00000298912	ensembl	human	known	69_37n	missense	143	37.23	86	SNP	1.000	T
CLSPN	63967	genome.wustl.edu	37	1	36229911	36229911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:36229911delT	ENST00000318121.3	-	3	595	c.538delA	c.(538-540)atgfs	p.M180fs	CLSPN_ENST00000251195.5_Frame_Shift_Del_p.M180fs|CLSPN_ENST00000520551.1_Frame_Shift_Del_p.M180fs|CLSPN_ENST00000373220.3_Frame_Shift_Del_p.M180fs	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	180					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATTTTTTCCATTTTTCTCTCC	0.313																																						dbGAP											0													76.0	71.0	73.0					1																	36229911		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.538delA	1.37:g.36229911delT	ENSP00000312995:p.Met180fs		A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Frame_Shift_Del	DEL	NULL	p.M180fs	ENST00000318121.3	37	c.538	CCDS396.1	1																																																																																			CLSPN	-	NULL	ENSG00000092853		0.313	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1	298	0.00	0	T	NM_022111		36229911	36229911	-1	no_errors	ENST00000318121	ensembl	human	known	69_37n	frame_shift_del	222	17.03	47	DEL	1.000	-
CNOT1	23019	genome.wustl.edu	37	16	58577341	58577341	+	Intron	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:58577341A>G	ENST00000317147.5	-	31	4767				CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.I1535T|CNOT1_ENST00000569240.1_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		cacagacatgatgctttgcct	0.303																																						dbGAP											0													35.0	35.0	35.0					16																	58577341		1097	2174	3271	-	-	-	SO:0001627	intron_variant	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+169T>C	16.37:g.58577341A>G			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I1535T	ENST00000317147.5	37	c.4604	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	A	10.04	1.242221	0.22796	.	.	ENSG00000125107	ENST00000441024	T	0.48522	0.81	4.24	-1.15	0.09709	.	.	.	.	.	T	0.28433	0.0703	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31998	-0.9923	8	0.87932	D	0	.	0.4338	0.00475	0.4242:0.1847:0.2119:0.1791	.	1535	A5YKK6-4	.	T	1535	ENSP00000413113:I1535T	ENSP00000413113:I1535T	I	-	2	0	CNOT1	57134842	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.998000	0.29744	-0.018000	0.14079	-0.361000	0.07541	ATC	CNOT1	-	NULL	ENSG00000125107		0.303	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	43	0.00	0	A	NM_016284		58577341	58577341	-1	no_errors	ENST00000441024	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.000	G
CNOT1	23019	genome.wustl.edu	37	16	58589155	58589155	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:58589155C>T	ENST00000317147.5	-	21	3223	c.2891G>A	c.(2890-2892)aGa>aAa	p.R964K	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Splice_Site_p.R964K|CNOT1_ENST00000569240.1_Splice_Site_p.R959K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	964	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCCACTTACCTGTTTTTAAA	0.473																																						dbGAP											0													73.0	73.0	73.0					16																	58589155		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2891+1G>A	16.37:g.58589155C>T			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.R964K	ENST00000317147.5	37	c.2891	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158668	0.78226	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.58358	0.46;0.34	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	L	0.46947	1.48	0.80722	D	1	P;P;P	0.47910	0.902;0.816;0.867	D;B;P	0.63033	0.91;0.152;0.664	T	0.59695	-0.7406	9	.	.	.	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	964;964;959	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	K	964;393;959;964	ENSP00000320949:R964K;ENSP00000413113:R964K	.	R	-	2	0	CNOT1	57146656	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	AGA	CNOT1	-	NULL	ENSG00000125107		0.473	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	42	0.00	0	C	NM_016284	Missense_Mutation	58589155	58589155	-1	no_errors	ENST00000317147	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	1.000	T
CNOT6	57472	genome.wustl.edu	37	5	179996273	179996273	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:179996273T>C	ENST00000393356.1	+	12	1615	c.1191T>C	c.(1189-1191)agT>agC	p.S397S	CNOT6_ENST00000261951.4_Silent_p.S397S			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	397	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TCAAATCCAGTGTTTTGGGAG	0.368																																						dbGAP											0													138.0	137.0	137.0					5																	179996273		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1191T>C	5.37:g.179996273T>C			A7MD46|D3DWR0	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.S397	ENST00000393356.1	37	c.1191	CCDS4455.1	5																																																																																			CNOT6	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000113300		0.368	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	HGNC	protein_coding	OTTHUMT00000253532.1	112	0.00	0	T	NM_015455		179996273	179996273	+1	no_errors	ENST00000261951	ensembl	human	known	69_37n	silent	54	20.59	14	SNP	0.075	C
CNOT6	57472	genome.wustl.edu	37	5	180001174	180001174	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:180001174G>A	ENST00000393356.1	+	14	2072	c.1648G>A	c.(1648-1650)Ggc>Agc	p.G550S	CNOT6_ENST00000261951.4_Missense_Mutation_p.G550S			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	550	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CCAAGTCAACGGCATCCACCT	0.512																																						dbGAP											0													104.0	108.0	107.0					5																	180001174		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1648G>A	5.37:g.180001174G>A	ENSP00000377024:p.Gly550Ser		A7MD46|D3DWR0	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.G550S	ENST00000393356.1	37	c.1648	CCDS4455.1	5	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906156	0.72868	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.32753	1.44;1.44	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.56514	0.1990	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52268	-0.8598	9	.	.	.	-7.0893	19.6699	0.95907	0.0:0.0:1.0:0.0	.	550	Q9ULM6	CNOT6_HUMAN	S	550	ENSP00000261951:G550S;ENSP00000377024:G550S	.	G	+	1	0	CNOT6	179933780	1.000000	0.71417	0.966000	0.40874	0.807000	0.45602	9.334000	0.96470	2.639000	0.89480	0.585000	0.79938	GGC	CNOT6	-	NULL	ENSG00000113300		0.512	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	HGNC	protein_coding	OTTHUMT00000253532.1	158	0.00	0	G	NM_015455		180001174	180001174	+1	no_errors	ENST00000261951	ensembl	human	known	69_37n	missense	88	28.46	35	SNP	1.000	A
CNTNAP5	129684	genome.wustl.edu	37	2	125192222	125192222	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:125192222T>G	ENST00000431078.1	+	5	1055	c.691T>G	c.(691-693)Ttg>Gtg	p.L231V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	231	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCACATCACCTTGGAACTCCA	0.527																																						dbGAP											0													65.0	67.0	66.0					2																	125192222		2074	4213	6287	-	-	-	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.691T>G	2.37:g.125192222T>G	ENSP00000399013:p.Leu231Val		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.L231V	ENST00000431078.1	37	c.691	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	T	18.13	3.554995	0.65425	.	.	ENSG00000155052	ENST00000431078	D	0.85258	-1.96	5.48	1.33	0.21861	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.37304	N	0.002158	D	0.89255	0.6663	M	0.65498	2.005	0.47994	D	0.999568	D	0.76494	0.999	D	0.87578	0.998	D	0.86746	0.1957	10	0.56958	D	0.05	.	8.8887	0.35420	0.0:0.4776:0.0:0.5224	.	231	Q8WYK1	CNTP5_HUMAN	V	231	ENSP00000399013:L231V	ENSP00000399013:L231V	L	+	1	2	CNTNAP5	124908692	0.149000	0.22717	0.994000	0.49952	0.964000	0.63967	0.729000	0.26028	0.183000	0.20059	-0.408000	0.06270	TTG	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	75	0.00	0	T			125192222	125192222	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	missense	80	20.79	21	SNP	0.997	G
COL18A1	80781	genome.wustl.edu	37	21	46907403	46907403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr21:46907403C>T	ENST00000359759.4	+	16	3142	c.3121C>T	c.(3121-3123)Cga>Tga	p.R1041*	COL18A1_ENST00000355480.5_Nonsense_Mutation_p.R806*|COL18A1_ENST00000400337.2_Nonsense_Mutation_p.R626*			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1041	Nonhelical region 4 (NC4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)	p.R806*(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GTCAACAGCCCGAAGCGCTGA	0.632																																						dbGAP											2	Substitution - Nonsense(2)	large_intestine(1)|endometrium(1)											51.0	57.0	55.0					21																	46907403		1993	4161	6154	-	-	-	SO:0001587	stop_gained	0				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3121C>T	21.37:g.46907403C>T	ENSP00000352798:p.Arg1041*		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Nonsense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.R1041*	ENST00000359759.4	37	c.3121		21	.	.	.	.	.	.	.	.	.	.	C	38	7.281946	0.98186	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	.	.	.	3.77	3.77	0.43336	.	1.295700	0.06336	U	0.707065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	11.3059	0.49334	0.0:1.0:0.0:0.0	.	.	.	.	X	626;626;806;1041;1041	.	ENSP00000347665:R806X	R	+	1	2	COL18A1	45731831	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.411000	0.21115	2.136000	0.66102	0.561000	0.74099	CGA	COL18A1	-	NULL	ENSG00000182871		0.632	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	28	0.00	0	C			46907403	46907403	+1	no_errors	ENST00000359759	ensembl	human	known	69_37n	nonsense	35	26.53	13	SNP	0.004	T
COL19A1	1310	genome.wustl.edu	37	6	70859922	70859922	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:70859922delC	ENST00000322773.4	+	30	2124	c.2022delC	c.(2020-2022)ggcfs	p.G674fs	COL19A1_ENST00000393344.1_Frame_Shift_Del_p.G296fs	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	674	Collagen-like 6.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCCTGCCAGGCCCCCCAGGTG	0.493																																						dbGAP											0													87.0	100.0	96.0					6																	70859922		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2022delC	6.37:g.70859922delC	ENSP00000316030:p.Gly674fs		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Frame_Shift_Del	DEL	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.P676fs	ENST00000322773.4	37	c.2022	CCDS4970.1	6																																																																																			COL19A1	-	pfam_Collagen	ENSG00000082293		0.493	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	59	0.00	0	C			70859922	70859922	+1	no_errors	ENST00000322773	ensembl	human	known	69_37n	frame_shift_del	122	15.75	23	DEL	1.000	-
COL21A1	81578	genome.wustl.edu	37	6	55925688	55925688	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:55925688C>T	ENST00000244728.5	-	26	2750		c.e26+1		COL21A1_ENST00000370819.1_Splice_Site|COL21A1_ENST00000370808.2_Splice_Site|COL21A1_ENST00000467045.1_Splice_Site|COL21A1_ENST00000535941.1_Splice_Site	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGAATACATACGGGCTTCCCA	0.488																																						dbGAP											0													44.0	43.0	44.0					6																	55925688		1833	4080	5913	-	-	-	SO:0001630	splice_region_variant	0			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2352+1G>A	6.37:g.55925688C>T			A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Splice_Site	SNP	-	e25+1	ENST00000244728.5	37	c.2352+1	CCDS55025.1	6	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471870	0.63737	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4476	0.90690	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL21A1	56033647	1.000000	0.71417	0.929000	0.37066	0.840000	0.47671	5.785000	0.68998	2.431000	0.82371	0.655000	0.94253	.	COL21A1	-	-	ENSG00000124749		0.488	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2	56	0.00	0	C		Intron	55925688	55925688	-1	no_errors	ENST00000244728	ensembl	human	known	69_37n	splice_site	64	15.79	12	SNP	0.998	T
COL4A4	1286	genome.wustl.edu	37	2	227974003	227974003	+	Splice_Site	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:227974003C>A	ENST00000396625.3	-	10	802		c.e10-1		COL4A4_ENST00000329662.7_Splice_Site	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCAAGATCCCTAAACATGAG	0.448																																						dbGAP											0													98.0	99.0	99.0					2																	227974003		1899	4114	6013	-	-	-	SO:0001630	splice_region_variant	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.595-1G>T	2.37:g.227974003C>A			A8MTZ1|Q53RW9|Q53S42|Q53WR1	Splice_Site	SNP	-	e9-1	ENST00000396625.3	37	c.595-1	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996814	0.74818	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4318	0.75105	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A4	227682247	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	2.296000	0.43584	2.779000	0.95612	0.650000	0.86243	.	COL4A4	-	-	ENSG00000081052		0.448	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	49	0.00	0	C	NM_000092	Intron	227974003	227974003	-1	no_errors	ENST00000396625	ensembl	human	known	69_37n	splice_site	34	15.00	6	SNP	1.000	A
COL4A5	1287	genome.wustl.edu	37	X	107865045	107865045	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:107865045delA	ENST00000361603.2	+	32	2934	c.2690delA	c.(2689-2691)gaafs	p.E897fs	COL4A5_ENST00000328300.6_Frame_Shift_Del_p.E897fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	897	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACCAAAGGTGAAATGGGTATG	0.408									Alport syndrome with Diffuse Leiomyomatosis																													dbGAP											0													77.0	66.0	70.0					X																	107865045		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.2690delA	X.37:g.107865045delA	ENSP00000354505:p.Glu897fs		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.M898fs	ENST00000361603.2	37	c.2690	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen	ENSG00000188153		0.408	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	85	0.00	0	A			107865045	107865045	+1	no_errors	ENST00000328300	ensembl	human	known	69_37n	frame_shift_del	55	15.15	10	DEL	1.000	-
COL8A1	1295	genome.wustl.edu	37	3	99514813	99514813	+	Missense_Mutation	SNP	G	G	A	rs375350800		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:99514813G>A	ENST00000261037.3	+	5	2448	c.2068G>A	c.(2068-2070)Gac>Aac	p.D690N	COL8A1_ENST00000273342.4_Missense_Mutation_p.D690N	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	690	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GTACACGTACGACGAGTACAA	0.572																																						dbGAP											0													70.0	64.0	66.0					3																	99514813		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2068G>A	3.37:g.99514813G>A	ENSP00000261037:p.Asp690Asn		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.D690N	ENST00000261037.3	37	c.2068	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605245	0.46423	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	T;T	0.76448	-1.02;-1.02	6.08	6.08	0.98989	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.90650	3.135	0.58432	D	0.999999	P;P	0.42785	0.79;0.79	B;B	0.33690	0.168;0.168	D	0.85128	0.0973	10	0.62326	D	0.03	.	18.1659	0.89727	0.0:0.0:1.0:0.0	.	691;690	E7EPK9;P27658	.;CO8A1_HUMAN	N	690	ENSP00000261037:D690N;ENSP00000273342:D690N	ENSP00000261037:D690N	D	+	1	0	COL8A1	100997503	1.000000	0.71417	0.909000	0.35828	0.432000	0.31715	8.062000	0.89475	2.894000	0.99253	0.591000	0.81541	GAC	COL8A1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q	ENSG00000144810		0.572	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	26	0.00	0	G	NM_001850		99514813	99514813	+1	no_errors	ENST00000261037	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.997	A
COL6A5	256076	genome.wustl.edu	37	3	130110138	130110138	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:130110138G>C	ENST00000432398.2	+	7	3027	c.2533G>C	c.(2533-2535)Gat>Cat	p.D845H	COL6A5_ENST00000265379.6_Missense_Mutation_p.D845H	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	845	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GAAGAAAGCAGATGTTGGCAG	0.388																																						dbGAP											0													122.0	96.0	104.0					3																	130110138		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2533G>C	3.37:g.130110138G>C	ENSP00000390895:p.Asp845His		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D845H	ENST00000432398.2	37	c.2533		3	.	.	.	.	.	.	.	.	.	.	G	4.940	0.174687	0.09391	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.79749	-1.3;-1.3	5.5	2.77	0.32553	.	.	.	.	.	D	0.84406	0.5465	L	0.58302	1.8	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.70781	-0.4779	9	0.41790	T	0.15	.	4.8492	0.13528	0.2374:0.0:0.6134:0.1493	.	845	A8TX70-2	.	H	845	ENSP00000390895:D845H;ENSP00000265379:D845H	ENSP00000265379:D845H	D	+	1	0	COL6A5	131592828	0.003000	0.15002	0.033000	0.17914	0.038000	0.13279	0.730000	0.26043	0.307000	0.22880	0.655000	0.94253	GAT	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.388	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		80	0.00	0	G	NM_153264		130110138	130110138	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	130	11.56	17	SNP	0.000	C
CORIN	10699	genome.wustl.edu	37	4	47676508	47676508	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:47676508G>C	ENST00000273857.4	-	10	1258	c.1259C>G	c.(1258-1260)tCa>tGa	p.S420*	CORIN_ENST00000505909.1_Nonsense_Mutation_p.S383*|CORIN_ENST00000508498.1_Nonsense_Mutation_p.S281*|CORIN_ENST00000504584.1_Nonsense_Mutation_p.S383*|CORIN_ENST00000502252.1_Nonsense_Mutation_p.S353*	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	420					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTCTTGACATGAAGTCTGAAC	0.438																																						dbGAP											0													183.0	166.0	172.0					4																	47676508		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1259C>G	4.37:g.47676508G>C	ENSP00000273857:p.Ser420*		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Nonsense_Mutation	SNP	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S420*	ENST00000273857.4	37	c.1259	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513404	0.64522	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	.	.	.	4.83	3.11	0.35812	.	0.454767	0.22586	N	0.058160	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	8.0831	0.30756	0.2724:0.0:0.7276:0.0	.	.	.	.	X	420;281;353;383;383	.	ENSP00000273857:S420X	S	-	2	0	CORIN	47371265	0.992000	0.36948	0.918000	0.36340	0.099000	0.18886	2.550000	0.45811	0.760000	0.33108	0.650000	0.86243	TCA	CORIN	-	pirsf_Peptidase_S1A_corin,superfamily_LDrepeatLR_classA_rpt	ENSG00000145244		0.438	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	140	0.00	0	G			47676508	47676508	-1	no_errors	ENST00000273857	ensembl	human	known	69_37n	nonsense	129	15.69	24	SNP	0.234	C
COX7A2L	9167	genome.wustl.edu	37	2	42578406	42578406	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:42578406A>G	ENST00000378669.1	-	4	1127	c.298T>C	c.(298-300)Tac>Cac	p.Y100H	COX7A2L_ENST00000234301.2_Missense_Mutation_p.Y100H|COX7A2L_ENST00000482463.1_5'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	100					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			lung(4)	4						ATCAGGCAGTAGATGGTCCCT	0.512																																						dbGAP											0													88.0	72.0	78.0					2																	42578406		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.298T>C	2.37:g.42578406A>G	ENSP00000367938:p.Tyr100His		Q9P118	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a,pirsf_Cyt_c_oxidase_su7a-rel_mt	p.Y100H	ENST00000378669.1	37	c.298	CCDS1808.1	2	.	.	.	.	.	.	.	.	.	.	A	25.9	4.688199	0.88639	.	.	ENSG00000115944	ENST00000378669;ENST00000234301	T;T	0.58060	0.36;0.36	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.86573	2.825	0.51233	D	0.999912	D	0.89917	1.0	D	0.81914	0.995	T	0.79410	-0.1815	10	0.54805	T	0.06	-6.3432	14.3902	0.66973	1.0:0.0:0.0:0.0	.	100	O14548	COX7R_HUMAN	H	100	ENSP00000367938:Y100H;ENSP00000234301:Y100H	ENSP00000234301:Y100H	Y	-	1	0	COX7A2L	42431910	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.774000	0.91767	2.032000	0.59987	0.533000	0.62120	TAC	COX7A2L	-	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a,pirsf_Cyt_c_oxidase_su7a-rel_mt	ENSG00000115944		0.512	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX7A2L	HGNC	protein_coding	OTTHUMT00000250466.3	115	0.00	0	A	NM_004718		42578406	42578406	-1	no_errors	ENST00000234301	ensembl	human	known	69_37n	missense	105	28.08	41	SNP	1.000	G
CPD	1362	genome.wustl.edu	37	17	28754560	28754560	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:28754560A>G	ENST00000225719.4	+	7	2077	c.2001A>G	c.(1999-2001)tcA>tcG	p.S667S	CPD_ENST00000543464.2_Silent_p.S420S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	667	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TTGTACTTTCAGCAAACCTGC	0.393																																						dbGAP											0													136.0	120.0	126.0					17																	28754560		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2001A>G	17.37:g.28754560A>G			B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.S667	ENST00000225719.4	37	c.2001	CCDS11257.1	17																																																																																			CPD	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000108582		0.393	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	74	0.00	0	A	NM_001304		28754560	28754560	+1	no_errors	ENST00000225719	ensembl	human	known	69_37n	silent	69	17.86	15	SNP	0.998	G
CPSF3L	54973	genome.wustl.edu	37	1	1249259	1249259	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:1249259C>T	ENST00000435064.1	-	9	892	c.810G>A	c.(808-810)ggG>ggA	p.G270G	CPSF3L_ENST00000450926.2_Silent_p.G248G|CPSF3L_ENST00000540437.1_Silent_p.G276G|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000421495.2_Silent_p.G12G|CPSF3L_ENST00000411962.1_Silent_p.G172G|CPSF3L_ENST00000545578.1_Silent_p.G241G|CPSF3L_ENST00000419704.1_Silent_p.G169G	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	270					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TCTCGGTCAGCCCCGTGGAGA	0.582																																						dbGAP											0													149.0	125.0	133.0					1																	1249259		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.810G>A	1.37:g.1249259C>T			A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.A249T	ENST00000435064.1	37	c.745	CCDS21.1	1																																																																																			CPSF3L	-	NULL	ENSG00000127054		0.582	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3L	HGNC	protein_coding	OTTHUMT00000009360.2	100	0.00	0	C	NM_017871		1249259	1249259	-1	no_errors	ENST00000528879	ensembl	human	known	69_37n	missense	58	23.38	18	SNP	0.995	T
CREBBP	1387	genome.wustl.edu	37	16	3781302	3781302	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:3781302G>A	ENST00000262367.5	-	30	5872	c.5063C>T	c.(5062-5064)aCg>aTg	p.T1688M	CREBBP_ENST00000382070.3_Missense_Mutation_p.T1650M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1688	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CATGCAGAGCGTGGACCACTT	0.632			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															dbGAP		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													91.0	64.0	73.0					16																	3781302		2197	4300	6497	-	-	-	SO:0001583	missense	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5063C>T	16.37:g.3781302G>A	ENSP00000262367:p.Thr1688Met		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.T1688M	ENST00000262367.5	37	c.5063	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	g	17.32	3.359537	0.61403	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.88046	-2.33;-2.25	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.94558	0.8247	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.94567	0.7767	10	0.87932	D	0	-20.9103	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1718;1688	Q4LE28;Q92793	.;CBP_HUMAN	M	1688;1718;1650;223	ENSP00000262367:T1688M;ENSP00000371502:T1650M	ENSP00000262367:T1688M	T	-	2	0	CREBBP	3721303	1.000000	0.71417	0.985000	0.45067	0.960000	0.62799	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	ACG	CREBBP	-	NULL	ENSG00000005339		0.632	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	52	0.00	0	G	NM_004380		3781302	3781302	-1	no_errors	ENST00000262367	ensembl	human	known	69_37n	missense	56	17.65	12	SNP	1.000	A
CRELD1	78987	genome.wustl.edu	37	3	9976279	9976279	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:9976279G>C	ENST00000383811.3	+	1	756	c.157G>C	c.(157-159)Gtt>Ctt	p.V53L	RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000397170.3_Missense_Mutation_p.V53L|CRELD1_ENST00000326434.5_Missense_Mutation_p.V53L|CRELD1_ENST00000452070.1_Missense_Mutation_p.V53L	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	53					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CCGGGGACTGGTTGACAGCTT	0.582																																						dbGAP											0													47.0	41.0	43.0					3																	9976279		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.157G>C	3.37:g.9976279G>C	ENSP00000373322:p.Val53Leu		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	pfam_DUF3456,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_Furin_repeat,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.V53L	ENST00000383811.3	37	c.157	CCDS2593.1	3	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751578	0.31046	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	4.73	3.83	0.44106	.	0.406833	0.24445	N	0.038478	T	0.58133	0.2101	M	0.77616	2.38	0.39304	D	0.964965	P;D	0.54601	0.826;0.967	B;P	0.55391	0.294;0.775	T	0.66779	-0.5837	10	0.72032	D	0.01	.	13.1319	0.59387	0.0:0.1619:0.838:0.0	.	53;53	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	L	53	ENSP00000380355:V53L;ENSP00000373322:V53L;ENSP00000393643:V53L;ENSP00000321856:V53L	ENSP00000321856:V53L	V	+	1	0	CRELD1	9951279	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	3.146000	0.50631	1.099000	0.41499	0.556000	0.70494	GTT	CRELD1	-	pfam_DUF3456	ENSG00000163703		0.582	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRELD1	HGNC	protein_coding	OTTHUMT00000250533.1	46	0.00	0	G	NM_015513		9976279	9976279	+1	no_errors	ENST00000326434	ensembl	human	known	69_37n	missense	44	13.73	7	SNP	1.000	C
CRTC1	23373	genome.wustl.edu	37	19	18886534	18886534	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:18886534G>A	ENST00000321949.8	+	13	1622	c.1596G>A	c.(1594-1596)gcG>gcA	p.A532A	CRTC1_ENST00000338797.6_Silent_p.A548A|CRTC1_ENST00000594658.1_Silent_p.A491A|CRTC1_ENST00000601916.1_Silent_p.A290A	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACTCGCAGGCGGCCATGATGG	0.627																																						dbGAP											0													42.0	43.0	42.0					19																	18886534		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1596G>A	19.37:g.18886534G>A				Silent	SNP	NULL	p.A548	ENST00000321949.8	37	c.1644	CCDS32963.1	19																																																																																			CRTC1	-	NULL	ENSG00000105662		0.627	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC1	HGNC	protein_coding	OTTHUMT00000465151.3	20	0.00	0	G	NM_025021		18886534	18886534	+1	no_errors	ENST00000338797	ensembl	human	known	69_37n	silent	7	46.15	6	SNP	0.495	A
CSF3R	1441	genome.wustl.edu	37	1	36939169	36939169	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:36939169C>A	ENST00000373106.1	-	6	1087	c.540G>T	c.(538-540)aaG>aaT	p.K180N	CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000338937.5_Missense_Mutation_p.K180N|CSF3R_ENST00000373104.1_Missense_Mutation_p.K180N|CSF3R_ENST00000373103.1_Missense_Mutation_p.K180N|CSF3R_ENST00000440588.2_Missense_Mutation_p.K180N|CSF3R_ENST00000418048.2_Missense_Mutation_p.K180N|CSF3R_ENST00000361632.4_Missense_Mutation_p.K180N|CSF3R_ENST00000331941.5_Missense_Mutation_p.K180N	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	180	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCTGCCCGTCCTTGGGCACGC	0.602																																						dbGAP											0													81.0	72.0	75.0					1																	36939169		2203	4300	6503	-	-	-	SO:0001583	missense	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.540G>T	1.37:g.36939169C>A	ENSP00000362198:p.Lys180Asn			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.K180N	ENST00000373106.1	37	c.540	CCDS413.1	1	.	.	.	.	.	.	.	.	.	.	C	3.409	-0.120660	0.06838	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.22	-5.83	0.02325	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.112050	0.06748	N	0.779454	T	0.26810	0.0656	L	0.48642	1.525	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.28396	-1.0045	10	0.22109	T	0.4	-1.8862	9.6177	0.39701	0.0:0.3714:0.0961:0.5324	.	180;180;180;180	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	N	180	ENSP00000362198:K180N;ENSP00000362196:K180N;ENSP00000362195:K180N;ENSP00000355406:K180N;ENSP00000332180:K180N;ENSP00000401588:K180N;ENSP00000345013:K180N;ENSP00000397568:K180N	ENSP00000332180:K180N	K	-	3	2	CSF3R	36711756	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.693000	0.05121	-1.174000	0.02754	-2.005000	0.00442	AAG	CSF3R	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000119535		0.602	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	61	0.00	0	C	NM_156039		36939169	36939169	-1	no_errors	ENST00000373103	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	0.000	A
CSMD1	64478	genome.wustl.edu	37	8	3443744	3443744	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:3443744T>A	ENST00000520002.1	-	10	1694	c.1139A>T	c.(1138-1140)tAc>tTc	p.Y380F	CSMD1_ENST00000602723.1_Missense_Mutation_p.Y380F|CSMD1_ENST00000400186.3_Missense_Mutation_p.Y380F|CSMD1_ENST00000542608.1_Missense_Mutation_p.Y379F|CSMD1_ENST00000602557.1_Missense_Mutation_p.Y380F|CSMD1_ENST00000539096.1_Missense_Mutation_p.Y379F|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y379F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	380	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGGAGCACGTAATTGTCCTC	0.443																																						dbGAP											0													55.0	51.0	52.0					8																	3443744		1910	4122	6032	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1139A>T	8.37:g.3443744T>A	ENSP00000430733:p.Tyr380Phe		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.Y380F	ENST00000520002.1	37	c.1139		8	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808176	0.70797	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.77	5.77	0.91146	.	.	.	.	.	T	0.46367	0.1389	L	0.31526	0.94	0.49582	D	0.999805	P	0.50156	0.932	P	0.61592	0.891	T	0.33650	-0.9860	9	0.39692	T	0.17	.	16.0957	0.81123	0.0:0.0:0.0:1.0	.	380	E5RIG2	.	F	380;380;242;379;379;379	ENSP00000383047:Y380F;ENSP00000430733:Y380F;ENSP00000441462:Y379F;ENSP00000446243:Y379F;ENSP00000441675:Y379F	ENSP00000320445:Y242F	Y	-	2	0	CSMD1	3431152	1.000000	0.71417	0.909000	0.35828	0.321000	0.28281	7.812000	0.86109	2.199000	0.70637	0.533000	0.62120	TAC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	65	0.00	0	T	NM_033225		3443744	3443744	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	52	18.75	12	SNP	1.000	A
CTTNBP2	83992	genome.wustl.edu	37	7	117375131	117375131	+	Missense_Mutation	SNP	A	A	G	rs199634048		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:117375131A>G	ENST00000160373.3	-	16	3803	c.3712T>C	c.(3712-3714)Tac>Cac	p.Y1238H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1238					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCATGAAAGTAATAACATTCG	0.468																																						dbGAP											0													53.0	56.0	55.0					7																	117375131		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3712T>C	7.37:g.117375131A>G	ENSP00000160373:p.Tyr1238His		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Y1238H	ENST00000160373.3	37	c.3712	CCDS5774.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.90|15.90	2.969431|2.969431	0.53614|0.53614	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.61510	.|0.1	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.212522	.|0.50627	.|D	.|0.000102	T|T	0.74329|0.74329	0.3702|0.3702	M|M	0.71920|0.71920	2.185|2.185	0.45108|0.45108	D|D	0.998128|0.998128	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.73820|0.73820	-0.3862|-0.3862	5|10	.|0.36615	.|T	.|0.2	5.5968|5.5968	15.6846|15.6846	0.77400|0.77400	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1238	.|Q8WZ74	.|CTTB2_HUMAN	S|H	725|1238	.|ENSP00000160373:Y1238H	.|ENSP00000160373:Y1238H	L|Y	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117162367|117162367	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.469000|0.469000	0.32828|0.32828	5.685000|5.685000	0.68204|0.68204	2.144000|2.144000	0.66660|0.66660	0.533000|0.533000	0.62120|0.62120	TTA|TAC	CTTNBP2	-	NULL	ENSG00000077063		0.468	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	51	0.00	0	A	NM_033427		117375131	117375131	-1	no_errors	ENST00000160373	ensembl	human	known	69_37n	missense	60	17.81	13	SNP	0.999	G
CUL9	23113	genome.wustl.edu	37	6	43172796	43172796	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:43172796T>C	ENST00000252050.4	+	23	4659	c.4575T>C	c.(4573-4575)gcT>gcC	p.A1525A	CUL9_ENST00000354495.3_Silent_p.A1415A|CUL9_ENST00000372647.2_Silent_p.A1525A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1525					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCATGCTGGCTCTGCGCAGTG	0.597																																						dbGAP											0													59.0	61.0	60.0					6																	43172796		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4575T>C	6.37:g.43172796T>C			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.A1525	ENST00000252050.4	37	c.4575	CCDS4890.1	6																																																																																			CUL9	-	pfam_Cullin_N	ENSG00000112659		0.597	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	77	0.00	0	T	NM_015089		43172796	43172796	+1	no_errors	ENST00000252050	ensembl	human	known	69_37n	silent	80	16.67	16	SNP	0.973	C
CYBRD1	79901	genome.wustl.edu	37	2	172411120	172411120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:172411120delT	ENST00000321348.4	+	4	842	c.644delT	c.(643-645)attfs	p.I215fs	CYBRD1_ENST00000375252.3_Frame_Shift_Del_p.H145fs|CYBRD1_ENST00000409484.1_Frame_Shift_Del_p.I157fs	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	215	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GGGGCCCTCATTTTTTGGATA	0.478																																						dbGAP											0													88.0	82.0	84.0					2																	172411120		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.644delT	2.37:g.172411120delT	ENSP00000319141:p.Ile215fs		B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Frame_Shift_Del	DEL	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.W217fs	ENST00000321348.4	37	c.644	CCDS2244.1	2																																																																																			CYBRD1	-	pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000071967		0.478	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBRD1	HGNC	protein_coding	OTTHUMT00000255344.2	124	0.00	0	T	NM_024843		172411120	172411120	+1	no_errors	ENST00000321348	ensembl	human	known	69_37n	frame_shift_del	83	15.15	15	DEL	0.999	-
CWC22	57703	genome.wustl.edu	37	2	180835741	180835741	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:180835741G>A	ENST00000410053.3	-	9	1166	c.867C>T	c.(865-867)agC>agT	p.S289S	CWC22_ENST00000295749.6_Silent_p.S289S	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	289	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CTACTTCAACGCTATCATCTG	0.363																																						dbGAP											0													112.0	107.0	109.0					2																	180835741		1873	4113	5986	-	-	-	SO:0001819	synonymous_variant	0				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.867C>T	2.37:g.180835741G>A			Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.S289	ENST00000410053.3	37	c.867	CCDS46465.1	2																																																																																			CWC22	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000163510		0.363	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	HGNC	protein_coding	OTTHUMT00000334537.1	184	0.00	0	G	NM_020943		180835741	180835741	-1	no_errors	ENST00000295749	ensembl	human	known	69_37n	silent	113	35.06	61	SNP	1.000	A
DAAM2	23500	genome.wustl.edu	37	6	39866693	39866693	+	Missense_Mutation	SNP	G	G	A	rs535373875		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:39866693G>A	ENST00000398904.2	+	22	2841	c.2659G>A	c.(2659-2661)Ggc>Agc	p.G887S	DAAM2_ENST00000538976.1_Missense_Mutation_p.G887S|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.G887S|RP11-61I13.3_ENST00000437947.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	887	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCTCAGGAGGGGCCTGAGAGC	0.572																																						dbGAP											0													87.0	104.0	99.0					6																	39866693		2059	4198	6257	-	-	-	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2659G>A	6.37:g.39866693G>A	ENSP00000381876:p.Gly887Ser		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.G887S	ENST00000398904.2	37	c.2659	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.302480	0.95601	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.64260	-0.09;-0.09;-0.09	5.35	5.35	0.76521	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.119263	0.56097	D	0.000026	T	0.73466	0.3590	M	0.76938	2.355	0.80722	D	1	P;D	0.58620	0.625;0.983	P;P	0.62014	0.496;0.897	T	0.75875	-0.3163	10	0.66056	D	0.02	.	16.0849	0.81038	0.0:0.0:1.0:0.0	.	887;887	G5EA45;Q86T65	.;DAAM2_HUMAN	S	887	ENSP00000274867:G887S;ENSP00000381876:G887S;ENSP00000437808:G887S	ENSP00000274867:G887S	G	+	1	0	DAAM2	39974671	1.000000	0.71417	0.987000	0.45799	0.936000	0.57629	9.233000	0.95337	2.786000	0.95864	0.655000	0.94253	GGC	DAAM2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000146122		0.572	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	139	0.00	0	G			39866693	39866693	+1	no_errors	ENST00000274867	ensembl	human	known	69_37n	missense	188	22.95	56	SNP	1.000	A
DACH1	1602	genome.wustl.edu	37	13	72063246	72063246	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:72063246delG	ENST00000359684.2	-	8	1766	c.1767delC	c.(1765-1767)gacfs	p.D589fs	DACH1_ENST00000313174.7_Frame_Shift_Del_p.D389fs|DACH1_ENST00000305425.4_Frame_Shift_Del_p.D537fs|DACH1_ENST00000354591.4_Frame_Shift_Del_p.D335fs			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	589					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGTCAAGGCTGTCTCTTGCGG	0.443																																						dbGAP											0													224.0	224.0	224.0					13																	72063246		1910	4139	6049	-	-	-	SO:0001589	frameshift_variant	0			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1767delC	13.37:g.72063246delG	ENSP00000352712:p.Asp589fs		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Frame_Shift_Del	DEL	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.D589fs	ENST00000359684.2	37	c.1767		13																																																																																			DACH1	-	NULL	ENSG00000165659		0.443	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	51	0.00	0	G	NM_004392		72063246	72063246	-1	no_errors	ENST00000359684	ensembl	human	known	69_37n	frame_shift_del	49	12.50	7	DEL	1.000	-
DBN1	1627	genome.wustl.edu	37	5	176885610	176885610	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:176885610C>T	ENST00000309007.5	-	12	1444	c.1225G>A	c.(1225-1227)Gcg>Acg	p.A409T	DBN1_ENST00000292385.5_Missense_Mutation_p.A411T|DBN1_ENST00000393563.4_Missense_Mutation_p.A141T|DBN1_ENST00000393565.1_Missense_Mutation_p.A455T|DBN1_ENST00000512501.1_Missense_Mutation_p.A141T	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	409					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGGAGGCGCCTGTGCCTGA	0.682																																						dbGAP											0													18.0	22.0	21.0					5																	176885610		2196	4297	6493	-	-	-	SO:0001583	missense	0				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1225G>A	5.37:g.176885610C>T	ENSP00000308532:p.Ala409Thr		A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.A411T	ENST00000309007.5	37	c.1231	CCDS4420.1	5	.	.	.	.	.	.	.	.	.	.	C	6.272	0.418212	0.11870	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563	T;T;T;T;T	0.30981	1.55;1.55;1.55;1.51;1.55	4.77	2.94	0.34122	.	1.821730	0.02661	N	0.107568	T	0.19886	0.0478	N	0.08118	0	0.09310	N	1	B;B;B;B	0.23937	0.001;0.094;0.001;0.008	B;B;B;B	0.16722	0.001;0.016;0.004;0.015	T	0.18493	-1.0335	10	0.48119	T	0.1	-6.766	8.9554	0.35814	0.0:0.7622:0.1526:0.0852	.	359;455;409;411	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	T	409;411;455;141;141	ENSP00000308532:A409T;ENSP00000292385:A411T;ENSP00000377195:A455T;ENSP00000423208:A141T;ENSP00000377193:A141T	ENSP00000292385:A411T	A	-	1	0	DBN1	176818216	0.000000	0.05858	0.025000	0.17156	0.632000	0.37999	0.198000	0.17217	1.124000	0.41980	0.462000	0.41574	GCG	DBN1	-	NULL	ENSG00000113758		0.682	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	HGNC	protein_coding	OTTHUMT00000253429.2	29	0.00	0	C	NM_080881		176885610	176885610	-1	no_errors	ENST00000292385	ensembl	human	known	69_37n	missense	14	44.00	11	SNP	0.085	T
DDX27	55661	genome.wustl.edu	37	20	47858504	47858504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:47858504delA	ENST00000371764.4	+	17	2074	c.2065delA	c.(2065-2067)aaafs	p.K691fs	ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K691fs*4(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGGATGCCAAAAAAAAGGG	0.488																																						dbGAP											3	Deletion - Frameshift(3)	large_intestine(2)|ovary(1)											67.0	72.0	70.0					20																	47858504		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2065delA	20.37:g.47858504delA	ENSP00000360828:p.Lys691fs		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.K691fs	ENST00000371764.4	37	c.2065	CCDS13416.1	20																																																																																			DDX27	-	NULL	ENSG00000124228		0.488	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1	70	0.00	0	A			47858504	47858504	+1	no_errors	ENST00000371764	ensembl	human	known	69_37n	frame_shift_del	81	18.00	18	DEL	1.000	-
DEFB126	81623	genome.wustl.edu	37	20	126075	126075	+	Frame_Shift_Del	DEL	G	G	-	rs184470868		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:126075delG	ENST00000382398.3	+	2	338	c.78delG	c.(76-78)aagfs	p.K26fs	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	26					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ATGTGAAAAAGTGTCTAAACG	0.363																																						dbGAP											0													99.0	97.0	98.0					20																	126075		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.78delG	20.37:g.126075delG	ENSP00000371835:p.Lys26fs		Q562G3|Q9H1M5	Frame_Shift_Del	DEL	NULL	p.K26fs	ENST00000382398.3	37	c.78	CCDS12990.1	20																																																																																			DEFB126	-	NULL	ENSG00000125788		0.363	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB126	HGNC	protein_coding	OTTHUMT00000077428.2	74	0.00	0	G	NM_030931		126075	126075	+1	no_errors	ENST00000382398	ensembl	human	known	69_37n	frame_shift_del	41	20.37	11	DEL	0.785	-
DENND1A	57706	genome.wustl.edu	37	9	126219633	126219633	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:126219633A>T	ENST00000373624.2	-	15	1381	c.1180T>A	c.(1180-1182)Tac>Aac	p.Y394N	DENND1A_ENST00000394215.2_Missense_Mutation_p.Y364N|DENND1A_ENST00000394219.3_Missense_Mutation_p.Y362N|DENND1A_ENST00000542603.1_Missense_Mutation_p.Y136N|DENND1A_ENST00000373620.3_Missense_Mutation_p.Y394N|DENND1A_ENST00000373618.1_Missense_Mutation_p.Y362N|DENND1A_ENST00000473039.1_Intron	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	394					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TCACCAGCGTACTCGCCCATG	0.428																																						dbGAP											0													145.0	139.0	141.0					9																	126219633		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1180T>A	9.37:g.126219633A>T	ENSP00000362727:p.Tyr394Asn		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.Y362N	ENST00000373624.2	37	c.1084	CCDS35133.1	9	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912945	0.72983	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T;T	0.23147	3.31;1.92;3.23;3.36;3.24;3.26	5.46	5.46	0.80206	.	0.115692	0.64402	D	0.000009	T	0.48589	0.1508	M	0.72894	2.215	0.80722	D	1	B;B;P;D;D;P	0.76494	0.401;0.224;0.868;0.999;0.964;0.93	B;B;P;D;P;P	0.74348	0.241;0.159;0.651;0.983;0.777;0.671	T	0.38373	-0.9664	10	0.22706	T	0.39	-10.7238	15.8457	0.78887	1.0:0.0:0.0:0.0	.	362;352;362;364;394;394	Q8TEH3-6;Q8TEH3-7;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3	.;.;.;.;.;DEN1A_HUMAN	N	394;136;362;394;364;362	ENSP00000362727:Y394N;ENSP00000437457:Y136N;ENSP00000377766:Y362N;ENSP00000362722:Y394N;ENSP00000377763:Y364N;ENSP00000362720:Y362N	ENSP00000362720:Y362N	Y	-	1	0	DENND1A	125259454	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.680000	0.91225	2.186000	0.69663	0.533000	0.62120	TAC	DENND1A	-	NULL	ENSG00000119522		0.428	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1	104	0.00	0	A	NM_024820		126219633	126219633	-1	no_errors	ENST00000394219	ensembl	human	known	69_37n	missense	55	23.61	17	SNP	1.000	T
DEPDC5	9681	genome.wustl.edu	37	22	32211093	32211093	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:32211093T>A	ENST00000382112.3	+	20	1631	c.1561T>A	c.(1561-1563)Tct>Act	p.S521T	DEPDC5_ENST00000535622.1_Missense_Mutation_p.S521T|DEPDC5_ENST00000400242.3_Missense_Mutation_p.S521T|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S521T|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S521T|DEPDC5_ENST00000536766.1_Missense_Mutation_p.S493T|DEPDC5_ENST00000400246.1_Missense_Mutation_p.S521T|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S521T|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S521T|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S521T	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	521					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAGCCAGGCTTCTGACGACAG	0.567																																						dbGAP											0													98.0	98.0	98.0					22																	32211093		2070	4207	6277	-	-	-	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1561T>A	22.37:g.32211093T>A	ENSP00000371546:p.Ser521Thr		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.S521T	ENST00000382112.3	37	c.1561	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	T	25.7	4.668379	0.88348	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.50813	1.51;1.48;0.73;1.89;1.9;1.87;1.51;1.9;1.87;1.9	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.65333	0.2681	M	0.68952	2.095	0.80722	D	1	P;D;D;B;D;D	0.69078	0.615;0.99;0.982;0.192;0.997;0.99	B;D;D;B;D;D	0.73380	0.219;0.979;0.952;0.061;0.98;0.979	T	0.61192	-0.7112	10	0.22706	T	0.39	.	15.7534	0.78005	0.0:0.0:0.0:1.0	.	521;493;521;521;521;521	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	T	521;493;521;521;521;521;521;521;521;521;521	ENSP00000440210:S521T;ENSP00000441358:S493T;ENSP00000383101:S521T;ENSP00000266091:S521T;ENSP00000383108:S521T;ENSP00000383105:S521T;ENSP00000371539:S521T;ENSP00000371546:S521T;ENSP00000371545:S521T;ENSP00000383107:S521T	ENSP00000266091:S521T	S	+	1	0	DEPDC5	30541093	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.719000	0.84751	2.313000	0.78055	0.456000	0.33151	TCT	DEPDC5	-	NULL	ENSG00000100150		0.567	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	85	0.00	0	T	NM_014662		32211093	32211093	+1	no_errors	ENST00000266091	ensembl	human	known	69_37n	missense	58	26.58	21	SNP	1.000	A
DHTKD1	55526	genome.wustl.edu	37	10	12143133	12143133	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:12143133T>C	ENST00000263035.4	+	10	1911	c.1849T>C	c.(1849-1851)Tac>Cac	p.Y617H		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	617					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GGATGACACCTACATCCCCCT	0.463																																						dbGAP											0													168.0	142.0	151.0					10																	12143133		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1849T>C	10.37:g.12143133T>C	ENSP00000263035:p.Tyr617His		Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.Y617H	ENST00000263035.4	37	c.1849	CCDS7087.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.38|10.38	1.333838|1.333838	0.24253|0.24253	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000448829|ENST00000263035	.|T	.|0.06371	.|3.31	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Transketolase-like, pyrimidine-binding domain (2);	.|0.286677	.|0.40554	.|N	.|0.001072	T|T	0.07279|0.07279	0.0184|0.0184	L|L	0.33093|0.33093	0.98|0.98	0.37890|0.37890	D|D	0.930695|0.930695	.|B	.|0.06786	.|0.001	.|B	.|0.15052	.|0.012	T|T	0.13548|0.13548	-1.0505|-1.0505	5|10	.|0.87932	.|D	.|0	-10.2366|-10.2366	14.2076|14.2076	0.65744|0.65744	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|617	.|Q96HY7	.|DHTK1_HUMAN	P|H	168|617	.|ENSP00000263035:Y617H	.|ENSP00000263035:Y617H	L|Y	+|+	2|1	0|0	DHTKD1|DHTKD1	12183139|12183139	1.000000|1.000000	0.71417|0.71417	0.288000|0.288000	0.24862|0.24862	0.549000|0.549000	0.35272|0.35272	4.424000|4.424000	0.59868|0.59868	2.097000|2.097000	0.63578|0.63578	0.460000|0.460000	0.39030|0.39030	CTA|TAC	DHTKD1	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000181192		0.463	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	121	0.00	0	T	NM_018706		12143133	12143133	+1	no_errors	ENST00000263035	ensembl	human	known	69_37n	missense	122	14.69	21	SNP	1.000	C
DHX35	60625	genome.wustl.edu	37	20	37632533	37632533	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:37632533T>C	ENST00000252011.3	+	11	1027	c.994T>C	c.(994-996)Tca>Cca	p.S332P	DHX35_ENST00000373323.4_Missense_Mutation_p.S301P|DHX35_ENST00000373325.2_Missense_Mutation_p.S332P	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	332	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TGAAAGGGTGTCACGCAGTGT	0.468																																						dbGAP											0													144.0	136.0	139.0					20																	37632533		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.994T>C	20.37:g.37632533T>C	ENSP00000252011:p.Ser332Pro		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S332P	ENST00000252011.3	37	c.994	CCDS13310.1	20	.	.	.	.	.	.	.	.	.	.	T	4.570	0.105884	0.08780	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.08370	4.43;4.43;4.43;3.1	6.08	3.85	0.44370	Helicase, C-terminal (3);	0.163532	0.56097	N	0.000027	T	0.02193	0.0068	N	0.00746	-1.225	0.44241	D	0.997083	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.40515	-0.9559	10	0.02654	T	1	.	10.1341	0.42695	0.0:0.1817:0.0:0.8183	.	301;332	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	P	332;332;301;297	ENSP00000362422:S332P;ENSP00000252011:S332P;ENSP00000362420:S301P;ENSP00000414630:S297P	ENSP00000252011:S332P	S	+	1	0	DHX35	37065947	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	1.674000	0.37544	0.559000	0.29153	0.482000	0.46254	TCA	DHX35	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000101452		0.468	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	HGNC	protein_coding	OTTHUMT00000079212.2	67	0.00	0	T	NM_021931		37632533	37632533	+1	no_errors	ENST00000252011	ensembl	human	known	69_37n	missense	79	11.24	10	SNP	0.986	C
DMXL1	1657	genome.wustl.edu	37	5	118465026	118465026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:118465026delT	ENST00000311085.8	+	10	1303	c.1223delT	c.(1222-1224)gttfs	p.V408fs	DMXL1_ENST00000539542.1_Frame_Shift_Del_p.V408fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	408										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCCATGGAAGTTTTTTTACAG	0.348																																						dbGAP											0													59.0	62.0	61.0					5																	118465026		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.1223delT	5.37:g.118465026delT	ENSP00000309690:p.Val408fs			Frame_Shift_Del	DEL	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L410fs	ENST00000311085.8	37	c.1223	CCDS4125.1	5																																																																																			DMXL1	-	superfamily_WD40_repeat_dom	ENSG00000172869		0.348	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	79	0.00	0	T	NM_005509		118465026	118465026	+1	no_errors	ENST00000539542	ensembl	human	known	69_37n	frame_shift_del	57	18.57	13	DEL	1.000	-
DNAH2	146754	genome.wustl.edu	37	17	7734141	7734141	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:7734141C>G	ENST00000572933.1	+	79	13671	c.12211C>G	c.(12211-12213)Cta>Gta	p.L4071V	DNAH2_ENST00000389173.2_Missense_Mutation_p.L4071V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4071					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACCAGTCTCTATCAACTCC	0.562																																						dbGAP											0													65.0	69.0	68.0					17																	7734141		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12211C>G	17.37:g.7734141C>G	ENSP00000458355:p.Leu4071Val		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.L4071V	ENST00000572933.1	37	c.12211	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	8.805	0.933949	0.18206	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.11169	2.8	5.84	1.47	0.22746	Dynein heavy chain (1);	0.272209	0.31542	N	0.007476	T	0.11495	0.0280	L	0.45470	1.425	0.19575	N	0.999964	B;B	0.32876	0.337;0.388	B;B	0.41691	0.249;0.364	T	0.21075	-1.0256	10	0.24483	T	0.36	.	7.7383	0.28827	0.118:0.6778:0.0:0.2042	.	4032;4071	Q9P225-2;Q9P225	.;DYH2_HUMAN	V	4032;4071	ENSP00000373825:L4071V	ENSP00000353818:L4032V	L	+	1	2	DNAH2	7674866	0.003000	0.15002	0.106000	0.21319	0.272000	0.26649	0.433000	0.21477	0.835000	0.34877	-0.880000	0.02959	CTA	DNAH2	-	pfam_Dynein_heavy	ENSG00000183914		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	74	0.00	0	C	NM_020877		7734141	7734141	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	missense	60	14.29	10	SNP	0.013	G
DNAH17	8632	genome.wustl.edu	37	17	76435299	76435299	+	Splice_Site	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:76435299C>A	ENST00000585328.1	-	73	11787	c.11663G>T	c.(11662-11664)gGa>gTa	p.G3888V	DNAH17_ENST00000389840.5_Splice_Site_p.G3879V|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3879	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGTTTTTTTCCTAAAGAAAA	0.458																																						dbGAP											0													39.0	38.0	38.0					17																	76435299		2202	4298	6500	-	-	-	SO:0001630	splice_region_variant	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11663-1G>T	17.37:g.76435299C>A			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Nonsense_Mutation	SNP	pfam_Dynein_heavy,superfamily_HR1_rho-bd	p.E1094*	ENST00000585328.1	37	c.3280		17	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180610	0.78677	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.10860	2.83	5.36	5.36	0.76844	.	0.000000	0.56097	D	0.000027	T	0.44973	0.1319	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.57768	-0.7754	10	0.72032	D	0.01	.	18.6943	0.91594	0.0:1.0:0.0:0.0	.	3888	E7EUM8	.	V	3888;3879	ENSP00000374490:G3879V	ENSP00000300671:G3888V	G	-	2	0	DNAH17	73946894	1.000000	0.71417	0.950000	0.38849	0.702000	0.40608	7.699000	0.84547	2.502000	0.84385	0.655000	0.94253	GGA	DNAH17	-	pfam_Dynein_heavy	ENSG00000187775		0.458	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	53	0.00	0	C	NM_173628	Missense_Mutation	76435299	76435299	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000591369	ensembl	human	known	69_37n	nonsense	19	45.71	16	SNP	1.000	A
DNAJB1	3337	genome.wustl.edu	37	19	14627523	14627525	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:14627523_14627525delTCT	ENST00000254322.2	-	2	615_617	c.545_547delAGA	c.(544-549)aagatg>atg	p.K182del	DNAJB1_ENST00000396969.4_In_Frame_Del_p.K82del	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	182					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		GAGATTTTCATCTTCTTGGTACA	0.522																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"""Heat shock proteins / DNAJ (HSP40)"""	5270	protein-coding gene	gene with protein product	"""radial spoke 16 homolog B (Chlamydomonas)"""	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.545_547delAGA	19.37:g.14627526_14627528delTCT	ENSP00000254322:p.Lys182del		B4DX52	In_Frame_Del	DEL	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.K182in_frame_del	ENST00000254322.2	37	c.547_545	CCDS12312.1	19																																																																																			DNAJB1	-	superfamily_HSP40/DnaJ_pept-bd	ENSG00000132002		0.522	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB1	HGNC	protein_coding	OTTHUMT00000465987.1	171	0.00	0	TCT	NM_006145		14627523	14627525	-1	no_errors	ENST00000254322	ensembl	human	known	69_37n	in_frame_del	106	18.46	24	DEL	1.000:1.000:1.000	-
DNAJC5B	85479	genome.wustl.edu	37	8	66989041	66989041	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:66989041A>G	ENST00000276570.5	+	4	553	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	89						membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CTGGGACTCTACGTGGCCGAG	0.458																																						dbGAP											0													187.0	152.0	164.0					8																	66989041		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.266A>G	8.37:g.66989041A>G	ENSP00000276570:p.Tyr89Cys		Q969Y8	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.Y89C	ENST00000276570.5	37	c.266	CCDS6183.1	8	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731098	0.69189	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.73152	-0.72;-0.72	5.73	5.73	0.89815	Heat shock protein DnaJ, N-terminal (2);	0.000000	0.64402	D	0.000001	D	0.86640	0.5981	M	0.89968	3.075	0.58432	D	0.999999	D	0.76494	0.999	D	0.70935	0.971	D	0.89235	0.3580	10	0.66056	D	0.02	.	16.0152	0.80434	1.0:0.0:0.0:0.0	.	89	Q9UF47	DNJ5B_HUMAN	C	89	ENSP00000276570:Y89C;ENSP00000430196:Y89C	ENSP00000276570:Y89C	Y	+	2	0	DNAJC5B	67151595	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	7.421000	0.80204	2.180000	0.69256	0.533000	0.62120	TAC	DNAJC5B	-	superfamily_DnaJ_N,prints_Hsp_DnaJ	ENSG00000147570		0.458	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC5B	HGNC	protein_coding	OTTHUMT00000378915.1	61	0.00	0	A	NM_033105		66989041	66989041	+1	no_errors	ENST00000276570	ensembl	human	known	69_37n	missense	115	12.88	17	SNP	1.000	G
DOCK9	23348	genome.wustl.edu	37	13	99550452	99550452	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:99550452G>A	ENST00000376460.1	-	14	1647	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S	DOCK9_ENST00000339416.2_Missense_Mutation_p.P524S|DOCK9_ENST00000448493.2_Missense_Mutation_p.P535S|DOCK9_ENST00000442173.1_Missense_Mutation_p.P523S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	524					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAAGCAAATGGCATTCTATAC	0.428																																						dbGAP											0													99.0	90.0	93.0					13																	99550452		1949	4145	6094	-	-	-	SO:0001583	missense	0			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1567C>T	13.37:g.99550452G>A	ENSP00000365643:p.Pro523Ser		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P524S	ENST00000376460.1	37	c.1570	CCDS45062.1	13	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769223	0.90020	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.994;0.98;1.0	T	0.78001	-0.2375	9	.	.	.	.	19.1089	0.93309	0.0:0.0:1.0:0.0	.	524;523;523;523;524	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	S	523;524;524;524;523;524;535;523	ENSP00000365643:P523S;ENSP00000341086:P524S;ENSP00000401958:P535S;ENSP00000406883:P523S	.	P	-	1	0	DOCK9	98348453	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.418000	0.97395	2.508000	0.84585	0.650000	0.86243	CCA	DOCK9	-	NULL	ENSG00000088387		0.428	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	106	0.00	0	G	NM_015296		99550452	99550452	-1	no_errors	ENST00000339416	ensembl	human	known	69_37n	missense	139	10.90	17	SNP	1.000	A
DOK2	9046	genome.wustl.edu	37	8	21768297	21768297	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:21768297A>G	ENST00000276420.4	-	4	763	c.505T>C	c.(505-507)Tcc>Ccc	p.S169P	DOK2_ENST00000544659.1_Missense_Mutation_p.S15P	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	169	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AGGGTATAGGACCCCCGCAGG	0.632																																						dbGAP											0													29.0	35.0	33.0					8																	21768297		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.505T>C	8.37:g.21768297A>G	ENSP00000276420:p.Ser169Pro		Q8N5A4	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.S169P	ENST00000276420.4	37	c.505	CCDS6016.1	8	.	.	.	.	.	.	.	.	.	.	A	6.684	0.494803	0.12702	.	.	ENSG00000147443	ENST00000276420;ENST00000544659;ENST00000518197;ENST00000523932	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.16	-1.8	0.07907	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.550801	0.19217	N	0.119791	T	0.48677	0.1513	N	0.20357	0.565	0.09310	N	0.999997	B;B	0.09022	0.002;0.002	B;B	0.15484	0.013;0.013	T	0.19192	-1.0313	10	0.29301	T	0.29	.	1.2368	0.01955	0.2712:0.1193:0.1492:0.4603	.	169;169	O60496;A8K7W1	DOK2_HUMAN;.	P	169;15;15;169	ENSP00000276420:S169P;ENSP00000443602:S15P;ENSP00000430729:S15P;ENSP00000429224:S169P	ENSP00000276420:S169P	S	-	1	0	DOK2	21824243	0.000000	0.05858	0.043000	0.18650	0.770000	0.43624	-1.208000	0.03005	-0.588000	0.05882	0.533000	0.62120	TCC	DOK2	-	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	ENSG00000147443		0.632	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK2	HGNC	protein_coding	OTTHUMT00000253735.3	47	0.00	0	A	NM_003974		21768297	21768297	-1	no_errors	ENST00000276420	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	0.002	G
DPH2	1802	genome.wustl.edu	37	1	44437174	44437174	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:44437174G>A	ENST00000255108.3	+	4	772	c.600G>A	c.(598-600)ggG>ggA	p.G200G	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Silent_p.G65G|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	200					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AGCGTTTTGGGCGCCGCTTCC	0.622																																						dbGAP											0													67.0	69.0	68.0					1																	44437174		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.600G>A	1.37:g.44437174G>A			A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	tigrfam_DPH1/DPH2	p.A126T	ENST00000255108.3	37	c.376	CCDS504.1	1																																																																																			DPH2	-	NULL	ENSG00000132768		0.622	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1	60	0.00	0	G	NM_001384		44437174	44437174	+1	no_errors	ENST00000524776	ensembl	human	known	69_37n	missense	49	23.44	15	SNP	1.000	A
DPYSL3	1809	genome.wustl.edu	37	5	146780284	146780284	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:146780284G>A	ENST00000398514.3	-	10	1452	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	DPYSL3_ENST00000534907.1_Intron|CTB-108O6.2_ENST00000607270.1_RNA|DPYSL3_ENST00000343218.5_Missense_Mutation_p.R475W	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	361					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGACATCCGCTCCTCCACA	0.567																																						dbGAP											0													114.0	120.0	118.0					5																	146780284		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1081C>T	5.37:g.146780284G>A	ENSP00000381526:p.Arg361Trp		B3SXQ8|Q93012	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R361W	ENST00000398514.3	37	c.1081	CCDS43381.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.60|19.60	3.858199|3.858199	0.71834|0.71834	.|.	.|.	ENSG00000113657|ENSG00000113657	ENST00000520473|ENST00000398514;ENST00000343218	.|D;D	.|0.90133	.|-2.62;-2.62	5.53|5.53	3.61|3.61	0.41365|0.41365	.|Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96706|0.96706	0.8925|0.8925	H|H	0.96861|0.96861	3.895|3.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.97673|0.97673	1.0168|1.0168	5|10	.|0.87932	.|D	.|0	-14.7583|-14.7583	13.4456|13.4456	0.61138|0.61138	0.0:0.0:0.5972:0.4028|0.0:0.0:0.5972:0.4028	.|.	.|475;361	.|B3SXQ8;Q14195	.|.;DPYL3_HUMAN	V|W	59|361;475	.|ENSP00000381526:R361W;ENSP00000343690:R475W	.|ENSP00000343690:R475W	A|R	-|-	2|1	0|2	DPYSL3|DPYSL3	146760477|146760477	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	2.036000|2.036000	0.41165|0.41165	1.451000|1.451000	0.47736|0.47736	-0.188000|-0.188000	0.12872|0.12872	GCG|CGG	DPYSL3	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000113657		0.567	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2	166	0.00	0	G	NM_001387		146780284	146780284	-1	no_errors	ENST00000398514	ensembl	human	known	69_37n	missense	142	15.38	26	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56473919	56473919	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:56473919T>C	ENST00000361203.3	-	36	4881	c.4874A>G	c.(4873-4875)aAa>aGa	p.K1625R	DST_ENST00000446842.2_Missense_Mutation_p.K1299R|DST_ENST00000312431.6_Missense_Mutation_p.K1625R|DST_ENST00000370769.4_Missense_Mutation_p.K1625R|DST_ENST00000370754.5_Missense_Mutation_p.K1803R|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	1625					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTTAGTTCTTTGAGTTGGCA	0.393																																						dbGAP											0													191.0	183.0	186.0					6																	56473919		1875	4111	5986	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4874A>G	6.37:g.56473919T>C	ENSP00000354508:p.Lys1625Arg		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.K1803R	ENST00000361203.3	37	c.5408		6	.	.	.	.	.	.	.	.	.	.	T	8.735	0.917517	0.17982	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.52	-1.46	0.08800	.	1.025340	0.07772	N	0.951886	T	0.22322	0.0538	.	.	.	0.26279	N	0.978307	B	0.18310	0.027	B	0.19666	0.026	T	0.04593	-1.0940	8	0.08837	T	0.75	.	6.904	0.24299	0.0:0.1445:0.2214:0.6341	.	1299	Q03001-9	.	R	1803;1625;1299;1625;1625;1299	ENSP00000359790:K1803R;ENSP00000359805:K1625R;ENSP00000393645:K1299R;ENSP00000307959:K1625R;ENSP00000354508:K1625R;ENSP00000404924:K1299R	ENSP00000307959:K1625R	K	-	2	0	DST	56581878	0.015000	0.18098	0.022000	0.16811	0.831000	0.47069	0.411000	0.21115	-0.385000	0.07833	-0.385000	0.06624	AAA	DST	-	pfam_Plectin_repeat,superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	146	0.00	0	T	NM_001723		56473919	56473919	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	245	12.81	36	SNP	0.194	C
DUSP26	78986	genome.wustl.edu	37	8	33451226	33451226	+	Silent	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:33451226G>T	ENST00000256261.4	-	3	778	c.261C>A	c.(259-261)ggC>ggA	p.G87G	DUSP26_ENST00000523956.1_Silent_p.G87G	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	87	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CGTGCGTGATGCCCAGGCGGC	0.627																																						dbGAP											0													58.0	53.0	55.0					8																	33451226		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.261C>A	8.37:g.33451226G>T			D3DSV8|Q9BTW0	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP	p.G87	ENST00000256261.4	37	c.261	CCDS6092.1	8																																																																																			DUSP26	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP	ENSG00000133878		0.627	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP26	HGNC	protein_coding	OTTHUMT00000376564.1	39	0.00	0	G	NM_024025		33451226	33451226	-1	no_errors	ENST00000256261	ensembl	human	known	69_37n	silent	20	54.55	24	SNP	1.000	T
DYNC1H1	1778	genome.wustl.edu	37	14	102442138	102442138	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:102442138T>C	ENST00000360184.4	+	2	508		c.e2+2			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATCCAATAGGTGAGTAGTACA	0.294																																						dbGAP											0													61.0	64.0	63.0					14																	102442138		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.344+2T>C	14.37:g.102442138T>C			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	-	e2+2	ENST00000360184.4	37	c.344+2	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	T	19.74	3.884646	0.72410	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3321	0.74223	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101511891	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.281000	0.78621	2.016000	0.59253	0.383000	0.25322	.	DYNC1H1	-	-	ENSG00000197102		0.294	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	102	0.00	0	T	NM_001376	Intron	102442138	102442138	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	splice_site	54	15.62	10	SNP	1.000	C
DYNC1I1	1780	genome.wustl.edu	37	7	95665026	95665026	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:95665026T>C	ENST00000324972.6	+	13	1570	c.1377T>C	c.(1375-1377)agT>agC	p.S459S	DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000457059.1_Silent_p.S442S|DYNC1I1_ENST00000447467.2_Silent_p.S442S|DYNC1I1_ENST00000437599.1_Silent_p.S439S|DYNC1I1_ENST00000537881.1_Silent_p.S422S|DYNC1I1_ENST00000359388.4_Silent_p.S422S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	459					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGGTTGGCAGTGAGGAAGGTA	0.463																																						dbGAP											0													350.0	284.0	306.0					7																	95665026		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1377T>C	7.37:g.95665026T>C			B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S459	ENST00000324972.6	37	c.1377	CCDS5644.1	7																																																																																			DYNC1I1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000158560		0.463	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	133	0.00	0	T	NM_004411		95665026	95665026	+1	no_errors	ENST00000324972	ensembl	human	known	69_37n	silent	116	20.00	29	SNP	0.313	C
EDEM2	55741	genome.wustl.edu	37	20	33703267	33703267	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:33703267A>G	ENST00000374492.3	-	11	1811	c.1706T>C	c.(1705-1707)tTa>tCa	p.L569S	EDEM2_ENST00000541621.1_Missense_Mutation_p.L348S|EDEM2_ENST00000542871.1_Missense_Mutation_p.L293S|EDEM2_ENST00000374491.3_Missense_Mutation_p.L532S|SNORD56_ENST00000364281.1_RNA	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	569					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTGTCCCAGTAATGCCAACTT	0.428																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	dbGAP											0													151.0	152.0	152.0					20																	33703267		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1706T>C	20.37:g.33703267A>G	ENSP00000363616:p.Leu569Ser		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L569S	ENST00000374492.3	37	c.1706	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	A	17.51	3.408606	0.62399	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871	T;T;T;T	0.59364	0.27;0.27;1.86;1.86	5.15	5.15	0.70609	.	0.553008	0.18295	N	0.145598	T	0.46521	0.1397	N	0.24115	0.695	0.80722	D	1	P;P;B	0.40476	0.589;0.718;0.421	B;B;B	0.38842	0.122;0.283;0.075	T	0.53507	-0.8429	10	0.66056	D	0.02	-8.4522	15.1219	0.72450	1.0:0.0:0.0:0.0	.	348;532;569	G3V1Q0;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	S	532;569;348;293	ENSP00000363615:L532S;ENSP00000363616:L569S;ENSP00000443528:L348S;ENSP00000441642:L293S	ENSP00000363615:L532S	L	-	2	0	EDEM2	33166928	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	9.139000	0.94554	2.165000	0.68154	0.459000	0.35465	TTA	EDEM2	-	NULL	ENSG00000088298		0.428	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	89	0.00	0	A	NM_018217		33703267	33703267	-1	no_errors	ENST00000374492	ensembl	human	known	69_37n	missense	122	16.89	25	SNP	0.990	G
AGO3	192669	genome.wustl.edu	37	1	36520695	36520695	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:36520695A>G	ENST00000373191.4	+	18	2772	c.2423A>G	c.(2422-2424)cAc>cGc	p.H808R	AGO3_ENST00000246314.6_Missense_Mutation_p.H574R|AGO3_ENST00000471099.1_3'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	808	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				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)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										TATTATGCTCACCTGGTAGCA	0.428																																						dbGAP											0													123.0	98.0	106.0					1																	36520695		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2423A>G	1.37:g.36520695A>G	ENSP00000362287:p.His808Arg		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.H808R	ENST00000373191.4	37	c.2423	CCDS399.1	1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932776	0.52866	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.32988	1.43;1.43	5.7	5.7	0.88788	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.59404	0.2191	M	0.92122	3.275	0.80722	D	1	B	0.18310	0.027	B	0.43575	0.424	T	0.63296	-0.6669	10	0.52906	T	0.07	-34.1799	15.9698	0.80004	1.0:0.0:0.0:0.0	.	808	Q9H9G7	AGO3_HUMAN	R	808;574	ENSP00000362287:H808R;ENSP00000246314:H574R	ENSP00000246314:H574R	H	+	2	0	EIF2C3	36293282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.225000	0.72271	2.183000	0.69458	0.533000	0.62120	CAC	EIF2C3	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000126070		0.428	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C3	HGNC	protein_coding	OTTHUMT00000019831.4	134	0.00	0	A	NM_024852		36520695	36520695	+1	no_errors	ENST00000373191	ensembl	human	known	69_37n	missense	124	16.22	24	SNP	1.000	G
EIF4A1	1973	genome.wustl.edu	37	17	7480800	7480800	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:7480800C>T	ENST00000293831.8	+	7	779	c.763C>T	c.(763-765)Cga>Tga	p.R255*	EIF4A1_ENST00000577269.1_Nonsense_Mutation_p.R255*|EIF4A1_ENST00000582746.1_Nonsense_Mutation_p.R255*|SNORA48_ENST00000386847.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|CD68_ENST00000250092.6_5'Flank|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000380498.6_5'Flank|SNORA67_ENST00000384423.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	255	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CAACGTGGAACGAGAGGTGGG	0.552																																					Melanoma(120;278 1668 15796 27423 46368)	dbGAP											0													60.0	53.0	55.0					17																	7480800		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.763C>T	17.37:g.7480800C>T	ENSP00000293831:p.Arg255*		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R255*	ENST00000293831.8	37	c.763	CCDS11113.1	17	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753937	0.69648	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	.	.	.	5.16	3.09	0.35607	.	0.060757	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-28.1231	11.9709	0.53063	0.3153:0.6847:0.0:0.0	.	.	.	.	X	255;78	.	ENSP00000293831:R255X	R	+	1	2	EIF4A1	7421524	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.658000	0.37376	0.518000	0.28383	0.491000	0.48974	CGA	EIF4A1	-	pfscan_Helicase_C	ENSG00000161960		0.552	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A1	HGNC	protein_coding	OTTHUMT00000226952.6	63	0.00	0	C	NM_001416		7480800	7480800	+1	no_errors	ENST00000293831	ensembl	human	known	69_37n	nonsense	67	14.10	11	SNP	1.000	T
ELF1	1997	genome.wustl.edu	37	13	41507736	41507736	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:41507736G>C	ENST00000239882.3	-	9	1999	c.1685C>G	c.(1684-1686)aCa>aGa	p.T562R	ELF1_ENST00000442101.1_Missense_Mutation_p.T538R|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	562					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		AAGAGTTTTTGTTTCTTGAGT	0.443																																						dbGAP											0													122.0	120.0	121.0					13																	41507736		2203	4300	6503	-	-	-	SO:0001583	missense	0			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1685C>G	13.37:g.41507736G>C	ENSP00000239882:p.Thr562Arg		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.T562R	ENST00000239882.3	37	c.1685	CCDS9374.1	13	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804618	0.31961	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.20598	2.07;2.06	5.84	4.99	0.66335	.	0.412070	0.26590	N	0.023528	T	0.14830	0.0358	L	0.29908	0.895	0.32336	N	0.560406	P;P	0.39717	0.498;0.684	B;B	0.31812	0.1;0.136	T	0.13255	-1.0516	10	0.59425	D	0.04	.	12.7148	0.57109	0.1363:0.0:0.8637:0.0	.	538;562	E9PDQ9;P32519	.;ELF1_HUMAN	R	538;304;562	ENSP00000405580:T538R;ENSP00000239882:T562R	ENSP00000239882:T562R	T	-	2	0	ELF1	40405736	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.155000	0.50700	1.469000	0.48083	0.591000	0.81541	ACA	ELF1	-	NULL	ENSG00000120690		0.443	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	HGNC	protein_coding	OTTHUMT00000044654.3	107	0.00	0	G	NM_172373		41507736	41507736	-1	no_errors	ENST00000239882	ensembl	human	known	69_37n	missense	125	10.71	15	SNP	0.975	C
ELFN2	114794	genome.wustl.edu	37	22	37770126	37770126	+	Silent	SNP	G	G	A	rs201073943		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:37770126G>A	ENST00000402918.2	-	3	2234	c.1449C>T	c.(1447-1449)acC>acT	p.T483T	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	483					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					ACCCCTTGGCGGTGGGCAGCT	0.677																																						dbGAP											0													50.0	53.0	52.0					22																	37770126		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1449C>T	22.37:g.37770126G>A			Q96PY3	Silent	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor	p.T483	ENST00000402918.2	37	c.1449	CCDS33642.1	22																																																																																			ELFN2	-	NULL	ENSG00000166897		0.677	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2	23	0.00	0	G	NM_052906		37770126	37770126	-1	no_errors	ENST00000349653	ensembl	human	known	69_37n	silent	36	16.28	7	SNP	0.011	A
EMC3	55831	genome.wustl.edu	37	3	10018676	10018677	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:10018676_10018677insT	ENST00000245046.2	-	3	729_730	c.271_272insA	c.(271-273)actfs	p.T91fs	EMC3_ENST00000429759.1_Frame_Shift_Ins_p.T129fs|EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	91						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CTTCCGTTTAGTTTTTTTGAAA	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"""transmembrane protein 111"""	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.272dupA	3.37:g.10018683_10018683dupT	ENSP00000245046:p.Thr91fs		B2R4Z9|Q53GH8|Q6ZMC2	Frame_Shift_Ins	INS	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	p.T91fs	ENST00000245046.2	37	c.272_271	CCDS2594.1	3																																																																																			EMC3	-	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	ENSG00000125037		0.347	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC3	HGNC	protein_coding	OTTHUMT00000250532.1	128	0.00	0	-	NM_018447		10018676	10018677	-1	no_errors	ENST00000245046	ensembl	human	known	69_37n	frame_shift_ins	96	14.29	16	INS	1.000:1.000	T
EMC9	51016	genome.wustl.edu	37	14	24610102	24610102	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:24610102G>C	ENST00000419198.2	-	2	551	c.271C>G	c.(271-273)Cag>Gag	p.Q91E	EMC9_ENST00000560403.1_De_novo_Start_InFrame|EMC9_ENST00000558200.1_5'UTR|EMC9_ENST00000216799.4_Missense_Mutation_p.Q91E|PSME2_ENST00000471700.2_5'Flank|RP11-468E2.5_ENST00000558478.1_lincRNA			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	91						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											ACTCACCTCTGATCGTTCACA	0.597																																						dbGAP											0													99.0	90.0	93.0					14																	24610102		2203	4300	6503	-	-	-	SO:0001583	missense	0			BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.271C>G	14.37:g.24610102G>C	ENSP00000403210:p.Gln91Glu		D3DS60|Q9BUM3	Missense_Mutation	SNP	pfam_UPF0172	p.Q91E	ENST00000419198.2	37	c.271	CCDS9613.1	14	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769247	0.49680	.	.	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	.	0.202421	0.45867	D	0.000333	T	0.28797	0.0714	L	0.29908	0.895	0.33520	D	0.592248	B	0.16396	0.017	B	0.25614	0.062	T	0.23476	-1.0187	10	0.06365	T	0.9	.	11.9574	0.52988	0.0:0.0:0.8266:0.1734	.	91	Q9Y3B6	F158A_HUMAN	E	91	ENSP00000403210:Q91E;ENSP00000216799:Q91E	ENSP00000216799:Q91E	Q	-	1	0	FAM158A	23679942	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.584000	0.46102	2.598000	0.87819	0.462000	0.41574	CAG	EMC9	-	pfam_UPF0172	ENSG00000100908		0.597	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EMC9	HGNC	protein_coding	OTTHUMT00000071917.4	93	0.00	0	G	NM_016049		24610102	24610102	-1	no_errors	ENST00000216799	ensembl	human	known	69_37n	missense	73	33.03	36	SNP	1.000	C
EML6	400954	genome.wustl.edu	37	2	55143983	55143983	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:55143983G>A	ENST00000356458.6	+	25	4106	c.3586G>A	c.(3586-3588)Gta>Ata	p.V1196I		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	1196						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						TATAACTGACGTAAATGCTGC	0.463																																						dbGAP											0													155.0	134.0	140.0					2																	55143983		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.3586G>A	2.37:g.55143983G>A	ENSP00000348842:p.Val1196Ile		A8MUB5|B6ZDG7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1196I	ENST00000356458.6	37	c.3586	CCDS46286.1	2	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543519	0.27563	.	.	ENSG00000214595	ENST00000356458	T	0.42513	0.97	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.33089	0.0851	L	0.35644	1.08	0.44570	D	0.997531	B	0.14438	0.01	B	0.11329	0.006	T	0.07927	-1.0747	9	0.16420	T	0.52	.	14.3514	0.66705	0.071:0.0:0.929:0.0	.	1196	Q6ZMW3	EMAL6_HUMAN	I	1196	ENSP00000348842:V1196I	ENSP00000348842:V1196I	V	+	1	0	EML6	54997487	0.999000	0.42202	0.637000	0.29366	0.047000	0.14425	2.842000	0.48230	2.843000	0.97960	0.650000	0.86243	GTA	EML6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000214595		0.463	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	99	0.00	0	G	XM_001725002		55143983	55143983	+1	no_errors	ENST00000356458	ensembl	human	novel	69_37n	missense	72	11.11	9	SNP	0.988	A
ENAM	10117	genome.wustl.edu	37	4	71508990	71508990	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:71508990G>A	ENST00000396073.3	+	9	2128	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	616					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCATACCTTAGAGGCAATACA	0.438																																						dbGAP											0													144.0	149.0	148.0					4																	71508990		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1847G>A	4.37:g.71508990G>A	ENSP00000379383:p.Arg616Lys		Q17RI5|Q9H3D1	Missense_Mutation	SNP	NULL	p.R616K	ENST00000396073.3	37	c.1847	CCDS3544.2	4	.	.	.	.	.	.	.	.	.	.	G	5.540	0.284516	0.10513	.	.	ENSG00000132464	ENST00000396073	T	0.32023	1.47	5.83	4.98	0.66077	.	0.293408	0.29956	N	0.010778	T	0.33498	0.0865	M	0.62723	1.935	0.09310	N	1	P	0.38535	0.635	B	0.41088	0.347	T	0.17623	-1.0363	10	0.27785	T	0.31	-2.6951	11.33	0.49470	0.0846:0.0:0.9154:0.0	.	616	Q9NRM1	ENAM_HUMAN	K	616	ENSP00000379383:R616K	ENSP00000379383:R616K	R	+	2	0	ENAM	71727854	0.001000	0.12720	0.004000	0.12327	0.012000	0.07955	0.261000	0.18442	1.449000	0.47699	0.655000	0.94253	AGA	ENAM	-	NULL	ENSG00000132464		0.438	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	62	0.00	0	G	NM_031889		71508990	71508990	+1	no_errors	ENST00000396073	ensembl	human	known	69_37n	missense	72	17.24	15	SNP	0.009	A
ENOSF1	55556	genome.wustl.edu	37	18	685992	685992	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr18:685992C>A	ENST00000251101.7	-	10	758	c.670G>T	c.(670-672)Ggt>Tgt	p.G224C	ENOSF1_ENST00000580982.1_Missense_Mutation_p.G148C|ENOSF1_ENST00000383578.3_Missense_Mutation_p.G142C|ENOSF1_ENST00000340116.7_Missense_Mutation_p.G245C|ENOSF1_ENST00000319815.6_5'UTR|ENOSF1_ENST00000583973.1_5'UTR	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	224					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						AGATCAGCACCCACCTTTACT	0.453																																						dbGAP											0													165.0	145.0	152.0					18																	685992		2203	4300	6503	-	-	-	SO:0001583	missense	0			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.670G>T	18.37:g.685992C>A	ENSP00000251101:p.Gly224Cys		A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C	p.G245C	ENST00000251101.7	37	c.733	CCDS11822.1	18	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037749	0.54896	.	.	ENSG00000132199	ENST00000383578;ENST00000251101;ENST00000340116	T;T;T	0.57436	0.4;0.4;0.4	5.6	5.6	0.85130	Mandelate racemase/muconate lactonizing enzyme, C-terminal (2);	0.048182	0.85682	D	0.000000	T	0.82167	0.4978	H	0.95982	3.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.87612	0.2504	10	0.87932	D	0	.	18.3845	0.90462	0.0:1.0:0.0:0.0	.	245;43;269;224;142	A6NMP3;B3KXE4;Q6ZS08;Q7L5Y1;Q7L5Y1-2	.;.;.;ENOF1_HUMAN;.	C	142;224;245	ENSP00000373072:G142C;ENSP00000251101:G224C;ENSP00000345974:G245C	ENSP00000251101:G224C	G	-	1	0	ENOSF1	675992	1.000000	0.71417	0.938000	0.37757	0.235000	0.25334	5.440000	0.66563	2.652000	0.90054	0.561000	0.74099	GGT	ENOSF1	-	pfam_Mandelate_racemase_C,smart_Mandelate_racemase_C	ENSG00000132199		0.453	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOSF1	HGNC	protein_coding	OTTHUMT00000254312.2	142	0.70	1	C	NM_017512		685992	685992	-1	no_errors	ENST00000340116	ensembl	human	known	69_37n	missense	122	14.69	21	SNP	0.999	A
ENOX1	55068	genome.wustl.edu	37	13	43986108	43986108	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:43986108G>A	ENST00000261488.6	-	5	729	c.152C>T	c.(151-153)gCc>gTc	p.A51V	ENOX1_ENST00000412891.1_Missense_Mutation_p.A51V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	51					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTTATTCATGGCTGTAGCCCA	0.547																																						dbGAP											0													126.0	108.0	114.0					13																	43986108		2203	4300	6503	-	-	-	SO:0001583	missense	0			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.152C>T	13.37:g.43986108G>A	ENSP00000261488:p.Ala51Val		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A51V	ENST00000261488.6	37	c.152	CCDS9389.1	13	.	.	.	.	.	.	.	.	.	.	G	33	5.219891	0.95139	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.57595	0.39;0.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.69531	0.3121	L	0.55481	1.735	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.70055	-0.4977	10	0.72032	D	0.01	-4.8673	18.9867	0.92773	0.0:0.0:1.0:0.0	.	51	Q8TC92	ENOX1_HUMAN	V	51	ENSP00000261488:A51V;ENSP00000415054:A51V	ENSP00000261488:A51V	A	-	2	0	ENOX1	42884108	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.040000	0.93783	2.805000	0.96524	0.460000	0.39030	GCC	ENOX1	-	NULL	ENSG00000120658		0.547	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	104	0.00	0	G	NM_017993		43986108	43986108	-1	no_errors	ENST00000261488	ensembl	human	known	69_37n	missense	133	10.14	15	SNP	1.000	A
ZBTB8B	728116	genome.wustl.edu	37	1	32937111	32937111	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:32937111G>A	ENST00000609129.1	+	2	964	c.886G>A	c.(886-888)Gca>Aca	p.A296T	RP1-27O5.3_ENST00000480336.1_Missense_Mutation_p.A296T	NM_001145720.1	NP_001139192.1	Q8NAP8	ZBT8B_HUMAN	zinc finger and BTB domain containing 8B	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)	1						CAAGGATGATGCAGACCATCA	0.557																																						dbGAP											0													50.0	46.0	47.0					1																	32937111		692	1591	2283	-	-	-	SO:0001583	missense	0			AL442095	CCDS44104.1	1p35.1	2013-01-08			ENSG00000215897	ENSG00000273274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	37057	protein-coding gene	gene with protein product							Standard	NM_001145720		Approved	RP1-27O5.1, DKFZp547H154, ZNF916B	uc001bvl.4	Q8NAP8	OTTHUMG00000167087	ENST00000609129.1:c.886G>A	1.37:g.32937111G>A	ENSP00000476499:p.Ala296Thr		Q15DG5|Q5VXR5|Q69YT7	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A296T	ENST00000609129.1	37	c.886	CCDS44104.1	1	.	.	.	.	.	.	.	.	.	.	G	9.057	0.993522	0.19043	.	.	ENSG00000215897	ENST00000415091	T	0.11495	2.77	5.17	1.15	0.20763	.	2.701780	0.01074	N	0.004879	T	0.06826	0.0174	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29822	-0.9999	10	0.13470	T	0.59	.	2.0508	0.03571	0.2247:0.134:0.503:0.1382	.	296	Q8NAP8	ZBT8B_HUMAN	T	296	ENSP00000400836:A296T	ENSP00000435749:A296T	A	+	1	0	ZBTB8B	32709698	0.000000	0.05858	0.000000	0.03702	0.279000	0.26890	0.165000	0.16564	0.026000	0.15269	0.650000	0.86243	GCA	RP1-27O5.3	-	NULL	ENSG00000254553		0.557	ZBTB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254553	Clone_based_vega_gene	protein_coding	OTTHUMT00000392986.2	19	0.00	0	G	NM_001145720		32937111	32937111	+1	no_errors	ENST00000480336	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	0.000	A
ENTPD8	377841	genome.wustl.edu	37	9	140330201	140330201	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:140330201G>C	ENST00000472938.1	-	7	1147	c.1131C>G	c.(1129-1131)atC>atG	p.I377M	ENTPD8_ENST00000371506.2_Missense_Mutation_p.I377M|ENTPD8_ENST00000344119.2_Intron			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	377					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		AAAACTCCCAGATGGTGGCGT	0.637																																						dbGAP											0													89.0	96.0	93.0					9																	140330201		2021	4192	6213	-	-	-	SO:0001583	missense	0			AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.1131C>G	9.37:g.140330201G>C	ENSP00000420531:p.Ile377Met		A2BG17|Q6UVZ0	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.I377M	ENST00000472938.1	37	c.1131	CCDS43913.1	9	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.338187	0.01287	.	.	ENSG00000188833	ENST00000371506;ENST00000472938	T;T	0.12569	2.67;2.67	4.3	1.1	0.20463	.	1.219660	0.05846	N	0.620245	T	0.13200	0.0320	L	0.39020	1.185	0.09310	N	0.999995	B	0.25169	0.119	B	0.33121	0.158	T	0.44787	-0.9305	10	0.15952	T	0.53	-3.4158	8.691	0.34267	0.0941:0.2917:0.6143:0.0	.	377	Q5MY95	ENTP8_HUMAN	M	377	ENSP00000360561:I377M;ENSP00000420531:I377M	ENSP00000360561:I377M	I	-	3	3	ENTPD8	139450022	0.095000	0.21747	0.856000	0.33681	0.029000	0.11900	0.890000	0.28295	0.436000	0.26393	-0.305000	0.09177	ATC	ENTPD8	-	pfam_GDA1_CD39_NTPase	ENSG00000188833		0.637	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD8	HGNC	protein_coding	OTTHUMT00000355991.1	105	0.00	0	G	NM_198585		140330201	140330201	-1	no_errors	ENST00000371506	ensembl	human	known	69_37n	missense	96	22.58	28	SNP	0.292	C
EP400	57634	genome.wustl.edu	37	12	132546701	132546701	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:132546701C>T	ENST00000333577.4	+	47	8148	c.8039C>T	c.(8038-8040)cCg>cTg	p.P2680L	EP400_ENST00000332482.4_Missense_Mutation_p.P2607L|EP400_ENST00000330386.6_Missense_Mutation_p.P2563L|EP400_ENST00000389561.2_Missense_Mutation_p.P2644L|EP400_ENST00000389562.2_Missense_Mutation_p.P2643L			Q96L91	EP400_HUMAN	E1A binding protein p400	2680	Interaction with ZNF42. {ECO:0000250}.				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)			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)		ACCCAGCCCCCGCCACGGGCA	0.637																																						dbGAP											0													29.0	32.0	31.0					12																	132546701		2203	4299	6502	-	-	-	SO:0001583	missense	0			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.8039C>T	12.37:g.132546701C>T	ENSP00000333602:p.Pro2680Leu		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_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.P2680L	ENST00000333577.4	37	c.8039		12	.	.	.	.	.	.	.	.	.	.	C	3.518	-0.098435	0.07010	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.65;-2.67	0.559	-0.838	0.10762	.	.	.	.	.	T	0.70544	0.3236	N	0.08118	0	0.27087	N	0.962958	P;P;P	0.40197	0.706;0.706;0.706	B;B;B	0.22753	0.041;0.041;0.041	T	0.64976	-0.6280	8	0.27082	T	0.32	.	.	.	.	.	2644;2563;2643	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	L	2680;2644;2643;2607;2563;2644	ENSP00000333602:P2680L;ENSP00000374212:P2644L;ENSP00000374213:P2643L;ENSP00000331737:P2607L;ENSP00000330620:P2563L	ENSP00000330620:P2563L	P	+	2	0	EP400	131112654	0.002000	0.14202	0.884000	0.34674	0.699000	0.40488	-0.512000	0.06313	-0.387000	0.07809	-0.397000	0.06425	CCG	EP400	-	NULL	ENSG00000183495		0.637	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		27	0.00	0	C	NM_015409		132546701	132546701	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	missense	26	20.59	7	SNP	0.979	T
EPB41L3	23136	genome.wustl.edu	37	18	5443847	5443847	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr18:5443847delT	ENST00000341928.2	-	5	859	c.519delA	c.(517-519)aaafs	p.K173fs	EPB41L3_ENST00000540638.2_Frame_Shift_Del_p.K173fs|EPB41L3_ENST00000544123.1_Frame_Shift_Del_p.K173fs|EPB41L3_ENST00000342933.3_Frame_Shift_Del_p.K173fs|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Frame_Shift_Del_p.K173fs	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	173	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTCGAACCTGTTTTTTTATTT	0.343																																						dbGAP											0													96.0	95.0	96.0					18																	5443847		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.519delA	18.37:g.5443847delT	ENSP00000343158:p.Lys173fs		B7Z4I5|F5GX05|O95713|Q9BRP5	Frame_Shift_Del	DEL	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.K173fs	ENST00000341928.2	37	c.519	CCDS11838.1	18																																																																																			EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin	ENSG00000082397		0.343	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	138	0.00	0	T	NM_012307		5443847	5443847	-1	no_errors	ENST00000341928	ensembl	human	known	69_37n	frame_shift_del	159	10.11	18	DEL	0.999	-
EPHB1	2047	genome.wustl.edu	37	3	134851765	134851765	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:134851765G>A	ENST00000398015.3	+	5	1541	c.1171G>A	c.(1171-1173)Gtc>Atc	p.V391I	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	391	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGAGTGCCGCGTCTCCATCAG	0.622																																						dbGAP											0													41.0	47.0	45.0					3																	134851765		2198	4296	6494	-	-	-	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1171G>A	3.37:g.134851765G>A	ENSP00000381097:p.Val391Ile		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.V391I	ENST00000398015.3	37	c.1171	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857984	0.71834	.	.	ENSG00000154928	ENST00000398015	T	0.60040	0.22	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.72961	0.3526	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70594	-0.4829	10	0.40728	T	0.16	.	19.4235	0.94732	0.0:0.0:1.0:0.0	.	391	P54762	EPHB1_HUMAN	I	391	ENSP00000381097:V391I	ENSP00000381097:V391I	V	+	1	0	EPHB1	136334455	1.000000	0.71417	0.954000	0.39281	0.631000	0.37964	8.008000	0.88588	2.590000	0.87494	0.655000	0.94253	GTC	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154928		0.622	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	28	0.00	0	G	NM_004441		134851765	134851765	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	1.000	A
EPHB1	2047	genome.wustl.edu	37	3	134977954	134977954	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:134977954A>T	ENST00000398015.3	+	16	3317	c.2947A>T	c.(2947-2949)Atg>Ttg	p.M983L	EPHB1_ENST00000493838.1_Missense_Mutation_p.M544L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	983					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACCAACGGCAATGGCATGAGA	0.507																																						dbGAP											0													68.0	62.0	64.0					3																	134977954		1950	4157	6107	-	-	-	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2947A>T	3.37:g.134977954A>T	ENSP00000381097:p.Met983Leu		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.M983L	ENST00000398015.3	37	c.2947	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483088	0.26598	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.73047	-0.57;-0.71	5.63	4.46	0.54185	.	0.216101	0.46758	D	0.000276	T	0.47358	0.1441	N	0.08118	0	0.36797	D	0.885167	B	0.02656	0.0	B	0.01281	0.0	T	0.42783	-0.9431	10	0.11182	T	0.66	.	12.1232	0.53903	0.8715:0.0:0.0:0.1285	.	983	P54762	EPHB1_HUMAN	L	983;544	ENSP00000381097:M983L;ENSP00000419574:M544L	ENSP00000381097:M983L	M	+	1	0	EPHB1	136460644	1.000000	0.71417	0.863000	0.33907	0.882000	0.50991	2.624000	0.46444	0.937000	0.37394	0.459000	0.35465	ATG	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000154928		0.507	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	121	0.00	0	A	NM_004441		134977954	134977954	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	missense	142	25.26	48	SNP	0.756	T
EPHB6	2051	genome.wustl.edu	37	7	142567573	142567573	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:142567573C>G	ENST00000392957.2	+	17	3248	c.2461C>G	c.(2461-2463)Cca>Gca	p.P821A	EPHB6_ENST00000442129.1_Missense_Mutation_p.P821A|EPHB6_ENST00000411471.2_Missense_Mutation_p.P544A	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	821	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCCTCAGGGCCCAAGTTGTTT	0.438																																						dbGAP											0													79.0	72.0	74.0					7																	142567573		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2461C>G	7.37:g.142567573C>G	ENSP00000376684:p.Pro821Ala		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.P821A	ENST00000392957.2	37	c.2461	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964892	0.34659	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.81247	-1.47;-1.47;-1.47	5.69	-0.625	0.11548	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.498628	0.17089	N	0.187463	T	0.52058	0.1711	N	0.02334	-0.595	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.49062	-0.8978	10	0.72032	D	0.01	.	4.9759	0.14140	0.0:0.2872:0.2704:0.4424	.	821;544	O15197;O15197-2	EPHB6_HUMAN;.	A	821;821;544	ENSP00000376684:P821A;ENSP00000410789:P821A;ENSP00000409061:P544A	ENSP00000376684:P821A	P	+	1	0	EPHB6	142277695	1.000000	0.71417	0.125000	0.21846	0.476000	0.33039	2.661000	0.46758	0.173000	0.19788	0.563000	0.77884	CCA	EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000106123		0.438	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	74	0.00	0	C			142567573	142567573	+1	no_errors	ENST00000392957	ensembl	human	known	69_37n	missense	60	21.05	16	SNP	0.001	G
ERCC6	2074	genome.wustl.edu	37	10	50708659	50708659	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:50708659C>T	ENST00000355832.5	-	7	1688	c.1610G>A	c.(1609-1611)gGc>gAc	p.G537D	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	537	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GATGGTCTTGCCCAATCCCAT	0.507								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													165.0	140.0	148.0					10																	50708659		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1610G>A	10.37:g.50708659C>T	ENSP00000348089:p.Gly537Asp		D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G537D	ENST00000355832.5	37	c.1610	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477658	0.84640	.	.	ENSG00000225830	ENST00000355832	D	0.99940	-8.38	5.87	5.87	0.94306	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.99966	0.9987	H	0.99794	4.785	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96565	0.9418	9	0.87932	D	0	-26.5829	20.5827	0.99408	0.0:1.0:0.0:0.0	.	537	Q03468	ERCC6_HUMAN	D	537	ENSP00000348089:G537D	ENSP00000348089:G537D	G	-	2	0	ERCC6	50378665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GGC	ERCC6	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000225830		0.507	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	97	0.00	0	C	NM_000124		50708659	50708659	-1	no_errors	ENST00000355832	ensembl	human	known	69_37n	missense	93	15.45	17	SNP	1.000	T
EXOSC2	23404	genome.wustl.edu	37	9	133570878	133570878	+	Splice_Site	DEL	G	G	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:133570878delG	ENST00000372358.5	+	2	193		c.e2-1		EXOSC2_ENST00000546165.1_Splice_Site|EXOSC2_ENST00000372351.3_Splice_Site|EXOSC2_ENST00000372352.3_Splice_Site			Q13868	EXOS2_HUMAN	exosome component 2						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|7S RNA binding (GO:0008312)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		CCTTGCATCAGGGGCCATGGA	0.468																																					Pancreas(134;1683 1824 10118 27928 31640)	dbGAP											0													201.0	196.0	198.0					9																	133570878		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK001916	CCDS6935.1, CCDS65160.1, CCDS65161.1	9q34	2008-02-05			ENSG00000130713	ENSG00000130713			17097	protein-coding gene	gene with protein product	"""homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"""	602238				8600032, 1538749	Standard	XM_005272176		Approved	hRrp4p, Rrp4p, RRP4, p7	uc004bzu.2	Q13868	OTTHUMG00000020811	ENST00000372358.5:c.123-1G>-	9.37:g.133570878delG			A3KFL3|B4DKK6|Q9NUY4	Splice_Site	DEL	-	e2-1	ENST00000372358.5	37	c.123-1	CCDS6935.1	9																																																																																			EXOSC2	-	-	ENSG00000130713		0.468	EXOSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC2	HGNC	protein_coding	OTTHUMT00000054673.1	188	0.00	0	G	NM_014285	Intron	133570878	133570878	+1	no_errors	ENST00000372358	ensembl	human	known	69_37n	splice_site_del	88	24.58	29	DEL	1.000	-
EXPH5	23086	genome.wustl.edu	37	11	108382318	108382318	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:108382318A>G	ENST00000265843.4	-	6	4026	c.3916T>C	c.(3916-3918)Tca>Cca	p.S1306P	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.S1118P|EXPH5_ENST00000428840.1_Missense_Mutation_p.S1230P|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1299P	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1306					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGTGTTCCTGACTGCTCTCGT	0.388																																						dbGAP											0													95.0	99.0	98.0					11																	108382318		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3916T>C	11.37:g.108382318A>G	ENSP00000265843:p.Ser1306Pro		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.S1306P	ENST00000265843.4	37	c.3916	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469538	0.26423	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.05717	4.04;3.9;3.76;4.04;3.8;3.4	5.98	-2.88	0.05682	.	0.781519	0.11596	N	0.548225	T	0.03608	0.0103	L	0.34521	1.04	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.44907	-0.9297	10	0.21540	T	0.41	-5.1003	1.8359	0.03140	0.46:0.2233:0.2082:0.1086	.	1306	Q8NEV8	EXPH5_HUMAN	P	1306;1230;1118;1299;1230;1118	ENSP00000265843:S1306P;ENSP00000391966:S1230P;ENSP00000411390:S1118P;ENSP00000432546:S1299P;ENSP00000432683:S1230P;ENSP00000446434:S1118P	ENSP00000265843:S1306P	S	-	1	0	EXPH5	107887528	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.257000	0.08745	-0.122000	0.11766	-0.376000	0.06991	TCA	EXPH5	-	NULL	ENSG00000110723		0.388	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	122	0.00	0	A	NM_015065		108382318	108382318	-1	no_errors	ENST00000265843	ensembl	human	known	69_37n	missense	174	11.22	22	SNP	0.000	G
EZH2	2146	genome.wustl.edu	37	7	148525867	148525868	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:148525867_148525868delTC	ENST00000460911.1	-	6	677_678	c.589_590delGA	c.(589-591)gaafs	p.E198fs	EZH2_ENST00000536783.1_Frame_Shift_Del_p.E89fs|EZH2_ENST00000476773.1_Frame_Shift_Del_p.E189fs|EZH2_ENST00000483967.1_Frame_Shift_Del_p.E189fs|EZH2_ENST00000320356.2_Frame_Shift_Del_p.E198fs|EZH2_ENST00000541220.1_Frame_Shift_Del_p.E189fs|EZH2_ENST00000350995.2_Frame_Shift_Del_p.E159fs|EZH2_ENST00000478654.1_Frame_Shift_Del_p.E189fs			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	198	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CTGCTTTTCTTCTCTTTCTTCA	0.381			Mis		DLBCL																																	dbGAP		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.589_590delGA	7.37:g.148525869_148525870delTC	ENSP00000419711:p.Glu198fs		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Frame_Shift_Del	DEL	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.E197fs	ENST00000460911.1	37	c.590_589	CCDS56516.1	7																																																																																			EZH2	-	smart_SANT/Myb	ENSG00000106462		0.381	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	HGNC	protein_coding	OTTHUMT00000352744.1	234	0.00	0	TC	NM_004456		148525867	148525868	-1	no_errors	ENST00000320356	ensembl	human	known	69_37n	frame_shift_del	132	16.88	27	DEL	1.000:1.000	-
F2R	2149	genome.wustl.edu	37	5	76028611	76028611	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:76028611C>T	ENST00000319211.4	+	2	826	c.561C>T	c.(559-561)taC>taT	p.Y187Y		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	187			Y -> N (in dbSNP:rs2230849).		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	GTAACATGTACGCCTCTATCT	0.493																																						dbGAP											0													191.0	188.0	189.0					5																	76028611		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.561C>T	5.37:g.76028611C>T			Q53XV0|Q96RF7|Q9BUN4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Thrmbn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.Y187	ENST00000319211.4	37	c.561	CCDS4032.1	5																																																																																			F2R	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181104		0.493	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2R	HGNC	protein_coding	OTTHUMT00000254068.2	81	0.00	0	C			76028611	76028611	+1	no_errors	ENST00000319211	ensembl	human	known	69_37n	silent	57	20.83	15	SNP	0.300	T
FAM111A	63901	genome.wustl.edu	37	11	58919903	58919903	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:58919903G>A	ENST00000528737.1	+	5	3580	c.762G>A	c.(760-762)caG>caA	p.Q254Q	FAM111A_ENST00000533703.1_Silent_p.Q254Q|FAM111A_ENST00000420244.1_Silent_p.Q254Q|FAM111A_ENST00000361723.3_Silent_p.Q254Q|FAM111A_ENST00000531147.1_Silent_p.Q254Q			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	254					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAAGCACCCAGCCAGTTGATG	0.423																																						dbGAP											0													94.0	94.0	94.0					11																	58919903		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.762G>A	11.37:g.58919903G>A			A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.Q254	ENST00000528737.1	37	c.762	CCDS7973.1	11																																																																																			FAM111A	-	NULL	ENSG00000166801		0.423	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	65	0.00	0	G	NM_022074		58919903	58919903	+1	no_errors	ENST00000361723	ensembl	human	known	69_37n	silent	50	16.67	10	SNP	0.002	A
FADS2	9415	genome.wustl.edu	37	11	61630806	61630806	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:61630806A>G	ENST00000278840.4	+	9	1663	c.1033A>G	c.(1033-1035)Atg>Gtg	p.M345V	FADS2_ENST00000257261.6_Missense_Mutation_p.M323V|FADS2_ENST00000521849.1_Missense_Mutation_p.M345V|FADS2_ENST00000522056.1_Missense_Mutation_p.M314V	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	345					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TCACATCGTCATGGAGATTGA	0.607																																						dbGAP											0													94.0	84.0	88.0					11																	61630806		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.1033A>G	11.37:g.61630806A>G	ENSP00000278840:p.Met345Val		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5	p.M345V	ENST00000278840.4	37	c.1033	CCDS8012.1	11	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070658	0.76301	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000278840;ENST00000521849;ENST00000355484	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	4.49	4.49	0.54785	Fatty acid desaturase, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.38852	0.1056	M	0.79926	2.475	0.54753	D	0.999989	P;P;D;P	0.57257	0.772;0.804;0.979;0.611	B;P;P;B	0.59115	0.439;0.542;0.852;0.312	T	0.36432	-0.9748	10	0.59425	D	0.04	-6.0792	13.4627	0.61235	1.0:0.0:0.0:0.0	.	314;345;345;323	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	V	323;314;345;345;111	ENSP00000257261:M323V;ENSP00000429500:M314V;ENSP00000278840:M345V;ENSP00000431091:M345V;ENSP00000437965:M111V	ENSP00000257261:M323V	M	+	1	0	FADS2	61387382	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	8.237000	0.89807	1.979000	0.57680	0.374000	0.22700	ATG	FADS2	-	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase	ENSG00000134824		0.607	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS2	HGNC	protein_coding	OTTHUMT00000375586.2	37	0.00	0	A	NM_004265		61630806	61630806	+1	no_errors	ENST00000278840	ensembl	human	known	69_37n	missense	80	16.67	16	SNP	1.000	G
FAM151A	338094	genome.wustl.edu	37	1	55085649	55085649	+	Silent	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:55085649G>T	ENST00000302250.2	-	2	310	c.150C>A	c.(148-150)gcC>gcA	p.A50A	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Silent_p.A50A|RP11-240D10.4_ENST00000416119.1_RNA	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	50						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCAGCATGTCGGCATCAGGGC	0.607																																						dbGAP											0													69.0	62.0	64.0					1																	55085649		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.150C>A	1.37:g.55085649G>T			Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Silent	SNP	pfam_DUF2181	p.A50	ENST00000302250.2	37	c.150	CCDS594.1	1																																																																																			FAM151A	-	NULL	ENSG00000162391		0.607	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1	74	0.00	0	G	NM_176782		55085649	55085649	-1	no_errors	ENST00000302250	ensembl	human	known	69_37n	silent	42	27.59	16	SNP	0.041	T
FAM154B	283726	genome.wustl.edu	37	15	82574982	82574982	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:82574982A>G	ENST00000339465.5	+	3	845	c.776A>G	c.(775-777)cAg>cGg	p.Q259R	FAM154B_ENST00000427381.2_Missense_Mutation_p.Q244R|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	259										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GTTCCATATCAGGCCAACCAT	0.428																																						dbGAP											0													96.0	89.0	91.0					15																	82574982		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.776A>G	15.37:g.82574982A>G	ENSP00000340445:p.Gln259Arg		B4E2M2	Missense_Mutation	SNP	NULL	p.Q259R	ENST00000339465.5	37	c.776	CCDS32310.1	15	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.674278	0.00758	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.17370	2.28;2.28	3.93	-4.17	0.03857	.	0.361356	0.24554	N	0.037538	T	0.10766	0.0263	M	0.63428	1.95	0.09310	N	1	B;B	0.16802	0.019;0.004	B;B	0.16289	0.015;0.015	T	0.33523	-0.9865	10	0.18276	T	0.48	-0.3687	1.5594	0.02591	0.4411:0.2328:0.2132:0.113	.	244;259	B4E2M2;Q658L1	.;F154B_HUMAN	R	259;244	ENSP00000340445:Q259R;ENSP00000403743:Q244R	ENSP00000340445:Q259R	Q	+	2	0	FAM154B	80362037	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.461000	0.21940	-0.929000	0.03757	0.332000	0.21555	CAG	FAM154B	-	NULL	ENSG00000188659		0.428	FAM154B-001	KNOWN	basic|CCDS	protein_coding	FAM154B	HGNC	protein_coding	OTTHUMT00000419644.1	73	0.00	0	A	NM_001008226		82574982	82574982	+1	no_errors	ENST00000339465	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	0.000	G
FAM168B	130074	genome.wustl.edu	37	2	131810547	131810547	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:131810547delG	ENST00000409185.1	-	6	624	c.517delC	c.(517-519)cacfs	p.H173fs	FAM168B_ENST00000389915.3_Frame_Shift_Del_p.H173fs	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	173						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						GTGACCGGGTGGGGGGCGACA	0.602																																						dbGAP											0													21.0	26.0	25.0					2																	131810547		2085	4190	6275	-	-	-	SO:0001589	frameshift_variant	0				CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.517delC	2.37:g.131810547delG	ENSP00000387051:p.His173fs		Q2TAZ6|Q6NZ40	Frame_Shift_Del	DEL	NULL	p.H173fs	ENST00000409185.1	37	c.517	CCDS42755.1	2																																																																																			FAM168B	-	NULL	ENSG00000152102		0.602	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM168B	HGNC	protein_coding	OTTHUMT00000331299.2	51	0.00	0	G	NM_001009993		131810547	131810547	-1	no_errors	ENST00000389915	ensembl	human	known	69_37n	frame_shift_del	53	13.11	8	DEL	1.000	-
FAM46D	169966	genome.wustl.edu	37	X	79698295	79698295	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:79698295delT	ENST00000308293.5	+	3	496	c.257delT	c.(256-258)attfs	p.I86fs	FAM46D_ENST00000538312.1_Frame_Shift_Del_p.I86fs	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	86										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CTGGACGTTATTTTTGGTGTT	0.383																																						dbGAP											0													107.0	97.0	100.0					X																	79698295		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.257delT	X.37:g.79698295delT	ENSP00000308575:p.Ile86fs		B2R9Q6|Q7Z3F6|Q8NHU1	Frame_Shift_Del	DEL	pfam_DUF1693	p.F87fs	ENST00000308293.5	37	c.257	CCDS14446.1	X																																																																																			FAM46D	-	pfam_DUF1693	ENSG00000174016		0.383	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46D	HGNC	protein_coding	OTTHUMT00000057338.1	88	0.00	0	T	NM_152630		79698295	79698295	+1	no_errors	ENST00000308293	ensembl	human	known	69_37n	frame_shift_del	99	14.53	17	DEL	1.000	-
FAM47C	442444	genome.wustl.edu	37	X	37026522	37026522	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:37026522G>A	ENST00000358047.3	+	1	91	c.39G>A	c.(37-39)ccG>ccA	p.P13P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	13										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAGTTCCCCGGGCATGGACT	0.657																																						dbGAP											0													21.0	20.0	20.0					X																	37026522		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.39G>A	X.37:g.37026522G>A			Q6ZU46	Silent	SNP	NULL	p.P13	ENST00000358047.3	37	c.39	CCDS35227.1	X																																																																																			FAM47C	-	NULL	ENSG00000198173		0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	37	0.00	0	G	NM_001013736		37026522	37026522	+1	no_errors	ENST00000358047	ensembl	human	known	69_37n	silent	37	15.91	7	SNP	0.055	A
BRINP3	339479	genome.wustl.edu	37	1	190067686	190067686	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:190067686A>C	ENST00000367462.3	-	8	1994	c.1763T>G	c.(1762-1764)gTg>gGg	p.V588G	BRINP3_ENST00000534846.1_Missense_Mutation_p.V486G	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	588					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GTTTTCATTCACAGGCATAAA	0.458																																						dbGAP											0													134.0	139.0	137.0					1																	190067686		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1763T>G	1.37:g.190067686A>C	ENSP00000356432:p.Val588Gly		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.V588G	ENST00000367462.3	37	c.1763	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.401220	0.62288	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.20463	2.33;2.07	5.81	5.81	0.92471	.	0.063082	0.64402	D	0.000007	T	0.36248	0.0960	L	0.56769	1.78	0.80722	D	1	D;D	0.61697	0.99;0.984	P;P	0.55260	0.772;0.597	T	0.10706	-1.0618	10	0.87932	D	0	.	14.1101	0.65115	1.0:0.0:0.0:0.0	.	486;588	B7Z260;Q76B58	.;FAM5C_HUMAN	G	588;486	ENSP00000356432:V588G;ENSP00000438022:V486G	ENSP00000356432:V588G	V	-	2	0	FAM5C	188334309	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.268000	0.72552	2.220000	0.72140	0.477000	0.44152	GTG	FAM5C	-	NULL	ENSG00000162670		0.458	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	89	0.00	0	A	NM_199051		190067686	190067686	-1	no_errors	ENST00000367462	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	1.000	C
SPATA31D5P	347127	genome.wustl.edu	37	9	84531345	84531345	+	RNA	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:84531345C>T	ENST00000527857.1	+	0	1367					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		TCCAAAACAACGTAGGCCAAA	0.393																																						dbGAP											0																																										-	-	-			0					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84531345C>T				RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			FAM75D5	-	-	ENSG00000240632		0.393	SPATA31D5P-002	KNOWN	basic	processed_transcript	FAM75D5	HGNC	pseudogene	OTTHUMT00000052810.2	29	0.00	0	C	NR_026851		84531345	84531345	+1	no_errors	ENST00000527857	ensembl	human	known	69_37n	rna	26	18.75	6	SNP	0.000	T
FAM83B	222584	genome.wustl.edu	37	6	54805054	54805055	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:54805054_54805055TC>CA	ENST00000306858.7	+	5	1401_1402	c.1285_1286TC>CA	c.(1285-1287)TCa>CAa	p.S429Q	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	429										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGCGTCCTCATCACGGGAAGGC	0.46																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	Exception_encountered	6.37:g.54805054_54805055delinsCA	ENSP00000304078:p.Ser429Gln		Q2M1P3|Q96DQ2	Missense_Mutation|Nonsense_Mutation	SNP	pfam_DUF1669	p.S429P|p.S429*	ENST00000306858.7	37	c.1285|c.1286	CCDS34479.1	6																																																																																			FAM83B	-	NULL	ENSG00000168143		0.460	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	56|54	0.00	0	T|C	XM_294139		54805054|54805055	54805054|54805055	+1	no_errors	ENST00000306858	ensembl	human	known	69_37n	missense|nonsense	78|79	21.21|21.00	21	SNP	0.701|0.365	C|A
FAM9B	171483	genome.wustl.edu	37	X	8995993	8995993	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:8995993T>C	ENST00000327220.5	-	7	772	c.408A>G	c.(406-408)gaA>gaG	p.E136E	FAM9B_ENST00000428477.1_Silent_p.E136E|FAM9B_ENST00000362066.3_Silent_p.E176E			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	136						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TCTTCTGTTGTTCTTGAAATA	0.328																																						dbGAP											0													172.0	145.0	154.0					X																	8995993		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.408A>G	X.37:g.8995993T>C			Q0IJ68|Q8N7Z8	Silent	SNP	pfam_Cor1/Xlr/Xmr	p.E136	ENST00000327220.5	37	c.408	CCDS14132.1	X																																																																																			FAM9B	-	pfam_Cor1/Xlr/Xmr	ENSG00000177138		0.328	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9B	HGNC	protein_coding	OTTHUMT00000055702.2	302	0.00	0	T	NM_205849		8995993	8995993	-1	no_errors	ENST00000327220	ensembl	human	known	69_37n	silent	140	27.08	52	SNP	0.481	C
FANCF	2188	genome.wustl.edu	37	11	22646476	22646477	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:22646476_22646477insA	ENST00000327470.3	-	1	910_911	c.880_881insT	c.(880-882)tggfs	p.W294fs	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	294					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						AGTTCCAACCCAAATGCCTTTC	0.51			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP	yes	Rec		Fanconi anaemia F	11	11p15	2188	"""Fanconi anemia, complementation group F"""		L	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.881dupT	11.37:g.22646479_22646479dupA	ENSP00000330875:p.Trp294fs	757	Q52LM0	Frame_Shift_Ins	INS	NULL	p.W294fs	ENST00000327470.3	37	c.881_880	CCDS7857.1	11																																																																																			FANCF	-	NULL	ENSG00000183161		0.510	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCF	HGNC	protein_coding	OTTHUMT00000387712.2	44	0.00	0	-	NM_022725		22646476	22646477	-1	no_errors	ENST00000327470	ensembl	human	known	69_37n	frame_shift_ins	63	11.27	8	INS	0.997:0.979	A
FAT3	120114	genome.wustl.edu	37	11	92086398	92086398	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:92086398A>G	ENST00000298047.6	+	1	1137	c.1120A>G	c.(1120-1122)Att>Gtt	p.I374V	FAT3_ENST00000541502.1_Missense_Mutation_p.I374V|FAT3_ENST00000525166.1_Missense_Mutation_p.I224V|FAT3_ENST00000409404.2_Missense_Mutation_p.I374V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	374	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACTGTCCCCATTAGATTTGA	0.413										TCGA Ovarian(4;0.039)																												dbGAP											0													81.0	77.0	78.0					11																	92086398		1897	4128	6025	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1120A>G	11.37:g.92086398A>G	ENSP00000298047:p.Ile374Val		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.I374V	ENST00000298047.6	37	c.1120		11	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.946422	0.00475	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.72505	-0.64;-0.65;0.61;-0.66	4.89	-2.35	0.06684	.	.	.	.	.	T	0.30166	0.0756	N	0.01529	-0.815	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32929	-0.9888	9	0.02654	T	1	.	2.4121	0.04427	0.358:0.1935:0.3504:0.0982	.	374	Q8TDW7-3	.	V	374;374;374;224	ENSP00000298047:I374V;ENSP00000387040:I374V;ENSP00000443786:I374V;ENSP00000432586:I224V	ENSP00000298047:I374V	I	+	1	0	FAT3	91726046	0.000000	0.05858	0.034000	0.17996	0.835000	0.47333	-0.019000	0.12546	-0.389000	0.07786	-0.147000	0.13772	ATT	FAT3	-	superfamily_Cadherin-like	ENSG00000165323		0.413	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		134	0.00	0	A	NM_001008781		92086398	92086398	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	130	11.49	17	SNP	0.018	G
FAT3	120114	genome.wustl.edu	37	11	92573800	92573800	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:92573800C>G	ENST00000298047.6	+	17	10458	c.10441C>G	c.(10441-10443)Ccc>Gcc	p.P3481A	FAT3_ENST00000525166.1_Missense_Mutation_p.P3331A|FAT3_ENST00000409404.2_Missense_Mutation_p.P3481A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3481	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAATGGGCCTCCCTTTTCATT	0.478										TCGA Ovarian(4;0.039)																												dbGAP											0													84.0	84.0	84.0					11																	92573800		1894	4128	6022	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10441C>G	11.37:g.92573800C>G	ENSP00000298047:p.Pro3481Ala		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.P3481A	ENST00000298047.6	37	c.10441		11	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799940	0.90538	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.49139	0.79;0.79;0.79	5.2	5.2	0.72013	.	.	.	.	.	T	0.72779	0.3503	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77603	-0.2526	9	0.87932	D	0	.	18.7694	0.91885	0.0:1.0:0.0:0.0	.	3481	Q8TDW7-3	.	A	3481;3481;3331	ENSP00000298047:P3481A;ENSP00000387040:P3481A;ENSP00000432586:P3331A	ENSP00000298047:P3481A	P	+	1	0	FAT3	92213448	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.755000	0.85180	2.422000	0.82143	0.655000	0.94253	CCC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.478	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		104	0.00	0	C	NM_001008781		92573800	92573800	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	139	18.71	32	SNP	1.000	G
FCRL3	115352	genome.wustl.edu	37	1	157648595	157648595	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:157648595C>G	ENST00000368184.3	-	15	2401	c.2110G>C	c.(2110-2112)Gca>Cca	p.A704P	FCRL3_ENST00000368186.5_Missense_Mutation_p.A704P|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	704						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCCTCCCCTGCAGAGTCGTCT	0.468																																						dbGAP											0													115.0	103.0	107.0					1																	157648595		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.2110G>C	1.37:g.157648595C>G	ENSP00000357167:p.Ala704Pro		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A704P	ENST00000368184.3	37	c.2110	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	C	7.636	0.679793	0.14907	.	.	ENSG00000160856	ENST00000368186;ENST00000368184	T;T	0.55413	0.53;0.52	3.75	-5.96	0.02234	.	8.786060	0.00357	N	0.000023	T	0.20861	0.0502	L	0.58101	1.795	0.09310	N	1	B;B;B	0.22683	0.015;0.073;0.034	B;B;B	0.18561	0.008;0.022;0.015	T	0.10753	-1.0616	10	0.42905	T	0.14	.	3.2165	0.06701	0.1189:0.1894:0.1385:0.5532	.	704;609;704	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	P	704	ENSP00000357169:A704P;ENSP00000357167:A704P	ENSP00000357167:A704P	A	-	1	0	FCRL3	155915219	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.374000	0.02566	-1.517000	0.01780	-0.140000	0.14226	GCA	FCRL3	-	NULL	ENSG00000160856		0.468	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	183	0.00	0	C	NM_052939		157648595	157648595	-1	no_errors	ENST00000368186	ensembl	human	known	69_37n	missense	258	11.34	33	SNP	0.000	G
FGF13	2258	genome.wustl.edu	37	X	137715089	137715089	+	Silent	SNP	G	G	A	rs375990260		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:137715089G>A	ENST00000315930.6	-	5	1321	c.660C>T	c.(658-660)agC>agT	p.S220S	FGF13_ENST00000541469.1_Silent_p.S174S|FGF13_ENST00000305414.4_Silent_p.S167S|FGF13_ENST00000370603.3_Silent_p.S230S|FGF13_ENST00000441825.2_Silent_p.S201S	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	220					cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGGGGTCCCGCTTCCAGATC	0.527																																						dbGAP											0													163.0	127.0	139.0					X																	137715089		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.660C>T	X.37:g.137715089G>A			B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd	p.S230	ENST00000315930.6	37	c.690	CCDS14665.1	X																																																																																			FGF13	-	NULL	ENSG00000129682		0.527	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF13	HGNC	protein_coding	OTTHUMT00000058534.2	149	0.00	0	G	NM_004114		137715089	137715089	-1	no_errors	ENST00000370603	ensembl	human	known	69_37n	silent	142	26.80	52	SNP	1.000	A
FHL3	2275	genome.wustl.edu	37	1	38463195	38463195	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:38463195C>T	ENST00000373016.3	-	6	893	c.725G>A	c.(724-726)cGa>cAa	p.R242Q	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	242	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTGCCAGTGTCGGTCTTCAAA	0.607																																						dbGAP											0													108.0	112.0	110.0					1																	38463195		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.725G>A	1.37:g.38463195C>T	ENSP00000362107:p.Arg242Gln		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R242Q	ENST00000373016.3	37	c.725	CCDS30678.1	1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495727	0.85069	.	.	ENSG00000183386	ENST00000373016	D	0.87412	-2.25	4.75	4.75	0.60458	Zinc finger, LIM-type (5);	0.061993	0.64402	N	0.000004	D	0.91061	0.7187	L	0.58925	1.835	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.89597	0.3832	10	0.32370	T	0.25	.	13.2272	0.59921	0.0:0.9198:0.0:0.0802	.	242	Q13643	FHL3_HUMAN	Q	242	ENSP00000362107:R242Q	ENSP00000362107:R242Q	R	-	2	0	FHL3	38235782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.795000	0.69074	2.183000	0.69458	0.467000	0.42956	CGA	FHL3	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000183386		0.607	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL3	HGNC	protein_coding	OTTHUMT00000012958.1	72	0.00	0	C	NM_004468		38463195	38463195	-1	no_errors	ENST00000373016	ensembl	human	known	69_37n	missense	75	18.48	17	SNP	0.997	T
FHOD3	80206	genome.wustl.edu	37	18	34320688	34320688	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr18:34320688G>T	ENST00000359247.4	+	17	3070	c.3070G>T	c.(3070-3072)Gaa>Taa	p.E1024*	FHOD3_ENST00000590592.1_Nonsense_Mutation_p.E1216*|FHOD3_ENST00000592128.1_Nonsense_Mutation_p.E20*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.E1003*|FHOD3_ENST00000257209.4_Nonsense_Mutation_p.E1041*|FHOD3_ENST00000591635.1_Nonsense_Mutation_p.E237*	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1024	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGCCAACCCTGAAATCCCCCT	0.483																																						dbGAP											0													80.0	72.0	75.0					18																	34320688		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3070G>T	18.37:g.34320688G>T	ENSP00000352186:p.Glu1024*		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Nonsense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E1041*	ENST00000359247.4	37	c.3121		18	.	.	.	.	.	.	.	.	.	.	G	41	9.045903	0.99048	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	.	.	.	6.04	6.04	0.98038	.	0.189086	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.1729	0.93588	0.0:0.0:1.0:0.0	.	.	.	.	X	1041;1024;1003	.	ENSP00000257209:E1041X	E	+	1	0	FHOD3	32574686	1.000000	0.71417	0.134000	0.22075	0.725000	0.41563	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GAA	FHOD3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000134775		0.483	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	85	0.00	0	G	XM_371114		34320688	34320688	+1	no_errors	ENST00000257209	ensembl	human	known	69_37n	nonsense	75	28.57	30	SNP	0.998	T
FLG2	388698	genome.wustl.edu	37	1	152326432	152326432	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:152326432T>C	ENST00000388718.5	-	3	3902	c.3830A>G	c.(3829-3831)gAc>gGc	p.D1277G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1277	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTTCACTGTCACTGTTCTC	0.463																																						dbGAP											0													404.0	365.0	378.0					1																	152326432		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3830A>G	1.37:g.152326432T>C	ENSP00000373370:p.Asp1277Gly		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.D1277G	ENST00000388718.5	37	c.3830	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.656533	0.29425	.	.	ENSG00000143520	ENST00000388718	T	0.40756	1.02	2.22	1.07	0.20283	.	.	.	.	.	T	0.17450	0.0419	L	0.45352	1.415	0.09310	N	1	P	0.44877	0.845	P	0.46389	0.515	T	0.08146	-1.0736	9	0.27082	T	0.32	-14.6327	4.0066	0.09603	0.0:0.185:0.0:0.815	.	1277	Q5D862	FILA2_HUMAN	G	1277	ENSP00000373370:D1277G	ENSP00000373370:D1277G	D	-	2	0	FLG2	150593056	0.000000	0.05858	0.104000	0.21259	0.379000	0.30106	0.401000	0.20948	0.296000	0.22592	0.165000	0.16767	GAC	FLG2	-	prints_Filaggrin	ENSG00000143520		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	481	0.00	0	T	NM_001014342		152326432	152326432	-1	no_errors	ENST00000388718	ensembl	human	known	69_37n	missense	467	13.04	70	SNP	0.130	C
TAPT1-AS1	202020	genome.wustl.edu	37	4	16258161	16258161	+	RNA	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:16258161G>T	ENST00000570786.1	+	0	516				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		CCACGAACTCGCCGGCGTTGT	0.607																																						dbGAP											0																																										-	-	-			0					4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16258161G>T				RNA	SNP	-	NULL	ENST00000570786.1	37	NULL		4																																																																																			RP11-783N5.1	-	-	ENSG00000263327		0.607	TAPT1-AS1-002	KNOWN	basic	antisense	FLJ39653	Clone_based_vega_gene	antisense	OTTHUMT00000439459.1	12	0.00	0	G	NR_027696		16258161	16258161	+1	no_errors	ENST00000570786	ensembl	human	known	69_37n	rna	14	41.67	10	SNP	0.016	T
FLNA	2316	genome.wustl.edu	37	X	153592631	153592631	+	Missense_Mutation	SNP	A	A	G	rs267606817		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:153592631A>G	ENST00000369850.3	-	14	2368	c.2132T>C	c.(2131-2133)gTc>gCc	p.V711A	FLNA_ENST00000360319.4_Missense_Mutation_p.V711A|FLNA_ENST00000344736.4_Missense_Mutation_p.V711A|FLNA_ENST00000422373.1_Missense_Mutation_p.V711A	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	711			V -> D (in CVDX). {ECO:0000269|PubMed:17190868}.		actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTACCTGGACTTGGACCCG	0.642																																						dbGAP											0			GRCh37	CM070132	FLNA	M							107.0	111.0	110.0					X																	153592631		2091	4189	6280	-	-	-	SO:0001583	missense	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2132T>C	X.37:g.153592631A>G	ENSP00000358866:p.Val711Ala		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.V711A	ENST00000369850.3	37	c.2132	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	A	3.138	-0.177023	0.06380	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.95	4.95	0.65309	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.287586	0.26590	N	0.023530	T	0.57577	0.2063	N	0.20807	0.61	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.13407	0.002;0.009	T	0.51301	-0.8723	10	0.02654	T	1	.	8.7608	0.34674	0.9017:0.0:0.0983:0.0	.	711;711	P21333-2;P21333	.;FLNA_HUMAN	A	711;684;711;711;711	ENSP00000353467:V711A;ENSP00000416926:V711A;ENSP00000358866:V711A;ENSP00000358863:V711A	ENSP00000358863:V711A	V	-	2	0	FLNA	153245825	0.975000	0.34042	0.942000	0.38095	0.585000	0.36419	2.953000	0.49105	1.645000	0.50612	0.427000	0.28365	GTC	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	36	0.00	0	A			153592631	153592631	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	missense	55	12.70	8	SNP	0.931	G
FLRT2	23768	genome.wustl.edu	37	14	86089277	86089277	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:86089277T>C	ENST00000330753.4	+	2	2186	c.1419T>C	c.(1417-1419)ggT>ggC	p.G473G	FLRT2_ENST00000554746.1_Silent_p.G473G	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	473	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAGTCAGCGGTGAGAAGCAAC	0.517																																						dbGAP											0													140.0	120.0	127.0					14																	86089277		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1419T>C	14.37:g.86089277T>C			A0AV84|B7ZLP3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.G473	ENST00000330753.4	37	c.1419	CCDS9877.1	14																																																																																			FLRT2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185070		0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	76	0.00	0	T			86089277	86089277	+1	no_errors	ENST00000330753	ensembl	human	known	69_37n	silent	61	16.44	12	SNP	0.008	C
FMNL3	91010	genome.wustl.edu	37	12	50045842	50045842	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:50045842C>G	ENST00000293590.5	-	14	1710	c.1477G>C	c.(1477-1479)Gag>Cag	p.E493Q	FMNL3_ENST00000352151.5_Missense_Mutation_p.E442Q|FMNL3_ENST00000335154.5_Missense_Mutation_p.E493Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.E493Q			Q8IVF7	FMNL3_HUMAN	formin-like 3	493					actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCACTCAGCTCTGCAGGGCCT	0.637																																						dbGAP											0													23.0	29.0	27.0					12																	50045842		2084	4191	6275	-	-	-	SO:0001583	missense	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1477G>C	12.37:g.50045842C>G	ENSP00000293590:p.Glu493Gln		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E493Q	ENST00000293590.5	37	c.1477		12	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951440	0.53186	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.18	5.18	0.71444	.	0.463994	0.22012	N	0.065856	T	0.22322	0.0538	L	0.47716	1.5	0.30332	N	0.78656	P;P;P	0.41910	0.531;0.531;0.764	B;B;B	0.43155	0.101;0.101;0.41	T	0.05582	-1.0876	10	0.22706	T	0.39	.	12.8931	0.58082	0.1629:0.8371:0.0:0.0	.	442;493;493	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	Q	493;493;442;493	ENSP00000335655:E493Q;ENSP00000447479:E493Q;ENSP00000344311:E442Q;ENSP00000293590:E493Q	ENSP00000293590:E493Q	E	-	1	0	FMNL3	48332109	0.000000	0.05858	0.984000	0.44739	0.961000	0.63080	0.762000	0.26503	2.586000	0.87340	0.561000	0.74099	GAG	FMNL3	-	NULL	ENSG00000161791		0.637	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		33	0.00	0	C	NM_175736		50045842	50045842	-1	no_errors	ENST00000293590	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	0.986	G
FMO4	2329	genome.wustl.edu	37	1	171293346	171293346	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:171293346A>G	ENST00000367749.3	+	5	721	c.391A>G	c.(391-393)Aca>Gca	p.T131A	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	131					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTCACAGAGACAGAGGGCAA	0.463																																					Pancreas(24;816 862 7754 7993 32832)	dbGAP											0													463.0	434.0	444.0					1																	171293346		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.391A>G	1.37:g.171293346A>G	ENSP00000356723:p.Thr131Ala		Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3	p.T131A	ENST00000367749.3	37	c.391	CCDS1295.1	1	.	.	.	.	.	.	.	.	.	.	A	7.845	0.722806	0.15439	.	.	ENSG00000076258	ENST00000367749	T	0.56611	0.45	5.93	4.75	0.60458	.	0.376195	0.30177	N	0.010223	T	0.14874	0.0359	L	0.38649	1.16	0.27182	N	0.960642	B	0.22414	0.069	B	0.22152	0.038	T	0.20874	-1.0262	10	0.07990	T	0.79	-12.07	3.4404	0.07461	0.6488:0.1416:0.0737:0.1359	.	131	P31512	FMO4_HUMAN	A	131	ENSP00000356723:T131A	ENSP00000356723:T131A	T	+	1	0	FMO4	169559970	0.977000	0.34250	0.999000	0.59377	0.954000	0.61252	2.033000	0.41136	2.265000	0.75225	0.533000	0.62120	ACA	FMO4	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3	ENSG00000076258		0.463	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO4	HGNC	protein_coding	OTTHUMT00000086223.1	244	0.00	0	A	NM_002022		171293346	171293346	+1	no_errors	ENST00000367749	ensembl	human	known	69_37n	missense	299	14.81	52	SNP	0.965	G
FNDC3A	22862	genome.wustl.edu	37	13	49760124	49760124	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:49760124delA	ENST00000492622.2	+	15	1947	c.1642delA	c.(1642-1644)aaafs	p.K548fs	FNDC3A_ENST00000398316.3_Frame_Shift_Del_p.K492fs|FNDC3A_ENST00000541916.1_Frame_Shift_Del_p.K548fs	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	548	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTCAGAAGGTAAAAGTAATCC	0.348																																						dbGAP											0													86.0	84.0	84.0					13																	49760124		2203	4297	6500	-	-	-	SO:0001589	frameshift_variant	0			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1642delA	13.37:g.49760124delA	ENSP00000417257:p.Lys548fs		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S549fs	ENST00000492622.2	37	c.1642	CCDS41886.1	13																																																																																			FNDC3A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000102531		0.348	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	HGNC	protein_coding	OTTHUMT00000354845.2	68	0.00	0	A	NM_014923		49760124	49760124	+1	no_errors	ENST00000492622	ensembl	human	known	69_37n	frame_shift_del	78	15.79	15	DEL	1.000	-
FOXC1	2296	genome.wustl.edu	37	6	1611053	1611053	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:1611053A>G	ENST00000380874.2	+	1	373	c.373A>G	c.(373-375)Agc>Ggc	p.S125G		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	125					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CTGGCAGAACAGCATCCGCCA	0.612																																					Pancreas(133;719 1821 3197 26645 35015)	dbGAP											0													83.0	94.0	90.0					6																	1611053		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.373A>G	6.37:g.1611053A>G	ENSP00000370256:p.Ser125Gly		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S125G	ENST00000380874.2	37	c.373	CCDS4473.1	6	.	.	.	.	.	.	.	.	.	.	a	17.58	3.424432	0.62733	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.97553	-4.43	3.73	3.73	0.42828	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.98902	0.9628	H	0.99211	4.47	0.58432	D	0.999996	D	0.76494	0.999	D	0.85130	0.997	D	0.98528	1.0626	10	0.87932	D	0	.	8.4211	0.32700	0.825:0.0:0.0:0.175	.	125	Q12948	FOXC1_HUMAN	G	125	ENSP00000370256:S125G	ENSP00000370256:S125G	S	+	1	0	FOXC1	1556052	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.327000	0.52045	1.320000	0.45209	0.375000	0.23000	AGC	FOXC1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000054598		0.612	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC1	HGNC	protein_coding	OTTHUMT00000043450.1	66	0.00	0	A			1611053	1611053	+1	no_errors	ENST00000380874	ensembl	human	known	69_37n	missense	88	41.72	63	SNP	1.000	G
FRA10AC1	118924	genome.wustl.edu	37	10	95441330	95441330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:95441330delT	ENST00000359204.4	-	11	891	c.694delA	c.(694-696)agafs	p.R232fs	FRA10AC1_ENST00000394100.2_Frame_Shift_Del_p.R232fs|FRA10AC1_ENST00000371430.2_Frame_Shift_Del_p.R232fs|FRA10AC1_ENST00000536233.1_Frame_Shift_Del_p.R232fs	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	232	Lys-rich.					nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TTATCTTTTCTTTTTTTTGAC	0.284																																						dbGAP											0													97.0	86.0	89.0					10																	95441330		2202	4297	6499	-	-	-	SO:0001589	frameshift_variant	0			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.694delA	10.37:g.95441330delT	ENSP00000360488:p.Arg232fs		C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Frame_Shift_Del	DEL	pfam_Folate-sensitive_fs_Fra10Ac1	p.R232fs	ENST00000359204.4	37	c.694	CCDS7430.1	10																																																																																			FRA10AC1	-	NULL	ENSG00000148690		0.284	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	HGNC	protein_coding	OTTHUMT00000049439.1	280	0.36	1	T	NM_145246		95441330	95441330	-1	no_errors	ENST00000359204	ensembl	human	known	69_37n	frame_shift_del	165	17.41	35	DEL	0.942	-
FREM1	158326	genome.wustl.edu	37	9	14776166	14776166	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:14776166C>A	ENST00000380880.3	-	25	5261	c.4478G>T	c.(4477-4479)gGg>gTg	p.G1493V	FREM1_ENST00000380894.1_Missense_Mutation_p.G29V|FREM1_ENST00000380881.4_Missense_Mutation_p.G1494V|FREM1_ENST00000486223.1_5'Flank|FREM1_ENST00000422223.2_Missense_Mutation_p.G1493V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1493					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTCAAACACCCCGTGCTCGGT	0.547																																						dbGAP											0													54.0	60.0	58.0					9																	14776166		2027	4179	6206	-	-	-	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4478G>T	9.37:g.14776166C>A	ENSP00000370262:p.Gly1493Val		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.G1494V	ENST00000380880.3	37	c.4481	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679735	0.88542	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.76316	0.73;0.73;-1.01;0.73	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	D	0.88250	0.6386	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.953	D	0.83773	0.0221	10	0.22109	T	0.4	-19.7998	20.6013	0.99457	0.0:1.0:0.0:0.0	.	1493;29	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	V	1494;1493;29;1493	ENSP00000370263:G1494V;ENSP00000412940:G1493V;ENSP00000370278:G29V;ENSP00000370262:G1493V	ENSP00000370262:G1493V	G	-	2	0	FREM1	14766166	1.000000	0.71417	0.979000	0.43373	0.797000	0.45037	5.722000	0.68485	2.878000	0.98634	0.650000	0.86243	GGG	FREM1	-	NULL	ENSG00000164946		0.547	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	34	0.00	0	C	NM_144966		14776166	14776166	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	missense	53	19.40	13	SNP	1.000	A
FREM2	341640	genome.wustl.edu	37	13	39446912	39446912	+	Silent	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:39446912C>A	ENST00000280481.7	+	17	8233	c.8017C>A	c.(8017-8019)Cga>Aga	p.R2673R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2673					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTGACCCTTCGAGTCCCTCT	0.438																																						dbGAP											0													160.0	151.0	154.0					13																	39446912		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8017C>A	13.37:g.39446912C>A			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.R2673	ENST00000280481.7	37	c.8017	CCDS31960.1	13																																																																																			FREM2	-	NULL	ENSG00000150893		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	128	0.00	0	C	NM_207361		39446912	39446912	+1	no_errors	ENST00000280481	ensembl	human	known	69_37n	silent	84	32.00	40	SNP	0.999	A
FREM3	166752	genome.wustl.edu	37	4	144618311	144618311	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:144618311C>T	ENST00000329798.5	-	1	3517	c.3518G>A	c.(3517-3519)gGc>gAc	p.G1173D		NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	1173					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						GAAGTTGATGCCATCAGAGCA	0.433																																						dbGAP											0													120.0	107.0	111.0					4																	144618311		692	1591	2283	-	-	-	SO:0001583	missense	0			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.3518G>A	4.37:g.144618311C>T	ENSP00000332886:p.Gly1173Asp			Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.G1173D	ENST00000329798.5	37	c.3518	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589740	0.46214	.	.	ENSG00000183090	ENST00000329798	T	0.53640	0.61	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.72120	0.3421	M	0.90369	3.11	0.80722	D	1	.	.	.	.	.	.	T	0.80044	-0.1547	8	0.72032	D	0.01	-12.0335	15.5314	0.75964	0.0:1.0:0.0:0.0	.	.	.	.	D	1173	ENSP00000332886:G1173D	ENSP00000332886:G1173D	G	-	2	0	FREM3	144837761	1.000000	0.71417	0.994000	0.49952	0.200000	0.23975	6.981000	0.76166	2.172000	0.68678	0.655000	0.94253	GGC	FREM3	-	NULL	ENSG00000183090		0.433	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	104	0.00	0	C	XM_094074		144618311	144618311	-1	no_errors	ENST00000329798	ensembl	human	putative	69_37n	missense	68	19.05	16	SNP	1.000	T
FRMPD2	143162	genome.wustl.edu	37	10	49392635	49392635	+	Missense_Mutation	SNP	A	A	T	rs115775260		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:49392635A>T	ENST00000374201.3	-	20	2860	c.2558T>A	c.(2557-2559)aTa>aAa	p.I853K	FRMPD2_ENST00000305531.3_Missense_Mutation_p.I828K|FRMPD2_ENST00000407470.4_Missense_Mutation_p.I821K	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	853	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AATTAATTCTATGTTGTCAGG	0.423																																						dbGAP											0													98.0	95.0	96.0					10																	49392635		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2558T>A	10.37:g.49392635A>T	ENSP00000363317:p.Ile853Lys		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.I853K	ENST00000374201.3	37	c.2558	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	A	18.44	3.625568	0.66901	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.34072	1.38;1.38;1.38	5.17	5.17	0.71159	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.43144	0.1234	L	0.60455	1.87	0.45733	D	0.998636	D;P;D	0.53151	0.958;0.85;0.958	P;P;P	0.48704	0.587;0.582;0.587	T	0.41197	-0.9522	9	0.54805	T	0.06	.	12.757	0.57341	1.0:0.0:0.0:0.0	.	828;853;821	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	K	853;828;821	ENSP00000363317:I853K;ENSP00000307079:I828K;ENSP00000384339:I821K	ENSP00000307079:I828K	I	-	2	0	FRMPD2	49062641	1.000000	0.71417	0.042000	0.18584	0.677000	0.39632	7.486000	0.81215	1.956000	0.56807	0.533000	0.62120	ATA	FRMPD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000170324		0.423	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	118	0.00	0	A	NM_152428		49392635	49392635	-1	no_errors	ENST00000374201	ensembl	human	known	69_37n	missense	101	31.29	46	SNP	0.805	T
FTCD	10841	genome.wustl.edu	37	21	47565364	47565364	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr21:47565364C>T	ENST00000291670.5	-	10	1270	c.1227G>A	c.(1225-1227)gtG>gtA	p.V409V	FTCD_ENST00000397746.3_Silent_p.V409V|FTCD_ENST00000397748.1_Silent_p.V409V|FTCD_ENST00000397743.1_Silent_p.V409V|FTCD_ENST00000359679.2_Silent_p.V409V|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Silent_p.V409V	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	409	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CGTCGGCATCCACCAGCGTGG	0.697																																						dbGAP											0													14.0	14.0	14.0					21																	47565364		2131	4226	6357	-	-	-	SO:0001819	synonymous_variant	0			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1227G>A	21.37:g.47565364C>T			B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Silent	SNP	pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.V409	ENST00000291670.5	37	c.1227	CCDS13731.1	21																																																																																			FTCD	-	pfam_Cyclodeamin/CycHdrlase,superfamily_Cyclodeamin/CycHdrlase	ENSG00000160282		0.697	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	HGNC	protein_coding	OTTHUMT00000206962.1	8	0.00	0	C	NM_006657		47565364	47565364	-1	no_errors	ENST00000359679	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	1.000	T
FURIN	5045	genome.wustl.edu	37	15	91420405	91420406	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:91420405_91420406insC	ENST00000268171.3	+	6	821_822	c.542_543insC	c.(541-546)gaccccfs	p.DP181fs		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	181	Peptidase S8.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAGGACCCTGACCCCCAGCCTC	0.54																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.547dupC	15.37:g.91420410_91420410dupC	ENSP00000268171:p.Asp181fs		Q14336|Q6LBS3|Q9UCZ5	Frame_Shift_Ins	INS	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.Q183fs	ENST00000268171.3	37	c.542_543	CCDS10364.1	15																																																																																			FURIN	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53	ENSG00000140564		0.540	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FURIN	HGNC	protein_coding	OTTHUMT00000313492.1	92	0.00	0	-	NM_002569		91420405	91420406	+1	no_errors	ENST00000268171	ensembl	human	known	69_37n	frame_shift_ins	50	18.03	11	INS	1.000:1.000	C
GAGE12J	729396	genome.wustl.edu	37	X	49179681	49179681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:49179681G>A	ENST00000442437.2	+	2	105	c.9G>A	c.(7-9)tgG>tgA	p.W3*		NM_001098406.1	NP_001091876.1	A6NER3	GG12J_HUMAN	G antigen 12J	3										kidney(2)|large_intestine(2)|lung(1)|prostate(1)	6	Ovarian(276;0.236)					ATATGAGTTGGCGAGGAAGAT	0.463																																						dbGAP											0													200.0	134.0	158.0					X																	49179681		1468	2540	4008	-	-	-	SO:0001587	stop_gained	0				CCDS43939.1	Xp11.23	2008-02-05	2007-07-23	2007-07-23	ENSG00000224659	ENSG00000224659			17778	protein-coding gene	gene with protein product		300733	"""G antigen 11"""	GAGE11			Standard	NM_001098406		Approved	OTTHUMG00000024137		A6NER3	OTTHUMG00000024137	ENST00000442437.2:c.9G>A	X.37:g.49179681G>A	ENSP00000409832:p.Trp3*			Nonsense_Mutation	SNP	pfam_GAGE	p.W3*	ENST00000442437.2	37	c.9	CCDS43939.1	X	.	.	.	.	.	.	.	.	.	.	.	13.25	2.182529	0.38511	.	.	ENSG00000224659	ENST00000442437	.	.	.	0.955	0.0125	0.14092	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.2436	0.06789	0.3258:0.0:0.6742:0.0	.	.	.	.	X	3	.	ENSP00000409832:W3X	W	+	3	0	GAGE12J	49066625	0.002000	0.14202	0.003000	0.11579	0.124000	0.20399	-0.001000	0.12947	-0.052000	0.13311	0.181000	0.17075	TGG	GAGE12J	-	pfam_GAGE	ENSG00000224659		0.463	GAGE12J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAGE12J	HGNC	protein_coding	OTTHUMT00000060817.1	515	0.00	0	G	NM_001098406		49179681	49179681	+1	no_errors	ENST00000442437	ensembl	human	known	69_37n	nonsense	608	10.46	71	SNP	0.003	A
GALNTL6	442117	genome.wustl.edu	37	4	173961139	173961141	+	In_Frame_Del	DEL	AGA	AGA	-	rs369616934		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:173961139_173961141delAGA	ENST00000506823.1	+	13	2351_2353	c.1694_1696delAGA	c.(1693-1698)gagaag>gag	p.K567del	GALNTL6_ENST00000508122.1_In_Frame_Del_p.K550del	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	567	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.K567delK(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AACCCCGCAGAGAAGAAGATTTT	0.424																																						dbGAP											1	Deletion - In frame(1)	lung(1)																																								-	-	-	SO:0001651	inframe_deletion	0				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1694_1696delAGA	4.37:g.173961145_173961147delAGA	ENSP00000423313:p.Lys567del		Q2L4S6	In_Frame_Del	DEL	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.K567in_frame_del	ENST00000506823.1	37	c.1694_1696	CCDS34104.1	4																																																																																			GALNTL6	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000174473		0.424	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	146	0.00	0	AGA	NM_001034845		173961139	173961141	+1	no_errors	ENST00000506823	ensembl	human	known	69_37n	in_frame_del	87	23.01	26	DEL	1.000:1.000:1.000	-
GBP3	2635	genome.wustl.edu	37	1	89479814	89479814	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:89479814G>T	ENST00000370481.4	-	5	797	c.577C>A	c.(577-579)Ccc>Acc	p.P193T	GBP3_ENST00000475853.2_5'Flank	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	233	GB1/RHD3-type G.		F -> C (in dbSNP:rs17850683). {ECO:0000269|PubMed:15489334}.		axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GGTGTGAGGGGTTGTCCATCT	0.443																																						dbGAP											0													171.0	164.0	166.0					1																	89479814		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.577C>A	1.37:g.89479814G>T	ENSP00000359512:p.Pro193Thr		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.P193T	ENST00000370481.4	37	c.577	CCDS717.2	1	.	.	.	.	.	.	.	.	.	.	G	4.926	0.172053	0.09391	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T	0.57907	0.37	3.98	-7.97	0.01139	Guanylate-binding protein, N-terminal (1);	1.189340	0.05889	N	0.627926	T	0.20007	0.0481	M	0.75447	2.3	0.09310	N	1	B;B	0.19073	0.033;0.008	B;B	0.20767	0.031;0.022	T	0.04427	-1.0952	10	0.40728	T	0.16	.	1.1355	0.01754	0.3031:0.0937:0.2051:0.398	.	59;193	F6X827;Q9H0R5	.;GBP3_HUMAN	T	193	ENSP00000359512:P193T	ENSP00000235878:P193T	P	-	1	0	GBP3	89252402	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.462000	0.00997	-3.076000	0.00252	-1.106000	0.02097	CCC	GBP3	-	pfam_Guanylate-bd_N	ENSG00000117226		0.443	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP3	HGNC	protein_coding	OTTHUMT00000313541.3	157	0.00	0	G	NM_018284		89479814	89479814	-1	no_errors	ENST00000370481	ensembl	human	known	69_37n	missense	95	15.79	18	SNP	0.000	T
GDAP1	54332	genome.wustl.edu	37	8	75275185	75275185	+	Silent	SNP	T	T	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:75275185T>G	ENST00000220822.7	+	5	671	c.591T>G	c.(589-591)ctT>ctG	p.L197L	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Silent_p.L129L	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	197	GST C-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CAAAGCTGCTTGATCATGACA	0.318																																						dbGAP											0													107.0	114.0	112.0					8																	75275185		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.591T>G	8.37:g.75275185T>G			A8K957|E7FJF3|E7FJF4	Silent	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.L197	ENST00000220822.7	37	c.591	CCDS34911.1	8																																																																																			GDAP1	-	NULL	ENSG00000104381		0.318	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP1	HGNC	protein_coding	OTTHUMT00000379061.1	150	0.00	0	T	NM_018972		75275185	75275185	+1	no_errors	ENST00000220822	ensembl	human	known	69_37n	silent	224	21.13	60	SNP	0.994	G
GEMIN5	25929	genome.wustl.edu	37	5	154308089	154308089	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:154308089A>C	ENST00000285873.7	-	6	987	c.912T>G	c.(910-912)ttT>ttG	p.F304L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	304					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGACTTACCCAAAACAGCTAG	0.438																																						dbGAP											0													120.0	114.0	116.0					5																	154308089		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.912T>G	5.37:g.154308089A>C	ENSP00000285873:p.Phe304Leu		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.F304L	ENST00000285873.7	37	c.912	CCDS4330.1	5	.	.	.	.	.	.	.	.	.	.	a	14.40	2.524846	0.44969	.	.	ENSG00000082516	ENST00000285873	T	0.43688	0.94	5.25	-0.145	0.13436	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.255887	0.39083	N	0.001461	T	0.23171	0.0560	N	0.21373	0.66	0.48901	D	0.999723	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.07888	-1.0749	10	0.20046	T	0.44	-15.476	8.7775	0.34771	0.6213:0.3134:0.0652:0.0	.	303;304	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	L	304	ENSP00000285873:F304L	ENSP00000285873:F304L	F	-	3	2	GEMIN5	154288282	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	1.738000	0.38207	-0.251000	0.09542	-0.263000	0.10527	TTT	GEMIN5	-	pfscan_WD40_repeat_dom	ENSG00000082516		0.438	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	100	0.00	0	A			154308089	154308089	-1	no_errors	ENST00000285873	ensembl	human	known	69_37n	missense	63	16.88	13	SNP	1.000	C
GGA1	26088	genome.wustl.edu	37	22	38017668	38017668	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:38017668G>A	ENST00000343632.4	+	7	960	c.574G>A	c.(574-576)Gca>Aca	p.A192T	GGA1_ENST00000325180.8_Missense_Mutation_p.A192T|GGA1_ENST00000381756.5_Missense_Mutation_p.A209T|GGA1_ENST00000337437.4_Missense_Mutation_p.A159T|GGA1_ENST00000406772.1_Missense_Mutation_p.A119T	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	192	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.|Interaction with ARF3.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGACCTCCGCGCAGCCAATAA	0.632																																						dbGAP											0													27.0	23.0	25.0					22																	38017668		2161	4234	6395	-	-	-	SO:0001583	missense	0			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.574G>A	22.37:g.38017668G>A	ENSP00000341344:p.Ala192Thr		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.A192T	ENST00000343632.4	37	c.574	CCDS13951.1	22	.	.	.	.	.	.	.	.	.	.	G	34	5.305848	0.95629	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000449944;ENST00000406772	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	4.86	4.86	0.63082	GAT (1);	0.213578	0.49305	D	0.000159	T	0.59595	0.2205	L	0.59436	1.845	0.80722	D	1	D;D;P	0.76494	0.999;0.983;0.647	D;P;B	0.67231	0.95;0.594;0.166	T	0.53301	-0.8458	10	0.28530	T	0.3	-16.5966	18.5314	0.90993	0.0:0.0:1.0:0.0	.	209;192;192	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	T	192;209;192;159;184;119	ENSP00000341344:A192T;ENSP00000371175:A209T;ENSP00000321288:A192T;ENSP00000338647:A159T;ENSP00000390416:A184T;ENSP00000385287:A119T	ENSP00000321288:A192T	A	+	1	0	GGA1	36347614	1.000000	0.71417	0.488000	0.27440	0.937000	0.57800	9.430000	0.97488	2.670000	0.90874	0.655000	0.94253	GCA	GGA1	-	pfscan_GAT	ENSG00000100083		0.632	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	HGNC	protein_coding	OTTHUMT00000075873.3	57	0.00	0	G	NM_013365		38017668	38017668	+1	no_errors	ENST00000343632	ensembl	human	known	69_37n	missense	50	15.25	9	SNP	1.000	A
GGA1	26088	genome.wustl.edu	37	22	38028008	38028008	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:38028008A>G	ENST00000343632.4	+	15	1920	c.1534A>G	c.(1534-1536)Atc>Gtc	p.I512V	GGA1_ENST00000325180.8_Missense_Mutation_p.I425V|GGA1_ENST00000381756.5_Missense_Mutation_p.I529V|GGA1_ENST00000337437.4_Missense_Mutation_p.I479V|GGA1_ENST00000406772.1_Missense_Mutation_p.I439V	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	512	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CACAGGCAACATCCTGCCCGT	0.667																																						dbGAP											0													97.0	68.0	78.0					22																	38028008		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1534A>G	22.37:g.38028008A>G	ENSP00000341344:p.Ile512Val		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.I512V	ENST00000343632.4	37	c.1534	CCDS13951.1	22	.	.	.	.	.	.	.	.	.	.	A	10.19	1.282593	0.23392	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000406772	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.78	4.78	0.61160	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (1);	0.281625	0.37669	N	0.001992	T	0.14830	0.0358	N	0.05230	-0.09	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.09907	-1.0653	10	0.19590	T	0.45	-17.7043	11.5889	0.50935	0.8513:0.1487:0.0:0.0	.	529;425;512	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	V	512;529;425;479;439	ENSP00000341344:I512V;ENSP00000371175:I529V;ENSP00000321288:I425V;ENSP00000338647:I479V;ENSP00000385287:I439V	ENSP00000321288:I425V	I	+	1	0	GGA1	36357954	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	1.319000	0.33655	1.800000	0.52685	0.459000	0.35465	ATC	GGA1	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app	ENSG00000100083		0.667	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	HGNC	protein_coding	OTTHUMT00000075873.3	59	0.00	0	A	NM_013365		38028008	38028008	+1	no_errors	ENST00000343632	ensembl	human	known	69_37n	missense	44	39.19	29	SNP	1.000	G
GLI3	2737	genome.wustl.edu	37	7	42007203	42007203	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:42007203T>G	ENST00000395925.3	-	14	2506	c.2422A>C	c.(2422-2424)Ata>Cta	p.I808L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	808			I -> M (in GCPS; dbSNP:rs62622373). {ECO:0000269|PubMed:10441342}.		anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCATTTCCTATGAGAGGAGAG	0.443									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													dbGAP											0													199.0	216.0	211.0					7																	42007203		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2422A>C	7.37:g.42007203T>G	ENSP00000379258:p.Ile808Leu		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I808L	ENST00000395925.3	37	c.2422	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	T	10.02	1.236751	0.22711	.	.	ENSG00000106571	ENST00000395925	D	0.91792	-2.91	5.31	4.12	0.48240	.	0.203242	0.52532	N	0.000066	D	0.85750	0.5769	L	0.36672	1.1	0.80722	D	1	B	0.32051	0.354	B	0.25987	0.065	T	0.80464	-0.1371	10	0.27082	T	0.32	.	11.3199	0.49415	0.1364:0.0:0.0:0.8636	.	808	P10071	GLI3_HUMAN	L	808	ENSP00000379258:I808L	ENSP00000379258:I808L	I	-	1	0	GLI3	41973728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.116000	0.50399	0.815000	0.34398	0.533000	0.62120	ATA	GLI3	-	NULL	ENSG00000106571		0.443	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	195	0.00	0	T	NM_000168		42007203	42007203	-1	no_errors	ENST00000395925	ensembl	human	known	69_37n	missense	92	23.33	28	SNP	1.000	G
GNA11	2767	genome.wustl.edu	37	19	3113468	3113468	+	Silent	SNP	C	C	A	rs200449144		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:3113468C>A	ENST00000078429.4	+	3	704	c.462C>A	c.(460-462)tcC>tcA	p.S154S		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	154					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		ACCAGCTCTCCGACTCTGCCA	0.672			Mis		uveal melanoma																																	dbGAP		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	0													62.0	54.0	57.0					19																	3113468		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.462C>A	19.37:g.3113468C>A			O15109|Q14350|Q6IB00	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.P3Q	ENST00000078429.4	37	c.8	CCDS12103.1	19																																																																																			GNA11	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su	ENSG00000088256		0.672	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA11	HGNC	protein_coding	OTTHUMT00000452261.2	23	0.00	0	C	NM_002067		3113468	3113468	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000587636	ensembl	human	putative	69_37n	missense	21	25.00	7	SNP	0.317	A
GNE	10020	genome.wustl.edu	37	9	36236868	36236868	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:36236868T>G	ENST00000539815.1	-	3	770	c.730A>C	c.(730-732)Aac>Cac	p.N244H	GNE_ENST00000447283.2_Missense_Mutation_p.N244H|GNE_ENST00000377902.5_Missense_Mutation_p.N244H|GNE_ENST00000543356.2_Missense_Mutation_p.N239H|GNE_ENST00000396594.3_Missense_Mutation_p.N275H|GNE_ENST00000539208.1_Intron			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	244					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			GTCCGCTTGTTAAATGAGATA	0.348																																					GBM(184;106 2118 20004 35750 50727)	dbGAP											0													124.0	117.0	120.0					9																	36236868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.730A>C	9.37:g.36236868T>G	ENSP00000439155:p.Asn244His		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.N275H	ENST00000539815.1	37	c.823	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221778	0.79464	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000486079;ENST00000543356;ENST00000447283	D;D;D;D	0.99121	-5.45;-5.45;-5.45;-5.45	6.06	4.92	0.64577	.	0.038447	0.85682	D	0.000000	D	0.98563	0.9520	L	0.59436	1.845	0.58432	D	0.999997	D;D;D;P	0.61697	0.982;0.989;0.99;0.739	P;P;P;B	0.58454	0.839;0.769;0.69;0.438	D	0.98223	1.0479	10	0.54805	T	0.06	-18.5192	10.1593	0.42842	0.0:0.078:0.0:0.922	.	203;275;244;244	Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;GLCNE_HUMAN;.	H	244;275;239;244;13;216;244	ENSP00000367134:N244H;ENSP00000379839:N275H;ENSP00000439155:N244H;ENSP00000414760:N244H	ENSP00000340770:N239H	N	-	1	0	GNE	36226868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.284000	0.78650	1.121000	0.41925	0.533000	0.62120	AAC	GNE	-	pfam_UDP_GlcNAc_Epimerase_2,tigrfam_UDP-GlcNAc_Epase	ENSG00000159921		0.348	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4	171	0.00	0	T	NM_005476		36236868	36236868	-1	no_errors	ENST00000396594	ensembl	human	known	69_37n	missense	123	16.33	24	SNP	1.000	G
GOLGA1	2800	genome.wustl.edu	37	9	127661657	127661658	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:127661657_127661658GC>AA	ENST00000373555.4	-	14	1594_1595	c.1261_1262GC>TT	c.(1261-1263)GCc>TTc	p.A421F	AL354928.1_ENST00000580940.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	421	Gln-rich.				protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TCTCTCCAGGGCCACTATCTGG	0.649																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1261_1262delinsAA	9.37:g.127661657_127661658delinsAA	ENSP00000362656:p.Ala421Phe		Q5T164|Q8IYZ9	Missense_Mutation	SNP	pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP	p.A421V|p.A421S	ENST00000373555.4	37	c.1262|c.1261	CCDS6860.1	9																																																																																			GOLGA1	-	NULL	ENSG00000136935		0.649	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA1	HGNC	protein_coding	OTTHUMT00000054049.1	67	0.00	0	G|C	NM_002077		127661657|127661658	127661657|127661658	-1	no_errors	ENST00000373555	ensembl	human	known	69_37n	missense	33|31	21.43|21.95	9	SNP	0.035|0.011	A
GOPC	57120	genome.wustl.edu	37	6	117900219	117900219	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:117900219C>G	ENST00000368498.2	-	2	369	c.294G>C	c.(292-294)ttG>ttC	p.L98F	GOPC_ENST00000535237.1_Missense_Mutation_p.L98F|GOPC_ENST00000052569.6_Missense_Mutation_p.L98F	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	98					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TCAGATCCACCAACTGTGCCT	0.348			O	ROS1	glioblastoma																																	dbGAP		Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	0													80.0	76.0	77.0					6																	117900219		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.294G>C	6.37:g.117900219C>G	ENSP00000357484:p.Leu98Phe		A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L98F	ENST00000368498.2	37	c.294	CCDS5117.1	6	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638705	0.67130	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	D;D;T	0.85258	-1.96;-1.96;2.14	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.87869	0.6286	M	0.68952	2.095	0.44092	D	0.99685	D;D	0.76494	0.999;0.998	D;D	0.71414	0.973;0.94	D	0.89460	0.3736	10	0.87932	D	0	-15.7431	10.954	0.47347	0.0:0.8036:0.0:0.1964	.	98;98	Q9HD26-2;Q9HD26	.;GOPC_HUMAN	F	98	ENSP00000052569:L98F;ENSP00000357484:L98F;ENSP00000445690:L98F	ENSP00000052569:L98F	L	-	3	2	GOPC	118006912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.193000	0.32162	1.401000	0.46761	0.585000	0.79938	TTG	GOPC	-	NULL	ENSG00000047932		0.348	GOPC-002	KNOWN	basic|CCDS	protein_coding	GOPC	HGNC	protein_coding	OTTHUMT00000041988.1	88	0.00	0	C	NM_020399		117900219	117900219	-1	no_errors	ENST00000368498	ensembl	human	known	69_37n	missense	90	10.00	10	SNP	1.000	G
GPC2	221914	genome.wustl.edu	37	7	99769785	99769785	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:99769785C>T	ENST00000292377.2	-	6	1115	c.948G>A	c.(946-948)acG>acA	p.T316T	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	316					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGACTCGGCCGTCAGCTCAA	0.547																																						dbGAP											0													73.0	67.0	69.0					7																	99769785		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.948G>A	7.37:g.99769785C>T			A4D2A7	Silent	SNP	pfam_Glypican	p.T316	ENST00000292377.2	37	c.948	CCDS5689.1	7																																																																																			GPC2	-	pfam_Glypican	ENSG00000213420		0.547	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC2	HGNC	protein_coding	OTTHUMT00000337556.1	55	0.00	0	C	NM_152742		99769785	99769785	-1	no_errors	ENST00000292377	ensembl	human	known	69_37n	silent	49	16.95	10	SNP	0.227	T
GPR112	139378	genome.wustl.edu	37	X	135405373	135405373	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:135405373C>T	ENST00000394143.1	+	5	798	c.507C>T	c.(505-507)agC>agT	p.S169S	GPR112_ENST00000287534.4_Silent_p.S106S|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Silent_p.S169S|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	169					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATGAGAGCAGCGAGGTTAAAA	0.448																																						dbGAP											0													175.0	153.0	160.0					X																	135405373		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.507C>T	X.37:g.135405373C>T			A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S169	ENST00000394143.1	37	c.507	CCDS35409.1	X																																																																																			GPR112	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin	ENSG00000156920		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	143	0.00	0	C			135405373	135405373	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	silent	153	12.99	23	SNP	0.005	T
GPR125	166647	genome.wustl.edu	37	4	22394213	22394213	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:22394213C>T	ENST00000334304.5	-	17	2851	c.2582G>A	c.(2581-2583)tGc>tAc	p.C861Y	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	861					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGGATCCTGGCATCTTTTAGC	0.393																																						dbGAP											0													283.0	255.0	264.0					4																	22394213		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2582G>A	4.37:g.22394213C>T	ENSP00000334952:p.Cys861Tyr		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.C861Y	ENST00000334304.5	37	c.2582	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.405078	0.01155	.	.	ENSG00000152990	ENST00000334304	T	0.50548	0.74	5.31	4.47	0.54385	GPCR, family 2-like (1);	0.142980	0.64402	D	0.000003	T	0.29620	0.0739	N	0.19112	0.55	0.80722	D	1	B;B	0.12013	0.005;0.002	B;B	0.18263	0.021;0.009	T	0.12734	-1.0536	10	0.02654	T	1	-0.8023	14.2168	0.65797	0.0:0.9278:0.0:0.0722	.	718;861	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	Y	861	ENSP00000334952:C861Y	ENSP00000334952:C861Y	C	-	2	0	GPR125	22003311	1.000000	0.71417	0.959000	0.39883	0.168000	0.22595	4.393000	0.59665	1.388000	0.46506	0.655000	0.94253	TGC	GPR125	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000152990		0.393	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	353	0.28	1	C			22394213	22394213	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	missense	289	21.89	81	SNP	1.000	T
GPR183	1880	genome.wustl.edu	37	13	99947890	99947891	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A|G	A|G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:99947890_99947891AG>TA	ENST00000376414.4	-	2	592_593	c.509_510CT>TA	c.(508-510)cCT>cTA	p.P170L	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	170					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GCTTTGACATAGGGTTGATGAG	0.421																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.509_510delinsTA	13.37:g.99947890_99947891delinsTA	ENSP00000365596:p.Pro170Leu		B2R8N5|Q53F99|Q5JUH7	Silent|Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.P170|p.P170L	ENST00000376414.4	37	c.510|c.509	CCDS9492.1	13																																																																																			GPR183	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000169508		0.421	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR183	HGNC	protein_coding	OTTHUMT00000045582.2	110|109	0.00	0	A|G	NM_004951		99947890|99947891	99947890|99947891	-1	no_errors	ENST00000376414	ensembl	human	known	69_37n	silent|missense	111|114	37.29|35.96	66|64	SNP	0.015|0.040	T|A
GPR98	84059	genome.wustl.edu	37	5	89939710	89939710	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:89939710delA	ENST00000405460.2	+	14	2740	c.2644delA	c.(2644-2646)aaafs	p.K882fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	882	Calx-beta 7. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACGATTCTGAAAAATGATGA	0.388																																						dbGAP											0													103.0	99.0	100.0					5																	89939710		1903	4119	6022	-	-	-	SO:0001589	frameshift_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2644delA	5.37:g.89939710delA	ENSP00000384582:p.Lys882fs		O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Del	DEL	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.N883fs	ENST00000405460.2	37	c.2644	CCDS47246.1	5																																																																																			GPR98	-	smart_Calx_beta	ENSG00000164199		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	146	0.00	0	A	NM_032119		89939710	89939710	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	frame_shift_del	96	21.60	27	DEL	0.898	-
GRAMD4	23151	genome.wustl.edu	37	22	47061530	47061530	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:47061530T>C	ENST00000406902.1	+	9	949	c.736T>C	c.(736-738)Tgg>Cgg	p.W246R	GRAMD4_ENST00000361034.3_Missense_Mutation_p.W246R			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	246					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GAATGCCGTGTGGCATGGCTG	0.567																																						dbGAP											0													188.0	138.0	155.0					22																	47061530		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.736T>C	22.37:g.47061530T>C	ENSP00000385689:p.Trp246Arg		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.W246R	ENST00000406902.1	37	c.736	CCDS33672.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	17.84|17.84	3.488113|3.488113	0.64074|0.64074	.|.	.|.	ENSG00000075240|ENSG00000075240	ENST00000456069|ENST00000406902;ENST00000361034	T|T;T	0.38560|0.44482	1.13|0.92;0.92	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.48840|0.48840	0.1522|0.1522	N|N	0.25647|0.25647	0.755|0.755	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.71674	.|0.998;0.985	.|D;P	.|0.80764	.|0.994;0.8	T|T	0.46569|0.46569	-0.9182|-0.9182	7|10	0.37606|0.42905	T|T	0.19|0.14	-23.508|-23.508	12.0926|12.0926	0.53736|0.53736	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|68;246	.|B0QZ08;Q6IC98	.|.;GRAM4_HUMAN	A|R	68|246	ENSP00000397501:V68A|ENSP00000385689:W246R;ENSP00000354313:W246R	ENSP00000397501:V68A|ENSP00000354313:W246R	V|W	+|+	2|1	0|0	GRAMD4|GRAMD4	45440194|45440194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.274000|7.274000	0.78538|0.78538	1.814000|1.814000	0.52955|0.52955	0.392000|0.392000	0.25879|0.25879	GTG|TGG	GRAMD4	-	NULL	ENSG00000075240		0.567	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	99	0.00	0	T	NM_015124		47061530	47061530	+1	no_errors	ENST00000361034	ensembl	human	known	69_37n	missense	110	15.91	21	SNP	1.000	C
GRB14	2888	genome.wustl.edu	37	2	165365340	165365340	+	Frame_Shift_Del	DEL	A	A	-	rs568671902		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:165365340delA	ENST00000263915.3	-	7	1377	c.839delT	c.(838-840)ttcfs	p.F280fs	GRB14_ENST00000543549.1_Frame_Shift_Del_p.F193fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	280	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						AAATTCGCTGAAAAACTGCAA	0.328																																						dbGAP											0													101.0	102.0	102.0					2																	165365340		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.839delT	2.37:g.165365340delA	ENSP00000263915:p.Phe280fs		B7Z7F9|Q7Z6I1	Frame_Shift_Del	DEL	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.F280fs	ENST00000263915.3	37	c.839	CCDS2222.1	2																																																																																			GRB14	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000115290		0.328	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2	140	0.00	0	A			165365340	165365340	-1	no_errors	ENST00000263915	ensembl	human	known	69_37n	frame_shift_del	108	13.60	17	DEL	1.000	-
GREB1	9687	genome.wustl.edu	37	2	11767230	11767230	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:11767230G>A	ENST00000381486.2	+	25	4749	c.4449G>A	c.(4447-4449)caG>caA	p.Q1483Q	GREB1_ENST00000234142.5_Splice_Site_p.Q1483Q|GREB1_ENST00000396123.1_Splice_Site_p.Q481Q	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1483						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCGCTACCAGGTAGGCCCCA	0.567																																					Ovarian(39;850 945 2785 23371 33093)	dbGAP											0													49.0	56.0	53.0					2																	11767230		2097	4209	6306	-	-	-	SO:0001630	splice_region_variant	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4449+1G>A	2.37:g.11767230G>A			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	NULL	p.Q1483	ENST00000381486.2	37	c.4449	CCDS42655.1	2																																																																																			GREB1	-	NULL	ENSG00000196208		0.567	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	32	0.00	0	G	NM_014668	Silent	11767230	11767230	+1	no_errors	ENST00000234142	ensembl	human	known	69_37n	silent	59	14.49	10	SNP	1.000	A
GRHPR	9380	genome.wustl.edu	37	9	37429703	37429703	+	Intron	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:37429703C>G	ENST00000318158.6	+	6	578				GRHPR_ENST00000607784.1_Intron	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase						cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GGACTGGGAACGAGACATGGA	0.602																																						dbGAP											0													88.0	83.0	84.0					9																	37429703		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.494-26C>G	9.37:g.37429703C>G			Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd	p.N13K	ENST00000318158.6	37	c.39	CCDS6609.1	9	.	.	.	.	.	.	.	.	.	.	C	7.509	0.654326	0.14580	.	.	ENSG00000137106	ENST00000438860	.	.	.	4.31	0.345	0.16011	.	.	.	.	.	T	0.28001	0.0690	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.26643	-1.0097	7	0.66056	D	0.02	.	4.3212	0.11018	0.1627:0.5586:0.0:0.2787	.	13	Q9H636	.	K	13	.	ENSP00000395217:N13K	N	+	3	2	GRHPR	37419703	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.027000	0.13621	0.201000	0.20466	0.650000	0.86243	AAC	GRHPR	-	NULL	ENSG00000137106		0.602	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHPR	HGNC	protein_coding	OTTHUMT00000052442.1	39	0.00	0	C	NM_012203		37429703	37429703	+1	no_errors	ENST00000494290	ensembl	human	known	69_37n	missense	61	14.08	10	SNP	0.000	G
GRIN2B	2904	genome.wustl.edu	37	12	13717034	13717034	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:13717034G>A	ENST00000609686.1	-	13	3347	c.3138C>T	c.(3136-3138)agC>agT	p.S1046S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1046					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTAGCGGTCGCTCTTGAAGG	0.587																																						dbGAP											0													65.0	54.0	58.0					12																	13717034		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3138C>T	12.37:g.13717034G>A			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S1046	ENST00000609686.1	37	c.3138	CCDS8662.1	12																																																																																			GRIN2B	-	pfam_NMDAR2_C	ENSG00000150086		0.587	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	59	0.00	0	G			13717034	13717034	-1	no_errors	ENST00000279593	ensembl	human	known	69_37n	silent	35	23.91	11	SNP	0.886	A
GRIN3A	116443	genome.wustl.edu	37	9	104433265	104433265	+	Missense_Mutation	SNP	T	T	G	rs80097802		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:104433265T>G	ENST00000361820.3	-	3	2029	c.1429A>C	c.(1429-1431)Atg>Ctg	p.M477L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	477					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CGGGTCCACATTGGCTTTCCC	0.507																																						dbGAP											0													156.0	159.0	158.0					9																	104433265		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1429A>C	9.37:g.104433265T>G	ENSP00000355155:p.Met477Leu		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.M477L	ENST00000361820.3	37	c.1429	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471506	0.63737	.	.	ENSG00000198785	ENST00000361820	D	0.84730	-1.89	5.76	5.76	0.90799	.	0.049609	0.85682	D	0.000000	T	0.81384	0.4811	L	0.50919	1.6	0.49915	D	0.99983	B	0.23442	0.085	B	0.20384	0.029	T	0.76495	-0.2938	10	0.18710	T	0.47	.	16.3634	0.83296	0.0:0.0:0.0:1.0	.	477	Q8TCU5	NMD3A_HUMAN	L	477	ENSP00000355155:M477L	ENSP00000355155:M477L	M	-	1	0	GRIN3A	103473086	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.173000	0.71937	2.324000	0.78689	0.533000	0.62120	ATG	GRIN3A	-	NULL	ENSG00000198785		0.507	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	98	0.00	0	T			104433265	104433265	-1	no_errors	ENST00000361820	ensembl	human	known	69_37n	missense	67	33.66	34	SNP	0.998	G
GSDMA	284110	genome.wustl.edu	37	17	38122539	38122539	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:38122539T>C	ENST00000301659.4	+	3	359	c.241T>C	c.(241-243)Ttt>Ctt	p.F81L		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	81					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GAATTTTGGCTTTAAGAATAT	0.532																																						dbGAP											0													84.0	83.0	84.0					17																	38122539		1931	4139	6070	-	-	-	SO:0001583	missense	0			AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.241T>C	17.37:g.38122539T>C	ENSP00000301659:p.Phe81Leu		Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	pfam_Gasdermin	p.F81L	ENST00000301659.4	37	c.241	CCDS45669.1	17	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321573	0.41096	.	.	ENSG00000167914	ENST00000301659	T	0.25414	1.8	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000006	T	0.39172	0.1068	M	0.81341	2.54	0.34098	D	0.661547	P	0.48503	0.911	P	0.49752	0.621	T	0.56086	-0.8037	10	0.27082	T	0.32	-10.0541	11.5466	0.50696	0.0:0.0:0.0:1.0	.	81	Q96QA5	GSDMA_HUMAN	L	81	ENSP00000301659:F81L	ENSP00000301659:F81L	F	+	1	0	GSDMA	35376065	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	3.567000	0.53813	2.041000	0.60428	0.460000	0.39030	TTT	GSDMA	-	pfam_Gasdermin	ENSG00000167914		0.532	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMA	HGNC	protein_coding	OTTHUMT00000446847.1	68	0.00	0	T	NM_178171		38122539	38122539	+1	no_errors	ENST00000301659	ensembl	human	known	69_37n	missense	68	18.07	15	SNP	1.000	C
GRN	2896	genome.wustl.edu	37	17	42429495	42429495	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:42429495C>T	ENST00000053867.3	+	11	1354	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V	GRN_ENST00000589265.1_Missense_Mutation_p.A274V	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	431					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGATGCCTGCCCGCCGGGCT	0.667																																						dbGAP											0													70.0	70.0	70.0					17																	42429495		2203	4300	6503	-	-	-	SO:0001583	missense	0			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1292C>T	17.37:g.42429495C>T	ENSP00000053867:p.Ala431Val		D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	pfam_Granulin,smart_Granulin	p.A431V	ENST00000053867.3	37	c.1292	CCDS11483.1	17	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699967	0.68501	.	.	ENSG00000030582	ENST00000053867;ENST00000393566	T	0.70986	-0.53	5.12	3.06	0.35304	.	0.285136	0.28736	N	0.014315	T	0.58395	0.2119	L	0.38531	1.155	0.51012	D	0.999908	B;B	0.26445	0.149;0.043	B;B	0.29440	0.102;0.037	T	0.52563	-0.8559	10	0.26408	T	0.33	-2.6506	10.3172	0.43745	0.0:0.8293:0.0:0.1707	.	368;431	B4DJI2;P28799	.;GRN_HUMAN	V	431;251	ENSP00000053867:A431V	ENSP00000053867:A431V	A	+	2	0	GRN	39785021	0.153000	0.22777	0.271000	0.24616	0.247000	0.25773	2.429000	0.44758	1.119000	0.41883	0.561000	0.74099	GCC	GRN	-	NULL	ENSG00000030582		0.667	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	34	0.00	0	C	NM_002087		42429495	42429495	+1	no_errors	ENST00000053867	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	0.986	T
GSR	2936	genome.wustl.edu	37	8	30539473	30539473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:30539473delG	ENST00000221130.5	-	11	1349	c.1259delC	c.(1258-1260)cctfs	p.P420fs	GSR_ENST00000414019.1_Frame_Shift_Del_p.P377fs|GSR_ENST00000541648.1_Frame_Shift_Del_p.P367fs|GSR_ENST00000546342.1_Frame_Shift_Del_p.P391fs|GSR_ENST00000537535.1_Frame_Shift_Del_p.P338fs	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	420					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	TGTCCCAATAGGGGGGTGGCT	0.438																																						dbGAP											0													87.0	93.0	91.0					8																	30539473		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1259delC	8.37:g.30539473delG	ENSP00000221130:p.Pro420fs		C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Frame_Shift_Del	DEL	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac	p.P420fs	ENST00000221130.5	37	c.1259	CCDS34877.1	8																																																																																			GSR	-	pfam_Pyr_nucl-diS_OxRdtase_dimer,superfamily_FAD/NAD-linked_Rdtase_dimer,tigrfam_Glutathione_Rdtase_euk/bac	ENSG00000104687		0.438	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSR	HGNC	protein_coding	OTTHUMT00000376519.1	134	0.00	0	G			30539473	30539473	-1	no_errors	ENST00000221130	ensembl	human	known	69_37n	frame_shift_del	89	19.09	21	DEL	1.000	-
SMARCA5	8467	genome.wustl.edu	37	4	144481154	144481154	+	IGR	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:144481154C>T	ENST00000283131.3	+	0	7923				GUSBP5_ENST00000510805.1_RNA	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CTATCACCATCGGCAACATGC	0.622																																						dbGAP											0													78.0	75.0	76.0					4																	144481154		692	1591	2283	-	-	-	SO:0001628	intergenic_variant	0			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474		4.37:g.144481154C>T				RNA	SNP	-	NULL	ENST00000283131.3	37	NULL	CCDS3761.1	4																																																																																			GUSBP5	-	-	ENSG00000236296		0.622	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSBP5	HGNC	protein_coding	OTTHUMT00000365077.3	54	0.00	0	C			144481154	144481154	+1	no_errors	ENST00000509369	ensembl	human	known	69_37n	rna	27	34.15	14	SNP	0.993	T
HACE1	57531	genome.wustl.edu	37	6	105239507	105239507	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:105239507G>C	ENST00000262903.4	-	11	1222	c.946C>G	c.(946-948)Caa>Gaa	p.Q316E	HACE1_ENST00000369125.2_Missense_Mutation_p.Q316E	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	316					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTCTTCATTTGAGCATCATAA	0.313																																						dbGAP											0													90.0	91.0	91.0					6																	105239507		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.946C>G	6.37:g.105239507G>C	ENSP00000262903:p.Gln316Glu		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt	p.Q316E	ENST00000262903.4	37	c.946	CCDS5050.1	6	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979653	0.53827	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.37752	1.21;1.18	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	N	0.17082	0.46	0.80722	D	1	P;P	0.40332	0.713;0.713	P;P	0.51806	0.68;0.68	T	0.02625	-1.1132	10	0.07813	T	0.8	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	316;316	E9PGP0;Q8IYU2	.;HACE1_HUMAN	E	316	ENSP00000262903:Q316E;ENSP00000358121:Q316E	ENSP00000262903:Q316E	Q	-	1	0	HACE1	105346200	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.447000	0.97595	2.764000	0.94973	0.650000	0.86243	CAA	HACE1	-	NULL	ENSG00000085382		0.313	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HACE1	HGNC	protein_coding	OTTHUMT00000041643.2	74	0.00	0	G	XM_045095		105239507	105239507	-1	no_errors	ENST00000262903	ensembl	human	known	69_37n	missense	34	67.31	70	SNP	1.000	C
HAL	3034	genome.wustl.edu	37	12	96368029	96368029	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:96368029G>A	ENST00000261208.3	-	21	2323	c.1955C>T	c.(1954-1956)cCg>cTg	p.P652L	HAL_ENST00000541929.1_Missense_Mutation_p.P444L|HAL_ENST00000538703.1_3'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	652					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CTCAGACTCCGGGATTTTGGT	0.428																																					NSCLC(169;943 2815 23563 30031)	dbGAP											0													151.0	149.0	150.0					12																	96368029		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1955C>T	12.37:g.96368029G>A	ENSP00000261208:p.Pro652Leu		B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	p.P652L	ENST00000261208.3	37	c.1955	CCDS9058.1	12	.	.	.	.	.	.	.	.	.	.	G	10.40	1.341041	0.24339	.	.	ENSG00000084110	ENST00000261208;ENST00000541929	T;T	0.77358	-1.09;-0.11	5.41	4.51	0.55191	.	0.404702	0.25774	N	0.028394	T	0.60856	0.2301	N	0.22421	0.69	0.39645	D	0.970385	B	0.09022	0.002	B	0.04013	0.001	T	0.55988	-0.8053	10	0.19147	T	0.46	-2.0743	8.8629	0.35269	0.1703:0.0:0.8296:0.0	.	652	P42357	HUTH_HUMAN	L	652;444	ENSP00000261208:P652L;ENSP00000446364:P444L	ENSP00000261208:P652L	P	-	2	0	HAL	94892160	0.993000	0.37304	0.982000	0.44146	0.018000	0.09664	2.665000	0.46791	2.523000	0.85059	0.655000	0.94253	CCG	HAL	-	NULL	ENSG00000084110		0.428	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAL	HGNC	protein_coding	OTTHUMT00000408644.1	191	0.00	0	G			96368029	96368029	-1	no_errors	ENST00000261208	ensembl	human	known	69_37n	missense	184	14.02	30	SNP	0.809	A
HCAR2	338442	genome.wustl.edu	37	12	123187533	123187533	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:123187533delA	ENST00000328880.5	-	1	357	c.298delT	c.(298-300)tgcfs	p.C100fs	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	100					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	ATCAGCCGGCAAGGGATGTCC	0.557																																						dbGAP											0													95.0	82.0	86.0					12																	123187533		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.298delT	12.37:g.123187533delA	ENSP00000375066:p.Cys100fs		A0PJL5|A7LGG3	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.C100fs	ENST00000328880.5	37	c.298	CCDS9235.1	12																																																																																			HCAR2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_P2_purnocptor	ENSG00000182782		0.557	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	95	0.00	0	A	NM_177551		123187533	123187533	-1	no_errors	ENST00000328880	ensembl	human	known	69_37n	frame_shift_del	83	16.00	16	DEL	0.992	-
HDAC4	9759	genome.wustl.edu	37	2	239975187	239975187	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:239975187G>A	ENST00000345617.3	-	26	3975	c.3184C>T	c.(3184-3186)Ctg>Ttg	p.L1062L	HDAC4_ENST00000543185.1_Silent_p.L646L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1062	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCCACGGACAGCGAGGCCATG	0.657																																						dbGAP											0													46.0	54.0	52.0					2																	239975187		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.3184C>T	2.37:g.239975187G>A			Q9UND6	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.L1062	ENST00000345617.3	37	c.3184	CCDS2529.1	2																																																																																			HDAC4	-	pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.657	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	29	0.00	0	G	NM_006037		239975187	239975187	-1	no_errors	ENST00000345617	ensembl	human	known	69_37n	silent	26	13.33	4	SNP	0.997	A
HDGF	3068	genome.wustl.edu	37	1	156713979	156713979	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:156713979C>T	ENST00000357325.5	-	4	779	c.465G>A	c.(463-465)aaG>aaA	p.K155K	HDGF_ENST00000416666.2_Silent_p.K123K|HDGF_ENST00000537739.1_Silent_p.K155K|HDGF_ENST00000368209.5_Silent_p.K148K|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Silent_p.K171K	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	155	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTGCTCTCCTCTTCAACGCTC	0.597																																						dbGAP											0													300.0	250.0	267.0					1																	156713979		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.465G>A	1.37:g.156713979C>T			B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Silent	SNP	pfam_PWWP	p.K171	ENST00000357325.5	37	c.513	CCDS1156.1	1																																																																																			HDGF	-	NULL	ENSG00000143321		0.597	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGF	HGNC	protein_coding	OTTHUMT00000098946.1	180	0.00	0	C	NM_004494		156713979	156713979	-1	no_errors	ENST00000368206	ensembl	human	known	69_37n	silent	215	10.79	26	SNP	1.000	T
HELLS	3070	genome.wustl.edu	37	10	96352051	96352051	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:96352051delA	ENST00000348459.5	+	16	1938	c.1833delA	c.(1831-1833)ctafs	p.L611fs	HELLS_ENST00000394036.1_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Frame_Shift_Del_p.L657fs|HELLS_ENST00000394045.1_Frame_Shift_Del_p.L513fs	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TGCCAGAACTAAAAAAAAGAG	0.313																																						dbGAP											0													54.0	60.0	58.0					10																	96352051		2202	4298	6500	-	-	-	SO:0001589	frameshift_variant	0			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1833delA	10.37:g.96352051delA	ENSP00000239027:p.Leu611fs			Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R660fs	ENST00000348459.5	37	c.1971	CCDS7434.1	10																																																																																			HELLS	-	pfscan_Helicase_C	ENSG00000119969		0.313	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELLS	HGNC	protein_coding	OTTHUMT00000049475.1	105	0.00	0	A	NM_018063		96352051	96352051	+1	no_errors	ENST00000371332	ensembl	human	known	69_37n	frame_shift_del	55	28.57	22	DEL	0.958	-
HERC1	8925	genome.wustl.edu	37	15	64039169	64039169	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:64039169C>T	ENST00000443617.2	-	12	2555	c.2468G>A	c.(2467-2469)cGa>cAa	p.R823Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	823					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAGCAAATTTCGAAGTGGACC	0.478																																						dbGAP											0													49.0	46.0	47.0					15																	64039169		1916	4103	6019	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2468G>A	15.37:g.64039169C>T	ENSP00000390158:p.Arg823Gln		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.R823Q	ENST00000443617.2	37	c.2468	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.779959	0.96929	.	.	ENSG00000103657	ENST00000443617	T	0.26810	1.71	5.35	5.35	0.76521	.	0.000000	0.64402	U	0.000007	T	0.50633	0.1627	M	0.61703	1.905	0.58432	D	0.999999	D	0.76494	0.999	D	0.73708	0.981	T	0.51818	-0.8657	10	0.87932	D	0	.	19.0574	0.93070	0.0:1.0:0.0:0.0	.	823	Q15751	HERC1_HUMAN	Q	823	ENSP00000390158:R823Q	ENSP00000390158:R823Q	R	-	2	0	HERC1	61826222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.629000	0.83207	2.499000	0.84300	0.585000	0.79938	CGA	HERC1	-	NULL	ENSG00000103657		0.478	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	74	0.00	0	C	NM_003922		64039169	64039169	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	97	12.61	14	SNP	1.000	T
HGD	3081	genome.wustl.edu	37	3	120347339	120347339	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:120347339G>A	ENST00000283871.5	-	14	1685	c.1226C>T	c.(1225-1227)aCa>aTa	p.T409I		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	409					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TCCCCACTTTGTGACCGCCAG	0.468																																						dbGAP											0													119.0	115.0	117.0					3																	120347339		2203	4296	6499	-	-	-	SO:0001583	missense	0				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1226C>T	3.37:g.120347339G>A	ENSP00000283871:p.Thr409Ile		A8K417|B2R8Z0	Missense_Mutation	SNP	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase	p.T409I	ENST00000283871.5	37	c.1226	CCDS3000.1	3	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818212	0.71028	.	.	ENSG00000113924	ENST00000283871	D	0.99143	-5.48	5.11	5.11	0.69529	Cupin, RmlC-type (1);	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.96111	3.77	0.80722	D	1	D	0.64830	0.994	D	0.72075	0.976	D	0.98068	1.0397	10	0.87932	D	0	-6.076	17.7108	0.88321	0.0:0.0:1.0:0.0	.	409	Q93099	HGD_HUMAN	I	409	ENSP00000283871:T409I	ENSP00000283871:T409I	T	-	2	0	HGD	121830029	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	9.222000	0.95196	2.654000	0.90174	0.563000	0.77884	ACA	HGD	-	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase	ENSG00000113924		0.468	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGD	HGNC	protein_coding	OTTHUMT00000355410.1	147	0.00	0	G			120347339	120347339	-1	no_errors	ENST00000283871	ensembl	human	known	69_37n	missense	109	22.70	32	SNP	1.000	A
HHIPL1	84439	genome.wustl.edu	37	14	100138717	100138717	+	Silent	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:100138717C>A	ENST00000330710.5	+	8	1892	c.1794C>A	c.(1792-1794)atC>atA	p.I598I		NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	598					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCCGTCTCATCCCCTTTGTGC	0.587																																						dbGAP											0													71.0	75.0	74.0					14																	100138717		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1794C>A	14.37:g.100138717C>A			A2RUF8|B2RN09|Q6UXX2	Silent	SNP	pfam_Srcr_rcpt,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.I598	ENST00000330710.5	37	c.1794	CCDS45162.1	14																																																																																			HHIPL1	-	NULL	ENSG00000182218		0.587	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL1	HGNC	protein_coding	OTTHUMT00000413811.1	67	0.00	0	C	XM_041566		100138717	100138717	+1	no_errors	ENST00000330710	ensembl	human	known	69_37n	silent	67	16.25	13	SNP	0.887	A
HIRA	7290	genome.wustl.edu	37	22	19394707	19394707	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:19394707G>A	ENST00000263208.5	-	4	558	c.302C>T	c.(301-303)aCg>aTg	p.T101M	HIRA_ENST00000541063.1_Splice_Site_p.T57M|HIRA_ENST00000340170.4_Splice_Site_p.T101M|HIRA_ENST00000546308.1_Splice_Site_p.T57M|HIRA_ENST00000464189.1_5'UTR	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	101					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TGATGCTTACGTAGCCCGCTT	0.438																																						dbGAP											0													134.0	120.0	125.0					22																	19394707		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.302+1C>T	22.37:g.19394707G>A			Q05BU9|Q8IXN2	Missense_Mutation	SNP	pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T101M	ENST00000263208.5	37	c.302	CCDS13759.1	22	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900996	0.52227	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.70986	-0.47;-0.46;-0.53;-0.47	4.89	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.115769	0.64402	D	0.000020	T	0.66616	0.2807	M	0.64997	1.995	0.80722	D	1	D;P	0.57257	0.979;0.914	B;B	0.40782	0.34;0.273	T	0.70238	-0.4927	9	.	.	.	-12.0092	13.9333	0.64010	0.0:0.152:0.848:0.0	.	101;101	P54198-2;P54198	.;HIRA_HUMAN	M	101;101;57;57	ENSP00000345350:T101M;ENSP00000263208:T101M;ENSP00000446073:T57M;ENSP00000441870:T57M	.	T	-	2	0	HIRA	17774707	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.919000	0.70005	2.538000	0.85594	0.655000	0.94253	ACG	HIRA	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000100084		0.438	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	HGNC	protein_coding	OTTHUMT00000316488.2	124	0.00	0	G	NM_003325	Missense_Mutation	19394707	19394707	-1	no_errors	ENST00000263208	ensembl	human	known	69_37n	missense	68	24.44	22	SNP	1.000	A
HIST1H1C	3006	genome.wustl.edu	37	6	26056588	26056590	+	In_Frame_Del	DEL	CTT	CTT	-	rs146437590	byFrequency	TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:26056588_26056590delCTT	ENST00000343677.2	-	1	109_111	c.67_69delAAG	c.(67-69)aagdel	p.K23del		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	23					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTTTGGCCGCCTTCTTCTTTACA	0.606																																						dbGAP											0										0,4252		0,0,2126						2.8	0.9			39	1,8243		0,1,4121	no	coding	HIST1H1C	NM_005319.3		0,1,6247	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12495				-	-	-	SO:0001651	inframe_deletion	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.67_69delAAG	6.37:g.26056594_26056596delCTT	ENSP00000339566:p.Lys23del		A8K4I2	In_Frame_Del	DEL	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K23in_frame_del	ENST00000343677.2	37	c.69_67	CCDS4577.1	6																																																																																			HIST1H1C	-	prints_Histone_H5	ENSG00000187837		0.606	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	23	0.00	0	CTT	NM_005319		26056588	26056590	-1	no_errors	ENST00000343677	ensembl	human	known	69_37n	in_frame_del	30	14.29	5	DEL	1.000:1.000:1.000	-
HIST1H2BA	255626	genome.wustl.edu	37	6	25727450	25727450	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:25727450C>T	ENST00000274764.2	+	1	314	c.314C>T	c.(313-315)cCg>cTg	p.P105L	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	105					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)	2						TTGCTACTGCCGGGAGAGCTG	0.517																																						dbGAP											0													269.0	195.0	220.0					6																	25727450		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.314C>T	6.37:g.25727450C>T	ENSP00000274764:p.Pro105Leu		B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.P105L	ENST00000274764.2	37	c.314	CCDS4563.1	6	.	.	.	.	.	.	.	.	.	.	C	15.28	2.788064	0.49997	.	.	ENSG00000146047	ENST00000274764	T	0.60797	0.16	3.5	3.5	0.40072	Histone-fold (2);	0.000000	0.64402	D	0.000003	T	0.80093	0.4560	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85928	0.1450	10	0.62326	D	0.03	.	14.8494	0.70284	0.0:1.0:0.0:0.0	.	105	Q96A08	H2B1A_HUMAN	L	105	ENSP00000274764:P105L	ENSP00000274764:P105L	P	+	2	0	HIST1H2BA	25835429	1.000000	0.71417	0.020000	0.16555	0.004000	0.04260	7.535000	0.82014	2.265000	0.75225	0.644000	0.83932	CCG	HIST1H2BA	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000146047		0.517	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BA	HGNC	protein_coding	OTTHUMT00000040066.1	305	0.00	0	C	NM_170610		25727450	25727450	+1	no_errors	ENST00000274764	ensembl	human	known	69_37n	missense	434	11.25	55	SNP	1.000	T
HIST1H2AL	8332	genome.wustl.edu	37	6	27833136	27833136	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:27833136T>A	ENST00000357320.2	+	1	103	c.4T>A	c.(4-6)Tcg>Acg	p.S2T		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	2						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CTTCGTCATGTCGGGACGCGG	0.562																																						dbGAP											0													81.0	90.0	87.0					6																	27833136		2202	4300	6502	-	-	-	SO:0001583	missense	0			X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.4T>A	6.37:g.27833136T>A	ENSP00000349873:p.Ser2Thr		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.S2T	ENST00000357320.2	37	c.4	CCDS4634.1	6	.	.	.	.	.	.	.	.	.	.	.	9.465	1.094016	0.20471	.	.	ENSG00000198374	ENST00000357320	D	0.92595	-3.07	4.69	3.53	0.40419	.	0.000000	0.30565	U	0.009346	D	0.87485	0.6189	.	.	.	0.23435	N	0.997688	.	.	.	.	.	.	T	0.81607	-0.0856	7	0.62326	D	0.03	.	9.6211	0.39721	0.0:0.0833:0.0:0.9167	.	.	.	.	T	2	ENSP00000349873:S2T	ENSP00000349873:S2T	S	+	1	0	HIST1H2AL	27941115	1.000000	0.71417	0.721000	0.30653	0.030000	0.12068	2.672000	0.46850	0.770000	0.33336	0.533000	0.62120	TCG	HIST1H2AL	-	superfamily_Histone-fold	ENSG00000198374		0.562	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AL	HGNC	protein_coding	OTTHUMT00000040160.1	43	0.00	0	T	NM_003511		27833136	27833136	+1	no_errors	ENST00000357320	ensembl	human	known	69_37n	missense	62	28.74	25	SNP	0.999	A
HLA-C	3107	genome.wustl.edu	37	6	31237303	31237303	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:31237303C>A	ENST00000383329.3	-	6	1047	c.1033G>T	c.(1033-1035)Ggt>Tgt	p.G345C	HLA-C_ENST00000376228.5_Splice_Site			Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	345					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)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCTTTTCCACCTGTGGGAAGA	0.557																																						dbGAP											0													64.0	72.0	69.0					6																	31237303		2203	4300	6503	-	-	-	SO:0001583	missense	0			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000383329.3:c.1033G>T	6.37:g.31237303C>A	ENSP00000372819:p.Gly345Cys		O02864|O02958|Q29643|Q9MY30	Splice_Site	SNP	-	e6-1	ENST00000383329.3	37	c.1127-1		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|.	6.401|6.401	0.442191|0.442191	0.12164|0.12164	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000539307|ENST00000383329	.|T	.|0.15372	.|2.43	2.82|2.82	0.825|0.825	0.18824|0.18824	.|.	.|.	.|.	.|.	.|.	.|T	.|0.08358	.|0.0208	.|.	.|.	.|.	0.31195|0.31195	N|N	0.700464|0.700464	.|D	.|0.71674	.|0.998	.|D	.|0.67231	.|0.95	.|T	.|0.05533	.|-1.0879	.|8	.|0.08599	.|T	.|0.76	.|.	3.5986|3.5986	0.08016|0.08016	0.2625:0.594:0.0:0.1435|0.2625:0.594:0.0:0.1435	.|.	.|345	.|A2AEA2	.|.	.|C	-1|345	.|ENSP00000372819:G345C	.|ENSP00000372819:G345C	.|G	-|-	.|1	.|0	HLA-C|HLA-C	31345282|31345282	0.001000|0.001000	0.12720|0.12720	0.106000|0.106000	0.21319|0.21319	0.244000|0.244000	0.25665|0.25665	0.202000|0.202000	0.17295|0.17295	0.195000|0.195000	0.20347|0.20347	0.298000|0.298000	0.19748|0.19748	.|GGT	HLA-C	-	-	ENSG00000204525		0.557	HLA-C-002	KNOWN	basic	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000258079.1	189	0.00	0	C	NM_002117		31237303	31237303	-1	no_errors	ENST00000539307	ensembl	human	known	69_37n	splice_site	208	12.92	31	SNP	0.125	A
HNRNPA3	220988	genome.wustl.edu	37	2	178080589	178080589	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:178080589C>T	ENST00000392524.2	+	3	544	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	HNRNPA3_ENST00000411529.2_Missense_Mutation_p.R81C|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R103C			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	103	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GGTTGATGGGCGTGTAGTGGA	0.398																																						dbGAP											0													82.0	85.0	84.0					2																	178080589		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.307C>T	2.37:g.178080589C>T	ENSP00000376309:p.Arg103Cys		D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R103C	ENST00000392524.2	37	c.307	CCDS2273.1	2	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399325	0.62177	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	D;D;D	0.92699	-3.09;-3.09;-3.09	4.2	4.2	0.49525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.144445	0.32028	N	0.006690	D	0.93403	0.7896	M	0.91561	3.22	0.80722	D	1	B;B	0.33612	0.419;0.363	B;B	0.31686	0.134;0.044	D	0.94679	0.7863	10	0.87932	D	0	.	16.9473	0.86232	0.0:1.0:0.0:0.0	.	81;103	B4DDB6;P51991	.;ROA3_HUMAN	C	103;81;81;81;103	ENSP00000376309:R103C;ENSP00000408487:R81C;ENSP00000416340:R103C	ENSP00000376309:R103C	R	+	1	0	HNRNPA3	177788835	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	3.048000	0.49862	2.077000	0.62373	0.467000	0.42956	CGT	HNRNPA3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000170144		0.398	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPA3	HGNC	protein_coding	OTTHUMT00000255729.3	115	0.00	0	C	NM_194247		178080589	178080589	+1	no_errors	ENST00000392524	ensembl	human	known	69_37n	missense	84	20.00	21	SNP	1.000	T
HNRNPK	3190	genome.wustl.edu	37	9	86584278	86584278	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:86584278C>G	ENST00000376264.2	-	17	1637	c.1379G>C	c.(1378-1380)gGa>gCa	p.G460A	HNRNPK_ENST00000360384.5_Missense_Mutation_p.G460A|HNRNPK_ENST00000351839.3_Missense_Mutation_p.G460A|RP11-575L7.8_ENST00000448389.1_RNA|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000376281.4_3'UTR|HNRNPK_ENST00000376263.3_3'UTR	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	460					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GAAAAACTTTCCAGAATACTG	0.323																																						dbGAP											0													47.0	59.0	55.0					9																	86584278		2198	4285	6483	-	-	-	SO:0001583	missense	0				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.1379G>C	9.37:g.86584278C>G	ENSP00000365440:p.Gly460Ala		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1	p.G460A	ENST00000376264.2	37	c.1379	CCDS6667.1	9	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105868	0.56291	.	.	ENSG00000165119	ENST00000376264;ENST00000351839;ENST00000435158;ENST00000360384	T;T;T	0.53423	0.62;0.62;0.62	5.43	5.43	0.79202	.	.	.	.	.	T	0.60996	0.2312	L	0.45137	1.4	0.80722	D	1	D;P;D	0.76494	0.999;0.618;0.999	D;P;D	0.76071	0.981;0.812;0.987	T	0.51957	-0.8639	9	0.17832	T	0.49	.	19.2192	0.93790	0.0:1.0:0.0:0.0	.	436;425;460	B4DUQ1;Q5T6W5;P61978	.;.;HNRPK_HUMAN	A	460;460;425;460	ENSP00000365440:G460A;ENSP00000317788:G460A;ENSP00000353552:G460A	ENSP00000317788:G460A	G	-	2	0	HNRNPK	85774098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.214000	0.77958	2.561000	0.86390	0.591000	0.81541	GGA	HNRNPK	-	NULL	ENSG00000165119		0.323	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	HGNC	protein_coding	OTTHUMT00000052846.2	36	0.00	0	C			86584278	86584278	-1	no_errors	ENST00000351839	ensembl	human	known	69_37n	missense	24	38.46	15	SNP	1.000	G
HNRNPU	3192	genome.wustl.edu	37	1	245021466	245021466	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:245021466A>G	ENST00000283179.9	-	7	1504	c.1341T>C	c.(1339-1341)caT>caC	p.H447H	HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU_ENST00000444376.2_Silent_p.H428H			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	447	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GGCAGAGAACATGCGGGAACA	0.433																																					NSCLC(33;911 1010 3329 23631 49995)	dbGAP											0													79.0	72.0	74.0					1																	245021466		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1341T>C	1.37:g.245021466A>G			O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.H447	ENST00000283179.9	37	c.1341	CCDS41479.1	1																																																																																			HNRNPU	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000153187		0.433	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3	78	0.00	0	A	NM_031844		245021466	245021466	-1	no_errors	ENST00000283179	ensembl	human	known	69_37n	silent	77	11.49	10	SNP	1.000	G
HOXB13	10481	genome.wustl.edu	37	17	46805391	46805391	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:46805391T>C	ENST00000290295.7	-	1	1149	c.565A>G	c.(565-567)Aac>Gac	p.N189D	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	189					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CCTGGTGGGTTCTGTTCTCCC	0.567																																						dbGAP											0													84.0	77.0	79.0					17																	46805391		2203	4300	6503	-	-	-	SO:0001583	missense	0			U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.565A>G	17.37:g.46805391T>C	ENSP00000290295:p.Asn189Asp		B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	pfam_HoxA13_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.N189D	ENST00000290295.7	37	c.565	CCDS11536.1	17	.	.	.	.	.	.	.	.	.	.	T	13.13	2.143914	0.37825	.	.	ENSG00000159184	ENST00000290295	D	0.90900	-2.75	5.06	5.06	0.68205	.	0.241801	0.43416	D	0.000580	D	0.82930	0.5144	L	0.40543	1.245	0.35694	D	0.815119	P	0.39250	0.665	B	0.33042	0.157	D	0.85374	0.1115	10	0.51188	T	0.08	.	6.1639	0.20380	0.0:0.171:0.0:0.829	.	189	Q92826	HXB13_HUMAN	D	189	ENSP00000290295:N189D	ENSP00000290295:N189D	N	-	1	0	HOXB13	44160390	0.023000	0.18921	1.000000	0.80357	0.983000	0.72400	0.247000	0.18179	2.140000	0.66376	0.459000	0.35465	AAC	HOXB13	-	NULL	ENSG00000159184		0.567	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB13	HGNC	protein_coding	OTTHUMT00000358087.3	66	0.00	0	T	NM_006361		46805391	46805391	-1	no_errors	ENST00000290295	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	1.000	C
HSF5	124535	genome.wustl.edu	37	17	56540485	56540485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:56540485G>T	ENST00000323777.3	-	4	1309	c.1200C>A	c.(1198-1200)tgC>tgA	p.C400*		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	400					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGATGTTGGGCACTGATTCT	0.458																																						dbGAP											0													103.0	93.0	97.0					17																	56540485		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1200C>A	17.37:g.56540485G>T	ENSP00000313243:p.Cys400*		Q08EH7|Q8N7V2	Nonsense_Mutation	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd	p.C400*	ENST00000323777.3	37	c.1200	CCDS32690.1	17	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837064	0.91117	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	.	.	.	5.23	0.69	0.18039	.	0.401929	0.24962	N	0.034206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	2.4499	0.04516	0.1857:0.2135:0.4682:0.1325	.	.	.	.	X	300;400	.	ENSP00000313243:C400X	C	-	3	2	HSF5	53895484	0.862000	0.29867	1.000000	0.80357	0.946000	0.59487	-0.318000	0.08050	0.576000	0.29452	0.650000	0.86243	TGC	HSF5	-	NULL	ENSG00000176160		0.458	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF5	HGNC	protein_coding	OTTHUMT00000444719.1	73	0.00	0	G	XM_064190		56540485	56540485	-1	no_errors	ENST00000323777	ensembl	human	known	69_37n	nonsense	138	22.47	40	SNP	0.997	T
HSPG2	3339	genome.wustl.edu	37	1	22174272	22174272	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:22174272C>T	ENST00000374695.3	-	61	8014	c.7935G>A	c.(7933-7935)caG>caA	p.Q2645Q	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2645	Ig-like C2-type 12.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GATCCAAGGTCTGCCCTTCCA	0.637																																						dbGAP											0													53.0	53.0	53.0					1																	22174272		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7935G>A	1.37:g.22174272C>T			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.Q2645	ENST00000374695.3	37	c.7935	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000142798		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	40	0.00	0	C	NM_005529		22174272	22174272	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	silent	29	19.44	7	SNP	1.000	T
HTATSF1	27336	genome.wustl.edu	37	X	135592335	135592335	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:135592335G>C	ENST00000218364.4	+	8	1193	c.1019G>C	c.(1018-1020)cGt>cCt	p.R340P	HTATSF1_ENST00000535601.1_Missense_Mutation_p.R340P	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	340	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TTTGGTGGCCGTCAAATCACT	0.468																																						dbGAP											0													209.0	189.0	196.0					X																	135592335		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1019G>C	X.37:g.135592335G>C	ENSP00000218364:p.Arg340Pro		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R340P	ENST00000218364.4	37	c.1019	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588651	0.86851	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.08370	3.1;3.1	5.48	4.61	0.57282	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70443	-0.4870	10	0.87932	D	0	-2.1466	13.3746	0.60730	0.0778:0.0:0.9222:0.0	.	340	O43719	HTSF1_HUMAN	P	340	ENSP00000442699:R340P;ENSP00000218364:R340P	ENSP00000218364:R340P	R	+	2	0	HTATSF1	135420001	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.631000	0.83237	1.079000	0.41038	0.538000	0.68166	CGT	HTATSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000102241		0.468	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	86	0.00	0	G	NM_014500		135592335	135592335	+1	no_errors	ENST00000218364	ensembl	human	known	69_37n	missense	71	38.26	44	SNP	1.000	C
HTATSF1	27336	genome.wustl.edu	37	X	135593359	135593359	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:135593359T>C	ENST00000218364.4	+	9	1629	c.1455T>C	c.(1453-1455)tcT>tcC	p.S485S	HTATSF1_ENST00000535601.1_Silent_p.S485S	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	485	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AAAAAGAGTCTGAAGAAGGCA	0.453																																						dbGAP											0													47.0	50.0	49.0					X																	135593359		2193	4281	6474	-	-	-	SO:0001819	synonymous_variant	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1455T>C	X.37:g.135593359T>C			D3DWG9|Q59G06|Q99730	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S485	ENST00000218364.4	37	c.1455	CCDS14657.1	X																																																																																			HTATSF1	-	NULL	ENSG00000102241		0.453	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	46	0.00	0	T	NM_014500		135593359	135593359	+1	no_errors	ENST00000218364	ensembl	human	known	69_37n	silent	42	16.00	8	SNP	0.000	C
HTRA4	203100	genome.wustl.edu	37	8	38832596	38832596	+	Silent	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:38832596C>G	ENST00000302495.4	+	2	613	c.513C>G	c.(511-513)gcC>gcG	p.A171A	CTD-2544N14.3_ENST00000520863.1_RNA	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	171					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			ACTTCATCGCCGCGGTGGTGG	0.567																																						dbGAP											0													148.0	147.0	148.0					8																	38832596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.513C>G	8.37:g.38832596C>G			Q542Z4|Q6PF13	Silent	SNP	pfam_Peptidase_S1_S6,pfam_PDZ,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_Prot_inh_Kazal,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.A171	ENST00000302495.4	37	c.513	CCDS6110.1	8																																																																																			HTRA4	-	superfamily_Pept_cys/ser_Trypsin-like	ENSG00000169495		0.567	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA4	HGNC	protein_coding	OTTHUMT00000377077.1	78	0.00	0	C	NM_153692		38832596	38832596	+1	no_errors	ENST00000302495	ensembl	human	known	69_37n	silent	32	62.35	53	SNP	0.000	G
HUWE1	10075	genome.wustl.edu	37	X	53589824	53589824	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:53589824C>G	ENST00000342160.3	-	52	7629	c.7172G>C	c.(7171-7173)aGc>aCc	p.S2391T	HUWE1_ENST00000262854.6_Missense_Mutation_p.S2391T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2391	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGAAGCTTGGCTGAGGTTGGA	0.542																																						dbGAP											0													196.0	134.0	155.0					X																	53589824		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7172G>C	X.37:g.53589824C>G	ENSP00000340648:p.Ser2391Thr		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.S2391T	ENST00000342160.3	37	c.7172	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.865025|2.865025	0.51482|0.51482	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.37915	.|1.17;1.17	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.090436	.|0.85682	.|D	.|0.000000	T|T	0.47637|0.47637	0.1456|0.1456	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999997|0.999997	.|P;D	.|0.56035	.|0.924;0.974	.|P;D	.|0.70487	.|0.878;0.969	T|T	0.43343|0.43343	-0.9397|-0.9397	5|10	.|0.45353	.|T	.|0.12	.|.	17.7712|17.7712	0.88493|0.88493	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2391;2391	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	H|T	1424|2391	.|ENSP00000340648:S2391T;ENSP00000262854:S2391T	.|ENSP00000262854:S2391T	Q|S	-|-	3|2	2|0	HUWE1|HUWE1	53606549|53606549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.140000|7.140000	0.77322|0.77322	2.470000|2.470000	0.83445|0.83445	0.600000|0.600000	0.82982|0.82982	CAG|AGC	HUWE1	-	NULL	ENSG00000086758		0.542	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	136	0.00	0	C	XM_497119		53589824	53589824	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	124	17.88	27	SNP	1.000	G
HVCN1	84329	genome.wustl.edu	37	12	111089114	111089114	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:111089114A>T	ENST00000356742.5	-	5	1304	c.551T>A	c.(550-552)cTc>cAc	p.L184H	HVCN1_ENST00000439744.2_Missense_Mutation_p.L164H|HVCN1_ENST00000548312.1_Missense_Mutation_p.L184H|HVCN1_ENST00000242607.8_Missense_Mutation_p.L184H			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	184					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GACAATGTCGAGGATGAATGA	0.522																																						dbGAP											0													114.0	102.0	107.0					12																	111089114		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.551T>A	12.37:g.111089114A>T	ENSP00000349181:p.Leu184His		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L184H	ENST00000356742.5	37	c.551	CCDS31900.1	12	.	.	.	.	.	.	.	.	.	.	a	20.6	4.021796	0.75275	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	5.51	5.51	0.81932	Ion transport (1);	0.124359	0.53938	D	0.000047	D	0.99093	0.9688	M	0.90082	3.085	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.944	D	0.99560	1.0968	10	0.87932	D	0	-37.0711	15.6225	0.76816	1.0:0.0:0.0:0.0	.	184;184	Q96D96;Q96D96-3	HVCN1_HUMAN;.	H	184;184;184;164	ENSP00000449601:L184H;ENSP00000242607:L184H;ENSP00000349181:L184H;ENSP00000412052:L164H	ENSP00000242607:L184H	L	-	2	0	HVCN1	109573497	1.000000	0.71417	0.575000	0.28536	0.385000	0.30292	9.307000	0.96226	2.101000	0.63845	0.398000	0.26397	CTC	HVCN1	-	pfam_Ion_trans_dom	ENSG00000122986		0.522	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HVCN1	HGNC	protein_coding	OTTHUMT00000404653.1	87	0.00	0	A	NM_032369		111089114	111089114	-1	no_errors	ENST00000242607	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	0.988	T
IFIT1	3434	genome.wustl.edu	37	10	91162854	91162854	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:91162854delA	ENST00000371804.3	+	2	989	c.822delA	c.(820-822)ttafs	p.L274fs	IFIT1_ENST00000546318.1_Frame_Shift_Del_p.L243fs|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	274					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						TTGAGTTATTAAAAAAGGCCT	0.433																																						dbGAP											0													80.0	82.0	81.0					10																	91162854		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.822delA	10.37:g.91162854delA	ENSP00000360869:p.Leu274fs		B3KS50|D3DR31|Q5T7J1|Q96QM5	Frame_Shift_Del	DEL	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K276fs	ENST00000371804.3	37	c.822	CCDS31243.1	10																																																																																			IFIT1	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000185745		0.433	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1	HGNC	protein_coding	OTTHUMT00000049302.1	39	0.00	0	A	NM_001548		91162854	91162854	+1	no_errors	ENST00000371804	ensembl	human	known	69_37n	frame_shift_del	25	13.79	4	DEL	0.000	-
IFNAR2	3455	genome.wustl.edu	37	21	34617290	34617290	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr21:34617290A>G	ENST00000342136.4	+	4	458	c.132A>G	c.(130-132)tcA>tcG	p.S44S	IFNAR2_ENST00000382241.3_Silent_p.S44S|IFNAR2_ENST00000342101.3_Silent_p.S44S|IFNAR2_ENST00000420068.1_Intron|IFNAR2_ENST00000382264.3_Silent_p.S44S|IFNAR2_ENST00000413881.1_5'UTR|IFNAR2_ENST00000404220.3_Silent_p.S44S|AP000295.9_ENST00000433395.2_5'Flank			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	44					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	TCAAGATATCATTGCGAAATT	0.373																																						dbGAP											0													166.0	158.0	161.0					21																	34617290		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.132A>G	21.37:g.34617290A>G			A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Silent	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.S44	ENST00000342136.4	37	c.132	CCDS13621.1	21																																																																																			IFNAR2	-	superfamily_Fibronectin_type3	ENSG00000159110		0.373	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFNAR2	HGNC	protein_coding	OTTHUMT00000139825.1	186	0.00	0	A			34617290	34617290	+1	no_errors	ENST00000342136	ensembl	human	known	69_37n	silent	149	24.37	48	SNP	0.000	G
IFT140	9742	genome.wustl.edu	37	16	1621412	1621412	+	Silent	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:1621412G>T	ENST00000426508.2	-	14	2011	c.1648C>A	c.(1648-1650)Cga>Aga	p.R550R	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	550					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ATTTACCTTCGGGAAAGATCA	0.423																																						dbGAP											0													51.0	52.0	52.0					16																	1621412		2199	4300	6499	-	-	-	SO:0001819	synonymous_variant	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1648C>A	16.37:g.1621412G>T			A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R550	ENST00000426508.2	37	c.1648	CCDS10439.1	16																																																																																			IFT140	-	NULL	ENSG00000187535		0.423	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	65	0.00	0	G	NM_014714		1621412	1621412	-1	no_errors	ENST00000426508	ensembl	human	known	69_37n	silent	27	48.08	25	SNP	1.000	T
IFT172	26160	genome.wustl.edu	37	2	27688295	27688295	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:27688295T>C	ENST00000260570.3	-	18	2023	c.1920A>G	c.(1918-1920)caA>caG	p.Q640Q		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	640					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAATGTGTAGTTGCCTTGCCT	0.498																																						dbGAP											0													292.0	210.0	238.0					2																	27688295		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1920A>G	2.37:g.27688295T>C			A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.Q640	ENST00000260570.3	37	c.1920	CCDS1755.1	2																																																																																			IFT172	-	NULL	ENSG00000138002		0.498	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	228	0.00	0	T	NM_015662		27688295	27688295	-1	no_errors	ENST00000260570	ensembl	human	known	69_37n	silent	197	13.91	32	SNP	1.000	C
IGHV3-7	28452	genome.wustl.edu	37	14	106518647	106518647	+	RNA	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:106518647C>A	ENST00000390598.2	-	0	182									immunoglobulin heavy variable 3-7																		TCTCAGGGACCCCCCAGGCTG	0.592																																						dbGAP											0													116.0	113.0	114.0					14																	106518647		1835	4068	5903	-	-	-			0			M99649		14q32.33	2012-02-08			ENSG00000211938	ENSG00000211938		"""Immunoglobulins / IGH locus"""	5620	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152271		14.37:g.106518647C>A				Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G35V	ENST00000390598.2	37	c.104		14																																																																																			IGHV3-7	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211938		0.592	IGHV3-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-7	HGNC	IG_V_gene	OTTHUMT00000325659.1	188	0.00	0	C	NG_001019		106518647	106518647	-1	no_stop_codon	ENST00000390598	ensembl	human	known	69_37n	missense	227	12.31	32	SNP	0.961	A
IGKV1D-33	28896	genome.wustl.edu	37	2	89953096	89953096	+	RNA	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:89953096C>A	ENST00000390265.2	+	0	181									immunoglobulin kappa variable 1D-33																		CAGTCTCCATCCTCCCTGTCT	0.433																																						dbGAP											0													10.0	16.0	14.0					2																	89953096		1582	4005	5587	-	-	-			0			M64855		2p11.2	2012-02-08			ENSG00000239975	ENSG00000239975		"""Immunoglobulins / IGK locus"""	5753	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151602		2.37:g.89953096C>A				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S31Y	ENST00000390265.2	37	c.92		2																																																																																			IGKV1D-33	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000239975		0.433	IGKV1D-33-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1D-33	HGNC	IG_V_gene	OTTHUMT00000323274.1	50	0.00	0	C	NG_000833		89953096	89953096	+1	no_stop_codon	ENST00000390265	ensembl	human	known	69_37n	missense	48	12.73	7	SNP	0.000	A
IGLV7-43	28776	genome.wustl.edu	37	22	22749557	22749557	+	RNA	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:22749557C>A	ENST00000390298.2	+	0	115									immunoglobulin lambda variable 7-43																		CTCAGGAGCCCTCACTGACTG	0.507																																						dbGAP											0													64.0	63.0	63.0					22																	22749557		1937	4130	6067	-	-	-			0			X14614		22q11.2	2012-02-08			ENSG00000211652	ENSG00000211652		"""Immunoglobulins / IGL locus"""	5929	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151053		22.37:g.22749557C>A				Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.P27	ENST00000390298.2	37	c.81		22																																																																																			IGLV7-43	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000211652		0.507	IGLV7-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV7-43	HGNC	IG_V_gene	OTTHUMT00000321113.1	85	0.00	0	C	NG_000002		22749557	22749557	+1	no_stop_codon	ENST00000390298	ensembl	human	known	69_37n	silent	104	12.61	15	SNP	0.006	A
IGLV7-43	28776	genome.wustl.edu	37	22	22749779	22749779	+	RNA	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:22749779T>C	ENST00000390298.2	+	0	337									immunoglobulin lambda variable 7-43																		GTGTGCAGCCTGAGGACGAGG	0.542																																						dbGAP											0													74.0	71.0	72.0					22																	22749779		1975	4178	6153	-	-	-			0			X14614		22q11.2	2012-02-08			ENSG00000211652	ENSG00000211652		"""Immunoglobulins / IGL locus"""	5929	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151053		22.37:g.22749779T>C				Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.P101	ENST00000390298.2	37	c.303		22																																																																																			IGLV7-43	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211652		0.542	IGLV7-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV7-43	HGNC	IG_V_gene	OTTHUMT00000321113.1	42	0.00	0	T	NG_000002		22749779	22749779	+1	no_stop_codon	ENST00000390298	ensembl	human	known	69_37n	silent	44	16.98	9	SNP	0.999	C
IGLL5	100423062	genome.wustl.edu	37	22	23235986	23235986	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:23235986G>C	ENST00000526893.1	+	2	587	c.313G>C	c.(313-315)Gtc>Ctc	p.V105L	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000532223.2_Missense_Mutation_p.V106L|IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000531372.1_Intron	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	105	J region (By similarity to lambda light- chain).					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TGGGACCAAGGTCACCGTCCT	0.592																																						dbGAP											0													94.0	106.0	102.0					22																	23235986		2117	4244	6361	-	-	-	SO:0001583	missense	0			M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"""Immunoglobulin superfamily / C1-set domain containing"""	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.313G>C	22.37:g.23235986G>C	ENSP00000431254:p.Val105Leu			Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.V106L	ENST00000526893.1	37	c.316	CCDS54506.1	22	.	.	.	.	.	.	.	.	.	.	G	5.486	0.274665	0.10403	.	.	ENSG00000254709	ENST00000532223;ENST00000526893	T;T	0.00509	6.92;6.91	3.51	-3.93	0.04143	.	.	.	.	.	T	0.00178	0.0005	N	0.00595	-1.35	0.20563	N	0.999887	B	0.02656	0.0	B	0.04013	0.001	T	0.40289	-0.9571	9	0.02654	T	1	.	15.6717	0.77283	0.0:0.2569:0.7431:0.0	.	105	B9A064	IGLL5_HUMAN	L	106;105	ENSP00000436353:V106L;ENSP00000431254:V105L	ENSP00000417505:V39L	V	+	1	0	IGLL5	21565986	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.215000	0.01222	-0.722000	0.04922	-1.777000	0.00654	GTC	IGLL5	-	NULL	ENSG00000254709		0.592	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	IGLL5	HGNC	protein_coding	OTTHUMT00000385699.1	113	0.00	0	G	NM_001178126		23235986	23235986	+1	no_errors	ENST00000532223	ensembl	human	known	69_37n	missense	106	16.54	21	SNP	0.007	C
IGSF10	285313	genome.wustl.edu	37	3	151154686	151154686	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:151154686C>A	ENST00000282466.3	-	6	7662	c.7663G>T	c.(7663-7665)Gtt>Ttt	p.V2555F	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2555	Ig-like C2-type 12.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGCTTGGGAACTCCCAAGGCC	0.522																																						dbGAP											0													72.0	67.0	69.0					3																	151154686		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7663G>T	3.37:g.151154686C>A	ENSP00000282466:p.Val2555Phe		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V2555F	ENST00000282466.3	37	c.7663	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126535	0.56721	.	.	ENSG00000152580	ENST00000282466	T	0.68181	-0.31	5.24	-0.431	0.12295	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.909815	0.09097	N	0.849088	T	0.62913	0.2467	N	0.21240	0.645	0.30226	N	0.796393	D;P	0.57257	0.979;0.903	D;P	0.63033	0.91;0.512	T	0.57388	-0.7820	10	0.10111	T	0.7	.	9.5872	0.39524	0.0:0.4248:0.0:0.5752	.	2555;582	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	F	2555	ENSP00000282466:V2555F	ENSP00000282466:V2555F	V	-	1	0	IGSF10	152637376	0.929000	0.31497	0.914000	0.36105	0.987000	0.75469	1.620000	0.36976	0.033000	0.15463	0.655000	0.94253	GTT	IGSF10	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000152580		0.522	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	60	0.00	0	C	NM_178822		151154686	151154686	-1	no_errors	ENST00000282466	ensembl	human	known	69_37n	missense	101	10.62	12	SNP	0.399	A
IGSF10	285313	genome.wustl.edu	37	3	151165784	151165784	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:151165784A>G	ENST00000282466.3	-	4	1984	c.1985T>C	c.(1984-1986)gTc>gCc	p.V662A		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	662					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCATCTTGACTGAAACTTG	0.448																																						dbGAP											0													99.0	100.0	100.0					3																	151165784		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1985T>C	3.37:g.151165784A>G	ENSP00000282466:p.Val662Ala		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V662A	ENST00000282466.3	37	c.1985	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329009	0.60743	.	.	ENSG00000152580	ENST00000282466	T	0.60920	0.15	5.26	5.26	0.73747	Immunoglobulin-like fold (1);	0.000000	0.41938	D	0.000790	D	0.84365	0.5456	H	0.98048	4.135	0.41917	D	0.990493	D	0.71674	0.998	D	0.71870	0.975	D	0.90629	0.4565	10	0.87932	D	0	.	15.1659	0.72825	1.0:0.0:0.0:0.0	.	662	Q6WRI0	IGS10_HUMAN	A	662	ENSP00000282466:V662A	ENSP00000282466:V662A	V	-	2	0	IGSF10	152648474	0.089000	0.21612	0.587000	0.28692	0.386000	0.30323	3.717000	0.54911	1.987000	0.57996	0.482000	0.46254	GTC	IGSF10	-	smart_Ig_sub	ENSG00000152580		0.448	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	111	0.00	0	A	NM_178822		151165784	151165784	-1	no_errors	ENST00000282466	ensembl	human	known	69_37n	missense	55	69.73	129	SNP	0.870	G
IGSF3	3321	genome.wustl.edu	37	1	117142951	117142951	+	Silent	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:117142951G>T	ENST00000369486.3	-	7	2406	c.1641C>A	c.(1639-1641)gtC>gtA	p.V547V	IGSF3_ENST00000318837.6_Silent_p.V567V|IGSF3_ENST00000369483.1_Silent_p.V567V	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	547	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGATGGCTGTGACTGCGAAGC	0.567																																						dbGAP											0													29.0	33.0	32.0					1																	117142951		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1641C>A	1.37:g.117142951G>T			A6NJZ6|A6NMC7	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V567	ENST00000369486.3	37	c.1701	CCDS30813.1	1																																																																																			IGSF3	-	NULL	ENSG00000143061		0.567	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	39	0.00	0	G	NM_001542		117142951	117142951	-1	no_errors	ENST00000318837	ensembl	human	known	69_37n	silent	45	13.46	7	SNP	1.000	T
IKZF3	22806	genome.wustl.edu	37	17	37988374	37988374	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:37988374G>A	ENST00000346872.3	-	2	99	c.38C>T	c.(37-39)aCt>aTt	p.T13I	IKZF3_ENST00000439016.2_Missense_Mutation_p.T13I|IKZF3_ENST00000394189.2_Missense_Mutation_p.T13I|IKZF3_ENST00000439167.2_Missense_Mutation_p.T13I|IKZF3_ENST00000346243.3_Missense_Mutation_p.T13I|IKZF3_ENST00000377945.3_Missense_Mutation_p.T13I|IKZF3_ENST00000377944.3_Missense_Mutation_p.T13I|IKZF3_ENST00000467757.1_Missense_Mutation_p.T13I|IKZF3_ENST00000351680.3_Missense_Mutation_p.T13I|IKZF3_ENST00000350532.3_Missense_Mutation_p.T13I|IKZF3_ENST00000535189.1_Missense_Mutation_p.T13I|IKZF3_ENST00000377952.2_Missense_Mutation_p.T13I|IKZF3_ENST00000377958.2_Missense_Mutation_p.T13I	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	13					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGCTCCTGAGTGCTTTTCAG	0.368																																						dbGAP											0													120.0	118.0	119.0					17																	37988374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.38C>T	17.37:g.37988374G>A	ENSP00000344544:p.Thr13Ile		B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T13I	ENST00000346872.3	37	c.38	CCDS11346.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.997814|1.997814	0.35226|0.35226	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000439167;ENST00000439016|ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	.|T;T;T;T;T;T;T;T;T;T;T	.|0.08896	.|3.37;3.49;3.45;3.12;3.04;3.66;3.31;3.4;3.42;3.32;4.35	5.34|5.34	0.917|0.917	0.19380|0.19380	.|.	.|0.931939	.|0.08880	.|N	.|0.880158	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.19112|0.19112	0.55|0.55	0.23969|0.23969	N|N	0.99631|0.99631	.|D;B;B;B;B;D;B;D;B;B;B;D;B	.|0.76494	.|0.994;0.032;0.032;0.032;0.032;0.999;0.191;0.981;0.191;0.21;0.035;0.999;0.021	.|D;B;B;B;B;D;B;P;B;B;B;D;B	.|0.83275	.|0.983;0.015;0.022;0.022;0.013;0.996;0.041;0.727;0.041;0.094;0.041;0.996;0.019	T|T	0.36841|0.36841	-0.9731|-0.9731	5|10	.|0.62326	.|D	.|0.03	-4.6509|-4.6509	8.1508|8.1508	0.31139|0.31139	0.0881:0.4766:0.4354:0.0|0.0881:0.4766:0.4354:0.0	.|.	.|13;13;13;13;13;13;13;13;13;13;13;13;13	.|Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.|.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	F|I	1|13	.|ENSP00000344544:T13I;ENSP00000367180:T13I;ENSP00000377741:T13I;ENSP00000367179:T13I;ENSP00000367194:T13I;ENSP00000367188:T13I;ENSP00000438972:T13I;ENSP00000345622:T13I;ENSP00000341977:T13I;ENSP00000344471:T13I;ENSP00000420463:T13I	.|ENSP00000341977:T13I	L|T	-|-	1|2	0|0	IKZF3|IKZF3	35241900|35241900	0.843000|0.843000	0.29541|0.29541	0.976000|0.976000	0.42696|0.42696	0.704000|0.704000	0.40688|0.40688	0.577000|0.577000	0.23758|0.23758	0.193000|0.193000	0.20303|0.20303	0.563000|0.563000	0.77884|0.77884	CTC|ACT	IKZF3	-	NULL	ENSG00000161405		0.368	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF3	HGNC	protein_coding	OTTHUMT00000257004.2	180	0.00	0	G	NM_012481		37988374	37988374	-1	no_errors	ENST00000346872	ensembl	human	known	69_37n	missense	102	22.14	29	SNP	0.961	A
IL17RB	55540	genome.wustl.edu	37	3	53891711	53891711	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:53891711G>A	ENST00000288167.3	+	8	750	c.741G>A	c.(739-741)acG>acA	p.T247T	RP11-884K10.7_ENST00000607783.1_RNA	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	247					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AAGGTGCTACGGTGCAGGTAA	0.463																																						dbGAP											0													142.0	121.0	128.0					3																	53891711		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.741G>A	3.37:g.53891711G>A			Q9BPZ0|Q9NRL4|Q9NRM5	Silent	SNP	pfam_SEFIR	p.T247	ENST00000288167.3	37	c.741	CCDS2874.1	3																																																																																			IL17RB	-	NULL	ENSG00000056736		0.463	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RB	HGNC	protein_coding	OTTHUMT00000350563.1	147	0.00	0	G	NM_172234		53891711	53891711	+1	no_errors	ENST00000288167	ensembl	human	known	69_37n	silent	148	10.30	17	SNP	0.843	A
IL1RL2	8808	genome.wustl.edu	37	2	102842496	102842496	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:102842496T>C	ENST00000264257.2	+	9	1256	c.1130T>C	c.(1129-1131)aTa>aCa	p.I377T	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.I377T|IL1RL2_ENST00000441515.2_Missense_Mutation_p.I259T	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	377					cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ACAGAGACCATAGTAGGTAAG	0.363																																						dbGAP											0													126.0	112.0	117.0					2																	102842496		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1130T>C	2.37:g.102842496T>C	ENSP00000264257:p.Ile377Thr		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,prints_IL1R_rcpt	p.I377T	ENST00000264257.2	37	c.1130	CCDS2056.1	2	.	.	.	.	.	.	.	.	.	.	T	6.444	0.450124	0.12223	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.02421	4.3;4.3;4.3	5.78	-5.68	0.02436	Toll/interleukin-1 receptor homology (TIR) domain (1);	1.988730	0.01547	N	0.019509	T	0.01627	0.0052	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45381	-0.9265	10	0.13853	T	0.58	.	1.5822	0.02637	0.4132:0.2314:0.0824:0.273	.	259;377	A4FU63;Q9HB29	.;ILRL2_HUMAN	T	377;259;377	ENSP00000264257:I377T;ENSP00000413348:I259T;ENSP00000442184:I377T	ENSP00000264257:I377T	I	+	2	0	IL1RL2	102208928	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.094000	0.03359	-0.438000	0.07232	-0.290000	0.09829	ATA	IL1RL2	-	superfamily_TIR_dom	ENSG00000115598		0.363	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	144	0.00	0	T	NM_003854		102842496	102842496	+1	no_errors	ENST00000264257	ensembl	human	known	69_37n	missense	74	39.34	48	SNP	0.000	C
IFNL1	282618	genome.wustl.edu	37	19	39787501	39787501	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:39787501T>C	ENST00000333625.2	+	2	325	c.228T>C	c.(226-228)aaT>aaC	p.N76N		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	76					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)										TCCCCGGGAATTGGGACCTGA	0.567																																						dbGAP											0													80.0	77.0	78.0					19																	39787501		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"""Interferons"""	18363	protein-coding gene	gene with protein product		607403	"""interleukin 29"", ""interleukin 29 (interferon, lambda 1)"""	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.228T>C	19.37:g.39787501T>C			A0AV25|Q17R34	Silent	SNP	NULL	p.N76	ENST00000333625.2	37	c.228	CCDS12531.1	19																																																																																			IL29	-	NULL	ENSG00000182393		0.567	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL29	HGNC	protein_coding	OTTHUMT00000463834.1	61	0.00	0	T	NM_172140		39787501	39787501	+1	no_errors	ENST00000333625	ensembl	human	known	69_37n	silent	74	13.95	12	SNP	0.001	C
IL2RA	3559	genome.wustl.edu	37	10	6061845	6061845	+	Missense_Mutation	SNP	C	C	A	rs145428184		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:6061845C>A	ENST00000379959.3	-	5	816	c.643G>T	c.(643-645)Gtc>Ttc	p.V215F	IL2RA_ENST00000379954.1_Missense_Mutation_p.V143F|SNORA14_ENST00000516113.1_RNA|IL2RA_ENST00000256876.6_Missense_Mutation_p.V206F	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	215					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GTTGTTGTGACGAGGCAGGAA	0.587																																						dbGAP											0													147.0	128.0	134.0					10																	6061845		2203	4300	6503	-	-	-	SO:0001583	missense	0			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.643G>T	10.37:g.6061845C>A	ENSP00000369293:p.Val215Phe		Q5W007	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.V215F	ENST00000379959.3	37	c.643	CCDS7076.1	10	.	.	.	.	.	.	.	.	.	.	c	4.148	0.025852	0.08054	.	.	ENSG00000134460	ENST00000379959;ENST00000379954;ENST00000256876	T;T;T	0.47869	1.45;0.83;1.26	3.68	-7.37	0.01412	.	4.433050	0.00520	N	0.000183	T	0.15305	0.0369	N	0.00926	-1.1	0.09310	N	1	B;B	0.24533	0.105;0.001	B;B	0.18263	0.021;0.002	T	0.31752	-0.9932	10	0.40728	T	0.16	-19.8345	0.8946	0.01261	0.1787:0.1472:0.3097:0.3644	.	143;215	Q5W005;P01589	.;IL2RA_HUMAN	F	215;143;206	ENSP00000369293:V215F;ENSP00000369287:V143F;ENSP00000256876:V206F	ENSP00000256876:V206F	V	-	1	0	IL2RA	6101851	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.167000	0.03126	-4.768000	0.00032	-2.582000	0.00168	GTC	IL2RA	-	NULL	ENSG00000134460		0.587	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RA	HGNC	protein_coding	OTTHUMT00000046627.1	143	0.00	0	C	NM_000417		6061845	6061845	-1	no_errors	ENST00000379959	ensembl	human	known	69_37n	missense	125	23.78	39	SNP	0.000	A
IMPA2	3613	genome.wustl.edu	37	18	12030415	12030415	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr18:12030415G>T	ENST00000269159.3	+	8	1067	c.825G>T	c.(823-825)caG>caT	p.Q275H	IMPA2_ENST00000589238.1_Missense_Mutation_p.Q86H|RP11-703I16.1_ENST00000587619.1_RNA|IMPA2_ENST00000588927.1_Missense_Mutation_p.Q86H	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	275					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TCATAGCTCAGGCCTTACAGA	0.622																																						dbGAP											0													93.0	75.0	81.0					18																	12030415		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.825G>T	18.37:g.12030415G>T	ENSP00000269159:p.Gln275His		B0YJ29|Q9UJT3	Missense_Mutation	SNP	pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen	p.Q275H	ENST00000269159.3	37	c.825	CCDS11855.1	18	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084730	0.55861	.	.	ENSG00000141401	ENST00000269159	T	0.43294	0.95	5.27	3.47	0.39725	.	0.136255	0.49916	D	0.000121	T	0.34542	0.0901	L	0.41824	1.3	0.50467	D	0.999875	B;B	0.33694	0.016;0.421	B;B	0.34652	0.015;0.187	T	0.20207	-1.0282	10	0.45353	T	0.12	-19.741	11.9622	0.53015	0.1438:0.0:0.8562:0.0	.	248;275	O14732-2;O14732	.;IMPA2_HUMAN	H	275	ENSP00000269159:Q275H	ENSP00000269159:Q275H	Q	+	3	2	IMPA2	12020415	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.214000	0.51161	1.234000	0.43709	0.561000	0.74099	CAG	IMPA2	-	pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen	ENSG00000141401		0.622	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA2	HGNC	protein_coding	OTTHUMT00000254601.1	59	0.00	0	G			12030415	12030415	+1	no_errors	ENST00000269159	ensembl	human	known	69_37n	missense	56	31.71	26	SNP	1.000	T
INMT	11185	genome.wustl.edu	37	7	30795207	30795207	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:30795207G>A	ENST00000013222.5	+	3	548	c.532G>A	c.(532-534)Gct>Act	p.A178T	INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Missense_Mutation_p.A177T|INMT-FAM188B_ENST00000458257.1_Intron	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	178					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						TGCCTACCGCGCTGCCCTGTG	0.647																																						dbGAP											0													120.0	102.0	108.0					7																	30795207		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.532G>A	7.37:g.30795207G>A	ENSP00000013222:p.Ala178Thr		B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.A178T	ENST00000013222.5	37	c.532	CCDS5430.1	7	.	.	.	.	.	.	.	.	.	.	G	1.830	-0.470070	0.04445	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.03496	3.91;3.91	3.67	-2.02	0.07388	.	0.889887	0.09666	N	0.771750	T	0.03434	0.0099	L	0.48935	1.535	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.48703	-0.9012	10	0.13853	T	0.58	-6.3659	7.1845	0.25791	0.3462:0.1198:0.534:0.0	.	177;178	B8ZZ69;O95050	.;INMT_HUMAN	T	178;177	ENSP00000013222:A178T;ENSP00000386961:A177T	ENSP00000013222:A178T	A	+	1	0	INMT	30761732	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.825000	0.04433	-0.550000	0.06183	-2.069000	0.00389	GCT	INMT	-	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	ENSG00000241644		0.647	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INMT	HGNC	protein_coding	OTTHUMT00000214993.3	63	0.00	0	G	NM_006774		30795207	30795207	+1	no_errors	ENST00000013222	ensembl	human	known	69_37n	missense	47	18.64	11	SNP	0.000	A
INO80	54617	genome.wustl.edu	37	15	41384230	41384230	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:41384230T>C	ENST00000361937.3	-	5	956	c.532A>G	c.(532-534)Aag>Gag	p.K178E	INO80_ENST00000401393.3_Missense_Mutation_p.K178E			Q9ULG1	INO80_HUMAN	INO80 complex subunit	178	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTTACCTCCTTGTCTTTACTA	0.383																																						dbGAP											0													182.0	178.0	180.0					15																	41384230		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.532A>G	15.37:g.41384230T>C	ENSP00000355205:p.Lys178Glu		A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K178E	ENST00000361937.3	37	c.532	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	T	11.69	1.714524	0.30413	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90620	-2.7;-2.7	5.28	5.28	0.74379	.	0.105878	0.64402	D	0.000006	D	0.82499	0.5050	L	0.29908	0.895	0.42075	D	0.991222	B	0.32918	0.39	B	0.26864	0.074	T	0.80589	-0.1315	10	0.07990	T	0.79	.	15.3657	0.74519	0.0:0.0:0.0:1.0	.	178	Q9ULG1	INO80_HUMAN	E	178	ENSP00000355205:K178E;ENSP00000384686:K178E	ENSP00000355205:K178E	K	-	1	0	INO80	39171522	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.274000	0.58921	2.222000	0.72286	0.374000	0.22700	AAG	INO80	-	NULL	ENSG00000128908		0.383	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	301	0.00	0	T	NM_017553		41384230	41384230	-1	no_errors	ENST00000361937	ensembl	human	known	69_37n	missense	194	18.14	43	SNP	1.000	C
INPP5B	3633	genome.wustl.edu	37	1	38343876	38343876	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:38343876G>T	ENST00000373026.1	-	15	1901	c.1901C>A	c.(1900-1902)tCa>tAa	p.S634*	INPP5B_ENST00000373024.3_Nonsense_Mutation_p.S554*|INPP5B_ENST00000373027.1_Nonsense_Mutation_p.S390*|INPP5B_ENST00000373023.2_Nonsense_Mutation_p.S634*|INPP5B_ENST00000458109.2_3'UTR			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	634	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTCAAACACTGAGCTGACAGG	0.498																																						dbGAP											0													102.0	105.0	104.0					1																	38343876		2025	4187	6212	-	-	-	SO:0001587	stop_gained	0			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1901C>A	1.37:g.38343876G>T	ENSP00000362117:p.Ser634*		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S634*	ENST00000373026.1	37	c.1901		1	.	.	.	.	.	.	.	.	.	.	G	37	6.362770	0.97507	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	.	.	.	5.58	5.58	0.84498	.	0.055445	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.5753	0.95439	0.0:0.0:1.0:0.0	.	.	.	.	X	390;634;634;634;554	.	ENSP00000362114:S634X	S	-	2	0	INPP5B	38116463	1.000000	0.71417	0.982000	0.44146	0.675000	0.39556	9.363000	0.97131	2.641000	0.89580	0.563000	0.77884	TCA	INPP5B	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000204084		0.498	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	86	0.00	0	G	NM_005540		38343876	38343876	-1	no_errors	ENST00000373023	ensembl	human	known	69_37n	nonsense	66	22.35	19	SNP	1.000	T
INTS1	26173	genome.wustl.edu	37	7	1527075	1527075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:1527075delG	ENST00000404767.3	-	20	2612	c.2527delC	c.(2527-2529)cggfs	p.R844fs	INTS1_ENST00000389470.4_Frame_Shift_Del_p.R987fs	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	844					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGAGGCCTCCGGGGGGGCCCC	0.667																																						dbGAP											0													16.0	21.0	20.0					7																	1527075		1847	4076	5923	-	-	-	SO:0001589	frameshift_variant	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2527delC	7.37:g.1527075delG	ENSP00000385722:p.Arg844fs		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Frame_Shift_Del	DEL	pfam_DUF3677,superfamily_ARM-type_fold	p.R986fs	ENST00000404767.3	37	c.2956	CCDS47526.1	7																																																																																			INTS1	-	NULL	ENSG00000164880		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	19	0.00	0	G			1527075	1527075	-1	no_errors	ENST00000389470	ensembl	human	known	69_37n	frame_shift_del	14	39.13	9	DEL	1.000	-
IPO13	9670	genome.wustl.edu	37	1	44415402	44415402	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:44415402G>A	ENST00000372343.3	+	2	1060	c.398G>A	c.(397-399)aGc>aAc	p.S133N		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	133					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGGCTCTCAGCATGATGCCT	0.597																																						dbGAP											0													87.0	73.0	78.0					1																	44415402		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.398G>A	1.37:g.44415402G>A	ENSP00000361418:p.Ser133Asn		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.S133N	ENST00000372343.3	37	c.398	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	1.748	-0.490076	0.04322	.	.	ENSG00000117408	ENST00000372343	T	0.41758	0.99	5.46	4.55	0.56014	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.080122	0.85682	N	0.000000	T	0.11537	0.0281	N	0.00289	-1.7	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06356	-1.0831	10	0.28530	T	0.3	-3.1627	8.7189	0.34428	0.2267:0.0:0.7733:0.0	.	133	O94829	IPO13_HUMAN	N	133	ENSP00000361418:S133N	ENSP00000361418:S133N	S	+	2	0	IPO13	44187989	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.307000	0.65762	1.328000	0.45358	-0.339000	0.08088	AGC	IPO13	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000117408		0.597	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	43	0.00	0	G	NM_014652		44415402	44415402	+1	no_errors	ENST00000372343	ensembl	human	known	69_37n	missense	35	25.53	12	SNP	1.000	A
IQSEC3	440073	genome.wustl.edu	37	12	280295	280295	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:280295C>G	ENST00000538872.1	+	13	3200	c.3082C>G	c.(3082-3084)Ctc>Gtc	p.L1028V	IQSEC3_ENST00000382841.2_Missense_Mutation_p.L725V|IQSEC3_ENST00000326261.4_Missense_Mutation_p.L1028V|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000537151.1_3'UTR			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1028					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGAAGCCGCGCTCAGGGAGAG	0.617																																						dbGAP											0													99.0	104.0	102.0					12																	280295		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.3082C>G	12.37:g.280295C>G	ENSP00000437554:p.Leu1028Val		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.L1028V	ENST00000538872.1	37	c.3082	CCDS53728.1	12	.	.	.	.	.	.	.	.	.	.	C	0.140	-1.103031	0.01828	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.10005	5.78;5.78;2.92	3.31	-0.0899	0.13667	.	5.017750	0.00166	N	0.000004	T	0.06188	0.0160	N	0.08118	0	0.09310	N	1	B;B	0.26318	0.146;0.038	B;B	0.22152	0.038;0.023	T	0.32561	-0.9902	10	0.20519	T	0.43	.	7.6593	0.28394	0.0:0.2233:0.6455:0.1312	.	1028;725	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	V	1028;1028;725	ENSP00000437554:L1028V;ENSP00000315662:L1028V;ENSP00000372292:L725V	ENSP00000315662:L1028V	L	+	1	0	IQSEC3	150556	0.003000	0.15002	0.005000	0.12908	0.198000	0.23893	0.566000	0.23593	-0.020000	0.14032	0.561000	0.74099	CTC	IQSEC3	-	NULL	ENSG00000120645		0.617	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3	158	0.00	0	C	XM_495902		280295	280295	+1	no_errors	ENST00000326261	ensembl	human	known	69_37n	missense	119	20.13	30	SNP	0.041	G
IPO8	10526	genome.wustl.edu	37	12	30787096	30787096	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:30787096G>A	ENST00000256079.4	-	23	3158	c.2820C>T	c.(2818-2820)acC>acT	p.T940T	IPO8_ENST00000544829.1_Silent_p.T735T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	940					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTCAAGCGCGGTTTCTTCCA	0.418																																						dbGAP											0													260.0	201.0	221.0					12																	30787096		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2820C>T	12.37:g.30787096G>A			B7Z7M3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P98L	ENST00000256079.4	37	c.293	CCDS8719.1	12	.	.	.	.	.	.	.	.	.	.	G	7.822	0.717991	0.15372	.	.	ENSG00000133704	ENST00000535598	.	.	.	5.22	-9.81	0.00487	.	.	.	.	.	T	0.45538	0.1347	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56189	-0.8020	4	.	.	.	-23.6074	8.2931	0.31969	0.2872:0.5572:0.0627:0.0929	.	.	.	.	L	98	.	.	P	-	2	0	IPO8	30678363	0.048000	0.20356	0.939000	0.37840	0.708000	0.40852	-0.780000	0.04654	-1.052000	0.03222	-0.290000	0.09829	CCG	IPO8	-	superfamily_ARM-type_fold	ENSG00000133704		0.418	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO8	HGNC	protein_coding	OTTHUMT00000402700.2	244	0.41	1	G	NM_006390		30787096	30787096	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000535598	ensembl	human	putative	69_37n	missense	237	16.25	46	SNP	0.521	A
ITGAX	3687	genome.wustl.edu	37	16	31383824	31383824	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:31383824G>A	ENST00000268296.4	+	18	2407	c.2286G>A	c.(2284-2286)acG>acA	p.T762T	ITGAX_ENST00000562522.1_Silent_p.T762T	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	762					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						GATACTTCACGGCCTCCGTGA	0.627																																						dbGAP											0													60.0	57.0	58.0					16																	31383824		2197	4300	6497	-	-	-	SO:0001819	synonymous_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.2286G>A	16.37:g.31383824G>A			Q8IVA6	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.T762	ENST00000268296.4	37	c.2286	CCDS10711.1	16																																																																																			ITGAX	-	pfam_Integrin_alpha-2	ENSG00000140678		0.627	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	49	0.00	0	G	NM_000887		31383824	31383824	+1	no_errors	ENST00000268296	ensembl	human	known	69_37n	silent	83	17.82	18	SNP	0.004	A
ITGAX	3687	genome.wustl.edu	37	16	31388161	31388161	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:31388161C>T	ENST00000268296.4	+	21	2671	c.2550C>T	c.(2548-2550)agC>agT	p.S850S	ITGAX_ENST00000562522.1_Silent_p.S850S	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	850					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						CATGTGACAGCGCCCCAGTTG	0.557																																						dbGAP											0													65.0	65.0	65.0					16																	31388161		2197	4300	6497	-	-	-	SO:0001819	synonymous_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.2550C>T	16.37:g.31388161C>T			Q8IVA6	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.S850	ENST00000268296.4	37	c.2550	CCDS10711.1	16																																																																																			ITGAX	-	pfam_Integrin_alpha-2	ENSG00000140678		0.557	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	40	0.00	0	C	NM_000887		31388161	31388161	+1	no_errors	ENST00000268296	ensembl	human	known	69_37n	silent	44	15.38	8	SNP	0.000	T
ITGB1BP1	9270	genome.wustl.edu	37	2	9546974	9546974	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:9546974C>T	ENST00000360635.3	-	8	1488	c.592G>A	c.(592-594)Gag>Aag	p.E198K	ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000359712.3_3'UTR|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.E198K|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.E148K|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.E148K			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	198	PID.				activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		CAGGGTTTCTCAGATGTTAAT	0.363																																						dbGAP											0													143.0	139.0	140.0					2																	9546974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.592G>A	2.37:g.9546974C>T	ENSP00000353850:p.Glu198Lys		D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	pfam_Integrin-bd_ICAP-1,smart_PTyr_interaction_dom	p.E198K	ENST00000360635.3	37	c.592	CCDS1662.1	2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449832	0.84101	.	.	ENSG00000119185	ENST00000360635;ENST00000238091;ENST00000355346;ENST00000488451	.	.	.	5.63	4.76	0.60689	Phosphotyrosine interaction domain (1);	0.184976	0.64402	D	0.000019	T	0.35508	0.0934	N	0.12182	0.205	0.80722	D	1	B;B;P	0.37914	0.001;0.0;0.611	B;B;B	0.34536	0.007;0.001;0.185	T	0.40534	-0.9558	9	0.72032	D	0.01	-25.1436	15.0702	0.72030	0.0:0.9314:0.0:0.0686	.	154;148;198	B4DQY5;O14713-2;O14713	.;.;ITBP1_HUMAN	K	198;148;198;148	.	ENSP00000238091:E148K	E	-	1	0	ITGB1BP1	9464425	1.000000	0.71417	0.991000	0.47740	0.854000	0.48673	5.413000	0.66399	1.507000	0.48752	0.563000	0.77884	GAG	ITGB1BP1	-	pfam_Integrin-bd_ICAP-1,smart_PTyr_interaction_dom	ENSG00000119185		0.363	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ITGB1BP1	HGNC	protein_coding	OTTHUMT00000314623.2	152	0.00	0	C	NM_004763, NM_022334		9546974	9546974	-1	no_errors	ENST00000355346	ensembl	human	known	69_37n	missense	158	13.19	24	SNP	1.000	T
ITGB6	3694	genome.wustl.edu	37	2	160958270	160958270	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:160958270C>T	ENST00000283249.2	-	15	2581	c.2344G>A	c.(2344-2346)Gta>Ata	p.V782I	ITGB6_ENST00000409872.1_Missense_Mutation_p.V782I|ITGB6_ENST00000428609.2_Missense_Mutation_p.V740I|ITGB6_ENST00000409967.2_Missense_Mutation_p.V675I	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	782					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GAAAGGTCTACCTTTTGTTTT	0.308																																						dbGAP											0													168.0	163.0	165.0					2																	160958270		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2344G>A	2.37:g.160958270C>T	ENSP00000283249:p.Val782Ile		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Splice_Site	SNP	-	NULL	ENST00000283249.2	37	c.NULL	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463586	0.26248	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.90197	-2.51;-2.52;-2.63;-2.51	5.72	-2.79	0.05841	.	1.307280	0.04917	N	0.454221	T	0.76169	0.3950	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.61758	-0.6997	10	0.33141	T	0.24	.	1.1001	0.01682	0.2227:0.3422:0.1094:0.3257	.	740;782	E9PEE8;P18564	.;ITB6_HUMAN	I	782;740;675;782	ENSP00000283249:V782I;ENSP00000408024:V740I;ENSP00000386828:V675I;ENSP00000386367:V782I	ENSP00000283249:V782I	V	-	1	0	ITGB6	160666516	0.000000	0.05858	0.015000	0.15790	0.994000	0.84299	-0.901000	0.04093	-0.354000	0.08212	0.650000	0.86243	GTA	ITGB6	-	-	ENSG00000115221		0.308	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	330	0.00	0	C	NM_000888		160958270	160958270	-1	no_errors	ENST00000475438	ensembl	human	known	69_37n	splice_site	279	13.62	44	SNP	0.002	T
ITIH6	347365	genome.wustl.edu	37	X	54784294	54784294	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:54784294G>A	ENST00000218436.6	-	8	2242	c.2213C>T	c.(2212-2214)cCt>cTt	p.P738L		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	738	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGGCTTCAGAGGCAACAGAGT	0.527																																						dbGAP											0													149.0	142.0	145.0					X																	54784294		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2213C>T	X.37:g.54784294G>A	ENSP00000218436:p.Pro738Leu		A6NN03	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.P738L	ENST00000218436.6	37	c.2213	CCDS14361.1	X	.	.	.	.	.	.	.	.	.	.	G	0.122	-1.123903	0.01770	.	.	ENSG00000102313	ENST00000218436	T	0.02121	4.44	3.42	-0.131	0.13494	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.48990	-0.8985	9	0.22109	T	0.4	.	3.3496	0.07147	0.304:0.0:0.4885:0.2075	.	738	Q6UXX5	ITH5L_HUMAN	L	738	ENSP00000218436:P738L	ENSP00000218436:P738L	P	-	2	0	ITIH5L	54801019	0.000000	0.05858	0.044000	0.18714	0.031000	0.12232	-0.064000	0.11636	-0.002000	0.14469	0.597000	0.82753	CCT	ITIH6	-	NULL	ENSG00000102313		0.527	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	191	0.00	0	G	NM_198510		54784294	54784294	-1	no_errors	ENST00000218436	ensembl	human	known	69_37n	missense	180	13.88	29	SNP	0.030	A
ITPR2	3709	genome.wustl.edu	37	12	26564309	26564309	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:26564309A>G	ENST00000381340.3	-	52	7759	c.7343T>C	c.(7342-7344)aTg>aCg	p.M2448T	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2448					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TGCTTCCATCATGGTAGTTAA	0.373																																						dbGAP											0													131.0	118.0	122.0					12																	26564309		1883	4107	5990	-	-	-	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7343T>C	12.37:g.26564309A>G	ENSP00000370744:p.Met2448Thr		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.M2448T	ENST00000381340.3	37	c.7343	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	A	9.573	1.121551	0.20877	.	.	ENSG00000123104	ENST00000381340	D	0.91068	-2.78	5.3	4.15	0.48705	Ion transport (1);	0.292616	0.37393	N	0.002115	T	0.74329	0.3702	N	0.02539	-0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65212	-0.6223	10	0.14656	T	0.56	.	9.8348	0.40963	0.9221:0.0:0.0779:0.0	.	2448	Q14571	ITPR2_HUMAN	T	2448	ENSP00000370744:M2448T	ENSP00000370744:M2448T	M	-	2	0	ITPR2	26455576	1.000000	0.71417	0.551000	0.28230	0.313000	0.28021	4.304000	0.59104	0.965000	0.38133	0.477000	0.44152	ATG	ITPR2	-	pfam_Ion_trans_dom	ENSG00000123104		0.373	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	149	0.00	0	A	NM_002223		26564309	26564309	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	missense	143	20.56	37	SNP	0.948	G
ITSN1	6453	genome.wustl.edu	37	21	35183328	35183328	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr21:35183328A>G	ENST00000381318.3	+	21	2657	c.2369A>G	c.(2368-2370)aAa>aGa	p.K790R	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_Missense_Mutation_p.K785R|ITSN1_ENST00000399349.1_Missense_Mutation_p.K785R|ITSN1_ENST00000399326.3_Missense_Mutation_p.K785R|ITSN1_ENST00000399367.3_Missense_Mutation_p.K785R|ITSN1_ENST00000399353.1_Missense_Mutation_p.K748R|ITSN1_ENST00000399352.1_Missense_Mutation_p.K785R|ITSN1_ENST00000399338.4_Missense_Mutation_p.K785R|ITSN1_ENST00000381291.4_Missense_Mutation_p.K790R|ITSN1_ENST00000437442.2_Missense_Mutation_p.K785R|ITSN1_ENST00000399355.2_Missense_Mutation_p.K790R|ITSN1_ENST00000381285.4_Missense_Mutation_p.K790R	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	790	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAGAATTAAAAGGAAAGACA	0.458																																						dbGAP											0													87.0	100.0	96.0					21																	35183328		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2369A>G	21.37:g.35183328A>G	ENSP00000370719:p.Lys790Arg		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.K790R	ENST00000381318.3	37	c.2369	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	A	11.12	1.545066	0.27652	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	6.04	6.04	0.98038	Src homology-3 domain (4);	0.047891	0.85682	D	0.000000	T	0.33990	0.0882	N	0.02334	-0.595	0.52501	D	0.99995	B;B;B;B;B;B;B;B;B;B	0.34329	0.41;0.193;0.219;0.363;0.178;0.449;0.062;0.105;0.033;0.173	B;P;B;B;B;B;B;B;B;B	0.44647	0.251;0.456;0.138;0.267;0.051;0.228;0.163;0.268;0.074;0.241	T	0.43294	-0.9400	10	0.25751	T	0.34	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	753;753;748;785;790;785;785;790;785;748	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	R	748;790;790;790;790;785;785;785;790;785;785;785;785;785	ENSP00000382290:K748R;ENSP00000370719:K790R;ENSP00000370691:K790R;ENSP00000370685:K790R;ENSP00000382301:K785R;ENSP00000382289:K785R;ENSP00000382292:K790R;ENSP00000382286:K785R;ENSP00000382275:K785R;ENSP00000387377:K785R;ENSP00000382265:K785R;ENSP00000369294:K785R	ENSP00000369294:K785R	K	+	2	0	ITSN1	34105198	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	6.936000	0.75892	2.317000	0.78254	0.460000	0.39030	AAA	ITSN1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000205726		0.458	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	47	0.00	0	A	NM_003024		35183328	35183328	+1	no_errors	ENST00000381285	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	1.000	G
IWS1	55677	genome.wustl.edu	37	2	128262356	128262356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:128262356delT	ENST00000295321.4	-	3	1382	c.1123delA	c.(1123-1125)atgfs	p.M375fs	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Frame_Shift_Del_p.M382fs	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	375	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCACTGTCCATTTTTTGCTTT	0.398																																						dbGAP											0													330.0	325.0	327.0					2																	128262356		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1123delA	2.37:g.128262356delT	ENSP00000295321:p.Met375fs		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Frame_Shift_Del	DEL	pfam_TFIIS_N,superfamily_TFIIS_N	p.M375fs	ENST00000295321.4	37	c.1123	CCDS2146.1	2																																																																																			IWS1	-	NULL	ENSG00000163166		0.398	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IWS1	HGNC	protein_coding	OTTHUMT00000254384.2	457	0.00	0	T	NM_017969		128262356	128262356	-1	no_errors	ENST00000295321	ensembl	human	known	69_37n	frame_shift_del	383	15.16	69	DEL	0.062	-
KANSL1L	151050	genome.wustl.edu	37	2	211019076	211019076	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:211019076G>A	ENST00000281772.9	-	2	494	c.231C>T	c.(229-231)taC>taT	p.Y77Y	KANSL1L_ENST00000457374.1_Silent_p.Y77Y|KANSL1L_ENST00000452086.1_Silent_p.Y77Y|KANSL1L_ENST00000418791.1_Silent_p.Y77Y|KANSL1L_ENST00000429908.2_5'UTR	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	77						histone acetyltransferase complex (GO:0000123)											AAACAGTCTGGTAATGTTTTG	0.323																																						dbGAP											0													78.0	82.0	81.0					2																	211019076		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.231C>T	2.37:g.211019076G>A			B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	NULL	p.Y77	ENST00000281772.9	37	c.231	CCDS33370.1	2																																																																																			KANSL1L	-	NULL	ENSG00000144445		0.323	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL1L	HGNC	protein_coding	OTTHUMT00000336633.3	171	0.00	0	G	NM_152519		211019076	211019076	-1	no_errors	ENST00000281772	ensembl	human	known	69_37n	silent	103	15.57	19	SNP	1.000	A
KCNAB1	7881	genome.wustl.edu	37	3	156175252	156175252	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:156175252G>C	ENST00000490337.1	+	4	432	c.368G>C	c.(367-369)cGg>cCg	p.R123P	KCNAB1_ENST00000389634.5_Missense_Mutation_p.R105P|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Missense_Mutation_p.R123P|KCNAB1_ENST00000471742.1_Missense_Mutation_p.R112P|KCNAB1_ENST00000302490.8_Missense_Mutation_p.R105P	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	123					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GTTGCTGAACGGCTGATGACC	0.463																																						dbGAP											0													209.0	184.0	192.0					3																	156175252		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.368G>C	3.37:g.156175252G>C	ENSP00000419952:p.Arg123Pro		A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.R123P	ENST00000490337.1	37	c.368	CCDS3174.1	3	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068019	0.55539	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000475456;ENST00000302490;ENST00000389634	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.48	4.6	0.57074	NADP-dependent oxidoreductase domain (3);	0.060107	0.64402	D	0.000002	T	0.38321	0.1036	N	0.20304	0.555	0.32124	N	0.587627	B;B;B;B;B	0.29766	0.194;0.07;0.087;0.256;0.194	P;B;B;B;P	0.45474	0.482;0.164;0.252;0.35;0.482	T	0.51608	-0.8684	10	0.56958	D	0.05	-11.0344	9.2085	0.37304	0.096:0.0:0.904:0.0	.	123;105;105;112;123	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	P	41;123;123;112;66;105;105	ENSP00000420755:R41P;ENSP00000419952:R123P;ENSP00000374287:R123P;ENSP00000418956:R112P;ENSP00000420221:R66P;ENSP00000305858:R105P;ENSP00000374285:R105P	ENSP00000305858:R105P	R	+	2	0	KCNAB1	157657946	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.524000	0.60552	2.554000	0.86153	0.655000	0.94253	CGG	KCNAB1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB	ENSG00000169282		0.463	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	HGNC	protein_coding	OTTHUMT00000351411.1	173	0.00	0	G	NM_003471		156175252	156175252	+1	no_errors	ENST00000490337	ensembl	human	known	69_37n	missense	306	11.05	38	SNP	1.000	C
KCNH6	81033	genome.wustl.edu	37	17	61615558	61615558	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:61615558T>C	ENST00000583023.1	+	7	1645	c.1634T>C	c.(1633-1635)cTg>cCg	p.L545P	KCNH6_ENST00000581784.1_Missense_Mutation_p.L492P|KCNH6_ENST00000456941.2_Missense_Mutation_p.L492P|KCNH6_ENST00000314672.5_Missense_Mutation_p.L545P	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	545					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCCAACCCACTGCGCCAGCGC	0.642																																						dbGAP											0													87.0	79.0	82.0					17																	61615558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1634T>C	17.37:g.61615558T>C	ENSP00000463533:p.Leu545Pro		Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.L545P	ENST00000583023.1	37	c.1634	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	T	16.38	3.107766	0.56291	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.97941	-4.62;-4.62	3.95	3.95	0.45737	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000003	D	0.97340	0.9130	H	0.94462	3.54	0.80722	D	1	P;B;P;B	0.49559	0.67;0.067;0.925;0.019	B;B;B;B	0.36766	0.176;0.017;0.232;0.017	D	0.97371	0.9976	10	0.72032	D	0.01	.	12.9824	0.58572	0.0:0.0:0.0:1.0	.	422;545;492;545	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	P	545;492	ENSP00000318212:L545P;ENSP00000396900:L492P	ENSP00000318212:L545P	L	+	2	0	KCNH6	58969290	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.859000	0.86982	1.661000	0.50771	0.260000	0.18958	CTG	KCNH6	-	superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_ERG	ENSG00000173826		0.642	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	62	0.00	0	T	NM_030779		61615558	61615558	+1	no_errors	ENST00000583023	ensembl	human	known	69_37n	missense	106	12.40	15	SNP	1.000	C
KCNH8	131096	genome.wustl.edu	37	3	19491706	19491706	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:19491706G>A	ENST00000328405.2	+	9	1750	c.1484G>A	c.(1483-1485)cGt>cAt	p.R495H	KCNH8_ENST00000537696.1_Missense_Mutation_p.R164H	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	495					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GATTTCATCCGTGTCCATCAC	0.433																																					NSCLC(124;1625 1765 8018 24930 42026)	dbGAP											0													190.0	171.0	178.0					3																	19491706		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1484G>A	3.37:g.19491706G>A	ENSP00000328813:p.Arg495His		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.R495H	ENST00000328405.2	37	c.1484	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.590247	0.96590	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	D;T	0.96940	-4.18;1.86	6.02	6.02	0.97574	Cyclic nucleotide-binding-like (1);	0.000000	0.32459	U	0.006076	D	0.98015	0.9346	M	0.77103	2.36	0.80722	D	1	D;P;D	0.89917	1.0;0.743;0.999	D;B;P	0.67725	0.953;0.199;0.834	D	0.97489	1.0052	9	.	.	.	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	164;495;495	B7Z2I7;B7Z398;Q96L42	.;.;KCNH8_HUMAN	H	495;164	ENSP00000328813:R495H;ENSP00000446294:R164H	.	R	+	2	0	KCNH8	19466710	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	9.835000	0.99442	2.857000	0.98124	0.650000	0.86243	CGT	KCNH8	-	superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_ERG	ENSG00000183960		0.433	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	138	0.00	0	G	NM_144633		19491706	19491706	+1	no_errors	ENST00000328405	ensembl	human	known	69_37n	missense	159	14.05	26	SNP	1.000	A
KCTD3	51133	genome.wustl.edu	37	1	215785258	215785258	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:215785258delA	ENST00000259154.4	+	15	1851	c.1557delA	c.(1555-1557)ggafs	p.G519fs		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	519					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CATCGACTGGAAAAAGGTAAC	0.368																																						dbGAP											0													69.0	74.0	72.0					1																	215785258		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1557delA	1.37:g.215785258delA	ENSP00000259154:p.Gly519fs		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Frame_Shift_Del	DEL	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.R521fs	ENST00000259154.4	37	c.1557	CCDS1515.1	1																																																																																			KCTD3	-	smart_WD40_repeat	ENSG00000136636		0.368	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD3	HGNC	protein_coding	OTTHUMT00000089871.2	102	0.00	0	A	NM_016121		215785258	215785258	+1	no_errors	ENST00000259154	ensembl	human	known	69_37n	frame_shift_del	81	13.83	13	DEL	0.990	-
KDM2B	84678	genome.wustl.edu	37	12	122017957	122017957	+	Intron	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:122017957delT	ENST00000377071.4	-	1	199				KDM2B_ENST00000536437.1_Intron|RP13-941N14.1_ENST00000541574.1_lincRNA|KDM2B_ENST00000377069.4_Start_Codon_Del|KDM2B_ENST00000538046.2_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B						embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTGCCTCCATTTTTTTAGGA	0.373																																						dbGAP											0													128.0	133.0	132.0					12																	122017957		1806	4071	5877	-	-	-	SO:0001627	intron_variant	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.126+733A>-	12.37:g.122017957delT			A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Frame_Shift_Del	DEL	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.M1fs	ENST00000377071.4	37	c.1	CCDS41850.1	12																																																																																			KDM2B	-	NULL	ENSG00000089094		0.373	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	123	0.00	0	T	NM_032590		122017957	122017957	-1	no_errors	ENST00000377069	ensembl	human	known	69_37n	frame_shift_del	102	17.60	22	DEL	1.000	-
KDM5A	5927	genome.wustl.edu	37	12	416953	416953	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:416953delT	ENST00000399788.2	-	23	3959	c.3597delA	c.(3595-3597)aaafs	p.K1199fs	KDM5A_ENST00000382815.4_Frame_Shift_Del_p.K1199fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1199					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGCTGGATCCTTTTTTTTGGG	0.478			T	NUP98	AML																																	dbGAP		Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													107.0	104.0	105.0					12																	416953		1897	4119	6016	-	-	-	SO:0001589	frameshift_variant	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3597delA	12.37:g.416953delT	ENSP00000382688:p.Lys1199fs		A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Del	DEL	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.G1200fs	ENST00000399788.2	37	c.3597	CCDS41736.1	12																																																																																			KDM5A	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000073614		0.478	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	121	0.82	1	T	NM_005056		416953	416953	-1	no_errors	ENST00000399788	ensembl	human	known	69_37n	frame_shift_del	81	29.75	36	DEL	0.987	-
KDM5B	10765	genome.wustl.edu	37	1	202724577	202724577	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:202724577A>G	ENST00000367265.3	-	11	2524	c.1360T>C	c.(1360-1362)Tat>Cat	p.Y454H	KDM5B_ENST00000367264.2_Missense_Mutation_p.Y490H|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	454	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTATCAAGATACTCCTAAAAA	0.353																																						dbGAP											0													85.0	92.0	90.0					1																	202724577		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1360T>C	1.37:g.202724577A>G	ENSP00000356234:p.Tyr454His		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.Y454H	ENST00000367265.3	37	c.1360	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	A	31	5.065503	0.93898	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.71934	-0.61;-0.61;-0.61	5.73	5.73	0.89815	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.87857	0.6283	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.964;1.0	D	0.90770	0.4671	10	0.87932	D	0	-21.1498	16.0233	0.80516	1.0:0.0:0.0:0.0	.	490;454	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	H	454;296;490;296	ENSP00000356234:Y454H;ENSP00000356233:Y490H;ENSP00000235790:Y296H	ENSP00000235790:Y296H	Y	-	1	0	KDM5B	200991200	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.335000	0.96500	2.186000	0.69663	0.533000	0.62120	TAT	KDM5B	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000117139		0.353	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	61	0.00	0	A	NM_006618		202724577	202724577	-1	no_errors	ENST00000367265	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	1.000	G
KHK	3795	genome.wustl.edu	37	2	27322379	27322379	+	Missense_Mutation	SNP	C	C	T	rs199989985		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:27322379C>T	ENST00000260599.6	+	7	1258	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	CGREF1_ENST00000402550.1_3'UTR|CGREF1_ENST00000452318.2_3'UTR|KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.R249C	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	249					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGCCACCCCGCGTGGTGGA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19445	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													80.0	82.0	82.0					2																	27322379		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.745C>T	2.37:g.27322379C>T	ENSP00000260599:p.Arg249Cys		Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	pfam_PfkB	p.R249C	ENST00000260599.6	37	c.745	CCDS1734.1	2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.36	1.915848	0.33815	.	.	ENSG00000138030	ENST00000260599;ENST00000260598	T;T	0.76448	-1.02;-1.02	5.29	5.29	0.74685	Carbohydrate/purine kinase (1);	0.448518	0.25807	N	0.028171	T	0.69360	0.3102	L	0.49778	1.585	0.35723	D	0.817308	B;B;B;B	0.32467	0.366;0.092;0.372;0.092	B;B;B;B	0.26614	0.071;0.01;0.06;0.01	T	0.76454	-0.2953	10	0.59425	D	0.04	-14.308	9.9667	0.41730	0.0:0.9076:0.0:0.0924	.	249;249;249;249	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	C	249	ENSP00000260599:R249C;ENSP00000260598:R249C	ENSP00000260598:R249C	R	+	1	0	KHK	27175883	0.029000	0.19370	0.935000	0.37517	0.455000	0.32408	1.149000	0.31626	2.469000	0.83416	0.555000	0.69702	CGC	KHK	-	pfam_PfkB	ENSG00000138030		0.627	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KHK	HGNC	protein_coding	OTTHUMT00000214196.1	50	0.00	0	C			27322379	27322379	+1	no_errors	ENST00000260598	ensembl	human	known	69_37n	missense	62	17.33	13	SNP	0.421	T
KIAA0319L	79932	genome.wustl.edu	37	1	35972480	35972480	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:35972480delT	ENST00000325722.3	-	3	633	c.399delA	c.(397-399)aaafs	p.K133fs		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	133						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGTTTGGAATTTTTTTAAAA	0.512																																						dbGAP											0													72.0	81.0	78.0					1																	35972480		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.399delA	1.37:g.35972480delT	ENSP00000318406:p.Lys133fs		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Frame_Shift_Del	DEL	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.K133fs	ENST00000325722.3	37	c.399	CCDS390.1	1																																																																																			KIAA0319L	-	NULL	ENSG00000142687		0.512	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	61	0.00	0	T	NM_024874		35972480	35972480	-1	no_errors	ENST00000325722	ensembl	human	known	69_37n	frame_shift_del	52	10.34	6	DEL	0.034	-
KIAA0907	22889	genome.wustl.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	NULL	p.R516fs	ENST00000368321.3	37	c.1547_1546	CCDS30885.1	1																																																																																			KIAA0907	-	NULL	ENSG00000132680		0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	51	0.00	0	CT	NM_014949		155886422	155886423	-1	no_errors	ENST00000368321	ensembl	human	known	69_37n	frame_shift_del	60	14.29	10	DEL	1.000:1.000	-
KIAA1033	23325	genome.wustl.edu	37	12	105512306	105512306	+	Splice_Site	SNP	A	A	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:105512306A>C	ENST00000332180.5	+	7	605	c.518A>C	c.(517-519)aAg>aCg	p.K173T		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						ATCAGTAACAAGTAATGGATT	0.348																																						dbGAP											0													100.0	92.0	95.0					12																	105512306		1814	4071	5885	-	-	-	SO:0001630	splice_region_variant	0			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.518+1A>C	12.37:g.105512306A>C				Missense_Mutation	SNP	NULL	p.K173T	ENST00000332180.5	37	c.518	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	A	22.8	4.336794	0.81801	.	.	ENSG00000136051	ENST00000332180	T	0.33865	1.39	5.84	5.84	0.93424	.	0.086508	0.85682	D	0.000000	T	0.35885	0.0947	L	0.47716	1.5	0.80722	D	1	B;B	0.30281	0.275;0.275	B;B	0.38842	0.283;0.283	T	0.17048	-1.0382	9	.	.	.	.	10.5419	0.45037	0.9281:0.0:0.0719:0.0	.	173;173	B7ZKT9;Q2M389	.;WASH7_HUMAN	T	173	ENSP00000328062:K173T	.	K	+	2	0	KIAA1033	104036436	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.330000	0.79181	2.220000	0.72140	0.482000	0.46254	AAG	KIAA1033	-	NULL	ENSG00000136051		0.348	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	156	0.00	0	A	NM_015275	Missense_Mutation	105512306	105512306	+1	no_errors	ENST00000332180	ensembl	human	known	69_37n	missense	131	18.12	29	SNP	1.000	C
KIAA1211	57482	genome.wustl.edu	37	4	57182678	57182678	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:57182678T>C	ENST00000504228.1	+	6	3115	c.3010T>C	c.(3010-3012)Tcc>Ccc	p.S1004P	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S997P|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S1004P			Q6ZU35	K1211_HUMAN	KIAA1211	1004	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGTGAGCCGTCCAAGGAGGA	0.657																																						dbGAP											0													30.0	37.0	35.0					4																	57182678		2024	4167	6191	-	-	-	SO:0001583	missense	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3010T>C	4.37:g.57182678T>C	ENSP00000423366:p.Ser1004Pro		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.S1004P	ENST00000504228.1	37	c.3010	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	T	11.17	1.561057	0.27827	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.12879	2.65;2.65;2.64	5.71	-6.71	0.01760	.	.	.	.	.	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.08055	0.003;0.003;0.003	T	0.40308	-0.9570	9	0.32370	T	0.25	-0.1158	4.3473	0.11139	0.1901:0.1696:0.5007:0.1396	.	997;997;1004	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	P	1004;1004;997	ENSP00000264229:S1004P;ENSP00000423366:S1004P;ENSP00000444006:S997P	ENSP00000264229:S1004P	S	+	1	0	KIAA1211	56877435	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.559000	0.05971	-0.745000	0.04772	-0.396000	0.06452	TCC	KIAA1211	-	NULL	ENSG00000109265		0.657	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	33	0.00	0	T	NM_020722		57182678	57182678	+1	no_errors	ENST00000504228	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	0.000	C
KIAA1244	57221	genome.wustl.edu	37	6	138599672	138599672	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:138599672C>T	ENST00000251691.4	+	13	2379	c.2213C>T	c.(2212-2214)gCa>gTa	p.A738V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TACACAGCTGCACACTGCGCC	0.592																																						dbGAP											0													180.0	145.0	157.0					6																	138599672		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2213C>T	6.37:g.138599672C>T	ENSP00000251691:p.Ala738Val			Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.A738V	ENST00000251691.4	37	c.2213	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007675	0.54361	.	.	ENSG00000112379	ENST00000251691	T	0.48836	0.8	5.54	5.54	0.83059	SEC7-like (1);	1.486770	0.03652	N	0.241194	T	0.17662	0.0424	N	0.03608	-0.345	0.48696	D	0.999697	B	0.31383	0.321	B	0.29353	0.101	T	0.03374	-1.1043	10	0.25751	T	0.34	-22.9491	17.6587	0.88185	0.0:1.0:0.0:0.0	.	738	Q5TH69	BIG3_HUMAN	V	738	ENSP00000251691:A738V	ENSP00000251691:A738V	A	+	2	0	KIAA1244	138641365	1.000000	0.71417	0.120000	0.21714	0.697000	0.40408	6.952000	0.75989	2.604000	0.88044	0.455000	0.32223	GCA	KIAA1244	-	superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	ENSG00000112379		0.592	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	88	0.00	0	C	NM_020340		138599672	138599672	+1	no_errors	ENST00000251691	ensembl	human	known	69_37n	missense	93	17.70	20	SNP	0.976	T
GPALPP1	55425	genome.wustl.edu	37	13	45589722	45589722	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:45589722G>C	ENST00000379151.4	+	6	799	c.696G>C	c.(694-696)agG>agC	p.R232S	GPALPP1_ENST00000357537.3_Missense_Mutation_p.R62S|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_Missense_Mutation_p.R232S	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	232																	ATAGGGAAAGGAAAGCTAAGG	0.378																																						dbGAP											0													98.0	95.0	96.0					13																	45589722		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.696G>C	13.37:g.45589722G>C	ENSP00000368447:p.Arg232Ser		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	pfam_DUF3752	p.R232S	ENST00000379151.4	37	c.696	CCDS9394.1	13	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784731	0.49997	.	.	ENSG00000133114	ENST00000379151;ENST00000361121;ENST00000357537	.	.	.	5.61	2.94	0.34122	.	0.085246	0.85682	D	0.000000	T	0.59810	0.2221	M	0.72894	2.215	0.54753	D	0.999987	B;P	0.37038	0.128;0.579	B;P	0.45449	0.1;0.481	T	0.53662	-0.8407	9	0.34782	T	0.22	-2.6012	7.8558	0.29480	0.4038:0.0:0.5962:0.0	.	83;232	Q8IXQ4-2;Q8IXQ4	.;K1704_HUMAN	S	232;232;62	.	ENSP00000350145:R62S	R	+	3	2	KIAA1704	44487722	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.679000	0.37597	0.399000	0.25367	0.655000	0.94253	AGG	KIAA1704	-	pfam_DUF3752	ENSG00000133114		0.378	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1704	HGNC	protein_coding	OTTHUMT00000044749.2	74	0.00	0	G	NM_018559		45589722	45589722	+1	no_errors	ENST00000361121	ensembl	human	known	69_37n	missense	53	23.19	16	SNP	1.000	C
CCAR2	57805	genome.wustl.edu	37	8	22472975	22472975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:22472975delC	ENST00000308511.4	+	12	1492	c.1243delC	c.(1243-1245)cccfs	p.P416fs	CCAR2_ENST00000520861.1_Frame_Shift_Del_p.P91fs|CCAR2_ENST00000389279.3_Frame_Shift_Del_p.P416fs|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	416					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GCAGCCGGGACCCCCCCGGCG	0.582																																						dbGAP											0													68.0	80.0	76.0					8																	22472975		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1243delC	8.37:g.22472975delC	ENSP00000310670:p.Pro416fs		A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Frame_Shift_Del	DEL	superfamily_NA-bd_OB-fold-like	p.R417fs	ENST00000308511.4	37	c.1243	CCDS34863.1	8																																																																																			KIAA1967	-	NULL	ENSG00000158941		0.582	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1967	HGNC	protein_coding	OTTHUMT00000375865.1	25	0.00	0	C	NM_021174		22472975	22472975	+1	no_errors	ENST00000308511	ensembl	human	known	69_37n	frame_shift_del	28	15.15	5	DEL	1.000	-
KIF15	56992	genome.wustl.edu	37	3	44890031	44890031	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:44890031A>C	ENST00000326047.4	+	32	3936	c.3787A>C	c.(3787-3789)Atg>Ctg	p.M1263L	KIF15_ENST00000425755.1_Missense_Mutation_p.M898L	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1263					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGTTGAAGAAATGCTGAAAAT	0.269																																						dbGAP											0													45.0	46.0	46.0					3																	44890031		2183	4288	6471	-	-	-	SO:0001583	missense	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3787A>C	3.37:g.44890031A>C	ENSP00000324020:p.Met1263Leu		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M1263L	ENST00000326047.4	37	c.3787	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	A	9.809	1.182623	0.21870	.	.	ENSG00000163808	ENST00000326047;ENST00000425755	T;T	0.26518	1.73;1.73	5.5	4.34	0.51931	.	0.091506	0.47455	D	0.000224	T	0.16642	0.0400	L	0.45137	1.4	0.32155	N	0.583763	B	0.06786	0.001	B	0.04013	0.001	T	0.30475	-0.9977	10	0.02654	T	1	.	7.6469	0.28325	0.785:0.1407:0.0743:0.0	.	1263	Q9NS87	KIF15_HUMAN	L	1263;898	ENSP00000324020:M1263L;ENSP00000389982:M898L	ENSP00000324020:M1263L	M	+	1	0	KIF15	44865035	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.943000	0.49026	0.926000	0.37118	-0.250000	0.11733	ATG	KIF15	-	NULL	ENSG00000163808		0.269	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	144	0.00	0	A			44890031	44890031	+1	no_errors	ENST00000326047	ensembl	human	known	69_37n	missense	145	13.17	22	SNP	1.000	C
KIF5C	3800	genome.wustl.edu	37	2	149847639	149847639	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:149847639C>T	ENST00000435030.1	+	16	2200	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	KIF5C_ENST00000397413.1_Missense_Mutation_p.A379V|KIF5C_ENST00000414838.2_Missense_Mutation_p.A516V|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	611					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTCGAGAGCGCCCAGATGGAC	0.587																																						dbGAP											0													47.0	55.0	52.0					2																	149847639		2004	4177	6181	-	-	-	SO:0001583	missense	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1832C>T	2.37:g.149847639C>T	ENSP00000393379:p.Ala611Val		O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A611V	ENST00000435030.1	37	c.1832		2	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969797	0.53614	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.85861	-2.04;-2.04;-2.04	4.58	4.58	0.56647	.	0.213429	0.38605	N	0.001627	T	0.81446	0.4824	.	.	.	0.44241	D	0.997083	B;B	0.31383	0.071;0.321	B;B	0.35550	0.045;0.205	T	0.78440	-0.2203	8	.	.	.	.	17.5893	0.87991	0.0:1.0:0.0:0.0	.	611;177	O60282;Q3LIE3	KIF5C_HUMAN;.	V	611;516;514;379	ENSP00000393379:A611V;ENSP00000410115:A516V;ENSP00000380560:A379V	.	A	+	2	0	KIF5C	149555885	0.999000	0.42202	0.998000	0.56505	0.921000	0.55340	5.885000	0.69736	2.356000	0.79943	0.655000	0.94253	GCC	KIF5C	-	NULL	ENSG00000168280		0.587	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	44	0.00	0	C	NM_004522		149847639	149847639	+1	no_errors	ENST00000435030	ensembl	human	known	69_37n	missense	28	54.10	33	SNP	1.000	T
KIRREL	55243	genome.wustl.edu	37	1	158057581	158057581	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:158057581C>T	ENST00000359209.6	+	6	765	c.698C>T	c.(697-699)aCg>aTg	p.T233M	KIRREL_ENST00000416935.2_Missense_Mutation_p.T133M|KIRREL_ENST00000360089.4_Missense_Mutation_p.T69M|KIRREL_ENST00000392272.2_Missense_Mutation_p.T130M|KIRREL_ENST00000368173.3_Missense_Mutation_p.T233M|KIRREL_ENST00000368172.1_Missense_Mutation_p.T31M			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	233	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.T233R(2)|p.T69R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GAGCCACAGACGGTGCAGGAG	0.577											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											3	Substitution - Missense(3)	kidney(3)											80.0	63.0	69.0					1																	158057581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.698C>T	1.37:g.158057581C>T	ENSP00000352138:p.Thr233Met	1790	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T233M	ENST00000359209.6	37	c.698	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021551	0.93462	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58	5.62	5.62	0.85841	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000444	T	0.34890	0.0913	M	0.85630	2.765	0.58432	D	0.999994	D;D;D;D	0.89917	0.994;0.997;1.0;1.0	D;D;D;D	0.73708	0.948;0.981;0.971;0.971	T	0.15321	-1.0441	10	0.56958	D	0.05	-15.1113	17.1484	0.86772	0.0:1.0:0.0:0.0	.	133;69;31;233	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	M	69;233;130;233;133;31	ENSP00000353202:T69M;ENSP00000357155:T233M;ENSP00000376098:T130M;ENSP00000352138:T233M;ENSP00000389674:T133M;ENSP00000357154:T31M	ENSP00000352138:T233M	T	+	2	0	KIRREL	156324205	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	7.335000	0.79234	2.644000	0.89710	0.563000	0.77884	ACG	KIRREL	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000183853		0.577	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	73	0.00	0	C	NM_018240		158057581	158057581	+1	no_errors	ENST00000368173	ensembl	human	known	69_37n	missense	98	21.60	27	SNP	1.000	T
KLC1	3831	genome.wustl.edu	37	14	104145728	104145728	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:104145728A>G	ENST00000348520.6	+	13	1815	c.1496A>G	c.(1495-1497)gAc>gGc	p.D499G	RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.D671G|KLC1_ENST00000555836.1_Missense_Mutation_p.D499G|KLC1_ENST00000557575.1_Missense_Mutation_p.D499G|KLC1_ENST00000557450.1_Missense_Mutation_p.D499G|KLC1_ENST00000445352.4_Missense_Mutation_p.D497G|KLC1_ENST00000246489.7_Missense_Mutation_p.D499G|KLC1_ENST00000347839.6_Missense_Mutation_p.D499G|RP11-894P9.1_ENST00000498989.2_RNA|KLC1_ENST00000554280.1_Missense_Mutation_p.D499G|KLC1_ENST00000389744.4_Missense_Mutation_p.D499G|KLC1_ENST00000452929.2_Missense_Mutation_p.D499G|KLC1_ENST00000553286.1_Missense_Mutation_p.D499G|KLC1_ENST00000334553.6_Missense_Mutation_p.D499G|KLC1_ENST00000380038.3_Missense_Mutation_p.D524G	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	499					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				CAGGGTCTTGACAATGTTCAC	0.458																																						dbGAP											0													107.0	99.0	102.0					14																	104145728		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.1496A>G	14.37:g.104145728A>G	ENSP00000341154:p.Asp499Gly		A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.D499G	ENST00000348520.6	37	c.1496	CCDS41996.1	14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	26.3|26.3|26.3	4.728214|4.728214|4.728214	0.89390|0.89390|0.89390	.|.|.	.|.|.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500|ENSG00000126214|ENSG00000126214	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726|ENST00000553325;ENST00000553436;ENST00000555856|ENST00000537046	D;D;D;D;D;D;D;D;D;D;D;D;D;T|.|.	0.95588|.|.	-1.69;-3.75;-1.67;-1.64;-1.67;-1.64;-1.65;-1.51;-1.5;-2.27;-1.67;-1.7;-2.24;-0.74|.|.	5.94|5.94|5.94	5.94|5.94|5.94	0.96194|0.96194|0.96194	.|.|.	0.047324|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.75576|0.75576|.	0.3868|0.3868|.	M|M|M	0.74258|0.74258|0.74258	2.255|2.255|2.255	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;P;B;B;D;B|.|.	0.76494|.|.	0.987;0.999;0.51;0.282;0.135;0.997;0.282|.|.	P;D;P;B;B;D;B|.|.	0.79108|.|.	0.756;0.972;0.479;0.22;0.222;0.992;0.278|.|.	T|T|.	0.75593|0.75593|.	-0.3264|-0.3264|.	10|5|.	0.02654|.|.	T|.|.	1|.|.	-25.8955|-25.8955|-25.8955	16.4075|16.4075|16.4075	0.83691|0.83691|0.83691	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	499;524;671;499;499;499;497|.|.	F8VTM4;F8W6L3;E7EVH7;Q07866-4;Q07866-6;Q07866;G5E9S8|.|.	.;.;.;.;.;KLC1_HUMAN;.|.|.	G|A|W	499;499;524;499;499;499;499;499;499;499;499;499;499;497;671|79;75;98|129	ENSP00000341154:D499G;ENSP00000369377:D524G;ENSP00000374394:D499G;ENSP00000450617:D499G;ENSP00000452487:D499G;ENSP00000334618:D499G;ENSP00000452481:D499G;ENSP00000334523:D499G;ENSP00000246489:D499G;ENSP00000450648:D499G;ENSP00000451242:D499G;ENSP00000414982:D499G;ENSP00000412693:D497G;ENSP00000439065:D671G|.|.	ENSP00000246489:D499G|.|.	D|T|X	+|+|+	2|1|3	0|0|0	KLC1;RP11-73M18.2|KLC1|KLC1	103215481|103215481|103215481	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	9.262000|9.262000|9.262000	0.95591|0.95591|0.95591	2.275000|2.275000|2.275000	0.75901|0.75901|0.75901	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	GAC|ACA|TGA	KLC1	-	NULL	ENSG00000126214		0.458	KLC1-001	KNOWN	basic|CCDS	protein_coding	KLC1	HGNC	protein_coding	OTTHUMT00000402947.2	56	0.00	0	A	NM_005552		104145728	104145728	+1	no_errors	ENST00000334553	ensembl	human	known	69_37n	missense	64	15.58	12	SNP	1.000	G
KLC2	64837	genome.wustl.edu	37	11	66031617	66031617	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:66031617G>A	ENST00000417856.1	+	8	1286	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q	KLC2_ENST00000421552.1_Missense_Mutation_p.R271Q|KLC2_ENST00000394067.2_Missense_Mutation_p.R348Q|RP11-867G23.1_ENST00000530805.1_RNA|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000316924.5_Missense_Mutation_p.R348Q|KLC2_ENST00000394065.2_Missense_Mutation_p.R209Q|KLC2_ENST00000394066.2_Missense_Mutation_p.R271Q|KLC2_ENST00000394078.1_Intron	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	348					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TATTACTATCGGCGGGCACTG	0.587																																						dbGAP											0													26.0	23.0	24.0					11																	66031617		2200	4294	6494	-	-	-	SO:0001583	missense	0			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1043G>A	11.37:g.66031617G>A	ENSP00000399403:p.Arg348Gln		A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.R348Q	ENST00000417856.1	37	c.1043	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	G	5.316	0.243585	0.10077	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	D;D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29;-3.29	4.23	4.23	0.50019	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.084820	0.45361	D	0.000370	T	0.80292	0.4596	N	0.16478	0.41	0.41829	D	0.990068	P;B;B	0.35872	0.525;0.171;0.087	B;B;B	0.15870	0.014;0.004;0.01	T	0.80498	-0.1356	10	0.02654	T	1	-25.8792	9.3597	0.38188	0.1004:0.0:0.8996:0.0	.	209;271;348	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	Q	348;348;348;271;271;209	ENSP00000399403:R348Q;ENSP00000377631:R348Q;ENSP00000314837:R348Q;ENSP00000408484:R271Q;ENSP00000377630:R271Q;ENSP00000377629:R209Q	ENSP00000314837:R348Q	R	+	2	0	KLC2	65788193	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	3.225000	0.51246	2.207000	0.71202	0.555000	0.69702	CGG	KLC2	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000174996		0.587	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	24	0.00	0	G	NM_022822		66031617	66031617	+1	no_errors	ENST00000316924	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	1.000	A
OPN3	23596	genome.wustl.edu	37	1	241755385	241755385	+	IGR	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:241755385G>A	ENST00000366554.2	-	0	2620				KMO_ENST00000366558.3_Missense_Mutation_p.R451Q|KMO_ENST00000366557.4_Missense_Mutation_p.R430Q|OPN3_ENST00000469376.1_5'Flank|KMO_ENST00000366559.4_Missense_Mutation_p.R464Q	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GCTCACTTCCGGAATACAACA	0.453																																						dbGAP											0													131.0	111.0	118.0					1																	241755385		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241755385G>A			Q8IX08|Q9Y344	Missense_Mutation	SNP	pfam_mOase_FAD-bd,prints_Rng_hydrolase-like	p.R464Q	ENST00000366554.2	37	c.1391	CCDS31072.1	1	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154421	0.21371	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.44482	0.93;0.95;0.92	5.4	-4.94	0.03057	.	0.820851	0.11973	N	0.511587	T	0.16854	0.0405	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28106	-1.0054	10	0.17369	T	0.5	.	14.7869	0.69810	0.2104:0.0:0.7896:0.0	.	464	O15229	KMO_HUMAN	Q	464;451;430	ENSP00000355517:R464Q;ENSP00000355516:R451Q;ENSP00000355515:R430Q	ENSP00000355515:R430Q	R	+	2	0	KMO	239822008	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.267000	0.18552	-0.846000	0.04174	-0.157000	0.13467	CGG	KMO	-	NULL	ENSG00000117009		0.453	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMO	HGNC	protein_coding	OTTHUMT00000095713.1	95	0.00	0	G	NM_014322		241755385	241755385	+1	no_errors	ENST00000366559	ensembl	human	known	69_37n	missense	80	15.79	15	SNP	0.000	A
LAMA3	3909	genome.wustl.edu	37	18	21422391	21422391	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr18:21422391C>A	ENST00000313654.9	+	28	3610	c.3369C>A	c.(3367-3369)caC>caA	p.H1123Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.H1123Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1123	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GTGTACCACACCTGGGCCGAT	0.512																																						dbGAP											0													104.0	104.0	104.0					18																	21422391		1968	4133	6101	-	-	-	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3369C>A	18.37:g.21422391C>A	ENSP00000324532:p.His1123Gln		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.H1123Q	ENST00000313654.9	37	c.3369	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	C	2.327	-0.354329	0.05173	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.16897	2.32;2.31	5.46	1.61	0.23674	.	.	.	.	.	T	0.13500	0.0327	L	0.46157	1.445	0.09310	N	1	B;B	0.24426	0.103;0.083	B;B	0.21917	0.033;0.037	T	0.30327	-0.9982	9	0.29301	T	0.29	.	5.3823	0.16197	0.0:0.513:0.1353:0.3517	.	1123;1123	Q6VU67;Q16787	.;LAMA3_HUMAN	Q	1123;1123;1121	ENSP00000324532:H1123Q;ENSP00000382432:H1123Q	ENSP00000324532:H1123Q	H	+	3	2	LAMA3	19676389	0.000000	0.05858	0.004000	0.12327	0.433000	0.31745	-0.582000	0.05814	0.270000	0.21984	0.655000	0.94253	CAC	LAMA3	-	NULL	ENSG00000053747		0.512	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	58	0.00	0	C	NM_000227, NM_198129		21422391	21422391	+1	no_errors	ENST00000313654	ensembl	human	known	69_37n	missense	74	23.71	23	SNP	0.005	A
LAMC2	3918	genome.wustl.edu	37	1	183204803	183204803	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:183204803T>A	ENST00000264144.4	+	16	2459	c.2394T>A	c.(2392-2394)caT>caA	p.H798Q	LAMC2_ENST00000493293.1_Missense_Mutation_p.H798Q	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	798	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGGCCCTGCATGAAGGAGTCG	0.557											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													100.0	88.0	92.0					1																	183204803		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2394T>A	1.37:g.183204803T>A	ENSP00000264144:p.His798Gln	1982	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.H798Q	ENST00000264144.4	37	c.2394	CCDS1352.1	1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.743651	0.30865	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.15372	2.58;2.43	5.84	-7.81	0.01210	.	0.955599	0.08796	N	0.892552	T	0.04227	0.0117	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45116	-0.9283	10	0.10902	T	0.67	.	8.0922	0.30807	0.0:0.2899:0.3956:0.3145	.	798;798;798	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	Q	798	ENSP00000432063:H798Q;ENSP00000264144:H798Q	ENSP00000264144:H798Q	H	+	3	2	LAMC2	181471426	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.405000	0.01045	-1.166000	0.02783	-0.248000	0.11899	CAT	LAMC2	-	NULL	ENSG00000058085		0.557	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	HGNC	protein_coding	OTTHUMT00000086258.1	82	0.00	0	T	NM_005562		183204803	183204803	+1	no_errors	ENST00000264144	ensembl	human	known	69_37n	missense	88	33.33	44	SNP	0.000	A
LANCL3	347404	genome.wustl.edu	37	X	37515047	37515047	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:37515047A>G	ENST00000378619.3	+	2	899	c.680A>G	c.(679-681)tAt>tGt	p.Y227C	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378621.3_Missense_Mutation_p.Y227C	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	227							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						TATTCTTACTATGGAACCGAA	0.423																																						dbGAP											0													117.0	96.0	103.0					X																	37515047		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.680A>G	X.37:g.37515047A>G	ENSP00000367882:p.Tyr227Cys		A6NHE3	Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like,prints_LanC-like_prot_euk	p.Y227C	ENST00000378619.3	37	c.680	CCDS55398.1	X	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854206	0.71719	.	.	ENSG00000147036	ENST00000378621;ENST00000378619	T;T	0.46451	0.87;0.87	5.32	5.32	0.75619	Six-hairpin glycosidase-like (1);	0.137031	0.50627	D	0.000113	T	0.62865	0.2463	M	0.76574	2.34	0.58432	D	0.999999	D;D	0.69078	0.994;0.997	D;P	0.67900	0.954;0.847	T	0.65981	-0.6036	10	0.52906	T	0.07	-9.0975	14.3732	0.66854	1.0:0.0:0.0:0.0	.	227;227	Q6ZV70;Q6ZV70-2	LANC3_HUMAN;.	C	227	ENSP00000367885:Y227C;ENSP00000367882:Y227C	ENSP00000367882:Y227C	Y	+	2	0	LANCL3	37399966	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.782000	0.85680	1.970000	0.57323	0.481000	0.45027	TAT	LANCL3	-	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk	ENSG00000147036		0.423	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LANCL3	HGNC	protein_coding	OTTHUMT00000080885.1	126	0.79	1	A	NM_198511		37515047	37515047	+1	no_errors	ENST00000378619	ensembl	human	known	69_37n	missense	103	18.25	23	SNP	1.000	G
LCMT2	9836	genome.wustl.edu	37	15	43621138	43621138	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:43621138C>A	ENST00000305641.5	-	1	1665	c.1550G>T	c.(1549-1551)gGg>gTg	p.G517V	ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000544735.1_Missense_Mutation_p.G96V	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	517					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AGCCATTGTCCCTACATGGAG	0.522																																						dbGAP											0													126.0	125.0	125.0					15																	43621138		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1550G>T	15.37:g.43621138C>A	ENSP00000307214:p.Gly517Val		Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	pfam_LCM_MeTrfase	p.G517V	ENST00000305641.5	37	c.1550	CCDS10094.1	15	.	.	.	.	.	.	.	.	.	.	C	5.374	0.254274	0.10185	.	.	ENSG00000168806	ENST00000305641;ENST00000544735	T;T	0.64438	-0.1;-0.1	5.66	-5.14	0.02875	Kelch-type beta propeller (1);	1.297590	0.05089	N	0.484888	T	0.51890	0.1701	L	0.44542	1.39	0.09310	N	1	B	0.13145	0.007	B	0.15052	0.012	T	0.42207	-0.9465	10	0.30854	T	0.27	-4.7216	12.1369	0.53977	0.0:0.3741:0.0:0.6259	.	517	O60294	LCMT2_HUMAN	V	517;96	ENSP00000307214:G517V;ENSP00000442022:G96V	ENSP00000307214:G517V	G	-	2	0	LCMT2	41408430	0.037000	0.19845	0.010000	0.14722	0.525000	0.34531	-0.078000	0.11375	-0.813000	0.04357	-0.937000	0.02696	GGG	LCMT2	-	NULL	ENSG00000168806		0.522	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT2	HGNC	protein_coding	OTTHUMT00000253205.1	38	0.00	0	C	NM_014793		43621138	43621138	-1	no_errors	ENST00000305641	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	0.002	A
LGI1	9211	genome.wustl.edu	37	10	95557083	95557083	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:95557083A>T	ENST00000371418.4	+	8	1457	c.1197A>T	c.(1195-1197)ttA>ttT	p.L399F	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.L351F	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	399					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CGCCTCATTTAATTCTGTCTA	0.418																																						dbGAP											0													100.0	89.0	93.0					10																	95557083		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1197A>T	10.37:g.95557083A>T	ENSP00000360472:p.Leu399Phe		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.L399F	ENST00000371418.4	37	c.1197	CCDS7431.1	10	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459698	0.43736	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	D;D	0.84298	-1.83;-1.83	4.93	3.76	0.43208	.	0.081250	0.52532	D	0.000074	D	0.90707	0.7084	M	0.77313	2.365	0.53688	D	0.999972	D;D	0.76494	0.997;0.999	D;D	0.77557	0.94;0.99	D	0.90151	0.4221	10	0.87932	D	0	-7.957	8.9506	0.35788	0.8479:0.0:0.1521:0.0	.	351;399	O95970-3;O95970	.;LGI1_HUMAN	F	351;399	ENSP00000440763:L351F;ENSP00000360472:L399F	ENSP00000360472:L399F	L	+	3	2	LGI1	95547073	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.201000	0.42734	0.867000	0.35654	0.533000	0.62120	TTA	LGI1	-	pfam_EPTP,superfamily_WD40_repeat_dom	ENSG00000108231		0.418	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1	72	0.00	0	A	NM_005097		95557083	95557083	+1	no_errors	ENST00000371418	ensembl	human	known	69_37n	missense	65	19.75	16	SNP	1.000	T
LGI3	203190	genome.wustl.edu	37	8	22006268	22006268	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:22006268G>A	ENST00000306317.2	-	8	1341	c.1052C>T	c.(1051-1053)gCa>gTa	p.A351V	LGI3_ENST00000424267.2_Missense_Mutation_p.A327V	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	351					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GGTGGCGCCTGCCTTGGAGCT	0.627																																						dbGAP											0													71.0	56.0	61.0					8																	22006268		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1052C>T	8.37:g.22006268G>A	ENSP00000302297:p.Ala351Val		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.A351V	ENST00000306317.2	37	c.1052	CCDS6025.1	8	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588651	0.86851	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	T;T	0.69306	-0.16;-0.39	4.6	4.6	0.57074	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.79845	0.4516	M	0.69358	2.11	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.82285	-0.0533	10	0.87932	D	0	-27.2434	14.9741	0.71257	0.0:0.0:1.0:0.0	.	327;351	A5PLP2;Q8N145	.;LGI3_HUMAN	V	351;327	ENSP00000302297:A351V;ENSP00000399121:A327V	ENSP00000302297:A351V	A	-	2	0	LGI3	22062213	1.000000	0.71417	0.942000	0.38095	0.855000	0.48748	9.635000	0.98437	2.366000	0.80165	0.561000	0.74099	GCA	LGI3	-	pfam_EPTP,pfscan_EAR	ENSG00000168481		0.627	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI3	HGNC	protein_coding	OTTHUMT00000254482.1	47	0.00	0	G			22006268	22006268	-1	no_errors	ENST00000306317	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	0.999	A
LGMN	5641	genome.wustl.edu	37	14	93199028	93199028	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:93199028G>A	ENST00000393218.2	-	3	441	c.104C>T	c.(103-105)gCa>gTa	p.A35V	LGMN_ENST00000334869.4_Missense_Mutation_p.A35V|LGMN_ENST00000557434.1_Missense_Mutation_p.A35V|LGMN_ENST00000555699.1_Missense_Mutation_p.A35V	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	35					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ATTTGAACCTGCCACGATCAC	0.448																																						dbGAP											0													165.0	153.0	157.0					14																	93199028		2203	4300	6503	-	-	-	SO:0001583	missense	0			D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.104C>T	14.37:g.93199028G>A	ENSP00000376911:p.Ala35Val		O00123|Q86TV2|Q86TV3|Q9BTY1	Missense_Mutation	SNP	pfam_Peptidase_C13,prints_Peptidase_C13	p.A35V	ENST00000393218.2	37	c.104	CCDS9904.1	14	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796683	0.70567	.	.	ENSG00000100600	ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855;ENST00000553802;ENST00000554397;ENST00000554919;ENST00000554080;ENST00000553371	T;T;T;T;T;T;T;T;T	0.68624	0.62;0.58;0.65;0.58;0.71;0.65;0.65;-0.31;-0.34	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.86944	0.6055	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.999;0.98	D	0.91300	0.5066	10	0.87932	D	0	-29.5176	16.0812	0.81005	0.0:0.0:1.0:0.0	.	35;35;35	Q99538;Q86TV2;Q86TV3	LGMN_HUMAN;.;.	V	35;35;35;35;35;35;12;35;35;35;35;35;35	ENSP00000451861:A35V;ENSP00000334052:A35V;ENSP00000452572:A35V;ENSP00000376911:A35V;ENSP00000450854:A35V;ENSP00000450677:A35V;ENSP00000451916:A35V;ENSP00000452268:A35V;ENSP00000451797:A35V	ENSP00000262004:A35V	A	-	2	0	LGMN	92268781	1.000000	0.71417	0.819000	0.32651	0.325000	0.28411	7.978000	0.88095	2.086000	0.62901	0.313000	0.20887	GCA	LGMN	-	pfam_Peptidase_C13,prints_Peptidase_C13	ENSG00000100600		0.448	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LGMN	HGNC	protein_coding	OTTHUMT00000412288.1	99	1.00	1	G	NM_005606		93199028	93199028	-1	no_errors	ENST00000334869	ensembl	human	known	69_37n	missense	100	11.50	13	SNP	0.997	A
LHCGR	3973	genome.wustl.edu	37	2	48915224	48915224	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:48915224A>G	ENST00000294954.7	-	11	1733	c.1712T>C	c.(1711-1713)aTg>aCg	p.M571T	LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.M509T|LHCGR_ENST00000405626.1_Missense_Mutation_p.M544T|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	571			M -> I (in FMPP). {ECO:0000269|PubMed:8281137}.		activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GAGGATTGCCATTTTCTTAGC	0.378																																						dbGAP											0													112.0	111.0	112.0					2																	48915224		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1712T>C	2.37:g.48915224A>G	ENSP00000294954:p.Met571Thr		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt	p.M571T	ENST00000294954.7	37	c.1712	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356696	0.61293	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.36699	1.24;1.24;1.24	5.68	5.68	0.88126	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73361	0.3577	H	0.97315	3.98	0.80722	D	1	D	0.63046	0.992	D	0.75020	0.985	D	0.83584	0.0119	9	.	.	.	.	15.1242	0.72469	1.0:0.0:0.0:0.0	.	571	P22888	LSHR_HUMAN	T	509;571;544	ENSP00000344301:M509T;ENSP00000294954:M571T;ENSP00000386033:M544T	.	M	-	2	0	LHCGR	48768728	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.176000	0.68965	0.477000	0.44152	ATG	LHCGR	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000138039		0.378	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	114	0.00	0	A	NM_000233.3		48915224	48915224	-1	no_errors	ENST00000294954	ensembl	human	known	69_37n	missense	99	12.07	14	SNP	1.000	G
LHX4	89884	genome.wustl.edu	37	1	180243355	180243355	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:180243355A>G	ENST00000263726.2	+	6	1058	c.814A>G	c.(814-816)Agg>Ggg	p.R272G	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	272					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CCACACCAATAGGATTTATGG	0.502																																						dbGAP											0													95.0	91.0	92.0					1																	180243355		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.814A>G	1.37:g.180243355A>G	ENSP00000263726:p.Arg272Gly		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.R272G	ENST00000263726.2	37	c.814	CCDS1338.1	1	.	.	.	.	.	.	.	.	.	.	A	7.662	0.685172	0.14973	.	.	ENSG00000121454	ENST00000263726	D	0.87966	-2.32	5.7	5.7	0.88788	.	0.047518	0.85682	D	0.000000	T	0.58466	0.2124	N	0.00661	-1.28	0.41318	D	0.987153	B	0.02656	0.0	B	0.01281	0.0	T	0.61476	-0.7055	10	0.06494	T	0.89	.	6.1208	0.20151	0.7538:0.1646:0.0816:0.0	.	272	Q969G2	LHX4_HUMAN	G	272	ENSP00000263726:R272G	ENSP00000263726:R272G	R	+	1	2	LHX4	178509978	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.897000	0.39799	2.161000	0.67846	0.533000	0.62120	AGG	LHX4	-	NULL	ENSG00000121454		0.502	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX4	HGNC	protein_coding	OTTHUMT00000084995.2	53	0.00	0	A	NM_033343		180243355	180243355	+1	no_errors	ENST00000263726	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	1.000	G
LILRA4	23547	genome.wustl.edu	37	19	54848965	54848965	+	Missense_Mutation	SNP	C	C	T	rs543578213		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:54848965C>T	ENST00000291759.4	-	5	714	c.658G>A	c.(658-660)Gtg>Atg	p.V220M	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	220					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.V220L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TTCCTAGACACGCCTGGAGGG	0.597													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15168	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	lung(1)											23.0	26.0	25.0					19																	54848965		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.658G>A	19.37:g.54848965C>T	ENSP00000291759:p.Val220Met		Q32MC4	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.V220M	ENST00000291759.4	37	c.658	CCDS12890.1	19	.	.	.	.	.	.	.	.	.	.	.	10.50	1.367138	0.24771	.	.	ENSG00000239961	ENST00000291759	T	0.00502	6.95	2.4	-0.475	0.12104	Immunoglobulin-like fold (1);	2.233710	0.02402	N	0.080729	T	0.01189	0.0039	M	0.79123	2.44	0.09310	N	1	D	0.60160	0.987	P	0.51895	0.683	T	0.49153	-0.8969	10	0.72032	D	0.01	.	8.6898	0.34260	0.0:0.3889:0.6111:0.0	.	220	P59901	LIRA4_HUMAN	M	220	ENSP00000291759:V220M	ENSP00000291759:V220M	V	-	1	0	LILRA4	59540777	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-1.847000	0.01675	0.004000	0.14682	0.455000	0.32223	GTG	LILRA4	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000239961		0.597	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	HGNC	protein_coding	OTTHUMT00000140229.2	41	0.00	0	C	NM_012276		54848965	54848965	-1	no_errors	ENST00000291759	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.000	T
LMAN1	3998	genome.wustl.edu	37	18	57013194	57013194	+	Frame_Shift_Del	DEL	T	T	-	rs553350987		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr18:57013194delT	ENST00000251047.5	-	8	1629	c.912delA	c.(910-912)aaafs	p.K304fs	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	304					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGAATTCCTCTTTTTTTTTAT	0.453																																						dbGAP											0													138.0	139.0	139.0					18																	57013194		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.912delA	18.37:g.57013194delT	ENSP00000251047:p.Lys304fs		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Frame_Shift_Del	DEL	pfam_Lectin_leg,superfamily_ConA-like_lec_gl,superfamily_HMG_superfamily	p.E305fs	ENST00000251047.5	37	c.912	CCDS11974.1	18																																																																																			LMAN1	-	superfamily_HMG_superfamily	ENSG00000074695		0.453	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2	260	0.00	0	T	NM_005570		57013194	57013194	-1	no_errors	ENST00000251047	ensembl	human	known	69_37n	frame_shift_del	168	19.52	41	DEL	0.898	-
LONRF2	164832	genome.wustl.edu	37	2	100925592	100925592	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:100925592G>C	ENST00000393437.3	-	2	1414	c.775C>G	c.(775-777)Cag>Gag	p.Q259E	LONRF2_ENST00000409647.1_Missense_Mutation_p.Q16E	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	259							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGTTCATTCTGACAAGCTGCA	0.353																																						dbGAP											0													97.0	96.0	96.0					2																	100925592		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.775C>G	2.37:g.100925592G>C	ENSP00000377086:p.Gln259Glu		B9A006|Q6ZSR4	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.Q259E	ENST00000393437.3	37	c.775	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	G	9.037	0.988697	0.18966	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.58210	0.35;1.39	4.91	2.86	0.33363	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.271427	0.30003	N	0.010653	T	0.33000	0.0848	N	0.11927	0.2	0.26317	N	0.977738	P	0.39216	0.664	B	0.43082	0.407	T	0.19063	-1.0317	10	0.11485	T	0.65	-11.6177	9.0558	0.36405	0.0867:0.0:0.757:0.1563	.	259	Q1L5Z9	LONF2_HUMAN	E	259;16	ENSP00000377086:Q259E;ENSP00000386823:Q16E	ENSP00000377086:Q259E	Q	-	1	0	LONRF2	100292024	1.000000	0.71417	0.902000	0.35471	0.051000	0.14879	1.534000	0.36051	1.051000	0.40369	0.655000	0.94253	CAG	LONRF2	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000170500		0.353	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2	114	0.00	0	G	NM_198461		100925592	100925592	-1	no_errors	ENST00000393437	ensembl	human	known	69_37n	missense	39	55.17	48	SNP	0.866	C
PLPPR5	163404	genome.wustl.edu	37	1	99422292	99422292	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:99422292T>C	ENST00000263177.4	-	2	464	c.243A>G	c.(241-243)atA>atG	p.I81M	LPPR5_ENST00000370188.3_Missense_Mutation_p.I81M	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		81						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										TTTCTCCAACTATTATCTTGA	0.299																																						dbGAP											0													51.0	55.0	54.0					1																	99422292		2202	4300	6502	-	-	-	SO:0001583	missense	0																														ENST00000263177.4:c.243A>G	1.37:g.99422292T>C	ENSP00000263177:p.Ile81Met		A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.I81M	ENST00000263177.4	37	c.243	CCDS30778.1	1	.	.	.	.	.	.	.	.	.	.	T	7.016	0.557765	0.13436	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.32988	1.44;1.43	4.74	3.58	0.41010	.	0.207615	0.39615	N	0.001316	T	0.05640	0.0148	N	0.11560	0.145	0.34765	D	0.73315	B;B	0.17465	0.022;0.013	B;B	0.18561	0.022;0.01	T	0.26467	-1.0102	10	0.14252	T	0.57	.	10.8327	0.46669	0.0:0.0:0.4647:0.5353	.	81;81	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	M	81	ENSP00000359207:I81M;ENSP00000263177:I81M	ENSP00000263177:I81M	I	-	3	3	AL161744.1	99194880	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	0.349000	0.20055	0.736000	0.32559	0.482000	0.46254	ATA	LPPR5	-	superfamily_P_Acid_Pase_2/haloperoxidase	ENSG00000117598		0.299	LPPR5-002	KNOWN	basic|CCDS	protein_coding	LPPR5	Clone_based_vega_gene	protein_coding	OTTHUMT00000393221.1	73	0.00	0	T			99422292	99422292	-1	no_errors	ENST00000263177	ensembl	human	known	69_37n	missense	67	16.25	13	SNP	1.000	C
PLPPR4	9890	genome.wustl.edu	37	1	99767348	99767348	+	Silent	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:99767348C>A	ENST00000370185.3	+	6	1358	c.861C>A	c.(859-861)atC>atA	p.I287I	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Silent_p.I129I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		287					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCACATTTATCATCTGTGGAA	0.383																																						dbGAP											0													140.0	135.0	137.0					1																	99767348		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000370185.3:c.861C>A	1.37:g.99767348C>A			E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.I287	ENST00000370185.3	37	c.861	CCDS757.1	1																																																																																			RP4-788L13.1	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000117600		0.383	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Clone_based_vega_gene	protein_coding	OTTHUMT00000029670.2	192	0.00	0	C			99767348	99767348	+1	no_errors	ENST00000370185	ensembl	human	known	69_37n	silent	144	16.28	28	SNP	1.000	A
LRP1	4035	genome.wustl.edu	37	12	57578941	57578941	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:57578941G>A	ENST00000243077.3	+	40	6882	c.6416G>A	c.(6415-6417)gGc>gAc	p.G2139D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2139					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCGGCATCGGCGTCCAGCTT	0.617																																						dbGAP											0													68.0	70.0	69.0					12																	57578941		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6416G>A	12.37:g.57578941G>A	ENSP00000243077:p.Gly2139Asp		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G2139D	ENST00000243077.3	37	c.6416	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062711	0.76187	.	.	ENSG00000123384	ENST00000243077	D	0.91295	-2.82	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.90321	0.6972	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85181	0.1004	10	0.02654	T	1	.	17.7439	0.88414	0.0:0.0:1.0:0.0	.	2139	Q07954	LRP1_HUMAN	D	2139	ENSP00000243077:G2139D	ENSP00000243077:G2139D	G	+	2	0	LRP1	55865208	1.000000	0.71417	0.222000	0.23844	0.120000	0.20174	9.869000	0.99810	2.489000	0.83994	0.491000	0.48974	GGC	LRP1	-	NULL	ENSG00000123384		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	65	0.00	0	G	NM_002332		57578941	57578941	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	missense	41	25.45	14	SNP	0.997	A
LRP2	4036	genome.wustl.edu	37	2	170127436	170127436	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:170127436delA	ENST00000263816.3	-	16	2583	c.2298delT	c.(2296-2298)tttfs	p.F766fs	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	766					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCTTTTGCTTAAAAATCATGT	0.388																																						dbGAP											0													96.0	94.0	95.0					2																	170127436		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2298delT	2.37:g.170127436delA	ENSP00000263816:p.Phe766fs		O00711|Q16215	Frame_Shift_Del	DEL	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.F766fs	ENST00000263816.3	37	c.2298	CCDS2232.1	2																																																																																			LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	107	0.00	0	A	NM_004525		170127436	170127436	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	frame_shift_del	87	19.82	22	DEL	0.952	-
LRP2	4036	genome.wustl.edu	37	2	170129568	170129568	+	Missense_Mutation	SNP	G	G	A	rs543102321		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:170129568G>A	ENST00000263816.3	-	15	2270	c.1985C>T	c.(1984-1986)cCg>cTg	p.P662L	LRP2_ENST00000443831.1_Missense_Mutation_p.P593L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	662	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATCTTTACACGGATTGGTAGC	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21760	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													115.0	112.0	113.0					2																	170129568		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1985C>T	2.37:g.170129568G>A	ENSP00000263816:p.Pro662Leu		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.P662L	ENST00000263816.3	37	c.1985	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711805	0.89112	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95554	-2.91;-3.74	5.38	5.38	0.77491	Six-bladed beta-propeller, TolB-like (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.97632	0.9224	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98115	1.0422	10	0.87932	D	0	.	19.4958	0.95072	0.0:0.0:1.0:0.0	.	593;662	E9PC35;P98164	.;LRP2_HUMAN	L	662;593	ENSP00000263816:P662L;ENSP00000409813:P593L	ENSP00000263816:P662L	P	-	2	0	LRP2	169837814	1.000000	0.71417	0.483000	0.27378	0.025000	0.11179	9.751000	0.98889	2.681000	0.91329	0.650000	0.86243	CCG	LRP2	-	smart_EGF-like	ENSG00000081479		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	78	0.00	0	G	NM_004525		170129568	170129568	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	88	11.00	11	SNP	1.000	A
LRRC20	55222	genome.wustl.edu	37	10	72061216	72061216	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:72061216T>A	ENST00000355790.4	-	5	926	c.449A>T	c.(448-450)aAc>aTc	p.N150I	LRRC20_ENST00000358141.2_Missense_Mutation_p.N100I|LRRC20_ENST00000373224.1_Missense_Mutation_p.N150I|LRRC20_ENST00000395010.1_Missense_Mutation_p.N94I|LRRC20_ENST00000395011.1_Missense_Mutation_p.N100I	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	150										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GAAGCGGAGGTTGATGCTGCG	0.602																																						dbGAP											0													125.0	120.0	122.0					10																	72061216		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.449A>T	10.37:g.72061216T>A	ENSP00000348043:p.Asn150Ile		Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N150I	ENST00000355790.4	37	c.449	CCDS7302.1	10	.	.	.	.	.	.	.	.	.	.	T	20.9	4.066640	0.76301	.	.	ENSG00000172731	ENST00000373224;ENST00000355790;ENST00000395011;ENST00000395010;ENST00000358141;ENST00000357631;ENST00000446961	T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.56;0.18;0.56;0.18	5.55	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.73372	2.23	0.53688	D	0.999971	P;D;D	0.89917	0.899;1.0;0.999	B;D;D	0.91635	0.367;0.999;0.998	T	0.66748	-0.5845	10	0.26408	T	0.33	-25.9823	8.233	0.31610	0.0:0.0903:0.0:0.9097	.	100;94;150	Q8TCA0-2;Q8TCA0-3;Q8TCA0	.;.;LRC20_HUMAN	I	150;150;100;94;100;94;150	ENSP00000362321:N150I;ENSP00000348043:N150I;ENSP00000378458:N100I;ENSP00000378457:N94I;ENSP00000350860:N100I;ENSP00000350255:N94I;ENSP00000413745:N150I	ENSP00000348043:N150I	N	-	2	0	LRRC20	71731222	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.051000	0.57412	0.944000	0.37579	0.533000	0.62120	AAC	LRRC20	-	NULL	ENSG00000172731		0.602	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC20	HGNC	protein_coding	OTTHUMT00000048510.1	40	0.00	0	T	NM_018239		72061216	72061216	-1	no_errors	ENST00000355790	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	1.000	A
LRRC37A3	374819	genome.wustl.edu	37	17	62855849	62855849	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:62855849T>A	ENST00000584306.1	-	11	4945	c.4415A>T	c.(4414-4416)cAg>cTg	p.Q1472L	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.Q1472L|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.Q590L|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.Q449L|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.Q510L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1472						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AATTTCAAACTGATCACCTGG	0.488																																						dbGAP											0													175.0	181.0	179.0					17																	62855849		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4415A>T	17.37:g.62855849T>A	ENSP00000464535:p.Gln1472Leu		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q1472L	ENST00000584306.1	37	c.4415	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	12.16	1.855881	0.32791	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.54866	0.55;0.55;0.55	2.57	0.0342	0.14182	.	.	.	.	.	T	0.57533	0.2060	L	0.59436	1.845	0.09310	N	1	D;P	0.71674	0.998;0.851	P;P	0.61722	0.893;0.838	T	0.47995	-0.9073	9	0.87932	D	0	.	2.1049	0.03688	0.2551:0.1592:0.0:0.5857	.	590;1472	B4DG20;O60309	.;L37A3_HUMAN	L	553;510;449;1472	ENSP00000383674:Q510L;ENSP00000335617:Q449L;ENSP00000325713:Q1472L	ENSP00000325713:Q1472L	Q	-	2	0	LRRC37A3	60286311	0.000000	0.05858	0.004000	0.12327	0.030000	0.12068	0.066000	0.14489	-0.143000	0.11334	0.155000	0.16302	CAG	LRRC37A3	-	NULL	ENSG00000176809		0.488	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	277	0.00	0	T	NM_199340		62855849	62855849	-1	no_errors	ENST00000319651	ensembl	human	known	69_37n	missense	458	11.92	62	SNP	0.003	A
LRRC8D	55144	genome.wustl.edu	37	1	90400731	90400731	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:90400731A>G	ENST00000337338.5	+	3	2511	c.2104A>G	c.(2104-2106)Att>Gtt	p.I702V	LRRC8D_ENST00000394593.3_Missense_Mutation_p.I702V	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	702					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCCTCCCTCTATTACCCATGT	0.348																																						dbGAP											0													63.0	68.0	66.0					1																	90400731		2201	4300	6501	-	-	-	SO:0001583	missense	0			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2104A>G	1.37:g.90400731A>G	ENSP00000338887:p.Ile702Val		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I702V	ENST00000337338.5	37	c.2104	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691781	0.48097	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.26223	1.75;1.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.22551	0.0544	L	0.33624	1.015	0.80722	D	1	P	0.46578	0.88	P	0.53809	0.735	T	0.01269	-1.1400	9	.	.	.	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	702	Q7L1W4	LRC8D_HUMAN	V	702	ENSP00000338887:I702V;ENSP00000378093:I702V	.	I	+	1	0	LRRC8D	90173319	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	ATT	LRRC8D	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000171492		0.348	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	59	0.00	0	A	NM_018103		90400731	90400731	+1	no_errors	ENST00000337338	ensembl	human	known	69_37n	missense	45	16.67	9	SNP	1.000	G
LRRD1	401387	genome.wustl.edu	37	7	91793084	91793084	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:91793084T>C	ENST00000458448.1	-	2	1633	c.1433A>G	c.(1432-1434)tAt>tGt	p.Y478C	LRRD1_ENST00000343318.5_Intron|CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000454089.2_5'UTR|LRRD1_ENST00000422722.1_Intron|LRRD1_ENST00000430130.2_Missense_Mutation_p.Y478C			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	478					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						CAATGGAAAATACATTATTTT	0.264																																						dbGAP											0													37.0	30.0	32.0					7																	91793084		692	1569	2261	-	-	-	SO:0001583	missense	0			BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.1433A>G	7.37:g.91793084T>C	ENSP00000405987:p.Tyr478Cys		B7ZMM9|Q49AT9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death	p.Y478C	ENST00000458448.1	37	c.1433	CCDS55124.1	7	.	.	.	.	.	.	.	.	.	.	T	11.07	1.529429	0.27387	.	.	ENSG00000240720	ENST00000458448;ENST00000430130	T;T	0.24723	1.84;1.84	5.5	4.3	0.51218	.	.	.	.	.	T	0.19005	0.0456	N	0.20445	0.575	0.58432	D	0.99999	D	0.59357	0.985	P	0.46796	0.527	T	0.01208	-1.1418	9	0.44086	T	0.13	.	8.2072	0.31463	0.1318:0.0:0.1376:0.7306	.	478	A4D1F6	LRRD1_HUMAN	C	478	ENSP00000405987:Y478C;ENSP00000411568:Y478C	ENSP00000411568:Y478C	Y	-	2	0	LRRD1	91631020	0.112000	0.22096	0.915000	0.36163	0.867000	0.49689	0.702000	0.25631	2.081000	0.62600	0.477000	0.44152	TAT	LRRD1	-	NULL	ENSG00000240720		0.264	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRD1	HGNC	protein_coding	OTTHUMT00000342027.2	68	0.00	0	T	NM_001045475		91793084	91793084	-1	no_errors	ENST00000430130	ensembl	human	known	69_37n	missense	65	17.72	14	SNP	0.698	C
LRRIQ3	127255	genome.wustl.edu	37	1	74575160	74575160	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:74575160T>A	ENST00000395089.1	-	4	784	c.785A>T	c.(784-786)aAa>aTa	p.K262I	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.K262I|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.K154I|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	262										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCATACCCTTTGGTTATGTA	0.318																																						dbGAP											0													117.0	95.0	102.0					1																	74575160		1788	4051	5839	-	-	-	SO:0001583	missense	0			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.785A>T	1.37:g.74575160T>A	ENSP00000378524:p.Lys262Ile		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.K262I	ENST00000395089.1	37	c.785	CCDS41350.1	1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414421	0.42817	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972	T;T;T	0.37411	2.77;2.77;1.2	3.83	-1.37	0.09056	.	.	.	.	.	T	0.11452	0.0279	L	0.44542	1.39	0.09310	N	1	B	0.34015	0.435	B	0.34385	0.181	T	0.26189	-1.0110	9	0.72032	D	0.01	.	4.4032	0.11397	0.0:0.4504:0.2052:0.3444	.	262	A6PVS8	LRIQ3_HUMAN	I	262;262;154;262	ENSP00000378524:K262I;ENSP00000346414:K262I;ENSP00000359946:K154I	ENSP00000346414:K262I	K	-	2	0	LRRIQ3	74347748	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-0.353000	0.07691	-0.229000	0.09854	-1.295000	0.01343	AAA	LRRIQ3	-	NULL	ENSG00000162620		0.318	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1	277	0.00	0	T	NM_145258		74575160	74575160	-1	no_errors	ENST00000354431	ensembl	human	known	69_37n	missense	181	19.91	45	SNP	0.000	A
LRRK2	120892	genome.wustl.edu	37	12	40704388	40704388	+	Silent	SNP	C	C	G	rs144754773		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:40704388C>G	ENST00000298910.7	+	31	4531	c.4473C>G	c.(4471-4473)acC>acG	p.T1491T		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1491	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				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)				TGAATGCCACCGAGGAATCTG	0.428																																						dbGAP											0													196.0	191.0	192.0					12																	40704388		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.4473C>G	12.37:g.40704388C>G			A6NJU2|Q6ZS50|Q8NCX9	Silent	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.T1491	ENST00000298910.7	37	c.4473	CCDS31774.1	12																																																																																			LRRK2	-	smart_Small_GTPase_Rab_type	ENSG00000188906		0.428	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	93	0.00	0	C	XM_058513		40704388	40704388	+1	no_errors	ENST00000298910	ensembl	human	known	69_37n	silent	71	40.34	48	SNP	0.004	G
LRRTM1	347730	genome.wustl.edu	37	2	80530409	80530409	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:80530409C>T	ENST00000295057.3	-	2	1192	c.536G>A	c.(535-537)cGc>cAc	p.R179H	LRRTM1_ENST00000409148.1_Missense_Mutation_p.R179H|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	179					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTGGAAGATGCGCACGGGCAC	0.597										HNSCC(69;0.2)																												dbGAP											0													59.0	64.0	62.0					2																	80530409		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.536G>A	2.37:g.80530409C>T	ENSP00000295057:p.Arg179His		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R179H	ENST00000295057.3	37	c.536	CCDS1966.1	2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142755	0.77888	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811	T;T;T;T	0.79940	-1.32;-1.32;4.28;4.28	4.57	4.57	0.56435	.	0.000000	0.85682	U	0.000000	T	0.81819	0.4903	N	0.16478	0.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81441	-0.0931	9	.	.	.	.	17.3352	0.87278	0.0:1.0:0.0:0.0	.	179	Q86UE6	LRRT1_HUMAN	H	179	ENSP00000295057:R179H;ENSP00000386646:R179H;ENSP00000415368:R179H;ENSP00000389473:R179H	.	R	-	2	0	LRRTM1	80383920	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.056000	0.61249	0.591000	0.81541	CGC	LRRTM1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000162951		0.597	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	63	0.00	0	C	NM_178839		80530409	80530409	-1	no_errors	ENST00000295057	ensembl	human	known	69_37n	missense	115	14.18	19	SNP	1.000	T
LSS	4047	genome.wustl.edu	37	21	47611798	47611798	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr21:47611798C>T	ENST00000397728.3	-	21	2142	c.2064G>A	c.(2062-2064)ccG>ccA	p.P688P	LSS_ENST00000522411.1_Silent_p.P677P|AP001468.58_ENST00000415026.1_RNA|LSS_ENST00000356396.4_Silent_p.P688P|LSS_ENST00000457828.2_Silent_p.P608P	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	688			P -> L (in dbSNP:rs17293705).		cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGCATACCTGCGGCCAGTCGC	0.602																																					Pancreas(114;955 2313 34923 50507)	dbGAP											0													99.0	72.0	81.0					21																	47611798		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.2064G>A	21.37:g.47611798C>T			B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	superfamily_Terpenoid_cyclase/PrenylTrfase	p.A56T	ENST00000397728.3	37	c.166	CCDS13733.1	21	.	.	.	.	.	.	.	.	.	.	C	8.229	0.804149	0.16467	.	.	ENSG00000160285	ENST00000419093	.	.	.	5.61	-2.44	0.06502	.	.	.	.	.	T	0.40067	0.1102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29882	-0.9997	4	.	.	.	.	2.5757	0.04806	0.3731:0.1977:0.3317:0.0976	.	.	.	.	T	56	.	.	A	-	1	0	LSS	46436226	0.104000	0.21937	0.990000	0.47175	0.627000	0.37826	-0.604000	0.05667	-0.334000	0.08463	-0.265000	0.10407	GCA	LSS	-	superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000160285		0.602	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	HGNC	protein_coding	OTTHUMT00000207274.2	78	0.00	0	C			47611798	47611798	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000419093	ensembl	human	putative	69_37n	missense	64	16.88	13	SNP	0.795	T
LTBP1	4052	genome.wustl.edu	37	2	33588538	33588538	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:33588538A>G	ENST00000404816.2	+	29	4705	c.4352A>G	c.(4351-4353)tAc>tGc	p.Y1451C	LTBP1_ENST00000272273.5_Missense_Mutation_p.Y349C|LTBP1_ENST00000407925.1_Missense_Mutation_p.Y1125C|LTBP1_ENST00000390003.4_Missense_Mutation_p.Y1126C|LTBP1_ENST00000354476.3_Missense_Mutation_p.Y1452C|LTBP1_ENST00000418533.2_Missense_Mutation_p.Y1083C|LTBP1_ENST00000404525.1_Missense_Mutation_p.Y1072C|LTBP1_ENST00000402934.1_Missense_Mutation_p.Y1070C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1451	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TATGAATGCTACTGTAAGCAA	0.403																																						dbGAP											0													166.0	154.0	158.0					2																	33588538		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4352A>G	2.37:g.33588538A>G	ENSP00000386043:p.Tyr1451Cys		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.Y1452C	ENST00000404816.2	37	c.4355	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255918	0.59321	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77;-3.77;-3.77;-2.95	5.34	5.34	0.76211	Epidermal growth factor-like (1);	.	.	.	.	D	0.97945	0.9324	M	0.88842	2.985	0.48830	D	0.999715	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.99;0.999;0.999;0.993;0.999;0.999;1.0	D	0.98818	1.0746	9	0.66056	D	0.02	.	15.3253	0.74157	1.0:0.0:0.0:0.0	.	349;1451;1083;1072;1125;1126;1452	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	C	1451;1452;1126;1083;1070;1072;1125;349	ENSP00000386043:Y1451C;ENSP00000346467:Y1452C;ENSP00000374653:Y1126C;ENSP00000393057:Y1083C;ENSP00000384373:Y1070C;ENSP00000385359:Y1072C;ENSP00000384091:Y1125C;ENSP00000272273:Y349C	ENSP00000272273:Y349C	Y	+	2	0	LTBP1	33442042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.758000	0.62220	2.025000	0.59659	0.460000	0.39030	TAC	LTBP1	-	smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000049323		0.403	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	170	0.00	0	A	NM_206943		33588538	33588538	+1	no_errors	ENST00000354476	ensembl	human	known	69_37n	missense	175	15.46	32	SNP	1.000	G
MAGEB4	4115	genome.wustl.edu	37	X	30260712	30260712	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:30260712G>T	ENST00000378982.2	+	1	656	c.460G>T	c.(460-462)Gtc>Ttc	p.V154F	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	154	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CTTCAGGAAAGTCTCTCAGCG	0.502																																						dbGAP											0													58.0	43.0	48.0					X																	30260712		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.460G>T	X.37:g.30260712G>T	ENSP00000368266:p.Val154Phe		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V154F	ENST00000378982.2	37	c.460	CCDS14221.1	X	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265952	0.40095	.	.	ENSG00000120289	ENST00000378982	T	0.05580	3.42	3.43	1.64	0.23874	.	0.161568	0.38548	U	0.001643	T	0.08935	0.0221	L	0.39898	1.24	0.09310	N	1	P	0.52463	0.953	P	0.53266	0.722	T	0.12682	-1.0538	10	0.87932	D	0	.	4.9447	0.13984	0.294:0.0:0.706:0.0	.	154	O15481	MAGB4_HUMAN	F	154	ENSP00000368266:V154F	ENSP00000368266:V154F	V	+	1	0	MAGEB4	30170633	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.388000	0.07352	0.311000	0.23014	0.600000	0.82982	GTC	MAGEB4	-	pfam_MAGE,pfscan_MAGE	ENSG00000120289		0.502	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB4	HGNC	protein_coding	OTTHUMT00000056159.1	49	0.00	0	G	NM_002367		30260712	30260712	+1	no_errors	ENST00000378982	ensembl	human	known	69_37n	missense	52	10.34	6	SNP	0.000	T
MAMDC2	256691	genome.wustl.edu	37	9	72659140	72659140	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:72659140G>A	ENST00000377182.4	+	1	644	c.27G>A	c.(25-27)gcG>gcA	p.A9A		NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	9					peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCCTCCTGGCGTTGCAAGGTA	0.677																																						dbGAP											0													53.0	47.0	49.0					9																	72659140		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.27G>A	9.37:g.72659140G>A			Q5VW47|Q8WX43|Q96BM4	Silent	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom	p.A9	ENST00000377182.4	37	c.27	CCDS6631.1	9																																																																																			MAMDC2	-	NULL	ENSG00000165072		0.677	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	25	0.00	0	G	NM_153267		72659140	72659140	+1	no_errors	ENST00000377182	ensembl	human	known	69_37n	silent	35	18.60	8	SNP	0.839	A
MAN1A1	4121	genome.wustl.edu	37	6	119628074	119628074	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:119628074T>C	ENST00000368468.3	-	3	1128	c.687A>G	c.(685-687)tcA>tcG	p.S229S	MAN1A1_ENST00000368466.2_Silent_p.S252S	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	229					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACAAACTGCTTGAATGGCCTC	0.363																																					Ovarian(136;8 1825 12608 33541 47587)	dbGAP											0													244.0	240.0	242.0					6																	119628074		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.687A>G	6.37:g.119628074T>C			E7EU32|Q6P052|Q9NU44|Q9UJI3	Silent	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.S229	ENST00000368468.3	37	c.687	CCDS5122.1	6																																																																																			MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000111885		0.363	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	224	0.00	0	T	NM_005907		119628074	119628074	-1	no_errors	ENST00000368468	ensembl	human	known	69_37n	silent	224	14.18	37	SNP	0.986	C
MAN2A1	4124	genome.wustl.edu	37	5	109117120	109117120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:109117120delT	ENST00000261483.4	+	9	2450	c.1398delT	c.(1396-1398)gatfs	p.D466fs		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	466					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CTTTATCAGATTTTTTTGATG	0.333																																						dbGAP											0													68.0	68.0	68.0					5																	109117120		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1398delT	5.37:g.109117120delT	ENSP00000261483:p.Asp466fs		Q16767	Frame_Shift_Del	DEL	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.F468fs	ENST00000261483.4	37	c.1398	CCDS34209.1	5																																																																																			MAN2A1	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000112893		0.333	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	99	0.00	0	T			109117120	109117120	+1	no_errors	ENST00000261483	ensembl	human	known	69_37n	frame_shift_del	68	24.44	22	DEL	1.000	-
MAN2A2	4122	genome.wustl.edu	37	15	91459377	91459377	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:91459377G>T	ENST00000559717.1	+	20	3344	c.2885G>T	c.(2884-2886)cGg>cTg	p.R962L	MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000430376.2_Missense_Mutation_p.R152L|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R470L|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R962L			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	962					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATCTTGGACCGGCGGCTGATG	0.617																																						dbGAP											0													63.0	61.0	62.0					15																	91459377		2198	4298	6496	-	-	-	SO:0001583	missense	0			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2885G>T	15.37:g.91459377G>T	ENSP00000452948:p.Arg962Leu		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R962L	ENST00000559717.1	37	c.2885	CCDS32332.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.639373	0.96693	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.94138	-3.36;-3.36;-3.36	5.0	5.0	0.66597	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.129500	0.52532	D	0.000078	D	0.97629	0.9223	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98576	1.0648	10	0.87932	D	0	-33.31	18.1446	0.89651	0.0:0.0:1.0:0.0	.	470;590;962	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	L	962;470;152	ENSP00000353655:R962L;ENSP00000388221:R470L;ENSP00000394372:R152L	ENSP00000353655:R962L	R	+	2	0	MAN2A2	89260381	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.598000	0.87819	0.585000	0.79938	CGG	MAN2A2	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000196547		0.617	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5	52	0.00	0	G	NM_006122		91459377	91459377	+1	no_errors	ENST00000360468	ensembl	human	known	69_37n	missense	19	62.96	34	SNP	1.000	T
MANSC1	54682	genome.wustl.edu	37	12	12483263	12483263	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:12483263T>C	ENST00000535902.1	-	4	1557	c.994A>G	c.(994-996)Aca>Gca	p.T332A	MANSC1_ENST00000545735.1_Missense_Mutation_p.T251A|MANSC1_ENST00000396349.3_Missense_Mutation_p.T298A			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	332	Thr-rich.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ACATTCCCTGTGTTCAAAGTT	0.458																																						dbGAP											0													141.0	133.0	136.0					12																	12483263		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.994A>G	12.37:g.12483263T>C	ENSP00000438205:p.Thr332Ala		Q8NEC1|Q9NW60	Missense_Mutation	SNP	pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC	p.T332A	ENST00000535902.1	37	c.994	CCDS8648.1	12	.	.	.	.	.	.	.	.	.	.	T	8.898	0.955637	0.18507	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.25085	2.17;2.17;1.82	5.04	-8.59	0.00893	.	1.782180	0.03326	N	0.192705	T	0.11965	0.0291	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.15867	-1.0422	10	0.17369	T	0.5	-2.5403	3.4862	0.07620	0.12:0.161:0.4849:0.2341	.	266;298;332	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	A	332;298;251;251	ENSP00000438205:T332A;ENSP00000379638:T298A;ENSP00000445303:T251A	ENSP00000347765:T251A	T	-	1	0	MANSC1	12374530	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.100000	0.01345	-1.345000	0.02214	0.402000	0.26972	ACA	MANSC1	-	NULL	ENSG00000111261		0.458	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANSC1	HGNC	protein_coding	OTTHUMT00000400144.1	106	0.00	0	T	NM_018050		12483263	12483263	-1	no_errors	ENST00000535902	ensembl	human	known	69_37n	missense	53	34.57	28	SNP	0.000	C
MAPK8IP3	23162	genome.wustl.edu	37	16	1798618	1798618	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:1798618C>T	ENST00000250894.4	+	8	1267	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	LA16c-361A3.3_ENST00000569670.1_RNA|MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Silent_p.I370I	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	370					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCCAGGGCATCGTGAACAAAG	0.617																																						dbGAP											0													54.0	59.0	57.0					16																	1798618		2124	4247	6371	-	-	-	SO:0001819	synonymous_variant	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1110C>T	16.37:g.1798618C>T			A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.I370	ENST00000250894.4	37	c.1110	CCDS10442.2	16																																																																																			MAPK8IP3	-	NULL	ENSG00000138834		0.617	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	64	0.00	0	C	NM_001040439		1798618	1798618	+1	no_errors	ENST00000250894	ensembl	human	known	69_37n	silent	50	13.79	8	SNP	0.368	T
MCM3AP	8888	genome.wustl.edu	37	21	47663638	47663638	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr21:47663638T>C	ENST00000397708.1	-	25	5293		c.e25-2		MCM3AP_ENST00000291688.1_Splice_Site|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_Splice_Site|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein						DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCCAGGGGGCTGGGGAGAAAG	0.532																																						dbGAP											0													36.0	40.0	39.0					21																	47663638		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5039-2A>G	21.37:g.47663638T>C			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Splice_Site	SNP	-	e24-2	ENST00000397708.1	37	c.5039-2	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	T	12.55	1.970754	0.34754	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1852	0.72996	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCM3AP	46488066	1.000000	0.71417	0.849000	0.33467	0.152000	0.21847	7.208000	0.77907	2.047000	0.60756	0.459000	0.35465	.	MCM3AP	-	-	ENSG00000160294		0.532	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	60	0.00	0	T	NM_003906	Intron	47663638	47663638	-1	no_errors	ENST00000291688	ensembl	human	known	69_37n	splice_site	46	26.98	17	SNP	1.000	C
MCOLN3	55283	genome.wustl.edu	37	1	85499890	85499890	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:85499890C>A	ENST00000370589.2	-	4	493	c.441G>T	c.(439-441)gaG>gaT	p.E147D	MCOLN3_ENST00000341115.4_Missense_Mutation_p.E91D|MCOLN3_ENST00000370587.1_Missense_Mutation_p.E147D|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	147					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TACCTTTGTTCTCATAAGCAT	0.443																																						dbGAP											0													150.0	128.0	135.0					1																	85499890		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.441G>T	1.37:g.85499890C>A	ENSP00000359621:p.Glu147Asp		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.E147D	ENST00000370589.2	37	c.441	CCDS701.1	1	.	.	.	.	.	.	.	.	.	.	C	8.696	0.908490	0.17833	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.59638	0.25;0.25;0.25	5.86	2.5	0.30297	.	0.049134	0.85682	D	0.000000	T	0.26882	0.0658	L	0.48877	1.53	0.39058	D	0.96047	B;P;P	0.38677	0.023;0.527;0.642	B;B;B	0.39590	0.029;0.304;0.301	T	0.07868	-1.0750	10	0.12430	T	0.62	.	6.8438	0.23977	0.0:0.6014:0.1342:0.2644	.	147;91;147	B1ANB7;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	D	147;147;91;91;147	ENSP00000359621:E147D;ENSP00000342698:E91D;ENSP00000359619:E147D	ENSP00000304843:E147D	E	-	3	2	MCOLN3	85272478	1.000000	0.71417	0.689000	0.30133	0.400000	0.30750	1.336000	0.33850	0.806000	0.34183	0.655000	0.94253	GAG	MCOLN3	-	NULL	ENSG00000055732		0.443	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	140	0.00	0	C	NM_018298		85499890	85499890	-1	no_errors	ENST00000302814	ensembl	human	known	69_37n	missense	103	14.17	17	SNP	1.000	A
MEGF10	84466	genome.wustl.edu	37	5	126705651	126705651	+	Silent	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:126705651C>A	ENST00000274473.6	+	6	636	c.369C>A	c.(367-369)acC>acA	p.T123T	MEGF10_ENST00000508365.1_Silent_p.T123T|MEGF10_ENST00000418761.2_Silent_p.T123T|MEGF10_ENST00000503335.2_Silent_p.T123T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	123	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTCCAAACACCTGTCAGTGTG	0.473																																						dbGAP											0													186.0	154.0	165.0					5																	126705651		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.369C>A	5.37:g.126705651C>A			Q68DE5|Q8WUL3	Silent	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.T123	ENST00000274473.6	37	c.369	CCDS4142.1	5																																																																																			MEGF10	-	smart_EGF-like	ENSG00000145794		0.473	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2	264	0.00	0	C	NM_032446		126705651	126705651	+1	no_errors	ENST00000274473	ensembl	human	known	69_37n	silent	177	16.82	36	SNP	1.000	A
MEGF8	1954	genome.wustl.edu	37	19	42873850	42873850	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:42873850G>A	ENST00000251268.6	+	38	6809	c.6809G>A	c.(6808-6810)tGc>tAc	p.C2270Y	MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000334370.4_Missense_Mutation_p.C2203Y	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2270	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGTGACCACTGCTTGCTCTGC	0.672																																						dbGAP											0													26.0	25.0	25.0					19																	42873850		2202	4296	6498	-	-	-	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6809G>A	19.37:g.42873850G>A	ENSP00000251268:p.Cys2270Tyr		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.C2270Y	ENST00000251268.6	37	c.6809		19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030541	0.75504	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.67523	-0.27;-0.27	4.88	4.88	0.63580	EGF-like, laminin (2);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	H	0.99415	4.555	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.915;0.997	D	0.94511	0.7718	10	0.87932	D	0	-17.4677	17.1878	0.86871	0.0:0.0:1.0:0.0	.	2270;2203	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	Y	2203;2270	ENSP00000334219:C2203Y;ENSP00000251268:C2270Y	ENSP00000251268:C2270Y	C	+	2	0	MEGF8	47565690	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	8.804000	0.91921	2.428000	0.82296	0.313000	0.20887	TGC	MEGF8	-	smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin	ENSG00000105429		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	9	0.00	0	G	NM_001410		42873850	42873850	+1	no_errors	ENST00000251268	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	1.000	A
MGAT4A	11320	genome.wustl.edu	37	2	99253041	99253041	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:99253041C>T	ENST00000264968.3	-	12	1703	c.1340G>A	c.(1339-1341)gGc>gAc	p.G447D	MGAT4A_ENST00000409391.1_Missense_Mutation_p.G447D|MGAT4A_ENST00000393487.1_Missense_Mutation_p.G447D|MGAT4A_ENST00000414521.2_Missense_Mutation_p.G319D			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	447					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						TTCTTGGTTGCCGCTATGGAA	0.363																																						dbGAP											0													95.0	94.0	94.0					2																	99253041		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1340G>A	2.37:g.99253041C>T	ENSP00000264968:p.Gly447Asp		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	pfam_Glyco_transf_54	p.G447D	ENST00000264968.3	37	c.1340	CCDS2036.1	2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638952	0.87760	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.55052	0.54;0.67;0.54;0.54	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.77624	0.4158	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81280	-0.1004	10	0.87932	D	0	.	18.5997	0.91244	0.0:1.0:0.0:0.0	.	319;447	E9PEN2;Q9UM21	.;MGT4A_HUMAN	D	447;319;447;447	ENSP00000377127:G447D;ENSP00000404889:G319D;ENSP00000264968:G447D;ENSP00000386841:G447D	ENSP00000264968:G447D	G	-	2	0	MGAT4A	98619473	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.975000	0.76128	2.631000	0.89168	0.563000	0.77884	GGC	MGAT4A	-	NULL	ENSG00000071073		0.363	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4A	HGNC	protein_coding	OTTHUMT00000252988.2	124	0.00	0	C	NM_012214		99253041	99253041	-1	no_errors	ENST00000264968	ensembl	human	known	69_37n	missense	131	10.88	16	SNP	1.000	T
MIPEP	4285	genome.wustl.edu	37	13	24443487	24443487	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:24443487A>T	ENST00000382172.3	-	7	985	c.887T>A	c.(886-888)gTg>gAg	p.V296E		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	296					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GGAATACCCCACCAACTTTGC	0.398																																						dbGAP											0													102.0	104.0	103.0					13																	24443487		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.887T>A	13.37:g.24443487A>T	ENSP00000371607:p.Val296Glu		Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.V296E	ENST00000382172.3	37	c.887	CCDS9303.1	13	.	.	.	.	.	.	.	.	.	.	A	18.28	3.588114	0.66105	.	.	ENSG00000027001	ENST00000382172	T	0.08193	3.12	5.9	5.9	0.94986	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	M	0.85041	2.73	0.58432	D	0.999997	D	0.67145	0.996	D	0.67900	0.954	T	0.12863	-1.0531	10	0.72032	D	0.01	.	16.3196	0.82941	1.0:0.0:0.0:0.0	.	296	Q99797	MIPEP_HUMAN	E	296	ENSP00000371607:V296E	ENSP00000371607:V296E	V	-	2	0	MIPEP	23341487	1.000000	0.71417	0.392000	0.26245	0.328000	0.28507	8.635000	0.91006	2.248000	0.74166	0.459000	0.35465	GTG	MIPEP	-	pfam_Pept_M3A_M3B	ENSG00000027001		0.398	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIPEP	HGNC	protein_coding	OTTHUMT00000044169.1	121	0.00	0	A			24443487	24443487	-1	no_errors	ENST00000382172	ensembl	human	known	69_37n	missense	46	45.24	38	SNP	1.000	T
MIR24-2	407013	genome.wustl.edu	37	19	13947404	13947404	+	lincRNA	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:13947404C>T	ENST00000386972.1	-	0	0				MIR23A_ENST00000385245.1_RNA|MIR27A_ENST00000385073.1_RNA	NR_029497.1				microRNA 24-2																		AGCTCAGGGTCGGTTGGAAAT	0.662																																						dbGAP											0													41.0	44.0	43.0					19																	13947404		1568	3582	5150	-	-	-			0					19p13.13	2011-09-12		2008-12-18	ENSG00000209707	ENSG00000276797		"""ncRNAs / Micro RNAs"""	31608	non-coding RNA	RNA, micro		610724		MIRN24-2			Standard	NR_029497		Approved	hsa-mir-24-2					19.37:g.13947404C>T				RNA	SNP	-	NULL	ENST00000386972.1	37	NULL		19																																																																																			MIR23A	-	-	ENSG00000207980		0.662	MIR24-2-201	KNOWN	basic	miRNA	MIR23A	HGNC	lincRNA		48	0.00	0	C	NR_029497		13947404	13947404	-1	no_errors	ENST00000385245	ensembl	human	known	69_37n	rna	32	21.95	9	SNP	1.000	T
MKI67	4288	genome.wustl.edu	37	10	129903631	129903631	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:129903631T>G	ENST00000368654.3	-	13	6848	c.6473A>C	c.(6472-6474)aAc>aCc	p.N2158T	MKI67_ENST00000368653.3_Missense_Mutation_p.N1798T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2158	16 X 122 AA approximate repeats.				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)				CCTGAACACGTTGATGCCTTT	0.498																																						dbGAP											0													210.0	188.0	195.0					10																	129903631		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.6473A>C	10.37:g.129903631T>G	ENSP00000357643:p.Asn2158Thr		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.N2158T	ENST00000368654.3	37	c.6473	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	T	2.716	-0.267673	0.05754	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02067	4.47;4.47	4.27	-8.53	0.00916	.	1.377120	0.05008	N	0.470381	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.0;0.004;0.003	B;B;B	0.13407	0.001;0.009;0.004	T	0.41142	-0.9525	10	0.13108	T	0.6	.	9.1862	0.37172	0.0:0.4072:0.378:0.2148	.	2157;1798;2158	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	2158;1798;2157	ENSP00000357643:N2158T;ENSP00000357642:N1798T	ENSP00000357642:N1798T	N	-	2	0	MKI67	129793621	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.692000	0.00198	-4.011000	0.00082	-0.366000	0.07423	AAC	MKI67	-	pfam_K167R	ENSG00000148773		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	366	0.00	0	T	NM_002417		129903631	129903631	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	missense	355	13.83	57	SNP	0.000	G
MKI67	4288	genome.wustl.edu	37	10	129913443	129913443	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:129913443T>C	ENST00000368654.3	-	7	1604	c.1229A>G	c.(1228-1230)gAc>gGc	p.D410G	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	410					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)				AGTGGCAGAGTCAGCTGCATC	0.438																																						dbGAP											0													89.0	92.0	91.0					10																	129913443		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1229A>G	10.37:g.129913443T>C	ENSP00000357643:p.Asp410Gly		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.D410G	ENST00000368654.3	37	c.1229	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	T	10.47	1.357973	0.24598	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01505	4.82	4.16	-0.194	0.13240	.	2.609730	0.01101	N	0.005372	T	0.01592	0.0051	N	0.14661	0.345	0.09310	N	1	B	0.34015	0.435	B	0.30029	0.11	T	0.43605	-0.9381	10	0.87932	D	0	.	6.7491	0.23477	0.0:0.4797:0.0:0.5203	.	410	P46013	KI67_HUMAN	G	410	ENSP00000357643:D410G	ENSP00000357643:D410G	D	-	2	0	MKI67	129803433	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.199000	0.09491	-0.118000	0.11851	0.533000	0.62120	GAC	MKI67	-	NULL	ENSG00000148773		0.438	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	65	0.00	0	T	NM_002417		129913443	129913443	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	missense	73	10.47	9	SNP	0.000	C
KMT2D	8085	genome.wustl.edu	37	12	49421616	49421616	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:49421616G>C	ENST00000301067.7	-	47	14612	c.14613C>G	c.(14611-14613)agC>agG	p.S4871R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4871				S -> R (in Ref. 1; AAC51734/AAC51735). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGTCTAGTTGGCTCTTCAGGG	0.562																																						dbGAP											0													53.0	51.0	52.0					12																	49421616		1927	4140	6067	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14613C>G	12.37:g.49421616G>C	ENSP00000301067:p.Ser4871Arg		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S4871R	ENST00000301067.7	37	c.14613	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	3.061	-0.193336	0.06259	.	.	ENSG00000167548	ENST00000301067	T	0.78707	-1.2	4.5	2.66	0.31614	.	0.000000	0.39544	N	0.001328	T	0.56645	0.1999	N	0.19112	0.55	0.27038	N	0.964072	P	0.38922	0.651	B	0.30572	0.117	T	0.54583	-0.8272	10	0.87932	D	0	.	6.6403	0.22904	0.3842:0.0:0.6158:0.0	.	4871	O14686	MLL2_HUMAN	R	4871	ENSP00000301067:S4871R	ENSP00000301067:S4871R	S	-	3	2	MLL2	47707883	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	1.398000	0.34554	0.459000	0.27016	0.467000	0.42956	AGC	MLL2	-	NULL	ENSG00000167548		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	118	0.84	1	G			49421616	49421616	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	75	16.67	15	SNP	1.000	C
MMP2	4313	genome.wustl.edu	37	16	55523666	55523666	+	Silent	SNP	C	C	T	rs544673695		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:55523666C>T	ENST00000219070.4	+	7	1619	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	MMP2_ENST00000570308.1_Silent_p.D294D|MMP2_ENST00000437642.2_Silent_p.D320D|MMP2_ENST00000543485.1_Silent_p.D294D	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	370	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				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)	GCCGCAGTGACGGAAAGATGT	0.582													c|||	1	0.000199681	0.0	0.0	5008	,	,		18942	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													110.0	97.0	101.0					16																	55523666		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0				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.1110C>T	16.37:g.55523666C>T			B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	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.D370	ENST00000219070.4	37	c.1110	CCDS10752.1	16																																																																																			MMP2	-	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000087245		0.582	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	43	0.00	0	C			55523666	55523666	+1	no_errors	ENST00000219070	ensembl	human	known	69_37n	silent	33	25.00	11	SNP	0.858	T
MMP21	118856	genome.wustl.edu	37	10	127461252	127461252	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:127461252T>C	ENST00000368808.3	-	3	764	c.765A>G	c.(763-765)ctA>ctG	p.L255L		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	255					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	GAATGTCACCTAGGCGCCAGG	0.632																																						dbGAP											0													131.0	109.0	117.0					10																	127461252		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.765A>G	10.37:g.127461252T>C			Q5VZP9|Q8NG02	Silent	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.L255	ENST00000368808.3	37	c.765	CCDS7647.1	10																																																																																			MMP21	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000154485		0.632	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP21	HGNC	protein_coding	OTTHUMT00000050928.1	85	0.00	0	T			127461252	127461252	-1	no_errors	ENST00000368808	ensembl	human	known	69_37n	silent	183	11.59	24	SNP	0.969	C
MMS22L	253714	genome.wustl.edu	37	6	97626347	97626347	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:97626347G>C	ENST00000275053.4	-	18	2916	c.2651C>G	c.(2650-2652)cCt>cGt	p.P884R	MMS22L_ENST00000369251.2_Missense_Mutation_p.P844R	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	884					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCTTTTTTAGGGTCTTCTGA	0.299																																						dbGAP											0													69.0	75.0	73.0					6																	97626347		2202	4286	6488	-	-	-	SO:0001583	missense	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2651C>G	6.37:g.97626347G>C	ENSP00000275053:p.Pro884Arg		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P884R	ENST00000275053.4	37	c.2651	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913221	0.72983	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.30714	1.52;1.52	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	T	0.48843	-0.8999	10	0.56958	D	0.05	-19.6127	20.2191	0.98319	0.0:0.0:1.0:0.0	.	844;884	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	R	884;844	ENSP00000275053:P884R;ENSP00000358254:P844R	ENSP00000275053:P884R	P	-	2	0	MMS22L	97733068	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	6.778000	0.75043	2.780000	0.95670	0.655000	0.94253	CCT	MMS22L	-	superfamily_ARM-type_fold	ENSG00000146263		0.299	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	88	0.00	0	G	NM_198468		97626347	97626347	-1	no_errors	ENST00000275053	ensembl	human	known	69_37n	missense	68	32.00	32	SNP	1.000	C
MOSPD2	158747	genome.wustl.edu	37	X	14929530	14929530	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:14929530delA	ENST00000380492.3	+	9	962	c.874delA	c.(874-876)aaafs	p.K293fs	MOSPD2_ENST00000482354.1_Frame_Shift_Del_p.K293fs|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	293						integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					ACCTCTTCTTAAAAAGGTAAC	0.333																																						dbGAP											0													53.0	50.0	51.0					X																	14929530		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.874delA	X.37:g.14929530delA	ENSP00000369860:p.Lys293fs		Q8N3H2|Q8NA83	Frame_Shift_Del	DEL	pfam_CRAL-TRIO_dom,pfam_Major_sperm,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_Major_sperm	p.K293fs	ENST00000380492.3	37	c.874	CCDS14162.1	X																																																																																			MOSPD2	-	NULL	ENSG00000130150		0.333	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	HGNC	protein_coding	OTTHUMT00000055837.1	81	0.00	0	A	NM_152581		14929530	14929530	+1	no_errors	ENST00000380492	ensembl	human	known	69_37n	frame_shift_del	57	21.92	16	DEL	0.948	-
MPHOSPH9	10198	genome.wustl.edu	37	12	123703048	123703048	+	Splice_Site	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:123703048T>A	ENST00000606320.1	-	6	1079		c.e6-2		MPHOSPH9_ENST00000302349.5_Splice_Site|MPHOSPH9_ENST00000541076.2_Splice_Site|MPHOSPH9_ENST00000392425.3_Splice_Site			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9							centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATAGCATTACTATTTAAGAAG	0.403																																						dbGAP											0													160.0	147.0	152.0					12																	123703048		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.873-2A>T	12.37:g.123703048T>A			A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Splice_Site	SNP	-	e2-2	ENST00000606320.1	37	c.417-2		12	.	.	.	.	.	.	.	.	.	.	T	12.07	1.826691	0.32329	.	.	ENSG00000051825;ENSG00000051825;ENSG00000257076;ENSG00000257076	ENST00000302349;ENST00000541076;ENST00000539336;ENST00000537854	.	.	.	4.83	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3466	0.38111	0.0:0.0849:0.0:0.9151	.	.	.	.	.	-1	.	.	.	-	.	.	MPHOSPH9;RP11-546D6.2	122269001	0.988000	0.35896	0.088000	0.20740	0.198000	0.23893	2.118000	0.41949	0.759000	0.33084	0.454000	0.30748	.	MPHOSPH9	-	-	ENSG00000051825		0.403	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	240	0.00	0	T		Intron	123703048	123703048	-1	no_errors	ENST00000541076	ensembl	human	known	69_37n	splice_site	153	14.53	26	SNP	0.885	A
MPO	4353	genome.wustl.edu	37	17	56353032	56353032	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:56353032G>A	ENST00000225275.3	-	8	1412	c.1236C>T	c.(1234-1236)ctC>ctT	p.L412L	MPO_ENST00000340482.3_Silent_p.L444L|MPO_ENST00000578493.1_5'UTR	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	412					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GCATGGAGGTGAGCTCGGGCA	0.572																																						dbGAP											0													102.0	80.0	87.0					17																	56353032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1236C>T	17.37:g.56353032G>A			A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.L444	ENST00000225275.3	37	c.1332	CCDS11604.1	17																																																																																			MPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	ENSG00000005381		0.572	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	85	0.00	0	G			56353032	56353032	-1	no_errors	ENST00000340482	ensembl	human	known	69_37n	silent	145	14.53	25	SNP	1.000	A
MPP5	64398	genome.wustl.edu	37	14	67759250	67759250	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:67759250A>G	ENST00000261681.4	+	4	1051	c.390A>G	c.(388-390)tcA>tcG	p.S130S	MPP5_ENST00000555925.1_Silent_p.S96S	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	130	Interaction with PARD6B. {ECO:0000250}.|L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TGTTTTCTTCACTTAAACATA	0.308																																						dbGAP											0													71.0	68.0	69.0					14																	67759250		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.390A>G	14.37:g.67759250A>G			A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.S130	ENST00000261681.4	37	c.390	CCDS9779.1	14																																																																																			MPP5	-	pfam_L27_N,smart_L27,pfscan_L27	ENSG00000072415		0.308	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	103	0.00	0	A	NM_022474		67759250	67759250	+1	no_errors	ENST00000261681	ensembl	human	known	69_37n	silent	71	21.11	19	SNP	0.857	G
MPPE1	65258	genome.wustl.edu	37	18	11886609	11886609	+	Silent	SNP	C	C	T	rs528104626		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr18:11886609C>T	ENST00000588072.1	-	9	1977	c.756G>A	c.(754-756)ctG>ctA	p.L252L	MPPE1_ENST00000592755.1_5'Flank|MPPE1_ENST00000399978.2_Silent_p.L253L|MPPE1_ENST00000317235.7_Intron|MPPE1_ENST00000344987.7_Silent_p.L230L|MPPE1_ENST00000309976.9_Intron	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	252					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						TTCTCCGATACAGAGGATAAT	0.557																																						dbGAP											0													96.0	85.0	89.0					18																	11886609		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.756G>A	18.37:g.11886609C>T			B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Silent	SNP	pfam_Metallo_PEstase_dom	p.L252	ENST00000588072.1	37	c.756	CCDS11853.1	18																																																																																			MPPE1	-	NULL	ENSG00000154889		0.557	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPE1	HGNC	protein_coding	OTTHUMT00000254562.2	69	0.00	0	C	NM_023075		11886609	11886609	-1	no_errors	ENST00000588072	ensembl	human	known	69_37n	silent	55	19.12	13	SNP	0.562	T
MRPL45P2	653479	genome.wustl.edu	37	17	45569792	45569794	+	RNA	DEL	AAC	AAC	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	AAC	AAC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:45569792_45569794delAAC	ENST00000575291.1	-	0	42_44									mitochondrial ribosomal protein L45 pseudogene 2																		ACCCTCGATAAACAAGAGAACCC	0.591																																						dbGAP											0																																										-	-	-			0					17q21.32	2010-09-29				ENSG00000228782			29716	pseudogene	pseudogene						12706105	Standard	NR_033934		Approved		uc002ilq.3				17.37:g.45569792_45569794delAAC				RNA	DEL	-	NULL	ENST00000575291.1	37	NULL		17																																																																																			MRPL45P2	-	-	ENSG00000228782		0.591	MRPL45P2-001	KNOWN	basic	processed_transcript	MRPL45P2	HGNC	pseudogene	OTTHUMT00000441112.1	223	0.00	0	AAC	NR_033934		45569792	45569794	-1	no_errors	ENST00000425159	ensembl	human	known	69_37n	rna	179	10.50	21	DEL	0.004:0.000:0.000	-
MS4A2	2206	genome.wustl.edu	37	11	59863091	59863091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:59863091G>T	ENST00000278888.3	+	7	799	c.697G>T	c.(697-699)Gaa>Taa	p.E233*		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	233					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CAGTGAGTTGGAAGACCCAGG	0.398																																						dbGAP											0													122.0	119.0	120.0					11																	59863091		2201	4295	6496	-	-	-	SO:0001587	stop_gained	0			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.697G>T	11.37:g.59863091G>T	ENSP00000278888:p.Glu233*		Q54A81	Nonsense_Mutation	SNP	pfam_CD20-like	p.E233*	ENST00000278888.3	37	c.697	CCDS7980.1	11	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469165	0.43839	.	.	ENSG00000149534	ENST00000278888	.	.	.	4.79	3.87	0.44632	.	0.803024	0.11512	N	0.556640	.	.	.	.	.	.	0.36795	D	0.885055	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-12.5558	11.2868	0.49226	0.0:0.1831:0.8169:0.0	.	.	.	.	X	233	.	ENSP00000278888:E233X	E	+	1	0	MS4A2	59619667	1.000000	0.71417	0.997000	0.53966	0.077000	0.17291	2.374000	0.44274	1.611000	0.50210	0.655000	0.94253	GAA	MS4A2	-	NULL	ENSG00000149534		0.398	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A2	HGNC	protein_coding	OTTHUMT00000393844.1	132	0.00	0	G			59863091	59863091	+1	no_errors	ENST00000278888	ensembl	human	known	69_37n	nonsense	130	10.96	16	SNP	0.998	T
MTHFR	4524	genome.wustl.edu	37	1	11852409	11852409	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:11852409C>G	ENST00000376592.1	-	9	1686	c.1558G>C	c.(1558-1560)Gag>Cag	p.E520Q	MTHFR_ENST00000376583.3_Missense_Mutation_p.E561Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.E561Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.E520Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	520					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	TCCGCTGTCTCGCGGGAAGTG	0.557																																						dbGAP											0													75.0	77.0	77.0					1																	11852409		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1558G>C	1.37:g.11852409C>G	ENSP00000365777:p.Glu520Gln		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.E561Q	ENST00000376592.1	37	c.1681	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528750	0.85706	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.62088	1.915	0.80722	D	1	P;P	0.50943	0.46;0.94	B;P	0.49829	0.184;0.623	T	0.64275	-0.6446	10	0.51188	T	0.08	.	17.6767	0.88232	0.0:1.0:0.0:0.0	.	520;561	P42898;Q5SNW6	MTHR_HUMAN;.	Q	520;561;520;561	ENSP00000365777:E520Q;ENSP00000365767:E561Q;ENSP00000365775:E520Q;ENSP00000365770:E561Q	ENSP00000365767:E561Q	E	-	1	0	MTHFR	11774996	1.000000	0.71417	0.731000	0.30826	0.602000	0.36980	7.264000	0.78432	2.426000	0.82243	0.491000	0.48974	GAG	MTHFR	-	NULL	ENSG00000177000		0.557	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	44	0.00	0	C	NM_005957		11852409	11852409	-1	no_errors	ENST00000376583	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	0.999	G
MTHFR	4524	genome.wustl.edu	37	1	11854032	11854032	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:11854032T>C	ENST00000376592.1	-	8	1590	c.1462A>G	c.(1462-1464)Atc>Gtc	p.I488V	MTHFR_ENST00000376583.3_Missense_Mutation_p.I529V|MTHFR_ENST00000376585.1_Missense_Mutation_p.I529V|MTHFR_ENST00000376590.3_Missense_Mutation_p.I488V			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	488					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	TTCCCGTTGATGTTGGGCTGT	0.662																																						dbGAP											0													99.0	103.0	101.0					1																	11854032		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1462A>G	1.37:g.11854032T>C	ENSP00000365777:p.Ile488Val		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.I529V	ENST00000376592.1	37	c.1585	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	T	3.527	-0.096584	0.07010	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	4.71	-0.325	0.12702	.	0.150959	0.64402	N	0.000015	T	0.24967	0.0606	N	0.00683	-1.26	0.40177	D	0.977245	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.41288	-0.9517	10	0.02654	T	1	.	8.8486	0.35186	0.0:0.4114:0.0:0.5885	.	488;529	P42898;Q5SNW6	MTHR_HUMAN;.	V	488;529;488;529	ENSP00000365777:I488V;ENSP00000365767:I529V;ENSP00000365775:I488V;ENSP00000365770:I529V	ENSP00000365767:I529V	I	-	1	0	MTHFR	11776619	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	2.093000	0.41710	-0.335000	0.08451	0.379000	0.24179	ATC	MTHFR	-	NULL	ENSG00000177000		0.662	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	53	0.00	0	T	NM_005957		11854032	11854032	-1	no_errors	ENST00000376583	ensembl	human	known	69_37n	missense	40	21.57	11	SNP	1.000	C
MTIF2	4528	genome.wustl.edu	37	2	55471321	55471322	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:55471321_55471322delAG	ENST00000263629.4	-	11	1469_1470	c.1154_1155delCT	c.(1153-1155)tctfs	p.S385fs	MTIF2_ENST00000403721.1_Frame_Shift_Del_p.S385fs|MTIF2_ENST00000394600.3_Frame_Shift_Del_p.S385fs	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	385					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CAACCAGAACAGAGCCTTTTCT	0.337																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1154_1155delCT	2.37:g.55471323_55471324delAG	ENSP00000263629:p.Ser385fs		D6W5D0	Frame_Shift_Del	DEL	pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_TIF_IF2_dom3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Small_GTP-bd_dom	p.S385fs	ENST00000263629.4	37	c.1155_1154	CCDS1853.1	2																																																																																			MTIF2	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel	ENSG00000085760		0.337	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	163	0.00	0	AG	NM_002453		55471321	55471322	-1	no_errors	ENST00000263629	ensembl	human	known	69_37n	frame_shift_del	162	15.62	30	DEL	0.502:0.836	-
MTMR11	10903	genome.wustl.edu	37	1	149901062	149901062	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:149901062C>T	ENST00000439741.2	-	17	2339	c.2089G>A	c.(2089-2091)Gct>Act	p.A697T	MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000369140.3_Missense_Mutation_p.A625T	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	697							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGAATGCCAGCAATTTCAGTG	0.443																																						dbGAP											0													129.0	128.0	128.0					1																	149901062		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.2089G>A	1.37:g.149901062C>T	ENSP00000391668:p.Ala697Thr		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotub-related	p.A697T	ENST00000439741.2	37	c.2089	CCDS53360.1	1	.	.	.	.	.	.	.	.	.	.	C	8.722	0.914560	0.17907	.	.	ENSG00000014914	ENST00000369140;ENST00000439741	D;D	0.94966	-3.57;-3.56	4.83	0.444	0.16592	.	3.081530	0.00616	N	0.000428	T	0.75810	0.3900	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.69946	-0.5007	10	0.20046	T	0.44	.	1.3739	0.02216	0.1841:0.4646:0.1588:0.1925	.	625;697	A4FU01-4;A4FU01	.;MTMRB_HUMAN	T	625;697	ENSP00000358136:A625T;ENSP00000391668:A697T	ENSP00000358136:A625T	A	-	1	0	MTMR11	148167686	0.001000	0.12720	0.005000	0.12908	0.002000	0.02628	0.082000	0.14847	0.247000	0.21414	-0.150000	0.13652	GCT	MTMR11	-	NULL	ENSG00000014914		0.443	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding		205	0.00	0	C	NM_181873		149901062	149901062	-1	no_errors	ENST00000439741	ensembl	human	known	69_37n	missense	274	55.00	341	SNP	0.001	T
MUC17	140453	genome.wustl.edu	37	7	100681430	100681430	+	Missense_Mutation	SNP	G	G	A	rs566889208		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:100681430G>A	ENST00000306151.4	+	3	6797	c.6733G>A	c.(6733-6735)Gtt>Att	p.V2245I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2245	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCAACTCCTGTTGACACCAG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		26655	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													323.0	321.0	321.0					7																	100681430		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6733G>A	7.37:g.100681430G>A	ENSP00000302716:p.Val2245Ile		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.V2245I	ENST00000306151.4	37	c.6733	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	4.029	0.002853	0.07866	.	.	ENSG00000169876	ENST00000306151	T	0.02369	4.32	1.54	-3.08	0.05347	.	.	.	.	.	T	0.01489	0.0048	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.48768	-0.9006	9	0.17369	T	0.5	.	3.3482	0.07142	0.3046:0.0:0.4865:0.2089	.	2245	Q685J3	MUC17_HUMAN	I	2245	ENSP00000302716:V2245I	ENSP00000302716:V2245I	V	+	1	0	MUC17	100468150	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.477000	0.00458	-0.520000	0.06435	0.134000	0.15878	GTT	MUC17	-	NULL	ENSG00000169876		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	244	0.00	0	G	NM_001040105		100681430	100681430	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	210	14.98	37	SNP	0.001	A
MUC5B	727897	genome.wustl.edu	37	11	1268667	1268667	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:1268667C>T	ENST00000529681.1	+	31	10615	c.10557C>T	c.(10555-10557)acC>acT	p.T3519T	MUC5B_ENST00000447027.1_Silent_p.T3522T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3519	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	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)		GCAGGACCACCGAGTCACCCC	0.672																																						dbGAP											0													52.0	75.0	67.0					11																	1268667		2054	4177	6231	-	-	-	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10557C>T	11.37:g.1268667C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	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.T3522	ENST00000529681.1	37	c.10566	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	171	0.00	0	C	XM_001126093		1268667	1268667	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	silent	121	23.90	38	SNP	0.000	T
MYCBP2	23077	genome.wustl.edu	37	13	77655723	77655723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:77655723G>A	ENST00000544440.2	-	65	11160	c.11143C>T	c.(11143-11145)Cga>Tga	p.R3715*	MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.R3715*|MYCBP2-AS2_ENST00000428716.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.R3753*|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGGCAGGTCGGCTTGAAGTT	0.363																																						dbGAP											0													127.0	117.0	120.0					13																	77655723		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11143C>T	13.37:g.77655723G>A	ENSP00000444596:p.Arg3715*			Nonsense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.R3753*	ENST00000544440.2	37	c.11257		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.265894|4.265894	0.80358|0.80358	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|.	.|.	.|.	5.44|5.44	3.59|3.59	0.41128|0.41128	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.32793|.	0.0841|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34925|.	-0.9809|.	3|.	.|0.02654	.|T	.|1	.|.	13.3484|13.3484	0.60587|0.60587	0.0:0.0:0.5896:0.4104|0.0:0.0:0.5896:0.4104	.|.	.|.	.|.	.|.	L|X	138|3715;3753;3715	.|.	.|ENSP00000349892:R3715X	P|R	-|-	2|1	0|2	MYCBP2|MYCBP2	76553724|76553724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.826000|3.826000	0.55738|0.55738	1.229000|1.229000	0.43630|0.43630	0.655000|0.655000	0.94253|0.94253	CCG|CGA	MYCBP2	-	superfamily_Galactose-bd-like,superfamily_ARM-type_fold	ENSG00000005810		0.363	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	148	0.00	0	G	NM_015057		77655723	77655723	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	nonsense	105	18.60	24	SNP	1.000	A
MYH10	4628	genome.wustl.edu	37	17	8422030	8422030	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:8422030T>C	ENST00000269243.4	-	19	2468	c.2330A>G	c.(2329-2331)cAc>cGc	p.H777R	MYH10_ENST00000360416.3_Missense_Mutation_p.H808R|MYH10_ENST00000396239.1_Missense_Mutation_p.H798R|MYH10_ENST00000379980.4_Missense_Mutation_p.H793R	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	777	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCCTCTAAGTGTGCCAGAAC	0.413																																						dbGAP											0													95.0	89.0	91.0					17																	8422030		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2330A>G	17.37:g.8422030T>C	ENSP00000269243:p.His777Arg		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.H798R	ENST00000269243.4	37	c.2393	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550784	0.86127	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.95001	-0.47;-0.47;-3.58;-0.47	4.93	4.93	0.64822	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.94571	0.8251	L	0.50919	1.6	0.80722	D	1	D;P;D	0.55605	0.972;0.95;0.972	P;P;P	0.55785	0.453;0.784;0.453	D	0.93084	0.6494	10	0.25106	T	0.35	.	14.7985	0.69894	0.0:0.0:0.0:1.0	.	786;808;777	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	R	777;808;798;793	ENSP00000269243:H777R;ENSP00000353590:H808R;ENSP00000379539:H798R;ENSP00000369315:H793R	ENSP00000269243:H777R	H	-	2	0	MYH10	8362755	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.825000	0.86693	2.078000	0.62432	0.524000	0.50904	CAC	MYH10	-	smart_Myosin_head_motor_dom	ENSG00000133026		0.413	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	104	0.00	0	T			8422030	8422030	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	missense	69	32.35	33	SNP	1.000	C
MYH4	4622	genome.wustl.edu	37	17	10351825	10351825	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:10351825T>A	ENST00000255381.2	-	33	4654	c.4544A>T	c.(4543-4545)gAc>gTc	p.D1515V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1515					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCTGTCAGGTCAGAAATCTC	0.348																																						dbGAP											0													99.0	95.0	96.0					17																	10351825		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4544A>T	17.37:g.10351825T>A	ENSP00000255381:p.Asp1515Val			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1515V	ENST00000255381.2	37	c.4544	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065039	0.76187	.	.	ENSG00000141048	ENST00000255381	D	0.86627	-2.15	5.49	5.49	0.81192	Myosin tail (1);	0.000000	0.39020	U	0.001482	D	0.95629	0.8579	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97038	0.9755	10	0.87932	D	0	.	15.8819	0.79211	0.0:0.0:0.0:1.0	.	1515	Q9Y623	MYH4_HUMAN	V	1515	ENSP00000255381:D1515V	ENSP00000255381:D1515V	D	-	2	0	MYH4	10292550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.974000	0.88039	2.213000	0.71641	0.533000	0.62120	GAC	MYH4	-	pfam_Myosin_tail,superfamily_tRNA-bd_arm	ENSG00000264424		0.348	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	167	0.00	0	T	NM_017533		10351825	10351825	-1	no_errors	ENST00000255381	ensembl	human	known	69_37n	missense	69	59.41	101	SNP	1.000	A
MYH3	4621	genome.wustl.edu	37	17	10543402	10543402	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:10543402C>T	ENST00000583535.1	-	22	2680	c.2593G>A	c.(2593-2595)Gcc>Acc	p.A865T	MYH3_ENST00000226209.7_Missense_Mutation_p.A865T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	865					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCCGACTTGGCGAGTTCATCT	0.468																																						dbGAP											0													149.0	134.0	139.0					17																	10543402		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2593G>A	17.37:g.10543402C>T	ENSP00000464317:p.Ala865Thr		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.A865T	ENST00000583535.1	37	c.2593	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387089	0.61956	.	.	ENSG00000109063	ENST00000226209	D	0.83591	-1.74	5.54	5.54	0.83059	.	.	.	.	.	D	0.83524	0.5273	M	0.73319	2.225	0.50632	D	0.999887	B	0.19331	0.035	B	0.15870	0.014	T	0.79055	-0.1960	9	0.44086	T	0.13	.	19.8453	0.96705	0.0:1.0:0.0:0.0	.	865	P11055	MYH3_HUMAN	T	865	ENSP00000226209:A865T	ENSP00000226209:A865T	A	-	1	0	MYH3	10484127	1.000000	0.71417	0.948000	0.38648	0.975000	0.68041	7.814000	0.86154	2.754000	0.94517	0.655000	0.94253	GCC	MYH3	-	NULL	ENSG00000109063		0.468	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	387	0.00	0	C	NM_002470		10543402	10543402	-1	no_errors	ENST00000226209	ensembl	human	known	69_37n	missense	263	14.61	45	SNP	1.000	T
MYL7	58498	genome.wustl.edu	37	7	44179111	44179111	+	Intron	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:44179111C>T	ENST00000223364.3	-	6	453				MYL7_ENST00000458240.1_Intron|MYL7_ENST00000434895.1_Intron	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory							A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						AGGGGCTGGGCAGCCTCACCT	0.617																																						dbGAP											0													116.0	107.0	110.0					7																	44179111		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.426+8G>A	7.37:g.44179111C>T			B2R4L3	Silent	SNP	pfscan_EF_HAND_2	p.L72	ENST00000223364.3	37	c.216	CCDS5478.1	7																																																																																			MYL7	-	NULL	ENSG00000106631		0.617	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL7	HGNC	protein_coding	OTTHUMT00000059446.4	66	0.00	0	C	NM_021223		44179111	44179111	-1	no_errors	ENST00000446581	ensembl	human	novel	69_37n	silent	47	15.52	9	SNP	0.000	T
MYO5B	4645	genome.wustl.edu	37	18	47404165	47404165	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr18:47404165C>T	ENST00000285039.7	-	25	3663	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	MYO5B_ENST00000324581.6_Missense_Mutation_p.G263R|MYO5B_ENST00000587895.1_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1122					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAGTGTCTCCGATCTCAGAT	0.507																																						dbGAP											0													181.0	179.0	179.0					18																	47404165		1985	4169	6154	-	-	-	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3364G>A	18.37:g.47404165C>T	ENSP00000285039:p.Gly1122Arg		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G1122R	ENST00000285039.7	37	c.3364	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234388	0.79800	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.18338	2.22;2.22	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	N	0.08118	0	0.80722	D	1	P;D	0.89917	0.679;1.0	B;D	0.97110	0.111;1.0	T	0.26395	-1.0104	10	0.25106	T	0.35	.	19.8926	0.96935	0.0:1.0:0.0:0.0	.	1122;263	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	R	1122;263	ENSP00000285039:G1122R;ENSP00000315531:G263R	ENSP00000285039:G1122R	G	-	1	0	MYO5B	45658163	1.000000	0.71417	0.981000	0.43875	0.328000	0.28507	5.470000	0.66756	2.806000	0.96561	0.655000	0.94253	GGA	MYO5B	-	NULL	ENSG00000167306		0.507	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	300	0.00	0	C			47404165	47404165	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	missense	166	37.83	101	SNP	1.000	T
NAALADL1	10004	genome.wustl.edu	37	11	64813977	64813977	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:64813977A>G	ENST00000358658.3	-	14	1648	c.1621T>C	c.(1621-1623)Tac>Cac	p.Y541H	NAALADL1_ENST00000356632.3_Missense_Mutation_p.Y506H|NAALADL1_ENST00000355721.3_Missense_Mutation_p.Y500H|NAALADL1_ENST00000340252.4_Missense_Mutation_p.Y592H|NAALADL1_ENST00000339885.2_Silent_p.S510S|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000355369.2_Intron|NAALADL1_ENST00000528884.1_Intron	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	541	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TAGGTGGGGTAGATCCTGGCT	0.552																																						dbGAP											0													128.0	107.0	114.0					11																	64813977		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1621T>C	11.37:g.64813977A>G	ENSP00000351484:p.Tyr541His		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.Y541H	ENST00000358658.3	37	c.1621	CCDS31604.1	11	.	.	.	.	.	.	.	.	.	.	A	24.0	4.478976	0.84747	.	.	ENSG00000168060	ENST00000358658;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632;ENST00000530139	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.53	5.53	0.82687	Peptidase M28 (1);	0.123606	0.56097	D	0.000025	T	0.63402	0.2508	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67313	-0.5702	10	0.87932	D	0	-29.7051	13.6216	0.62140	1.0:0.0:0.0:0.0	.	541	Q9UQQ1	NALDL_HUMAN	H	541;541;592;500;506;17	ENSP00000351484:Y541H;ENSP00000344244:Y592H;ENSP00000347955:Y500H;ENSP00000349045:Y506H;ENSP00000434233:Y17H	ENSP00000344244:Y592H	Y	-	1	0	NAALADL1	64570553	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.101000	0.89546	2.124000	0.65301	0.459000	0.35465	TAC	NAALADL1	-	pfam_Peptidase_M28	ENSG00000168060		0.552	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL1	HGNC	protein_coding	OTTHUMT00000385162.1	144	0.00	0	A	NM_005468		64813977	64813977	-1	no_errors	ENST00000358658	ensembl	human	known	69_37n	missense	218	12.10	30	SNP	1.000	G
NAIP	4671	genome.wustl.edu	37	5	70308556	70308556	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:70308556delT	ENST00000517649.1	-	4	477	c.187delA	c.(187-189)aggfs	p.R63fs	NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Frame_Shift_Del_p.R63fs|NAIP_ENST00000194097.4_Frame_Shift_Del_p.R63fs	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	63					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTCTTTAACCTTTTTGCTTCA	0.463																																						dbGAP											0													165.0	150.0	155.0					5																	70308556		2202	4296	6498	-	-	-	SO:0001589	frameshift_variant	0			U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.187delA	5.37:g.70308556delT	ENSP00000428657:p.Arg63fs		B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Frame_Shift_Del	DEL	pfam_BIR,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR	p.R63fs	ENST00000517649.1	37	c.187	CCDS4009.1	5																																																																																			NAIP	-	pfam_BIR,smart_BIR,pfscan_BIR	ENSG00000249437		0.463	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIP	HGNC	protein_coding	OTTHUMT00000372649.6	255	0.00	0	T	NM_004536		70308556	70308556	-1	no_errors	ENST00000194097	ensembl	human	known	69_37n	frame_shift_del	136	14.91	24	DEL	0.662	-
NAPSA	9476	genome.wustl.edu	37	19	50865322	50865322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:50865322C>A	ENST00000253719.2	-	3	461	c.253G>T	c.(253-255)Gga>Tga	p.G85*	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	85					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GGAGGCGTTCCCAGCCCAATT	0.547																																						dbGAP											0													47.0	42.0	44.0					19																	50865322		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.253G>T	19.37:g.50865322C>A	ENSP00000253719:p.Gly85*		Q8WWD9	Nonsense_Mutation	SNP	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.G85*	ENST00000253719.2	37	c.253	CCDS12794.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.659620	0.96734	.	.	ENSG00000131400	ENST00000253719	.	.	.	3.95	3.95	0.45737	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8312	0.63382	0.0:1.0:0.0:0.0	.	.	.	.	X	85	.	ENSP00000253719:G85X	G	-	1	0	NAPSA	55557134	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.142000	0.77339	1.912000	0.55364	0.484000	0.47621	GGA	NAPSA	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	ENSG00000131400		0.547	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPSA	HGNC	protein_coding	OTTHUMT00000464714.1	78	0.00	0	C	NM_004851		50865322	50865322	-1	no_errors	ENST00000253719	ensembl	human	known	69_37n	nonsense	97	12.61	14	SNP	1.000	A
NAV1	89796	genome.wustl.edu	37	1	201780818	201780818	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:201780818G>A	ENST00000367296.4	+	25	5305	c.4885G>A	c.(4885-4887)Gac>Aac	p.D1629N	NAV1_ENST00000367300.3_Missense_Mutation_p.D1569N|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.D1582N|NAV1_ENST00000367297.4_Missense_Mutation_p.D1621N|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.D1626N|NAV1_ENST00000367295.1_Missense_Mutation_p.D1235N	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1629					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCTATTGGATGACCTGAGTGA	0.468																																						dbGAP											0													159.0	155.0	156.0					1																	201780818		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4885G>A	1.37:g.201780818G>A	ENSP00000356265:p.Asp1629Asn		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.D1629N	ENST00000367296.4	37	c.4885	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574908	0.45902	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295;ENST00000367301	D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	N	0.14661	0.345	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.83863	0.0269	10	0.02654	T	1	-39.6931	18.893	0.92412	0.0:0.0:1.0:0.0	.	1235;1626	Q8NEY1-5;Q8NEY1-3	.;.	N	1582;1629;1626;1621;1569;1235;37	ENSP00000356271:D1582N;ENSP00000356265:D1629N;ENSP00000295624:D1626N;ENSP00000356266:D1621N;ENSP00000356269:D1569N;ENSP00000356264:D1235N	ENSP00000295624:D1626N	D	+	1	0	NAV1	200047441	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.746000	0.68681	2.634000	0.89283	0.555000	0.69702	GAC	NAV1	-	smart_AAA+_ATPase	ENSG00000134369		0.468	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	178	0.00	0	G	NM_020443		201780818	201780818	+1	no_errors	ENST00000367296	ensembl	human	known	69_37n	missense	156	17.89	34	SNP	1.000	A
NBEA	26960	genome.wustl.edu	37	13	35632987	35632987	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:35632987G>C	ENST00000400445.3	+	8	1760	c.1226G>C	c.(1225-1227)gGa>gCa	p.G409A	NBEA_ENST00000379939.2_Missense_Mutation_p.G409A|NBEA_ENST00000540320.1_Missense_Mutation_p.G409A|NBEA_ENST00000310336.4_Missense_Mutation_p.G409A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	409					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CATCAGTTAGGACCTGGATAT	0.343																																						dbGAP											0													36.0	32.0	34.0					13																	35632987		1815	4073	5888	-	-	-	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1226G>C	13.37:g.35632987G>C	ENSP00000383295:p.Gly409Ala		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.G409A	ENST00000400445.3	37	c.1226	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676233	0.88445	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.81688	0.4875	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83885	0.0281	10	0.66056	D	0.02	.	19.161	0.93531	0.0:0.0:1.0:0.0	.	409	Q5T321	.	A	409	ENSP00000440951:G409A;ENSP00000383295:G409A;ENSP00000369271:G409A;ENSP00000308534:G409A	ENSP00000308534:G409A	G	+	2	0	NBEA	34530987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.613000	0.88420	0.650000	0.86243	GGA	NBEA	-	NULL	ENSG00000172915		0.343	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		101	0.00	0	G	NM_015678		35632987	35632987	+1	no_errors	ENST00000310336	ensembl	human	known	69_37n	missense	87	11.22	11	SNP	1.000	C
NCAPH	23397	genome.wustl.edu	37	2	97019119	97019119	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:97019119G>A	ENST00000240423.4	+	8	1029	c.986G>A	c.(985-987)aGt>aAt	p.S329N	NCAPH_ENST00000427946.1_Missense_Mutation_p.S193N|NCAPH_ENST00000455200.1_Missense_Mutation_p.S318N	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	329					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CAGTGGGACAGTGAAACACAT	0.512																																						dbGAP											0													127.0	106.0	113.0					2																	97019119		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.986G>A	2.37:g.97019119G>A	ENSP00000240423:p.Ser329Asn		B4E189|Q8TB87	Missense_Mutation	SNP	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	p.S329N	ENST00000240423.4	37	c.986	CCDS2021.1	2	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615492	0.46631	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000456906;ENST00000455200	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.76	3.95	0.45737	.	0.179277	0.64402	N	0.000012	T	0.36963	0.0986	L	0.59912	1.85	0.33943	D	0.643463	B;B;B;B	0.22746	0.041;0.041;0.042;0.074	B;B;B;B	0.24701	0.055;0.055;0.038;0.055	T	0.44937	-0.9295	10	0.17369	T	0.5	-7.4317	10.8024	0.46495	0.1583:0.0:0.8417:0.0	.	305;318;318;329	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	N	329;193;318;210;318	ENSP00000240423:S329N;ENSP00000400774:S193N;ENSP00000405237:S318N;ENSP00000401227:S210N;ENSP00000407308:S318N	ENSP00000240423:S329N	S	+	2	0	NCAPH	96382846	0.994000	0.37717	1.000000	0.80357	0.990000	0.78478	1.387000	0.34430	1.451000	0.47736	0.655000	0.94253	AGT	NCAPH	-	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	ENSG00000121152		0.512	NCAPH-001	KNOWN	basic|CCDS	protein_coding	NCAPH	HGNC	protein_coding	OTTHUMT00000252842.2	127	0.00	0	G	NM_015341		97019119	97019119	+1	no_errors	ENST00000240423	ensembl	human	known	69_37n	missense	173	12.18	24	SNP	1.000	A
NCL	4691	genome.wustl.edu	37	2	232326496	232326496	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:232326496C>G	ENST00000322723.4	-	3	608	c.368G>C	c.(367-369)gGt>gCt	p.G123A	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	123	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ACCCTTCTTACCAGGAGTTGC	0.527																																						dbGAP											0													316.0	239.0	265.0					2																	232326496		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.368G>C	2.37:g.232326496C>G	ENSP00000318195:p.Gly123Ala		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.G123A	ENST00000322723.4	37	c.368	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444661	0.43429	.	.	ENSG00000115053	ENST00000322723;ENST00000322732;ENST00000454824;ENST00000417652;ENST00000453992;ENST00000436894	T;T;T;T;T	0.37235	1.21;1.82;1.86;1.46;1.43	4.61	4.61	0.57282	.	0.337248	0.32134	N	0.006532	T	0.22936	0.0554	L	0.38175	1.15	0.27508	N	0.951778	P	0.43750	0.816	B	0.34093	0.175	T	0.22871	-1.0204	10	0.42905	T	0.14	-12.6636	8.8754	0.35343	0.0:0.8892:0.0:0.1108	.	123	P19338	NUCL_HUMAN	A	123;123;107;107;107;107	ENSP00000318195:G123A;ENSP00000401620:G107A;ENSP00000392747:G107A;ENSP00000413775:G107A;ENSP00000401322:G107A	ENSP00000318195:G123A	G	-	2	0	NCL	232034740	0.965000	0.33210	0.985000	0.45067	0.967000	0.64934	-0.280000	0.08468	2.515000	0.84797	0.555000	0.69702	GGT	NCL	-	NULL	ENSG00000115053		0.527	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	444	0.22	1	C	NM_005381		232326496	232326496	-1	no_errors	ENST00000322723	ensembl	human	known	69_37n	missense	336	18.40	76	SNP	0.840	G
NEXN	91624	genome.wustl.edu	37	1	78392424	78392424	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:78392424delA	ENST00000334785.7	+	8	895	c.711delA	c.(709-711)gcafs	p.A237fs	NEXN_ENST00000457030.1_Frame_Shift_Del_p.A223fs|NEXN_ENST00000330010.8_Frame_Shift_Del_p.A173fs	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAAGTGAAGCAAAAAAAGAAT	0.358																																						dbGAP											0													73.0	72.0	73.0					1																	78392424		1810	4068	5878	-	-	-	SO:0001589	frameshift_variant	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.711delA	1.37:g.78392424delA	ENSP00000333938:p.Ala237fs			Frame_Shift_Del	DEL	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.E240fs	ENST00000334785.7	37	c.711	CCDS41351.1	1																																																																																			NEXN	-	NULL	ENSG00000162614		0.358	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	62	0.00	0	A	NM_144573		78392424	78392424	+1	no_errors	ENST00000334785	ensembl	human	known	69_37n	frame_shift_del	32	25.58	11	DEL	0.000	-
NDUFS2	4720	genome.wustl.edu	37	1	161183502	161183502	+	Missense_Mutation	SNP	G	G	A	rs186476170	byFrequency	TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:161183502G>A	ENST00000367993.3	+	13	1724	c.1276G>A	c.(1276-1278)Gct>Act	p.A426T	FCER1G_ENST00000289902.1_5'Flank|NDUFS2_ENST00000465923.1_3'UTR|FCER1G_ENST00000367992.3_5'Flank|NDUFS2_ENST00000392179.4_Missense_Mutation_p.A426T	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	426					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	CAAGATCAAGGCTCCTGGTTT	0.448																																						dbGAP											0													121.0	114.0	117.0					1																	161183502		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.1276G>A	1.37:g.161183502G>A	ENSP00000356972:p.Ala426Thr		D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	pfam_NADH_Q_OxRdtase_suD,tigrfam_NADH_DH_1_suD	p.A426T	ENST00000367993.3	37	c.1276	CCDS1224.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.666424	0.96745	.	.	ENSG00000158864	ENST00000367993;ENST00000392179	D;D	0.85629	-2.01;-2.01	5.53	5.53	0.82687	NADH-quinone oxidoreductase, subunit D (1);	0.051918	0.85682	D	0.000000	D	0.88321	0.6405	L	0.56124	1.755	0.50039	D	0.999842	P;P;P	0.50066	0.635;0.931;0.931	P;P;P	0.59546	0.461;0.859;0.859	D	0.88322	0.2963	9	0.66056	D	0.02	.	18.396	0.90499	0.0:0.0:1.0:0.0	.	375;426;426	B7Z792;Q53HG2;O75306	.;.;NDUS2_HUMAN	T	426	ENSP00000356972:A426T;ENSP00000376018:A426T	ENSP00000356972:A426T	A	+	1	0	NDUFS2	159450126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.966000	0.93397	2.882000	0.98803	0.655000	0.94253	GCT	NDUFS2	-	pfam_NADH_Q_OxRdtase_suD,tigrfam_NADH_DH_1_suD	ENSG00000158864		0.448	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	137	0.00	0	G	NM_004550		161183502	161183502	+1	no_errors	ENST00000367993	ensembl	human	known	69_37n	missense	141	17.06	29	SNP	1.000	A
NKTR	4820	genome.wustl.edu	37	3	42679486	42679486	+	Frame_Shift_Del	DEL	A	A	-	rs150528581	byFrequency	TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:42679486delA	ENST00000232978.8	+	13	2478	c.2290delA	c.(2290-2292)aaafs	p.K765fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	765	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATCCAGTGGGAAAAAAAATAG	0.378																																						dbGAP											0													86.0	86.0	86.0					3																	42679486		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2290delA	3.37:g.42679486delA	ENSP00000232978:p.Lys765fs			Frame_Shift_Del	DEL	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	p.N766fs	ENST00000232978.8	37	c.2290	CCDS2702.1	3																																																																																			NKTR	-	NULL	ENSG00000114857		0.378	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	70	0.00	0	A	NM_005385		42679486	42679486	+1	no_errors	ENST00000232978	ensembl	human	known	69_37n	frame_shift_del	59	13.24	9	DEL	0.001	-
NLGN4X	57502	genome.wustl.edu	37	X	5821330	5821330	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:5821330G>A	ENST00000381095.3	-	5	2016	c.1389C>T	c.(1387-1389)taC>taT	p.Y463Y	NLGN4X_ENST00000381092.1_Silent_p.Y463Y|NLGN4X_ENST00000275857.6_Silent_p.Y463Y|NLGN4X_ENST00000381093.2_Silent_p.Y483Y|NLGN4X_ENST00000538097.1_Silent_p.Y463Y	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	463					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGGGGAGCCGTACTGCGCGT	0.612																																						dbGAP											0													38.0	34.0	36.0					X																	5821330		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1389C>T	X.37:g.5821330G>A			Q6UX10|Q9ULG0	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.Y483	ENST00000381095.3	37	c.1449	CCDS14126.1	X																																																																																			NLGN4X	-	pfam_CarbesteraseB	ENSG00000146938		0.612	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	30	0.00	0	G	NM_020742		5821330	5821330	-1	no_errors	ENST00000381093	ensembl	human	known	69_37n	silent	30	23.08	9	SNP	0.967	A
NLRP1	22861	genome.wustl.edu	37	17	5463177	5463177	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:5463177T>A	ENST00000572272.1	-	4	838	c.839A>T	c.(838-840)cAg>cTg	p.Q280L	NLRP1_ENST00000262467.5_Missense_Mutation_p.Q280L|NLRP1_ENST00000354411.3_Missense_Mutation_p.Q280L|NLRP1_ENST00000345221.3_Missense_Mutation_p.Q280L|NLRP1_ENST00000577119.1_Missense_Mutation_p.Q280L|NLRP1_ENST00000269280.4_Missense_Mutation_p.Q280L|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	280					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AAGTAGCAGCTGTGTGAATTT	0.498																																						dbGAP											0													235.0	239.0	238.0					17																	5463177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.839A>T	17.37:g.5463177T>A	ENSP00000460475:p.Gln280Leu		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.Q280L	ENST00000572272.1	37	c.839	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	T	14.67	2.606215	0.46527	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.71103	-0.54;-0.54;-0.52;-0.51;-0.52	4.49	4.49	0.54785	.	0.411624	0.17930	N	0.157186	T	0.73583	0.3605	L	0.48642	1.525	0.09310	N	0.999998	D;D;D;D;P	0.62365	0.991;0.991;0.972;0.983;0.938	P;P;P;P;P	0.56434	0.798;0.798;0.632;0.798;0.632	T	0.65232	-0.6218	10	0.59425	D	0.04	.	10.4123	0.44301	0.0:0.0:0.0:1.0	.	280;280;280;280;280	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	L	280	ENSP00000442029:Q280L;ENSP00000262467:Q280L;ENSP00000269280:Q280L;ENSP00000346390:Q280L;ENSP00000324366:Q280L	ENSP00000262467:Q280L	Q	-	2	0	NLRP1	5403901	0.189000	0.23263	0.094000	0.20943	0.302000	0.27658	1.478000	0.35442	2.023000	0.59567	0.529000	0.55759	CAG	NLRP1	-	NULL	ENSG00000091592		0.498	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	265	0.00	0	T	NM_033004		5463177	5463177	-1	no_errors	ENST00000572272	ensembl	human	known	69_37n	missense	129	27.93	50	SNP	0.376	A
NLRX1	79671	genome.wustl.edu	37	11	119050981	119050981	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:119050981C>T	ENST00000409109.1	+	7	2838	c.2251C>T	c.(2251-2253)Cgt>Tgt	p.R751C	NLRX1_ENST00000525863.1_Missense_Mutation_p.R751C|NLRX1_ENST00000409991.1_Missense_Mutation_p.R751C|NLRX1_ENST00000409265.4_Missense_Mutation_p.R751C|NLRX1_ENST00000292199.2_Missense_Mutation_p.R751C	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	751	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGTCTTCCTGCGTGCCCGGAA	0.597																																						dbGAP											0													27.0	26.0	26.0					11																	119050981		2199	4286	6485	-	-	-	SO:0001583	missense	0			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2251C>T	11.37:g.119050981C>T	ENSP00000387334:p.Arg751Cys		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.R751C	ENST00000409109.1	37	c.2251	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338735	0.41398	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	4.99	4.99	0.66335	.	0.067059	0.56097	D	0.000021	T	0.59459	0.2195	L	0.27053	0.805	0.48087	D	0.999583	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.974	T	0.61874	-0.6973	10	0.54805	T	0.06	.	13.2665	0.60137	0.1586:0.8414:0.0:0.0	.	751;751	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	C	751	ENSP00000386851:R751C;ENSP00000292199:R751C;ENSP00000386858:R751C;ENSP00000387334:R751C;ENSP00000433442:R751C	ENSP00000292199:R751C	R	+	1	0	NLRX1	118556191	1.000000	0.71417	0.995000	0.50966	0.048000	0.14542	4.848000	0.62874	2.314000	0.78098	0.313000	0.20887	CGT	NLRX1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000160703		0.597	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	14	0.00	0	C	NM_170722		119050981	119050981	+1	no_errors	ENST00000292199	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	1.000	T
NOL6	65083	genome.wustl.edu	37	9	33467507	33467507	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:33467507A>T	ENST00000379471.2	-	13	1697	c.1610T>A	c.(1609-1611)aTc>aAc	p.I537N	NOL6_ENST00000455041.2_Missense_Mutation_p.I485N|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	537					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATCTTGGCTGATGTCCCACTG	0.562																																						dbGAP											0													92.0	77.0	82.0					9																	33467507		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1610T>A	9.37:g.33467507A>T	ENSP00000368784:p.Ile537Asn		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.I537N	ENST00000379471.2	37	c.1610		9	.	.	.	.	.	.	.	.	.	.	A	23.0	4.367026	0.82463	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.06	5.06	0.68205	.	0.058588	0.64402	D	0.000001	T	0.62938	0.2469	L	0.55990	1.75	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;0.999	D;D;D;D;D	0.79108	0.992;0.969;0.969;0.969;0.982	T	0.64989	-0.6277	10	0.59425	D	0.04	.	13.5302	0.61617	1.0:0.0:0.0:0.0	.	485;534;537;537;537	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	N	537;537;537;93;537;485	ENSP00000313978:I537N;ENSP00000297990:I537N;ENSP00000368784:I537N;ENSP00000395915:I485N	ENSP00000297990:I537N	I	-	2	0	NOL6	33457507	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	4.739000	0.62080	2.131000	0.65755	0.533000	0.62120	ATC	NOL6	-	pfam_Nrap	ENSG00000165271		0.562	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	123	0.00	0	A	NM_022917		33467507	33467507	-1	no_errors	ENST00000297990	ensembl	human	known	69_37n	missense	138	26.98	51	SNP	1.000	T
NOTCH1	4851	genome.wustl.edu	37	9	139390805	139390805	+	Frame_Shift_Del	DEL	G	G	-	rs369470875		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:139390805delG	ENST00000277541.6	-	34	7461	c.7386delC	c.(7384-7386)cccfs	p.P2462fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2462					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P2463fs*15(2)|p.A2464fs*14(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGGCAGGGCGGGGCTCTCCT	0.697			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												dbGAP		Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	3	Complex - frameshift(3)	haematopoietic_and_lymphoid_tissue(3)											10.0	12.0	12.0					9																	139390805		2099	4199	6298	-	-	-	SO:0001589	frameshift_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7386delC	9.37:g.139390805delG	ENSP00000277541:p.Pro2462fs		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_1,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A2463fs	ENST00000277541.6	37	c.7386	CCDS43905.1	9																																																																																			NOTCH1	-	pirsf_Notch	ENSG00000148400		0.697	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	35	0.00	0	G	NM_017617		139390805	139390805	-1	no_errors	ENST00000277541	ensembl	human	known	69_37n	frame_shift_del	22	14.81	4	DEL	0.996	-
NOX1	27035	genome.wustl.edu	37	X	100105159	100105159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:100105159G>A	ENST00000372966.3	-	9	1319	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	NOX1_ENST00000372960.4_Nonsense_Mutation_p.Q335*|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Nonsense_Mutation_p.Q372*	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	372	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GGTGAATATTGTTGTTCGAAA	0.453																																						dbGAP											0													79.0	78.0	78.0					X																	100105159		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1114C>T	X.37:g.100105159G>A	ENSP00000362057:p.Gln372*		A8K836|O95691|Q2PP02	Nonsense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.Q372*	ENST00000372966.3	37	c.1114	CCDS14474.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.63|17.63	3.437603|3.437603	0.62955|0.62955	.|.	.|.	ENSG00000007952|ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960;ENST00000372957|ENST00000427768	.|.	.|.	.|.	3.83|3.83	3.83|3.83	0.44106|0.44106	.|.	0.122386|.	0.35262|.	N|.	0.003328|.	.|T	.|0.62853	.|0.2462	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70934	.|-0.4737	.|3	0.09338|.	T|.	0.73|.	.|.	13.6629|13.6629	0.62378|0.62378	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	372;372;335;61|56	.|.	ENSP00000217885:Q372X|.	Q|T	-|-	1|2	0|0	NOX1|NOX1	99991815|99991815	0.027000|0.027000	0.19231|0.19231	0.196000|0.196000	0.23383|0.23383	0.565000|0.565000	0.35776|0.35776	0.987000|0.987000	0.29603|0.29603	1.748000|1.748000	0.51833|0.51833	0.422000|0.422000	0.28245|0.28245	CAA|ACA	NOX1	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000007952		0.453	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX1	HGNC	protein_coding	OTTHUMT00000057495.1	160	0.00	0	G	NM_007052		100105159	100105159	-1	no_errors	ENST00000372966	ensembl	human	known	69_37n	nonsense	113	18.12	25	SNP	0.966	A
NPAT	4863	genome.wustl.edu	37	11	108062883	108062883	+	Silent	SNP	A	A	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:108062883A>C	ENST00000278612.8	-	4	357	c.252T>G	c.(250-252)tcT>tcG	p.S84S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	84	Interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCTTCCATAGAGATGACATTA	0.328																																						dbGAP											0													211.0	185.0	193.0					11																	108062883		1827	4080	5907	-	-	-	SO:0001819	synonymous_variant	0			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.252T>G	11.37:g.108062883A>C			A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.S84	ENST00000278612.8	37	c.252	CCDS41710.1	11																																																																																			NPAT	-	NULL	ENSG00000149308		0.328	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	HGNC	protein_coding	OTTHUMT00000389506.2	227	0.00	0	A	NM_002519		108062883	108062883	-1	no_errors	ENST00000278612	ensembl	human	known	69_37n	silent	306	21.54	84	SNP	0.999	C
NPVF	64111	genome.wustl.edu	37	7	25266578	25266578	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:25266578delT	ENST00000222674.2	-	2	252	c.206delA	c.(205-207)aatfs	p.N69fs		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	69					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTTAATAACATTTTTTGGTCC	0.383																																						dbGAP											0													126.0	131.0	129.0					7																	25266578		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.206delA	7.37:g.25266578delT	ENSP00000222674:p.Asn69fs		A4D164|Q7LE27|Q96PI9	Frame_Shift_Del	DEL	NULL	p.N69fs	ENST00000222674.2	37	c.206	CCDS5395.1	7																																																																																			NPVF	-	NULL	ENSG00000105954		0.383	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPVF	HGNC	protein_coding	OTTHUMT00000250315.1	144	0.00	0	T	NM_022150		25266578	25266578	-1	no_errors	ENST00000222674	ensembl	human	known	69_37n	frame_shift_del	101	21.09	27	DEL	0.001	-
NRD1	4898	genome.wustl.edu	37	1	52344171	52344172	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:52344171_52344172delAG	ENST00000354831.7	-	1	305_306	c.116_117delCT	c.(115-117)tctfs	p.S39fs	NRD1_ENST00000539524.1_5'Flank|NRD1_ENST00000352171.7_Frame_Shift_Del_p.S39fs|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	39					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TGGCAGCAGCAGAGTCTTCGCA	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.116_117delCT	1.37:g.52344173_52344174delAG	ENSP00000346890:p.Ser39fs		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Del	DEL	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.S39fs	ENST00000354831.7	37	c.117_116	CCDS559.1	1																																																																																			NRD1	-	NULL	ENSG00000078618		0.624	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	27	0.00	0	AG	NM_002525		52344171	52344172	-1	no_errors	ENST00000354831	ensembl	human	known	69_37n	frame_shift_del	36	21.74	10	DEL	0.786:0.820	-
NRG2	9542	genome.wustl.edu	37	5	139231232	139231232	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:139231232G>A	ENST00000361474.1	-	9	1953	c.1729C>T	c.(1729-1731)Cac>Tac	p.H577Y	NRG2_ENST00000358522.3_Missense_Mutation_p.H579Y|NRG2_ENST00000545385.1_Missense_Mutation_p.H579Y|NRG2_ENST00000541337.1_Missense_Mutation_p.H511Y|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000289422.7_Missense_Mutation_p.H585Y|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289409.4_Missense_Mutation_p.H571Y|NRG2_ENST00000340391.3_Missense_Mutation_p.H374Y	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	577					embryo development (GO:0009790)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGAATCGTGATAGGGTGGC	0.652																																						dbGAP											0													71.0	66.0	68.0					5																	139231232		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1729C>T	5.37:g.139231232G>A	ENSP00000354910:p.His577Tyr			Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like	p.H579Y	ENST00000361474.1	37	c.1735	CCDS4217.1	5	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454706	0.43634	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.3	5.3	0.74995	Neuregulin 1-related, C-terminal (1);	0.142450	0.47852	D	0.000205	T	0.63686	0.2532	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.61697	0.988;0.99;0.988;0.988	P;P;P;P	0.60117	0.794;0.869;0.794;0.794	T	0.65894	-0.6057	10	0.66056	D	0.02	-13.4238	13.0341	0.58860	0.0:0.0:0.8394:0.1606	.	571;577;579;585	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	Y	511;585;577;585;579;374;571;579	ENSP00000444235:H511Y;ENSP00000289422:H585Y;ENSP00000354910:H577Y;ENSP00000438753:H579Y;ENSP00000342660:H374Y;ENSP00000289409:H571Y;ENSP00000351323:H579Y	ENSP00000289409:H571Y	H	-	1	0	NRG2	139211416	1.000000	0.71417	0.995000	0.50966	0.016000	0.09150	3.373000	0.52394	2.488000	0.83962	0.655000	0.94253	CAC	NRG2	-	pfam_Neuregulin_1_C	ENSG00000158458		0.652	NRG2-001	KNOWN	basic|CCDS	protein_coding	NRG2	HGNC	protein_coding	OTTHUMT00000251340.1	32	0.00	0	G	NM_013982		139231232	139231232	-1	no_errors	ENST00000545385	ensembl	human	known	69_37n	missense	24	33.33	12	SNP	1.000	A
NRK	203447	genome.wustl.edu	37	X	105132358	105132358	+	Silent	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:105132358C>A	ENST00000243300.9	+	5	627	c.324C>A	c.(322-324)tcC>tcA	p.S108S	NRK_ENST00000536164.1_Silent_p.S108S|NRK_ENST00000428173.2_Silent_p.S108S	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S108S(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACATTGTGTCCTTCTATGGAG	0.398										HNSCC(51;0.14)																												dbGAP											1	Substitution - coding silent(1)	ovary(1)											111.0	91.0	98.0					X																	105132358		1897	4100	5997	-	-	-	SO:0001819	synonymous_variant	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.324C>A	X.37:g.105132358C>A			Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.S108	ENST00000243300.9	37	c.324		X																																																																																			NRK	-	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	ENSG00000123572		0.398	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	223	0.00	0	C	NM_198465		105132358	105132358	+1	no_errors	ENST00000428173	ensembl	human	known	69_37n	silent	149	19.02	35	SNP	0.985	A
NRXN2	9379	genome.wustl.edu	37	11	64428483	64428483	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:64428483G>T	ENST00000377551.1	-	9	2138	c.1927C>A	c.(1927-1929)Cca>Aca	p.P643T	NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000265459.6_Missense_Mutation_p.P643T|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.P636T|NRXN2_ENST00000377559.3_Missense_Mutation_p.P612T			Q9P2S2	NRX2A_HUMAN	neurexin 2	643	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CACACCTCTGGGGGCAGGGGC	0.677																																						dbGAP											0													26.0	27.0	27.0					11																	64428483		2200	4297	6497	-	-	-	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1927C>A	11.37:g.64428483G>T	ENSP00000366774:p.Pro643Thr		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.P643T	ENST00000377551.1	37	c.1927	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	G	9.815	1.184155	0.21870	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.62232	0.04;0.09;0.04;0.14	4.8	3.86	0.44501	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42964	U	0.000631	T	0.57388	0.2050	N	0.13198	0.31	0.51482	D	0.999927	B;B;D	0.89917	0.146;0.043;1.0	B;B;D	0.97110	0.147;0.07;1.0	T	0.55075	-0.8197	10	0.02654	T	1	.	11.8409	0.52353	0.0:0.0:0.8236:0.1764	.	612;643;389	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	T	643;612;643;612;636	ENSP00000366774:P643T;ENSP00000366782:P612T;ENSP00000265459:P643T;ENSP00000386416:P636T	ENSP00000265459:P643T	P	-	1	0	NRXN2	64185059	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.872000	0.48467	1.192000	0.43071	0.555000	0.69702	CCA	NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.677	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	16	0.00	0	G	NM_015080		64428483	64428483	-1	no_errors	ENST00000265459	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	1.000	T
NTNG2	84628	genome.wustl.edu	37	9	135102255	135102255	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:135102255G>A	ENST00000393229.3	+	4	1653	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	NTNG2_ENST00000393228.4_Missense_Mutation_p.A293T|NTNG2_ENST00000360670.3_Missense_Mutation_p.A293T|NTNG2_ENST00000372179.3_Missense_Mutation_p.A293T	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	293	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CAACCTGCACGCCAACCTGTG	0.652																																						dbGAP											0													39.0	33.0	35.0					9																	135102255		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.877G>A	9.37:g.135102255G>A	ENSP00000376921:p.Ala293Thr		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.A293T	ENST00000393229.3	37	c.877	CCDS6946.1	9	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113775	0.77210	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.06	5.06	0.68205	EGF-like, laminin (3);	0.066905	0.64402	D	0.000019	T	0.75882	0.3910	M	0.89534	3.04	0.53688	D	0.999972	D	0.62365	0.991	P	0.48921	0.595	D	0.83365	0.0004	10	0.87932	D	0	.	17.4033	0.87466	0.0:0.0:1.0:0.0	.	293	Q96CW9	NTNG2_HUMAN	T	293	ENSP00000376921:A293T;ENSP00000376920:A293T;ENSP00000353888:A293T;ENSP00000361252:A293T	ENSP00000353888:A293T	A	+	1	0	NTNG2	134092076	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	6.295000	0.72744	2.349000	0.79799	0.313000	0.20887	GCC	NTNG2	-	pfam_EGF_laminin,smart_EGF_laminin	ENSG00000196358		0.652	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	19	0.00	0	G	NM_032536		135102255	135102255	+1	no_errors	ENST00000360670	ensembl	human	known	69_37n	missense	6	36.36	4	SNP	1.000	A
NUP160	23279	genome.wustl.edu	37	11	47800714	47800714	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:47800714G>A	ENST00000378460.2	-	36	4300	c.4254C>T	c.(4252-4254)gaC>gaT	p.D1418D	NUP160_ENST00000530326.1_Silent_p.D1217D	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1418					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTTGCTGGTAGTCCTCCAATT	0.368																																						dbGAP											0													151.0	125.0	134.0					11																	47800714		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.4254C>T	11.37:g.47800714G>A			B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	pfam_Nucleoporin_Nup160	p.D1418	ENST00000378460.2	37	c.4254	CCDS31484.1	11																																																																																			NUP160	-	NULL	ENSG00000030066		0.368	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	135	0.00	0	G	NM_015231		47800714	47800714	-1	no_errors	ENST00000378460	ensembl	human	known	69_37n	silent	131	12.67	19	SNP	1.000	A
NUP160	23279	genome.wustl.edu	37	11	47819397	47819397	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:47819397G>T	ENST00000378460.2	-	27	3269	c.3223C>A	c.(3223-3225)Ctt>Att	p.L1075I	NUP160_ENST00000528071.1_Missense_Mutation_p.L961I|NUP160_ENST00000530326.1_Missense_Mutation_p.L961I	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1075					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGAGTCATAAGGTCCACAGCT	0.438																																						dbGAP											0													163.0	138.0	147.0					11																	47819397		2201	4298	6499	-	-	-	SO:0001583	missense	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3223C>A	11.37:g.47819397G>T	ENSP00000367721:p.Leu1075Ile		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.L1075I	ENST00000378460.2	37	c.3223	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056147	0.76074	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.50001	1.35;0.78;0.76	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.38241	0.1033	N	0.21194	0.64	0.58432	D	0.999997	B	0.26975	0.165	B	0.26770	0.073	T	0.10451	-1.0629	10	0.33940	T	0.23	.	18.826	0.92119	0.0:0.0:1.0:0.0	.	1075	Q12769	NU160_HUMAN	I	1075;961;961	ENSP00000367721:L1075I;ENSP00000433590:L961I;ENSP00000432367:L961I	ENSP00000367721:L1075I	L	-	1	0	NUP160	47775973	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.415000	0.80131	2.790000	0.95986	0.655000	0.94253	CTT	NUP160	-	NULL	ENSG00000030066		0.438	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	106	0.00	0	G	NM_015231		47819397	47819397	-1	no_errors	ENST00000378460	ensembl	human	known	69_37n	missense	67	16.25	13	SNP	1.000	T
NUP85	79902	genome.wustl.edu	37	17	73230808	73230810	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	GAC	GAC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:73230808_73230810delGAC	ENST00000245544.4	+	17	1763_1765	c.1692_1694delGAC	c.(1690-1695)atgacg>atg	p.T565del	NUP85_ENST00000579298.1_In_Frame_Del_p.T520del|NUP85_ENST00000541827.1_In_Frame_Del_p.T519del|NUP85_ENST00000540768.1_In_Frame_Del_p.T168del|NUP85_ENST00000579324.1_In_Frame_Del_p.T453del|NUP85_ENST00000447371.2_In_Frame_Del_p.T397del	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	565					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGTCCTTGATGACGTCTCGGATT	0.532																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1692_1694delGAC	17.37:g.73230808_73230810delGAC	ENSP00000245544:p.Thr565del		B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	In_Frame_Del	DEL	pfam_Nucleoporin_Nup85	p.T565in_frame_del	ENST00000245544.4	37	c.1692_1694	CCDS32730.1	17																																																																																			NUP85	-	pfam_Nucleoporin_Nup85	ENSG00000125450		0.532	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP85	HGNC	protein_coding	OTTHUMT00000446619.1	115	0.00	0	GAC	NM_024844		73230808	73230810	+1	no_errors	ENST00000245544	ensembl	human	known	69_37n	in_frame_del	71	34.86	38	DEL	1.000:1.000:0.999	-
NYNRIN	57523	genome.wustl.edu	37	14	24878012	24878012	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:24878012G>T	ENST00000382554.3	+	4	1330	c.1012G>T	c.(1012-1014)Gta>Tta	p.V338L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	338					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCAACCTCCAGTATCAGCCCT	0.587																																						dbGAP											0													46.0	50.0	49.0					14																	24878012		2029	4191	6220	-	-	-	SO:0001583	missense	0			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1012G>T	14.37:g.24878012G>T	ENSP00000371994:p.Val338Leu		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.V338L	ENST00000382554.3	37	c.1012	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988263	0.53934	.	.	ENSG00000205978	ENST00000382554	T	0.12361	2.69	5.06	4.15	0.48705	.	0.441674	0.17648	N	0.166792	T	0.11067	0.0270	L	0.27053	0.805	0.09310	N	1	P	0.38767	0.646	B	0.38194	0.267	T	0.13124	-1.0521	10	0.87932	D	0	.	10.4989	0.44794	0.0:0.0:0.8065:0.1935	.	338	Q9P2P1	NYNRI_HUMAN	L	338	ENSP00000371994:V338L	ENSP00000371994:V338L	V	+	1	0	NYNRIN	23947852	0.037000	0.19845	0.481000	0.27354	0.892000	0.51952	1.644000	0.37228	1.309000	0.44985	0.655000	0.94253	GTA	NYNRIN	-	NULL	ENSG00000205978		0.587	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	51	0.00	0	G			24878012	24878012	+1	no_errors	ENST00000382554	ensembl	human	known	69_37n	missense	37	40.32	25	SNP	0.011	T
ODAM	54959	genome.wustl.edu	37	4	71066271	71066271	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:71066271G>A	ENST00000396094.2	+	6	529	c.481G>A	c.(481-483)Gtt>Att	p.V161I		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	161	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCAGCAAACAGTTCCAAGGTC	0.373																																						dbGAP											0													115.0	99.0	105.0					4																	71066271		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.481G>A	4.37:g.71066271G>A	ENSP00000379401:p.Val161Ile		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	NULL	p.V161I	ENST00000396094.2	37	c.481	CCDS3536.2	4	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780977	0.49891	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.47177	0.85;0.85	5.22	2.43	0.29744	.	1.185040	0.06313	N	0.703007	T	0.42426	0.1202	L	0.53249	1.67	0.09310	N	1	B	0.33171	0.4	B	0.30855	0.121	T	0.33007	-0.9885	10	0.34782	T	0.22	0.2439	8.1133	0.30928	0.0:0.3281:0.5024:0.1695	.	161	A1E959	ODAM_HUMAN	I	161;147;114	ENSP00000379401:V161I;ENSP00000426106:V114I	ENSP00000379401:V161I	V	+	1	0	ODAM	71100860	0.001000	0.12720	0.009000	0.14445	0.160000	0.22226	0.695000	0.25527	1.417000	0.47077	0.655000	0.94253	GTT	ODAM	-	NULL	ENSG00000109205		0.373	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODAM	HGNC	protein_coding	OTTHUMT00000251562.1	76	0.00	0	G	NM_017855		71066271	71066271	+1	no_errors	ENST00000396094	ensembl	human	known	69_37n	missense	89	14.42	15	SNP	0.000	A
TENM1	10178	genome.wustl.edu	37	X	123517989	123517989	+	Silent	SNP	G	G	A	rs184919933		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:123517989G>A	ENST00000371130.3	-	29	6834	c.6771C>T	c.(6769-6771)gtC>gtT	p.V2257V	TENM1_ENST00000422452.2_Silent_p.V2264V|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2257					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACTTACTCGCGACACGTCGCC	0.458																																						dbGAP											0													97.0	92.0	94.0					X																	123517989		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6771C>T	X.37:g.123517989G>A			B2RTR5|Q5JZ17	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD	p.V2264	ENST00000371130.3	37	c.6792	CCDS14609.1	X																																																																																			ODZ1	-	NULL	ENSG00000009694		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	HGNC	protein_coding	OTTHUMT00000058985.1	62	0.00	0	G	NM_014253		123517989	123517989	-1	no_errors	ENST00000422452	ensembl	human	known	69_37n	silent	61	18.67	14	SNP	0.699	A
TENM2	57451	genome.wustl.edu	37	5	167645722	167645722	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:167645722T>G	ENST00000518659.1	+	23	4865	c.4826T>G	c.(4825-4827)gTg>gGg	p.V1609G	TENM2_ENST00000520394.1_Missense_Mutation_p.V1370G|TENM2_ENST00000545108.1_Missense_Mutation_p.V1608G|TENM2_ENST00000519204.1_Missense_Mutation_p.V1488G|TENM2_ENST00000403607.2_Missense_Mutation_p.V1433G	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1609					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTGAGCCTGGTGACAGGGGAG	0.458																																						dbGAP											0													106.0	105.0	105.0					5																	167645722		2012	4185	6197	-	-	-	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4826T>G	5.37:g.167645722T>G	ENSP00000429430:p.Val1609Gly		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V1609G	ENST00000518659.1	37	c.4826		5	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157393	0.78114	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;T;D;D;D	0.90261	-2.17;0.17;-2.27;-2.62;-2.64	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.93956	0.8065	M	0.66939	2.045	0.80722	D	1	D;D;D	0.63880	0.987;0.978;0.993	P;P;P	0.61275	0.886;0.772;0.835	D	0.94121	0.7379	10	0.56958	D	0.05	.	16.2303	0.82332	0.0:0.0:0.0:1.0	.	1608;1609;1370	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	G	1609;1608;1488;1370;1433	ENSP00000429430:V1609G;ENSP00000438635:V1608G;ENSP00000428964:V1488G;ENSP00000427874:V1370G;ENSP00000384905:V1433G	ENSP00000384905:V1433G	V	+	2	0	ODZ2	167578300	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.233000	0.73108	0.533000	0.62120	GTG	ODZ2	-	superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl	ENSG00000145934		0.458	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	HGNC	protein_coding	OTTHUMT00000376096.1	59	0.00	0	T	NM_001122679		167645722	167645722	+1	no_errors	ENST00000518659	ensembl	human	known	69_37n	missense	36	29.41	15	SNP	1.000	G
OGDHL	55753	genome.wustl.edu	37	10	50952735	50952735	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:50952735T>C	ENST00000374103.4	-	13	1778	c.1693A>G	c.(1693-1695)Att>Gtt	p.I565V	OGDHL_ENST00000419399.1_Missense_Mutation_p.I508V|OGDHL_ENST00000432695.1_Missense_Mutation_p.I356V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	565					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ATATGCAGAATCTTTTTATCC	0.527																																						dbGAP											0													139.0	133.0	135.0					10																	50952735		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1693A>G	10.37:g.50952735T>C	ENSP00000363216:p.Ile565Val		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.I565V	ENST00000374103.4	37	c.1693	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519196	0.27211	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95656	-3.77;-3.77;-3.77	5.6	5.6	0.85130	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.90473	0.7016	N	0.16478	0.41	0.54753	D	0.999989	B;B;B	0.15473	0.004;0.001;0.013	B;B;B	0.18263	0.012;0.012;0.021	D	0.86549	0.1833	10	0.22706	T	0.39	.	16.0816	0.81007	0.0:0.0:0.0:1.0	.	508;356;565	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	V	565;508;356	ENSP00000363216:I565V;ENSP00000401356:I508V;ENSP00000390240:I356V	ENSP00000363216:I565V	I	-	1	0	OGDHL	50622741	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.351000	0.52232	2.266000	0.75297	0.528000	0.53228	ATT	OGDHL	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000197444		0.527	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	97	0.00	0	T	NM_018245		50952735	50952735	-1	no_errors	ENST00000374103	ensembl	human	known	69_37n	missense	78	20.41	20	SNP	1.000	C
OPTN	10133	genome.wustl.edu	37	10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:13151192delC	ENST00000378748.3	+	4	432	c.70delC	c.(70-72)cccfs	p.P25fs	OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000378752.3_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378764.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378757.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000263036.5_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378747.3_Frame_Shift_Del_p.P25fs	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	25					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGGAAATGGACCCCCCCACCT	0.557																																						dbGAP											0													89.0	89.0	89.0					10																	13151192		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.70delC	10.37:g.13151192delC	ENSP00000368022:p.Pro25fs		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Frame_Shift_Del	DEL	pfam_NEMO_N	p.H26fs	ENST00000378748.3	37	c.70	CCDS7094.1	10																																																																																			OPTN	-	NULL	ENSG00000123240		0.557	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1	45	0.00	0	C	NM_021980		13151192	13151192	+1	no_errors	ENST00000263036	ensembl	human	known	69_37n	frame_shift_del	42	19.23	10	DEL	1.000	-
OIT3	170392	genome.wustl.edu	37	10	74666365	74666365	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:74666365T>C	ENST00000334011.5	+	4	774	c.556T>C	c.(556-558)Tgt>Cgt	p.C186R		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	186	EGF-like; calcium-binding. {ECO:0000255}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TGAAAATGAATGTGAGCAAAA	0.478																																					Colon(7;19 345 13446 17537)	dbGAP											0													186.0	173.0	177.0					10																	74666365		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.556T>C	10.37:g.74666365T>C	ENSP00000333900:p.Cys186Arg		A0AVP3|Q8N1M8	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr,pfscan_Zona_pellucida_Endoglin/CD105	p.C186R	ENST00000334011.5	37	c.556	CCDS7318.1	10	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367479	0.82463	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.99966	-10.09	5.48	5.48	0.80851	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.64402	D	0.000004	D	0.99977	0.9993	H	0.96691	3.865	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97411	1.0002	10	0.87932	D	0	-13.0088	15.6059	0.76672	0.0:0.0:0.0:1.0	.	186	Q8WWZ8	OIT3_HUMAN	R	186	ENSP00000333900:C186R	ENSP00000333900:C186R	C	+	1	0	OIT3	74336371	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.924000	0.75823	2.081000	0.62600	0.533000	0.62120	TGT	OIT3	-	smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000138315		0.478	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIT3	HGNC	protein_coding	OTTHUMT00000048596.1	128	0.00	0	T	NM_152635		74666365	74666365	+1	no_errors	ENST00000334011	ensembl	human	known	69_37n	missense	104	20.00	26	SNP	1.000	C
OR10H1	26539	genome.wustl.edu	37	19	15918774	15918774	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:15918774A>C	ENST00000334920.2	-	1	162	c.74T>G	c.(73-75)cTg>cGg	p.L25R		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GAAGAGCATCAGCTGGAGGTG	0.597																																						dbGAP											0													158.0	144.0	149.0					19																	15918774		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.74T>G	19.37:g.15918774A>C	ENSP00000335596:p.Leu25Arg		Q6IFQ2|Q96R59	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L25R	ENST00000334920.2	37	c.74	CCDS12335.1	19	.	.	.	.	.	.	.	.	.	.	a	12.56	1.974268	0.34848	.	.	ENSG00000186723	ENST00000334920	T	0.00346	8.01	4.26	-7.23	0.01480	.	1.393520	0.05051	N	0.478063	T	0.00271	0.0008	L	0.49571	1.57	0.09310	N	1	P	0.41710	0.76	P	0.47206	0.541	T	0.28650	-1.0037	10	0.22706	T	0.39	.	6.5739	0.22553	0.3519:0.3181:0.33:0.0	.	25	Q9Y4A9	O10H1_HUMAN	R	25	ENSP00000335596:L25R	ENSP00000335596:L25R	L	-	2	0	OR10H1	15779774	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.405000	0.02492	-1.048000	0.03238	-0.304000	0.09214	CTG	OR10H1	-	NULL	ENSG00000186723		0.597	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	HGNC	protein_coding	OTTHUMT00000460364.1	216	0.00	0	A			15918774	15918774	-1	no_errors	ENST00000334920	ensembl	human	known	69_37n	missense	139	19.19	33	SNP	0.000	C
OR10R2	343406	genome.wustl.edu	37	1	158450421	158450421	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:158450421G>T	ENST00000368152.1	+	1	754	c.754G>T	c.(754-756)Gag>Tag	p.E252*	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E252*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TCCCTCAGCTGAGGGCAGACG	0.453																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											175.0	144.0	155.0					1																	158450421		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.754G>T	1.37:g.158450421G>T	ENSP00000357134:p.Glu252*		Q5VWM8|Q6IFS1|Q96R61	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E252*	ENST00000368152.1	37	c.754	CCDS30898.1	1	.	.	.	.	.	.	.	.	.	.	g	15.32	2.799967	0.50208	.	.	ENSG00000198965	ENST00000368152	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	12.0421	0.53458	0.0:0.1757:0.8243:0.0	.	.	.	.	X	252	.	ENSP00000357134:E252X	E	+	1	0	OR10R2	156717045	0.000000	0.05858	0.595000	0.28798	0.489000	0.33432	0.082000	0.14847	2.135000	0.66039	0.655000	0.94253	GAG	OR10R2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000198965		0.453	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10R2	HGNC	protein_coding	OTTHUMT00000051847.2	126	0.79	1	G	NM_001004472		158450421	158450421	+1	no_errors	ENST00000368152	ensembl	human	known	69_37n	nonsense	162	10.99	20	SNP	0.847	T
OR11G2	390439	genome.wustl.edu	37	14	20666270	20666270	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:20666270T>C	ENST00000357366.3	+	1	776	c.776T>C	c.(775-777)gTc>gCc	p.V259A		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TATGCTCTGGTCGTGAGAGCT	0.502																																						dbGAP											0													198.0	195.0	196.0					14																	20666270		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.776T>C	14.37:g.20666270T>C	ENSP00000349930:p.Val259Ala		Q6IF09|Q96R33	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V259A	ENST00000357366.3	37	c.776	CCDS32032.1	14	.	.	.	.	.	.	.	.	.	.	t	13.69	2.312134	0.40895	.	.	ENSG00000196832	ENST00000357366	T	0.00193	8.58	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000562	T	0.00356	0.0011	M	0.83384	2.64	0.09310	N	0.999999	B	0.26512	0.151	B	0.36766	0.232	T	0.16012	-1.0417	10	0.72032	D	0.01	.	12.2065	0.54355	0.0:0.0:0.0:1.0	.	259	Q8NGC1	O11G2_HUMAN	A	259	ENSP00000349930:V259A	ENSP00000349930:V259A	V	+	2	0	OR11G2	19736110	0.996000	0.38824	0.719000	0.30619	0.838000	0.47535	7.318000	0.79029	2.073000	0.62155	0.528000	0.53228	GTC	OR11G2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196832		0.502	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR11G2	HGNC	protein_coding	OTTHUMT00000395722.1	166	0.00	0	T			20666270	20666270	+1	no_errors	ENST00000357366	ensembl	human	known	69_37n	missense	131	28.02	51	SNP	0.347	C
OR1A2	26189	genome.wustl.edu	37	17	3100901	3100901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:3100901delT	ENST00000381951.1	+	1	89	c.89delT	c.(88-90)attfs	p.I30fs		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	30					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCTTTGTGATTTTTTTGTGC	0.403																																						dbGAP											0													193.0	175.0	181.0					17																	3100901		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.89delT	17.37:g.3100901delT	ENSP00000371377:p.Ile30fs		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L32fs	ENST00000381951.1	37	c.89	CCDS11021.1	17																																																																																			OR1A2	-	prints_7TM_GPCR_Rhodpsn	ENSG00000172150		0.403	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A2	HGNC	protein_coding	OTTHUMT00000207293.1	180	0.00	0	T	NM_012352		3100901	3100901	+1	no_errors	ENST00000381951	ensembl	human	known	69_37n	frame_shift_del	177	18.92	42	DEL	0.926	-
OR1D2	4991	genome.wustl.edu	37	17	2995389	2995389	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:2995389C>T	ENST00000331459.1	-	1	901	c.902G>A	c.(901-903)gGa>gAa	p.G301E		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	301					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TAGGAGTCTTCCCAGAGCCCC	0.468																																						dbGAP											0													133.0	128.0	129.0					17																	2995389		2203	4300	6503	-	-	-	SO:0001583	missense	0			U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.902G>A	17.37:g.2995389C>T	ENSP00000327585:p.Gly301Glu		Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G301E	ENST00000331459.1	37	c.902	CCDS11019.1	17	.	.	.	.	.	.	.	.	.	.	c	0.708	-0.788131	0.02884	.	.	ENSG00000184166	ENST00000331459	T	0.37058	1.22	3.21	2.14	0.27477	.	.	.	.	.	T	0.23727	0.0574	L	0.33668	1.02	0.09310	N	1	B	0.26400	0.148	B	0.30029	0.11	T	0.19128	-1.0315	9	0.19147	T	0.46	.	4.7697	0.13150	0.2144:0.6665:0.0:0.1191	.	301	P34982	OR1D2_HUMAN	E	301	ENSP00000327585:G301E	ENSP00000327585:G301E	G	-	2	0	OR1D2	2942139	0.000000	0.05858	0.881000	0.34555	0.909000	0.53808	0.514000	0.22786	1.606000	0.50161	0.543000	0.68304	GGA	OR1D2	-	NULL	ENSG00000184166		0.468	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1D2	HGNC	protein_coding	OTTHUMT00000207207.1	159	0.00	0	C	NM_002548		2995389	2995389	-1	no_errors	ENST00000331459	ensembl	human	known	69_37n	missense	152	21.24	41	SNP	0.021	T
OR1N1	138883	genome.wustl.edu	37	9	125288931	125288931	+	Silent	SNP	G	G	T	rs369526229		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:125288931G>T	ENST00000304880.2	-	1	641	c.642C>A	c.(640-642)acC>acA	p.T214T		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGATGTAGGAGGTGACAATGC	0.532																																						dbGAP											0													88.0	76.0	80.0					9																	125288931		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.642C>A	9.37:g.125288931G>T			A3KFM1|O43870|Q6IF16|Q96R93	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T214	ENST00000304880.2	37	c.642	CCDS6844.1	9																																																																																			OR1N1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000171505		0.532	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1N1	HGNC	protein_coding	OTTHUMT00000053938.1	71	0.00	0	G			125288931	125288931	-1	no_errors	ENST00000304880	ensembl	human	known	69_37n	silent	33	22.73	10	SNP	0.054	T
OR2A14	135941	genome.wustl.edu	37	7	143826923	143826923	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:143826923T>C	ENST00000408899.2	+	1	773	c.718T>C	c.(718-720)Tgc>Cgc	p.C240R		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CTTCTCCACCTGCTCCTCCCA	0.617																																						dbGAP											0													109.0	113.0	111.0					7																	143826923		2057	4213	6270	-	-	-	SO:0001583	missense	0				CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.718T>C	7.37:g.143826923T>C	ENSP00000386137:p.Cys240Arg		Q6IF41|Q8NGT8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.C240R	ENST00000408899.2	37	c.718	CCDS43672.1	7	.	.	.	.	.	.	.	.	.	.	T	16.94	3.259516	0.59321	.	.	ENSG00000221938	ENST00000408899	T	0.00372	7.73	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35235	U	0.003347	T	0.01124	0.0037	H	0.94423	3.535	0.58432	D	0.999998	D	0.54207	0.965	P	0.58013	0.831	T	0.46442	-0.9191	10	0.87932	D	0	-18.4202	11.5062	0.50468	0.0:0.0:0.0:1.0	.	240	Q96R47	O2A14_HUMAN	R	240	ENSP00000386137:C240R	ENSP00000386137:C240R	C	+	1	0	OR2A14	143457856	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.838000	0.69388	1.868000	0.54150	0.459000	0.35465	TGC	OR2A14	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000221938		0.617	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A14	HGNC	protein_coding	OTTHUMT00000349980.1	90	0.00	0	T			143826923	143826923	+1	no_errors	ENST00000408899	ensembl	human	known	69_37n	missense	114	16.79	23	SNP	1.000	C
OR2B3	442184	genome.wustl.edu	37	6	29054990	29054990	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:29054990A>G	ENST00000377173.2	-	1	100	c.36T>C	c.(34-36)ttT>ttC	p.F12F		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CAAGTAGTATAAACTCTTTTG	0.373																																						dbGAP											0													65.0	65.0	65.0					6																	29054990		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.36T>C	6.37:g.29054990A>G			B0UYQ1|Q5ST41|Q96R13	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F12	ENST00000377173.2	37	c.36	CCDS34358.1	6																																																																																			OR2B3	-	NULL	ENSG00000204703		0.373	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B3	HGNC	protein_coding	OTTHUMT00000076469.2	73	0.00	0	A			29054990	29054990	-1	no_errors	ENST00000377173	ensembl	human	known	69_37n	silent	100	13.04	15	SNP	0.946	G
OR2W3	343171	genome.wustl.edu	37	1	248059405	248059405	+	Missense_Mutation	SNP	G	G	A	rs139271211		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:248059405G>A	ENST00000360358.3	+	1	517	c.517G>A	c.(517-519)Gag>Aag	p.E173K	OR2W3_ENST00000537741.1_Missense_Mutation_p.E173K	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGCACCACGAGGTGGACCA	0.657																																						dbGAP											0													106.0	84.0	92.0					1																	248059405		2203	4300	6503	-	-	-	SO:0001583	missense	0			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.517G>A	1.37:g.248059405G>A	ENSP00000353516:p.Glu173Lys		Q6IF06|Q8NG86	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E173K	ENST00000360358.3	37	c.517	CCDS31099.1	1	.	.	.	.	.	.	.	.	.	.	G	4.079	0.012659	0.07912	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00123	8.7;8.7	5.28	-5.48	0.02592	GPCR, rhodopsin-like superfamily (1);	2.256030	0.01301	N	0.010303	T	0.00073	0.0002	N	0.05050	-0.12	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25641	-1.0126	10	0.11485	T	0.65	.	2.7418	0.05255	0.2447:0.3921:0.2562:0.1069	.	173	Q7Z3T1	OR2W3_HUMAN	K	173	ENSP00000445853:E173K;ENSP00000353516:E173K	ENSP00000353516:E173K	E	+	1	0	OR2W3	246126028	0.000000	0.05858	0.000000	0.03702	0.442000	0.32017	-2.805000	0.00758	-0.553000	0.06158	-0.660000	0.03859	GAG	OR2W3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000238243		0.657	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W3	HGNC	protein_coding	OTTHUMT00000096861.1	92	0.00	0	G	NM_001001957		248059405	248059405	+1	no_errors	ENST00000360358	ensembl	human	known	69_37n	missense	65	28.57	26	SNP	0.000	A
OR4B1	119765	genome.wustl.edu	37	11	48238525	48238525	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:48238525delC	ENST00000309562.2	+	1	182	c.164delC	c.(163-165)tctfs	p.S55fs		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGTCTGGATTCTCCCATGTAC	0.483																																						dbGAP											0													199.0	177.0	184.0					11																	48238525		2201	4298	6499	-	-	-	SO:0001589	frameshift_variant	0			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.164delC	11.37:g.48238525delC	ENSP00000311605:p.Ser55fs		Q6IF75|Q96R64	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S55fs	ENST00000309562.2	37	c.164	CCDS31485.1	11																																																																																			OR4B1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000175619		0.483	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	HGNC	protein_coding	OTTHUMT00000390554.1	169	0.00	0	C	NM_001005470		48238525	48238525	+1	no_errors	ENST00000309562	ensembl	human	known	69_37n	frame_shift_del	133	16.87	28	DEL	0.801	-
OR4B1	119765	genome.wustl.edu	37	11	48238527	48238527	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:48238527C>T	ENST00000309562.2	+	1	184	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCTGGATTCTCCCATGTACTT	0.483																																						dbGAP											0													198.0	177.0	184.0					11																	48238527		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.166C>T	11.37:g.48238527C>T	ENSP00000311605:p.Pro56Ser		Q6IF75|Q96R64	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.P56S	ENST00000309562.2	37	c.166	CCDS31485.1	11	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795408	0.50208	.	.	ENSG00000175619	ENST00000309562	T	0.02015	4.5	5.4	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000056	T	0.17195	0.0413	M	0.93978	3.48	0.42989	D	0.994489	D	0.89917	1.0	D	0.91635	0.999	T	0.01853	-1.1260	10	0.87932	D	0	.	11.7842	0.52032	0.0:0.9143:0.0:0.0857	.	56	Q8NGF8	OR4B1_HUMAN	S	56	ENSP00000311605:P56S	ENSP00000311605:P56S	P	+	1	0	OR4B1	48195103	1.000000	0.71417	0.897000	0.35233	0.030000	0.12068	5.914000	0.69964	1.282000	0.44496	0.400000	0.26472	CCC	OR4B1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000175619		0.483	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	HGNC	protein_coding	OTTHUMT00000390554.1	166	0.00	0	C	NM_001005470		48238527	48238527	+1	no_errors	ENST00000309562	ensembl	human	known	69_37n	missense	133	19.39	32	SNP	1.000	T
OR5B12	390191	genome.wustl.edu	37	11	58207497	58207497	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:58207497A>T	ENST00000302572.2	-	1	149	c.128T>A	c.(127-129)aTg>aAg	p.M43K		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAATTCAATCATCCCCAGGTT	0.478																																						dbGAP											0													77.0	86.0	83.0					11																	58207497		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.128T>A	11.37:g.58207497A>T	ENSP00000306657:p.Met43Lys		B2RNL2|Q6IEV5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.M43K	ENST00000302572.2	37	c.128	CCDS31551.1	11	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895913	0.33442	.	.	ENSG00000172362	ENST00000302572	T	0.00446	7.39	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.137975	0.34652	N	0.003796	T	0.00784	0.0026	H	0.94658	3.565	0.32089	N	0.592091	B	0.25169	0.119	B	0.24394	0.053	T	0.00241	-1.1886	10	0.72032	D	0.01	-9.1457	12.4804	0.55839	1.0:0.0:0.0:0.0	.	43	Q96R08	OR5BC_HUMAN	K	43	ENSP00000306657:M43K	ENSP00000306657:M43K	M	-	2	0	OR5B12	57964073	0.762000	0.28451	0.433000	0.26760	0.304000	0.27724	6.014000	0.70784	2.118000	0.64928	0.459000	0.35465	ATG	OR5B12	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172362		0.478	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B12	HGNC	protein_coding	OTTHUMT00000394987.1	51	0.00	0	A	NM_001004733		58207497	58207497	-1	no_errors	ENST00000302572	ensembl	human	known	69_37n	missense	68	13.92	11	SNP	0.689	T
OR6C65	403282	genome.wustl.edu	37	12	55794567	55794567	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:55794567A>G	ENST00000379665.2	+	1	354	c.255A>G	c.(253-255)acA>acG	p.T85T		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ACATTGCTACAGGAGACACAA	0.338																																						dbGAP											0													83.0	86.0	85.0					12																	55794567		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.255A>G	12.37:g.55794567A>G			B2RNH9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T85	ENST00000379665.2	37	c.255	CCDS31821.1	12																																																																																			OR6C65	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205328		0.338	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	HGNC	protein_coding	OTTHUMT00000406674.1	116	0.00	0	A			55794567	55794567	+1	no_errors	ENST00000379665	ensembl	human	known	69_37n	silent	47	26.56	17	SNP	0.009	G
OR6S1	341799	genome.wustl.edu	37	14	21109823	21109823	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:21109823C>A	ENST00000320704.3	-	1	27	c.28G>T	c.(28-30)Gat>Tat	p.D10Y		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TCTGTTGGATCACTACTGTGG	0.458																																						dbGAP											0													108.0	115.0	113.0					14																	21109823		2202	4300	6502	-	-	-	SO:0001583	missense	0			AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.28G>T	14.37:g.21109823C>A	ENSP00000313110:p.Asp10Tyr		Q6IFJ9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.D10Y	ENST00000320704.3	37	c.28	CCDS32038.1	14	.	.	.	.	.	.	.	.	.	.	C	6.089	0.384652	0.11524	.	.	ENSG00000181803	ENST00000320704	T	0.00342	8.03	5.75	1.77	0.24775	.	0.636305	0.13822	N	0.360343	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.26883	-1.0090	10	0.37606	T	0.19	-0.0019	4.118	0.10092	0.1596:0.5682:0.0:0.2722	.	10	Q8NH40	OR6S1_HUMAN	Y	10	ENSP00000313110:D10Y	ENSP00000313110:D10Y	D	-	1	0	OR6S1	20179663	0.000000	0.05858	0.002000	0.10522	0.380000	0.30137	0.368000	0.20399	0.048000	0.15891	0.591000	0.81541	GAT	OR6S1	-	NULL	ENSG00000181803		0.458	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR6S1	HGNC	protein_coding	OTTHUMT00000411227.1	31	0.00	0	C			21109823	21109823	-1	no_errors	ENST00000320704	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.050	A
OR9A4	130075	genome.wustl.edu	37	7	141618962	141618962	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:141618962C>G	ENST00000548136.1	+	1	346	c.287C>G	c.(286-288)gCc>gGc	p.A96G	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TATTTGTCTGCCTGTGTTGTC	0.527																																						dbGAP											0													106.0	107.0	107.0					7																	141618962		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.287C>G	7.37:g.141618962C>G	ENSP00000448789:p.Ala96Gly		B9EGV6|Q6IFI4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A96G	ENST00000548136.1	37	c.287	CCDS43661.1	7	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.893408	0.00059	.	.	ENSG00000258083	ENST00000548136	T	0.01197	5.19	3.8	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	N	0.02379	-0.575	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44817	-0.9303	9	0.11485	T	0.65	-3.1767	10.7486	0.46196	0.0:0.7446:0.2553:0.0	.	96	Q8NGU2	OR9A4_HUMAN	G	96	ENSP00000448789:A96G	ENSP00000386148:A96G	A	+	2	0	OR9A4	141265431	0.000000	0.05858	0.191000	0.23289	0.032000	0.12392	-0.943000	0.03917	0.861000	0.35504	0.655000	0.94253	GCC	OR9A4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000258083		0.527	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9A4	HGNC	protein_coding	OTTHUMT00000350806.3	108	0.00	0	C	NM_001001656		141618962	141618962	+1	no_errors	ENST00000548136	ensembl	human	known	69_37n	missense	63	26.74	23	SNP	0.006	G
OSBPL11	114885	genome.wustl.edu	37	3	125313607	125313607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:125313607G>T	ENST00000296220.5	-	1	327	c.38C>A	c.(37-39)tCg>tAg	p.S13*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	13					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTCGCTCTCCGAGACTTTCAT	0.562																																						dbGAP											0													113.0	95.0	101.0					3																	125313607		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.38C>A	3.37:g.125313607G>T	ENSP00000296220:p.Ser13*		A8K9I7	Nonsense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S13*	ENST00000296220.5	37	c.38	CCDS3033.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.877310	0.98539	.	.	ENSG00000144909	ENST00000296220	.	.	.	4.64	4.64	0.57946	.	2.825440	0.01176	N	0.006961	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6449	13.1873	0.59688	0.0:0.0:1.0:0.0	.	.	.	.	X	13	.	ENSP00000296220:S13X	S	-	2	0	OSBPL11	126796297	0.995000	0.38212	0.971000	0.41717	0.834000	0.47266	3.719000	0.54926	2.558000	0.86282	0.484000	0.47621	TCG	OSBPL11	-	NULL	ENSG00000144909		0.562	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	HGNC	protein_coding	OTTHUMT00000356295.1	103	0.00	0	G	NM_022776		125313607	125313607	-1	no_errors	ENST00000296220	ensembl	human	known	69_37n	nonsense	129	27.53	49	SNP	0.983	T
OTOGL	283310	genome.wustl.edu	37	12	80733015	80733015	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:80733015A>T	ENST00000547103.1	+	42	4964	c.4958A>T	c.(4957-4959)aAc>aTc	p.N1653I	OTOGL_ENST00000458043.2_Missense_Mutation_p.N1665I			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1653	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTCCGATTTAACTTGTCATCC	0.358																																						dbGAP											0													231.0	228.0	229.0					12																	80733015		1883	4094	5977	-	-	-	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4958A>T	12.37:g.80733015A>T	ENSP00000447211:p.Asn1653Ile		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.N1665I	ENST00000547103.1	37	c.4994		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.84|13.84	2.356999|2.356999	0.41801|0.41801	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043|ENST00000298820	T;T|.	0.59502|.	0.26;0.26|.	5.58|5.58	4.42|4.42	0.53409|0.53409	.|.	.|.	.|.	.|.	.|.	T|T	0.47857|0.47857	0.1468|0.1468	L|L	0.43152|0.43152	1.355|1.355	0.32437|0.32437	N|N	0.547268|0.547268	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56335|0.56335	-0.7996|-0.7996	7|5	0.37606|.	T|.	0.19|.	.|.	11.7598|11.7598	0.51896|0.51896	0.9295:0.0:0.0705:0.0|0.9295:0.0:0.0705:0.0	.|.	.|.	.|.	.|.	I|S	1653;1665|108	ENSP00000447211:N1653I;ENSP00000400895:N1665I|.	ENSP00000400895:N1665I|.	N|T	+|+	2|1	0|0	OTOGL|OTOGL	79257146|79257146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.599000|0.599000	0.36880|0.36880	6.191000|6.191000	0.72063|0.72063	2.107000|2.107000	0.64212|0.64212	0.528000|0.528000	0.53228|0.53228	AAC|ACT	OTOGL	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000165899		0.358	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	109	0.00	0	A	NM_173591		80733015	80733015	+1	no_errors	ENST00000458043	ensembl	human	known	69_37n	missense	91	21.55	25	SNP	0.991	T
OTOR	56914	genome.wustl.edu	37	20	16729577	16729577	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:16729577delA	ENST00000246081.2	+	2	225	c.181delA	c.(181-183)aaafs	p.K62fs		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	62	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CATTAACGTTAAAAAAGGGCA	0.353																																						dbGAP											0													75.0	78.0	77.0					20																	16729577		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.181delA	20.37:g.16729577delA	ENSP00000246081:p.Lys62fs		D3DW22|Q3MIU6	Frame_Shift_Del	DEL	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.Q64fs	ENST00000246081.2	37	c.181	CCDS13124.1	20																																																																																			OTOR	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	ENSG00000125879		0.353	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOR	HGNC	protein_coding	OTTHUMT00000078108.2	142	0.00	0	A			16729577	16729577	+1	no_errors	ENST00000246081	ensembl	human	known	69_37n	frame_shift_del	112	22.76	33	DEL	0.997	-
OTUD7A	161725	genome.wustl.edu	37	15	31779758	31779758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:31779758delG	ENST00000307050.4	-	9	1254	c.1162delC	c.(1162-1164)ctgfs	p.L388fs	OTUD7A_ENST00000382902.1_Frame_Shift_Del_p.L395fs	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	388	Catalytic. {ECO:0000250}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GAATCCGTCAGGGGGATCACG	0.607																																						dbGAP											0													63.0	56.0	58.0					15																	31779758		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1162delC	15.37:g.31779758delG	ENSP00000305926:p.Leu388fs		Q8IWK5	Frame_Shift_Del	DEL	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.L395fs	ENST00000307050.4	37	c.1183	CCDS10026.1	15																																																																																			OTUD7A	-	NULL	ENSG00000169918		0.607	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	HGNC	protein_coding	OTTHUMT00000251393.2	61	0.00	0	G	NM_130901		31779758	31779758	-1	no_errors	ENST00000382902	ensembl	human	known	69_37n	frame_shift_del	44	22.41	13	DEL	0.999	-
OXA1L	5018	genome.wustl.edu	37	14	23237317	23237317	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:23237317C>T	ENST00000604262.1	+	3	399	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	OXA1L_ENST00000285848.5_Nonsense_Mutation_p.Q186*|CTD-2555K7.2_ENST00000554857.1_RNA|OXA1L_ENST00000358043.5_Nonsense_Mutation_p.Q110*|CTD-2555K7.2_ENST00000553792.1_RNA|CTD-2555K7.2_ENST00000554730.1_RNA|OXA1L_ENST00000412791.1_Nonsense_Mutation_p.Q126*			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	126					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		GGGACTGATCCAGAATTTACT	0.522																																						dbGAP											0													56.0	54.0	55.0					14																	23237317		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.376C>T	14.37:g.23237317C>T	ENSP00000474623:p.Gln126*		B4DPA2	Nonsense_Mutation	SNP	pfam_Membrane_insertion_OxaA/YidC,tigrfam_Membrane_insertion_OxaA/YidC	p.Q186*	ENST00000604262.1	37	c.556		14	.	.	.	.	.	.	.	.	.	.	C	34	5.334715	0.95758	.	.	ENSG00000155463	ENST00000285848;ENST00000412791;ENST00000358043	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.9323	18.7528	0.91821	0.0:1.0:0.0:0.0	.	.	.	.	X	186;126;110	.	ENSP00000285848:Q186X	Q	+	1	0	OXA1L	22307157	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	6.420000	0.73349	2.726000	0.93360	0.655000	0.94253	CAG	OXA1L	-	NULL	ENSG00000155463		0.522	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	OXA1L	HGNC	protein_coding	OTTHUMT00000468876.1	50	0.00	0	C	NM_005015		23237317	23237317	+1	no_errors	ENST00000285848	ensembl	human	known	69_37n	nonsense	42	19.23	10	SNP	1.000	T
P2RX4	5025	genome.wustl.edu	37	12	121654940	121654940	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:121654940G>T	ENST00000337233.4	+	2	446	c.138G>T	c.(136-138)tgG>tgT	p.W46C	P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000541532.1_Missense_Mutation_p.W46C|P2RX4_ENST00000543171.1_Intron|P2RX4_ENST00000359949.7_Missense_Mutation_p.W62C	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	46					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTTATAGGTGGGTGTTTGTGT	0.478																																						dbGAP											0													298.0	218.0	245.0					12																	121654940		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.138G>T	12.37:g.121654940G>T	ENSP00000336607:p.Trp46Cys		E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor	p.W46C	ENST00000337233.4	37	c.138	CCDS9214.1	12	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391952	0.62066	.	.	ENSG00000135124	ENST00000337233;ENST00000359949;ENST00000541532;ENST00000542067	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	5.99	5.99	0.97316	.	0.107665	0.64402	D	0.000002	T	0.39682	0.1087	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.987;0.992;0.996	T	0.36817	-0.9732	10	0.87932	D	0	-15.3639	19.5253	0.95203	0.0:0.0:1.0:0.0	.	46;62;46	F6RU17;E7EPF7;Q99571	.;.;P2RX4_HUMAN	C	46;62;46;46	ENSP00000336607:W46C;ENSP00000353032:W62C;ENSP00000443115:W46C;ENSP00000438329:W46C	ENSP00000336607:W46C	W	+	3	0	P2RX4	120139323	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.781000	0.47750	2.857000	0.98124	0.650000	0.86243	TGG	P2RX4	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000135124		0.478	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX4	HGNC	protein_coding	OTTHUMT00000402545.1	305	0.33	1	G	NM_175567		121654940	121654940	+1	no_errors	ENST00000337233	ensembl	human	known	69_37n	missense	250	18.03	55	SNP	1.000	T
P2RY10	27334	genome.wustl.edu	37	X	78216912	78216912	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:78216912C>A	ENST00000171757.2	+	4	1175	c.895C>A	c.(895-897)Ctt>Att	p.L299I	P2RY10_ENST00000544091.1_Missense_Mutation_p.L299I	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TCTCTGCTGCCTTTTGGATCC	0.483																																						dbGAP											0													207.0	191.0	196.0					X																	78216912		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.895C>A	X.37:g.78216912C>A	ENSP00000171757:p.Leu299Ile		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.L299I	ENST00000171757.2	37	c.895	CCDS14442.1	X	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677637	0.47886	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.37584	1.19;1.19	4.99	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	1.017780	0.07859	N	0.965928	T	0.31482	0.0798	L	0.29908	0.895	0.33346	D	0.570414	B	0.30146	0.27	B	0.38755	0.281	T	0.50004	-0.8878	10	0.72032	D	0.01	.	4.1961	0.10443	0.0:0.698:0.0:0.302	.	299	O00398	P2Y10_HUMAN	I	299	ENSP00000443138:L299I;ENSP00000171757:L299I	ENSP00000171757:L299I	L	+	1	0	P2RY10	78103568	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.796000	0.55507	2.311000	0.77944	0.597000	0.82753	CTT	P2RY10	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000078589		0.483	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY10	HGNC	protein_coding	OTTHUMT00000057323.1	176	0.00	0	C			78216912	78216912	+1	no_errors	ENST00000171757	ensembl	human	known	69_37n	missense	125	35.90	70	SNP	1.000	A
PACS1	55690	genome.wustl.edu	37	11	66001353	66001353	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:66001353C>A	ENST00000320580.4	+	16	1969	c.1936C>A	c.(1936-1938)Ctg>Atg	p.L646M	PACS1_ENST00000529757.1_Missense_Mutation_p.L182M	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	646					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGTCAAGTCCCTGGCCAACAA	0.602																																						dbGAP											0													96.0	74.0	82.0					11																	66001353		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1936C>A	11.37:g.66001353C>A	ENSP00000316454:p.Leu646Met		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.L646M	ENST00000320580.4	37	c.1936	CCDS8129.1	11	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282685	0.59867	.	.	ENSG00000175115	ENST00000320580;ENST00000529757;ENST00000528935	T;T;T	0.58652	0.32;0.32;0.32	4.9	-0.443	0.12249	.	0.000000	0.64402	D	0.000001	T	0.67439	0.2893	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.64554	-0.6380	10	0.45353	T	0.12	-17.9235	10.0569	0.42250	0.0:0.5818:0.0:0.4182	.	646	Q6VY07	PACS1_HUMAN	M	646;182;27	ENSP00000316454:L646M;ENSP00000432858:L182M;ENSP00000437052:L27M	ENSP00000316454:L646M	L	+	1	2	PACS1	65757929	0.999000	0.42202	0.584000	0.28653	0.993000	0.82548	1.654000	0.37334	0.032000	0.15435	0.655000	0.94253	CTG	PACS1	-	pfam_Phosphofurin_acidic_CS-1	ENSG00000175115		0.602	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACS1	HGNC	protein_coding	OTTHUMT00000391690.2	34	0.00	0	C	NM_018026		66001353	66001353	+1	no_errors	ENST00000320580	ensembl	human	known	69_37n	missense	83	20.19	21	SNP	0.928	A
PACS2	23241	genome.wustl.edu	37	14	105834431	105834431	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:105834431T>C	ENST00000325438.8	+	6	1111	c.607T>C	c.(607-609)Tat>Cat	p.Y203H	PACS2_ENST00000547217.1_Missense_Mutation_p.Y173H|PACS2_ENST00000458164.2_Missense_Mutation_p.Y203H|PACS2_ENST00000447393.1_Missense_Mutation_p.Y203H|PACS2_ENST00000430725.2_Missense_Mutation_p.Y136H			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	203					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CGAGGAGGAGTATGAGAGCTT	0.652																																						dbGAP											0													49.0	51.0	51.0					14																	105834431		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.607T>C	14.37:g.105834431T>C	ENSP00000321834:p.Tyr203His		A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.Y203H	ENST00000325438.8	37	c.607	CCDS32168.1	14	.	.	.	.	.	.	.	.	.	.	T	16.95	3.263114	0.59431	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	4.14	1.5	0.22942	.	0.138647	0.49916	D	0.000124	T	0.32615	0.0835	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.76494	0.988;0.993;0.997;0.999	P;D;P;D	0.80764	0.862;0.935;0.825;0.994	T	0.00958	-1.1500	10	0.54805	T	0.06	-2.0762	9.4629	0.38796	0.0:0.0:0.3447:0.6553	.	203;203;203;212	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	H	136;203;203;203;173	ENSP00000393524:Y136H;ENSP00000321834:Y203H;ENSP00000399732:Y203H;ENSP00000393559:Y203H;ENSP00000449525:Y173H	ENSP00000321834:Y203H	Y	+	1	0	PACS2	104905476	1.000000	0.71417	0.836000	0.33094	0.903000	0.53119	1.104000	0.31074	0.003000	0.14656	0.402000	0.26972	TAT	PACS2	-	NULL	ENSG00000179364		0.652	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	HGNC	protein_coding	OTTHUMT00000409209.1	38	0.00	0	T	XM_377355		105834431	105834431	+1	no_errors	ENST00000458164	ensembl	human	known	69_37n	missense	39	17.02	8	SNP	1.000	C
PAK7	57144	genome.wustl.edu	37	20	9523310	9523311	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:9523310_9523311insG	ENST00000378429.3	-	10	2472_2473	c.1926_1927insC	c.(1924-1929)ccctacfs	p.Y643fs	PAK7_ENST00000353224.5_Frame_Shift_Ins_p.Y643fs|PAK7_ENST00000378423.1_Frame_Shift_Ins_p.Y643fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCATTGAAGTAGGGGGGCTCGC	0.53																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1927dupC	20.37:g.9523316_9523316dupG	ENSP00000367686:p.Tyr643fs		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.Y642fs	ENST00000378429.3	37	c.1927_1926	CCDS13107.1	20																																																																																			PAK7	-	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	ENSG00000101349		0.530	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	71	0.00	0	-			9523310	9523311	-1	no_errors	ENST00000353224	ensembl	human	known	69_37n	frame_shift_ins	74	25.25	25	INS	1.000:0.882	G
PANX2	56666	genome.wustl.edu	37	22	50615379	50615379	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:50615379T>C	ENST00000395842.2	+	2	238	c.238T>C	c.(238-240)Tac>Cac	p.Y80H	PANX2_ENST00000159647.5_Missense_Mutation_p.Y80H	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	80					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GGAACCCATTTACTGTTACAC	0.701																																						dbGAP											0													18.0	20.0	19.0					22																	50615379		2192	4295	6487	-	-	-	SO:0001583	missense	0				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.238T>C	22.37:g.50615379T>C	ENSP00000379183:p.Tyr80His		B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	pfam_Innexin,pfscan_Innexin	p.Y80H	ENST00000395842.2	37	c.238	CCDS14085.2	22	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476548	0.63737	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.27890	1.64;1.64	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000002	T	0.43787	0.1263	L	0.36672	1.1	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.19910	-1.0291	10	0.30078	T	0.28	-10.3186	14.1629	0.65457	0.0:0.0:0.0:1.0	.	80;80	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	H	80	ENSP00000159647:Y80H;ENSP00000379183:Y80H	ENSP00000159647:Y80H	Y	+	1	0	PANX2	48957506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.036000	0.70948	1.829000	0.53265	0.459000	0.35465	TAC	PANX2	-	pfam_Innexin,pfscan_Innexin	ENSG00000073150		0.701	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX2	HGNC	protein_coding	OTTHUMT00000075010.3	35	0.00	0	T	NM_052839		50615379	50615379	+1	no_errors	ENST00000395842	ensembl	human	known	69_37n	missense	29	11.76	4	SNP	1.000	C
PAQR6	79957	genome.wustl.edu	37	1	156214983	156214983	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:156214983C>A	ENST00000292291.5	-	6	717	c.559G>T	c.(559-561)Gga>Tga	p.G187*	PAQR6_ENST00000335852.1_Nonsense_Mutation_p.G81*|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_Nonsense_Mutation_p.G163*|PAQR6_ENST00000540423.1_Nonsense_Mutation_p.G184*|PAQR6_ENST00000356983.2_Nonsense_Mutation_p.G81*	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	187						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GCGAAGGCTCCTGTGCGGAGG	0.607																																					GBM(16;219 398 12385 32425 38531)	dbGAP											0													71.0	77.0	75.0					1																	156214983		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.559G>T	1.37:g.156214983C>A	ENSP00000292291:p.Gly187*		B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Nonsense_Mutation	SNP	pfam_HlyIII-related	p.G81*	ENST00000292291.5	37	c.241	CCDS1136.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802772	0.90623	.	.	ENSG00000160781	ENST00000292291;ENST00000360733;ENST00000335852;ENST00000356983;ENST00000340183;ENST00000368270;ENST00000540423	.	.	.	4.48	4.48	0.54585	.	0.622148	0.16268	N	0.221909	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-34.2676	13.9976	0.64411	0.0:1.0:0.0:0.0	.	.	.	.	X	187;81;81;81;206;163;184	.	ENSP00000292291:G187X	G	-	1	0	PAQR6	154481607	0.000000	0.05858	0.032000	0.17829	0.928000	0.56348	-0.115000	0.10741	2.326000	0.78906	0.462000	0.41574	GGA	PAQR6	-	pfam_HlyIII-related	ENSG00000160781		0.607	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAQR6	HGNC	protein_coding	OTTHUMT00000046297.2	51	0.00	0	C	NM_024897		156214983	156214983	-1	no_errors	ENST00000335852	ensembl	human	known	69_37n	nonsense	55	17.91	12	SNP	0.014	A
PARP15	165631	genome.wustl.edu	37	3	122296641	122296641	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:122296641C>T	ENST00000464300.2	+	1	193	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	PARP15_ENST00000483793.1_Silent_p.L43L	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GGGGAGCGTGCTGCCGGCCGG	0.697																																						dbGAP											0													27.0	29.0	29.0					3																	122296641		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.127C>T	3.37:g.122296641C>T			J3KR47|Q8N1K3	Silent	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.L43	ENST00000464300.2	37	c.127	CCDS46893.1	3																																																																																			PARP15	-	NULL	ENSG00000173200		0.697	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP15	HGNC	protein_coding	OTTHUMT00000355964.2	19	0.00	0	C	NM_152615		122296641	122296641	+1	no_errors	ENST00000464300	ensembl	human	known	69_37n	silent	30	23.08	9	SNP	0.004	T
PAX5	5079	genome.wustl.edu	37	9	36882083	36882083	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:36882083C>T	ENST00000358127.4	-	8	1004	c.930G>A	c.(928-930)acG>acA	p.T310T	PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000414447.1_Silent_p.T267T|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000377853.2_Silent_p.T310T|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520281.1_Silent_p.T267T|PAX5_ENST00000522003.1_Silent_p.T202T|PAX5_ENST00000523241.1_Intron	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	310					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CGGGGAGGGTCGTGCTCGCCA	0.632			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	dbGAP		Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	22	Unknown(22)	haematopoietic_and_lymphoid_tissue(22)											60.0	55.0	57.0					9																	36882083		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.930G>A	9.37:g.36882083C>T			A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.R286Q	ENST00000358127.4	37	c.857	CCDS6607.1	9																																																																																			PAX5	-	NULL	ENSG00000196092		0.632	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX5	HGNC	protein_coding	OTTHUMT00000052433.1	32	0.00	0	C			36882083	36882083	-1	no_errors	ENST00000523493	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	0.995	T
PCDH11X	27328	genome.wustl.edu	37	X	91134145	91134145	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:91134145A>T	ENST00000373094.1	+	2	3751	c.2906A>T	c.(2905-2907)gAt>gTt	p.D969V	PCDH11X_ENST00000373097.1_Missense_Mutation_p.D969V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D969V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D969V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D969V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D969V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D969V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D969V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D969V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	969					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGCCTCTCGATAACACCTTT	0.512																																					NSCLC(38;925 1092 2571 38200 45895)	dbGAP											0													266.0	210.0	229.0					X																	91134145		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2906A>T	X.37:g.91134145A>T	ENSP00000362186:p.Asp969Val		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D969V	ENST00000373094.1	37	c.2906	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	A	9.284	1.049004	0.19827	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.35	2.89	0.33648	Protocadherin (1);	0.104496	0.64402	N	0.000006	T	0.52581	0.1743	M	0.70275	2.135	0.58432	D	0.999999	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	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.45920	-0.9228	10	0.52906	T	0.07	.	5.9677	0.19334	0.7714:0.0:0.081:0.1476	.	969;969;969;969;969;969;969;969	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	969	ENSP00000378746:D969V;ENSP00000362186:D969V;ENSP00000362189:D969V;ENSP00000355040:D969V;ENSP00000362180:D969V;ENSP00000423762:D969V;ENSP00000355105:D969V;ENSP00000384758:D969V;ENSP00000298274:D969V	ENSP00000298274:D969V	D	+	2	0	PCDH11X	91020801	1.000000	0.71417	0.984000	0.44739	0.228000	0.25075	6.849000	0.75414	0.183000	0.20059	-0.314000	0.08810	GAT	PCDH11X	-	pfam_Protocadherin	ENSG00000102290		0.512	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	228	0.00	0	A	NM_032969		91134145	91134145	+1	no_errors	ENST00000373094	ensembl	human	known	69_37n	missense	146	29.13	60	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	55566505	55566505	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:55566505T>C	ENST00000373965.2	-	36	5283	c.4889A>G	c.(4888-4890)aAg>aGg	p.K1630R	PCDH15_ENST00000414778.1_Missense_Mutation_p.K1627R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTTAGTGGCTTCACCGCTGT	0.448										HNSCC(58;0.16)																												dbGAP											0													336.0	290.0	304.0					10																	55566505		1568	3582	5150	-	-	-	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4889A>G	10.37:g.55566505T>C	ENSP00000363076:p.Lys1630Arg		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K1627R	ENST00000373965.2	37	c.4880		10	.	.	.	.	.	.	.	.	.	.	T	6.318	0.426779	0.11987	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.62105	0.05;0.09	6.02	3.68	0.42216	.	.	.	.	.	T	0.57417	0.2052	L	0.59436	1.845	0.20307	N	0.999913	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.53344	-0.8452	9	0.87932	D	0	.	9.2649	0.37634	0.0:0.2061:0.0:0.7939	.	1621;1627	C6ZEF7;C9J4F3	.;.	R	1630;1627;1623	ENSP00000363076:K1630R;ENSP00000410304:K1627R	ENSP00000363076:K1630R	K	-	2	0	PCDH15	55236511	0.731000	0.28111	0.006000	0.13384	0.010000	0.07245	1.586000	0.36611	0.519000	0.28406	0.533000	0.62120	AAG	PCDH15	-	NULL	ENSG00000150275		0.448	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000291336.1	196	0.00	0	T	NM_033056		55566505	55566505	-1	no_errors	ENST00000414778	ensembl	human	known	69_37n	missense	132	43.83	103	SNP	0.020	C
PCDHA4	56144	genome.wustl.edu	37	5	140187923	140187923	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:140187923T>C	ENST00000530339.1	+	1	1151	c.1151T>C	c.(1150-1152)cTg>cCg	p.L384P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.L384P|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.L384P|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	384	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAATGGGCTGGTCACCTGC	0.542																																						dbGAP											0													129.0	119.0	122.0					5																	140187923		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1151T>C	5.37:g.140187923T>C	ENSP00000435300:p.Leu384Pro		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L384P	ENST00000530339.1	37	c.1151	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	t	1.866	-0.461550	0.04508	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52295	0.67;0.67;0.67	4.5	0.0593	0.14331	Cadherin (4);Cadherin-like (1);	0.410761	0.17672	U	0.165942	T	0.41236	0.1150	M	0.77820	2.39	0.09310	N	0.999999	B;B;B	0.16603	0.0;0.002;0.018	B;B;B	0.22601	0.0;0.016;0.04	T	0.47341	-0.9125	10	0.66056	D	0.02	.	0.7663	0.01016	0.4455:0.1361:0.1448:0.2737	.	384;384;384	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	P	384	ENSP00000423470:L384P;ENSP00000349344:L384P;ENSP00000435300:L384P	ENSP00000349344:L384P	L	+	2	0	PCDHA4	140168107	0.000000	0.05858	0.216000	0.23742	0.081000	0.17604	0.303000	0.19210	0.197000	0.20387	-0.445000	0.05633	CTG	PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204967		0.542	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	92	0.00	0	T	NM_018907		140187923	140187923	+1	no_errors	ENST00000530339	ensembl	human	known	69_37n	missense	64	24.71	21	SNP	0.034	C
PCDHA8	56140	genome.wustl.edu	37	5	140222530	140222530	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:140222530G>A	ENST00000531613.1	+	1	1624	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V542M|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACGCGGGCGTGCCGCCTCT	0.682																																						dbGAP											0													49.0	59.0	56.0					5																	140222530		2194	4264	6458	-	-	-	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1624G>A	5.37:g.140222530G>A	ENSP00000434655:p.Val542Met		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V542M	ENST00000531613.1	37	c.1624	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	G	7.627	0.677971	0.14841	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.52057	0.68;0.68	3.72	1.5	0.22942	Cadherin (4);Cadherin-like (1);	0.820395	0.09389	U	0.808751	T	0.40546	0.1121	L	0.43598	1.365	0.09310	N	1	P;B	0.44260	0.83;0.229	B;B	0.42282	0.382;0.148	T	0.22417	-1.0217	10	0.44086	T	0.13	.	8.0811	0.30746	0.0:0.1986:0.5595:0.2419	.	542;542	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	M	542	ENSP00000434655:V542M;ENSP00000367363:V542M	ENSP00000367363:V542M	V	+	1	0	PCDHA8	140202714	0.000000	0.05858	0.997000	0.53966	0.196000	0.23810	-1.178000	0.03093	0.614000	0.30107	0.306000	0.20318	GTG	PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204962		0.682	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	27	0.00	0	G	NM_018911		140222530	140222530	+1	no_errors	ENST00000531613	ensembl	human	known	69_37n	missense	23	30.30	10	SNP	0.024	A
PCDHB1	29930	genome.wustl.edu	37	5	140432384	140432384	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:140432384C>T	ENST00000306549.3	+	1	1406	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTAATATCCGACGTTAATG	0.448																																						dbGAP											0													93.0	92.0	92.0					5																	140432384		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1329C>T	5.37:g.140432384C>T			Q2M257	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S443	ENST00000306549.3	37	c.1329	CCDS4243.1	5																																																																																			PCDHB1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000171815		0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	HGNC	protein_coding	OTTHUMT00000251822.2	53	0.00	0	C	NM_013340		140432384	140432384	+1	no_errors	ENST00000306549	ensembl	human	known	69_37n	silent	43	18.87	10	SNP	0.725	T
PCDHB8	56128	genome.wustl.edu	37	5	140559922	140559922	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:140559922A>G	ENST00000239444.2	+	1	2552	c.2307A>G	c.(2305-2307)aaA>aaG	p.K769K	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	769					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCCTGAAACCAGTATTAC	0.478																																						dbGAP											0													96.0	98.0	97.0					5																	140559922		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2307A>G	5.37:g.140559922A>G			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K769	ENST00000239444.2	37	c.2307	CCDS4250.1	5																																																																																			PCDHB8	-	NULL	ENSG00000120322		0.478	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	73	0.00	0	A	NM_019120		140559922	140559922	+1	no_errors	ENST00000239444	ensembl	human	known	69_37n	silent	70	19.32	17	SNP	0.887	G
PCDHB10	56126	genome.wustl.edu	37	5	140572988	140572988	+	Missense_Mutation	SNP	T	T	C	rs201620449		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:140572988T>C	ENST00000239446.4	+	1	1047	c.863T>C	c.(862-864)aTt>aCt	p.I288T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	288	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGAAAATATTCGAACAACC	0.363																																						dbGAP											0													71.0	77.0	75.0					5																	140572988		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.863T>C	5.37:g.140572988T>C	ENSP00000239446:p.Ile288Thr		Q96T99	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I288T	ENST00000239446.4	37	c.863	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	T	6.118	0.389943	0.11581	.	.	ENSG00000120324	ENST00000239446	T	0.02682	4.2	3.41	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.05044	0.0135	L	0.49778	1.585	0.09310	N	1	B	0.33919	0.432	B	0.40940	0.344	T	0.30504	-0.9976	9	0.52906	T	0.07	.	8.102	0.30863	0.0:0.103:0.0:0.897	.	288	Q9UN67	PCDBA_HUMAN	T	288	ENSP00000239446:I288T	ENSP00000239446:I288T	I	+	2	0	PCDHB10	140553172	0.000000	0.05858	0.379000	0.26080	0.638000	0.38207	0.248000	0.18198	1.572000	0.49736	0.454000	0.30748	ATT	PCDHB10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120324		0.363	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	70	0.00	0	T	NM_018930		140572988	140572988	+1	no_errors	ENST00000239446	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	0.005	C
PCDHGB1	56104	genome.wustl.edu	37	5	140731960	140731960	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:140731960G>A	ENST00000523390.1	+	1	2133	c.2133G>A	c.(2131-2133)ctG>ctA	p.L711L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	711					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGCGCCTGCGACGTTCCT	0.607																																						dbGAP											0													109.0	117.0	114.0					5																	140731960		2060	4185	6245	-	-	-	SO:0001819	synonymous_variant	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2133G>A	5.37:g.140731960G>A			Q3SY75|Q9Y5C8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L711	ENST00000523390.1	37	c.2133	CCDS54923.1	5																																																																																			PCDHGB1	-	NULL	ENSG00000254221		0.607	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	58	0.00	0	G	NM_018922		140731960	140731960	+1	no_errors	ENST00000523390	ensembl	human	known	69_37n	silent	52	17.19	11	SNP	0.000	A
PCDHGA5	56110	genome.wustl.edu	37	5	140744575	140744575	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:140744575G>A	ENST00000518069.1	+	1	678	c.678G>A	c.(676-678)acG>acA	p.T226T	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	226	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCACCACGCACATCCGTG	0.582																																						dbGAP											0													75.0	75.0	75.0					5																	140744575		2072	4218	6290	-	-	-	SO:0001819	synonymous_variant	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.678G>A	5.37:g.140744575G>A			Q2M3F5|Q9Y5D2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T226	ENST00000518069.1	37	c.678	CCDS54925.1	5																																																																																			PCDHGA5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253485		0.582	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	41	0.00	0	G	NM_018918		140744575	140744575	+1	no_errors	ENST00000518069	ensembl	human	known	69_37n	silent	28	18.92	7	SNP	0.000	A
PCDHGA12	26025	genome.wustl.edu	37	5	140812003	140812003	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:140812003G>A	ENST00000252085.3	+	1	1819	c.1677G>A	c.(1675-1677)gcG>gcA	p.A559A	PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAATGCGCCCGAGATCC	0.657																																						dbGAP											0													138.0	152.0	147.0					5																	140812003		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1677G>A	5.37:g.140812003G>A			O15100|Q6UW70|Q9Y5D7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A559	ENST00000252085.3	37	c.1677	CCDS4260.1	5																																																																																			PCDHGA12	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253159		0.657	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	69	0.00	0	G	NM_003735		140812003	140812003	+1	no_errors	ENST00000252085	ensembl	human	known	69_37n	silent	76	23.76	24	SNP	0.015	A
PCF11	51585	genome.wustl.edu	37	11	82895807	82895807	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:82895807A>T	ENST00000298281.4	+	16	4991	c.4539A>T	c.(4537-4539)gaA>gaT	p.E1513D	RP11-727A23.11_ENST00000602322.1_lincRNA|RP11-727A23.4_ENST00000528133.1_RNA	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1513					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCAAAAACGAATTGCAGGAAC	0.393																																						dbGAP											0													105.0	99.0	101.0					11																	82895807		1882	4123	6005	-	-	-	SO:0001583	missense	0			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.4539A>T	11.37:g.82895807A>T	ENSP00000298281:p.Glu1513Asp		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.E1513D	ENST00000298281.4	37	c.4539	CCDS44689.1	11	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300985	0.60195	.	.	ENSG00000165494	ENST00000298281	T	0.28895	1.59	6.16	3.83	0.44106	.	0.000000	0.64402	D	0.000012	T	0.49355	0.1552	M	0.69823	2.125	0.35774	D	0.821156	D	0.58970	0.984	D	0.68192	0.956	T	0.57283	-0.7838	9	.	.	.	-20.7631	8.9073	0.35532	0.7997:0.0:0.2003:0.0	.	1513	O94913	PCF11_HUMAN	D	1513	ENSP00000298281:E1513D	.	E	+	3	2	PCF11	82573455	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.411000	0.44600	0.547000	0.28938	0.528000	0.53228	GAA	PCF11	-	NULL	ENSG00000165494		0.393	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	167	0.00	0	A	NM_015885		82895807	82895807	+1	no_errors	ENST00000298281	ensembl	human	known	69_37n	missense	155	15.22	28	SNP	1.000	T
PCLO	27445	genome.wustl.edu	37	7	82582944	82582944	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:82582944delT	ENST00000333891.9	-	5	7662	c.7325delA	c.(7324-7326)aagfs	p.K2442fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.K2442fs|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACTGTTAACTTTTTTTTAGG	0.498																																						dbGAP											0													55.0	53.0	53.0					7																	82582944		1863	4093	5956	-	-	-	SO:0001589	frameshift_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7325delA	7.37:g.82582944delT	ENSP00000334319:p.Lys2442fs			Frame_Shift_Del	DEL	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.K2442fs	ENST00000333891.9	37	c.7325	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.498	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	95	0.00	0	T	NM_014510		82582944	82582944	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	frame_shift_del	106	21.48	29	DEL	0.984	-
PDCD6IP	10015	genome.wustl.edu	37	3	33863451	33863451	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:33863451T>C	ENST00000307296.3	+	4	716	c.339T>C	c.(337-339)ctT>ctC	p.L113L	PDCD6IP_ENST00000498147.1_3'UTR|PDCD6IP_ENST00000457054.2_Silent_p.L113L			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	113	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTACAGCTCTTGCAAGCTTAG	0.363																																						dbGAP											0													35.0	36.0	36.0					3																	33863451		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.339T>C	3.37:g.33863451T>C			C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Silent	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.L113	ENST00000307296.3	37	c.339	CCDS2660.1	3																																																																																			PDCD6IP	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000170248		0.363	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	61	0.00	0	T			33863451	33863451	+1	no_errors	ENST00000457054	ensembl	human	known	69_37n	silent	54	16.92	11	SNP	1.000	C
PDE1A	5136	genome.wustl.edu	37	2	183129052	183129052	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:183129052T>C	ENST00000410103.1	-	3	274	c.191A>G	c.(190-192)gAa>gGa	p.E64G	PDE1A_ENST00000409365.1_Missense_Mutation_p.E48G|PDE1A_ENST00000456212.1_Missense_Mutation_p.E64G|PDE1A_ENST00000435564.1_Missense_Mutation_p.E64G|PDE1A_ENST00000331935.6_Missense_Mutation_p.E64G|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.E48G|PDE1A_ENST00000358139.2_Missense_Mutation_p.E64G	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	64					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ATAAACTGCTTCCAGCACAGA	0.378																																						dbGAP											0													117.0	110.0	112.0					2																	183129052		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.191A>G	2.37:g.183129052T>C	ENSP00000387037:p.Glu64Gly		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.E64G	ENST00000410103.1	37	c.191	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	T	28.4	4.914885	0.92178	.	.	ENSG00000115252	ENST00000435564;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T	0.75477	-0.94;-0.9;-0.94;-0.9;-0.92;-0.92;-0.92	5.73	5.73	0.89815	.	0.098893	0.64402	D	0.000001	D	0.85013	0.5600	M	0.72353	2.195	0.58432	D	0.999999	D;D;D	0.71674	0.993;0.998;0.996	D;D;D	0.72075	0.928;0.976;0.967	D	0.86640	0.1891	10	0.87932	D	0	.	15.1461	0.72653	0.0:0.0:0.0:1.0	.	64;48;64	P54750;P54750-2;P54750-4	PDE1A_HUMAN;.;.	G	64;48;64;48;64;64;64	ENSP00000410309:E64G;ENSP00000386767:E48G;ENSP00000331574:E64G;ENSP00000309269:E48G;ENSP00000387037:E64G;ENSP00000350858:E64G;ENSP00000408874:E64G	ENSP00000331574:E64G	E	-	2	0	PDE1A	182837297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.372000	0.79612	2.308000	0.77769	0.533000	0.62120	GAA	PDE1A	-	NULL	ENSG00000115252		0.378	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	94	0.00	0	T			183129052	183129052	-1	no_errors	ENST00000456212	ensembl	human	known	69_37n	missense	89	12.75	13	SNP	1.000	C
PDE4B	5142	genome.wustl.edu	37	1	66834548	66834548	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:66834548C>T	ENST00000329654.4	+	16	1928	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	PDE4B_ENST00000423207.2_Missense_Mutation_p.R566C|PDE4B_ENST00000371045.5_Missense_Mutation_p.R409C|PDE4B_ENST00000371049.3_Missense_Mutation_p.R581C|PDE4B_ENST00000480109.2_Missense_Mutation_p.R348C	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	581					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	ATGGACAGACCGCATCATGGA	0.473																																						dbGAP											0													112.0	103.0	106.0					1																	66834548		2203	4300	6503	-	-	-	SO:0001583	missense	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1741C>T	1.37:g.66834548C>T	ENSP00000332116:p.Arg581Cys		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.R581C	ENST00000329654.4	37	c.1741	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528357	0.64860	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	4.44	4.44	0.53790	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.053837	0.85682	D	0.000000	T	0.79221	0.4409	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	T	0.81629	-0.0846	10	0.87932	D	0	.	12.3524	0.55155	0.2103:0.7897:0.0:0.0	.	348;566;451;571;581	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	C	581;581;581;566;409;348	ENSP00000332116:R581C;ENSP00000342637:R581C;ENSP00000360088:R581C;ENSP00000392947:R566C;ENSP00000360084:R409C;ENSP00000432592:R348C	ENSP00000332116:R581C	R	+	1	0	PDE4B	66607136	0.969000	0.33509	1.000000	0.80357	0.997000	0.91878	1.232000	0.32636	2.451000	0.82905	0.563000	0.77884	CGC	PDE4B	-	pfam_PDEase_catalytic_dom,prints_PDEase	ENSG00000184588		0.473	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	58	0.00	0	C	NM_002600		66834548	66834548	+1	no_errors	ENST00000329654	ensembl	human	known	69_37n	missense	75	11.76	10	SNP	1.000	T
PDGFRA	5156	genome.wustl.edu	37	4	55161392	55161392	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:55161392G>A	ENST00000257290.5	+	23	3554	c.3223G>A	c.(3223-3225)Gac>Aac	p.D1075N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D835N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1075	Ser-rich.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CATGATGGATGACATCGGCAT	0.537			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	dbGAP		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0													164.0	147.0	153.0					4																	55161392		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3223G>A	4.37:g.55161392G>A	ENSP00000257290:p.Asp1075Asn		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.D1075N	ENST00000257290.5	37	c.3223	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.458757	0.96240	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.78816	-1.21;-1.03	5.84	5.84	0.93424	.	0.000000	0.33691	U	0.004641	T	0.79094	0.4388	L	0.40543	1.245	0.80722	D	1	D	0.56521	0.976	P	0.50109	0.631	T	0.78545	-0.2163	10	0.46703	T	0.11	.	20.1494	0.98083	0.0:0.0:1.0:0.0	.	1075	P16234	PGFRA_HUMAN	N	835;1075	ENSP00000423325:D835N;ENSP00000257290:D1075N	ENSP00000423325:D835N	D	+	1	0	FIP1L1;PDGFRA	54856149	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.476000	0.97823	2.769000	0.95229	0.462000	0.41574	GAC	PDGFRA	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000134853		0.537	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2	85	0.00	0	G	NM_006206		55161392	55161392	+1	no_errors	ENST00000257290	ensembl	human	known	69_37n	missense	103	14.88	18	SNP	1.000	A
PDIA6	10130	genome.wustl.edu	37	2	10937874	10937874	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:10937874G>T	ENST00000272227.3	-	3	318	c.171C>A	c.(169-171)caC>caA	p.H57Q	PDIA6_ENST00000404824.2_Missense_Mutation_p.H105Q|PDIA6_ENST00000381611.4_Missense_Mutation_p.H62Q|PDIA6_ENST00000404371.2_Missense_Mutation_p.H109Q|PDIA6_ENST00000540494.1_Missense_Mutation_p.H54Q|PDIA6_ENST00000489662.1_5'UTR	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	57	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.	Contributes to redox potential value. {ECO:0000250}.			activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ATCTTTGACAGTGACCACACC	0.333																																					GBM(73;509 1219 34219 41343 41551)	dbGAP											0													138.0	130.0	133.0					2																	10937874		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.171C>A	2.37:g.10937874G>T	ENSP00000272227:p.His57Gln		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.H62Q	ENST00000272227.3	37	c.186	CCDS1675.1	2	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858595	0.71834	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.03860	3.78;3.78;3.78;3.78;3.78	6.17	3.06	0.35304	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	H	0.98542	4.26	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.999;0.995	D;D;D;D	0.85130	0.997;0.972;0.994;0.995	T	0.46373	-0.9196	10	0.87932	D	0	.	9.8479	0.41039	0.3111:0.0:0.6889:0.0	.	54;105;109;57	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	Q	57;109;105;54;62	ENSP00000272227:H57Q;ENSP00000385385:H109Q;ENSP00000384459:H105Q;ENSP00000438778:H54Q;ENSP00000371024:H62Q	ENSP00000272227:H57Q	H	-	3	2	PDIA6	10855325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.327000	0.33746	0.925000	0.37094	0.655000	0.94253	CAC	PDIA6	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Disulphide_isomerase	ENSG00000143870		0.333	PDIA6-001	KNOWN	basic|CCDS	protein_coding	PDIA6	HGNC	protein_coding	OTTHUMT00000206933.1	244	0.41	1	G	NM_005742		10937874	10937874	-1	no_errors	ENST00000381611	ensembl	human	known	69_37n	missense	228	24.42	74	SNP	1.000	T
PDZK1IP1	10158	genome.wustl.edu	37	1	47653030	47653030	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:47653030A>G	ENST00000294338.2	-	2	259	c.137T>C	c.(136-138)aTc>aCc	p.I46T	PDZK1IP1_ENST00000491793.1_5'Flank|PDZK1IP1_ENST00000371885.1_Missense_Mutation_p.I46T	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1	46						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)	3						TGCAAAGGCGATTGCAACGAG	0.632																																						dbGAP											0													77.0	64.0	69.0					1																	47653030		2203	4300	6503	-	-	-	SO:0001583	missense	0			U21049	CCDS546.1	1p33	2008-02-05			ENSG00000162366	ENSG00000162366			16887	protein-coding gene	gene with protein product		607178				9815914, 8701988, 12754212, 12837682	Standard	NM_005764		Approved	DD96, MAP17, SPAP	uc001cqw.3	Q13113	OTTHUMG00000007852	ENST00000294338.2:c.137T>C	1.37:g.47653030A>G	ENSP00000294338:p.Ile46Thr		Q6ICT9|Q96EI1	Missense_Mutation	SNP	NULL	p.I46T	ENST00000294338.2	37	c.137	CCDS546.1	1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.018599	0.54576	.	.	ENSG00000162366	ENST00000294338;ENST00000371885	.	.	.	4.48	4.48	0.54585	.	0.000000	0.50627	D	0.000118	T	0.72748	0.3499	M	0.76002	2.32	0.35528	D	0.802	D	0.76494	0.999	D	0.78314	0.991	T	0.81174	-0.1053	9	0.87932	D	0	-28.0503	10.3391	0.43866	1.0:0.0:0.0:0.0	.	46	Q13113	PDZ1I_HUMAN	T	46	.	ENSP00000294338:I46T	I	-	2	0	PDZK1IP1	47425617	0.643000	0.27269	0.713000	0.30519	0.576000	0.36127	4.740000	0.62087	2.002000	0.58637	0.460000	0.39030	ATC	PDZK1IP1	-	NULL	ENSG00000162366		0.632	PDZK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZK1IP1	HGNC	protein_coding	OTTHUMT00000021655.1	30	0.00	0	A	NM_005764		47653030	47653030	-1	no_errors	ENST00000294338	ensembl	human	known	69_37n	missense	33	17.07	7	SNP	0.654	G
PER2	8864	genome.wustl.edu	37	2	239162058	239162058	+	Frame_Shift_Del	DEL	G	G	-	rs544187604		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:239162058delG	ENST00000254657.3	-	19	2885	c.2606delC	c.(2605-2607)ccgfs	p.P869fs	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	869	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGGAGGTGCCGGGGGTGCTGC	0.672																																						dbGAP											0													25.0	26.0	26.0					2																	239162058		2202	4297	6499	-	-	-	SO:0001589	frameshift_variant	0			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2606delC	2.37:g.239162058delG	ENSP00000254657:p.Pro869fs		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Frame_Shift_Del	DEL	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.P869fs	ENST00000254657.3	37	c.2606	CCDS2528.1	2																																																																																			PER2	-	NULL	ENSG00000132326		0.672	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	31	0.00	0	G	NM_022817		239162058	239162058	-1	no_errors	ENST00000254657	ensembl	human	known	69_37n	frame_shift_del	20	22.22	6	DEL	0.003	-
PGAM5	192111	genome.wustl.edu	37	12	133291511	133291511	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:133291511T>G	ENST00000498926.2	+	2	317	c.259T>G	c.(259-261)Tcc>Gcc	p.S87A	PGAM5_ENST00000454808.2_5'UTR|PXMP2_ENST00000545677.1_Missense_Mutation_p.V126G|PGAM5_ENST00000317555.2_Missense_Mutation_p.S87A|PGAM5_ENST00000543955.1_5'UTR	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	87					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		AGAGCTGGCGTCCAAGCTGGA	0.542																																						dbGAP											0													167.0	120.0	136.0					12																	133291511		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.259T>G	12.37:g.133291511T>G	ENSP00000438465:p.Ser87Ala		A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1	p.S87A	ENST00000498926.2	37	c.259	CCDS53845.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.854|5.854	0.341687|0.341687	0.11069|0.11069	.|.	.|.	ENSG00000247077|ENSG00000176894	ENST00000317555;ENST00000498926|ENST00000545677	.|.	.|.	.|.	4.64|4.64	2.07|2.07	0.26955|0.26955	.|.	0.438594|.	0.27105|.	N|.	0.020914|.	T|T	0.42131|0.42131	0.1189|0.1189	L|L	0.32530|0.32530	0.975|0.975	0.41286|0.41286	D|D	0.986949|0.986949	B;B|.	0.15141|.	0.0;0.012|.	B;B|.	0.13407|.	0.004;0.009|.	T|T	0.41574|0.41574	-0.9501|-0.9501	9|6	0.07813|0.87932	T|D	0.8|0	-18.0738|-18.0738	1.8015|1.8015	0.03072|0.03072	0.2449:0.0768:0.2244:0.4538|0.2449:0.0768:0.2244:0.4538	.|.	87;87|.	Q96HS1;Q96HS1-2|.	PGAM5_HUMAN;.|.	A|G	87|126	.|.	ENSP00000321503:S87A|ENSP00000444697:V126G	S|V	+|+	1|2	0|0	PGAM5|PXMP2	131801584|131801584	0.105000|0.105000	0.21958|0.21958	0.640000|0.640000	0.29408|0.29408	0.454000|0.454000	0.32378|0.32378	0.558000|0.558000	0.23469|0.23469	0.613000|0.613000	0.30089|0.30089	0.379000|0.379000	0.24179|0.24179	TCC|GTC	PGAM5	-	NULL	ENSG00000247077		0.542	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM5	HGNC	protein_coding	OTTHUMT00000397562.1	72	0.00	0	T	NM_138575		133291511	133291511	+1	no_errors	ENST00000498926	ensembl	human	known	69_37n	missense	75	13.79	12	SNP	0.031	G
PGM5	5239	genome.wustl.edu	37	9	71080063	71080063	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:71080063C>G	ENST00000396396.1	+	7	1327	c.1098C>G	c.(1096-1098)ttC>ttG	p.F366L	PGM5_ENST00000396392.1_Missense_Mutation_p.F366L	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	366					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GATGGAGATTCTTCTCAAATC	0.438																																						dbGAP											0													187.0	174.0	178.0					9																	71080063		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1098C>G	9.37:g.71080063C>G	ENSP00000379678:p.Phe366Leu		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.F366L	ENST00000396396.1	37	c.1098	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096300	0.76870	.	.	ENSG00000154330	ENST00000396396;ENST00000396392	T;T	0.49720	0.77;0.77	5.78	3.57	0.40892	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.111471	0.64402	D	0.000006	T	0.70037	0.3178	H	0.98507	4.25	0.41747	D	0.989645	P	0.46621	0.881	P	0.50049	0.629	T	0.78056	-0.2353	10	0.87932	D	0	.	8.0285	0.30451	0.0:0.7193:0.0:0.2807	.	366	Q15124	PGM5_HUMAN	L	366	ENSP00000379678:F366L;ENSP00000379674:F366L	ENSP00000379674:F366L	F	+	3	2	PGM5	70269883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.850000	0.27737	1.586000	0.49944	0.655000	0.94253	TTC	PGM5	-	pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000154330		0.438	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	252	0.00	0	C	NM_021965		71080063	71080063	+1	no_errors	ENST00000396396	ensembl	human	known	69_37n	missense	192	33.56	97	SNP	1.000	G
PIAS4	51588	genome.wustl.edu	37	19	4033537	4033537	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:4033537G>A	ENST00000262971.2	+	9	1216	c.1101G>A	c.(1099-1101)gtG>gtA	p.V367V		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	367					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCCCCGTGTGCGACAAGC	0.687																																						dbGAP											0													33.0	30.0	31.0					19																	4033537		2195	4297	6492	-	-	-	SO:0001819	synonymous_variant	0			AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1101G>A	19.37:g.4033537G>A			O75926|Q96G19|Q9UN16	Silent	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.V367	ENST00000262971.2	37	c.1101	CCDS12118.1	19																																																																																			PIAS4	-	pfam_Znf_MIZ,pfscan_Znf_MIZ	ENSG00000105229		0.687	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS4	HGNC	protein_coding	OTTHUMT00000457496.1	20	0.00	0	G	NM_015897		4033537	4033537	+1	no_errors	ENST00000262971	ensembl	human	known	69_37n	silent	10	37.50	6	SNP	1.000	A
PIGQ	9091	genome.wustl.edu	37	16	633151	633151	+	Silent	SNP	T	T	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:633151T>G	ENST00000026218.5	+	10	1888	c.1800T>G	c.(1798-1800)gcT>gcG	p.A600A	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	600					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGCTGTGTGCTCCTGAACACG	0.642																																						dbGAP											0													109.0	108.0	108.0					16																	633151		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1800T>G	16.37:g.633151T>G			A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP	pfam_GlcNAc_Gpi1	p.A600	ENST00000026218.5	37	c.1800	CCDS10411.1	16																																																																																			PIGQ	-	NULL	ENSG00000007541		0.642	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	48	0.00	0	T	NM_004204		633151	633151	+1	no_errors	ENST00000026218	ensembl	human	known	69_37n	silent	62	13.89	10	SNP	0.000	G
PIK3R1	5295	genome.wustl.edu	37	5	67592114	67592114	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:67592114G>A	ENST00000521381.1	+	15	2546	c.1930G>A	c.(1930-1932)Ggc>Agc	p.G644S	PIK3R1_ENST00000336483.5_Missense_Mutation_p.G374S|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G644S|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G281S|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G644S|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G344S|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G652S	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	644	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAAGCGAGATGGCACTTTTCT	0.458			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												dbGAP		Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											180.0	171.0	174.0					5																	67592114		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1930G>A	5.37:g.67592114G>A	ENSP00000428056:p.Gly644Ser		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.G652S	ENST00000521381.1	37	c.1954	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.579736	0.96565	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	D;D;D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39	4.95	4.95	0.65309	SH2 motif (4);	0.045612	0.85682	D	0.000000	D	0.98877	0.9620	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99620	1.0983	10	0.87932	D	0	-14.6346	18.3669	0.90394	0.0:0.0:1.0:0.0	.	374;344;644	P27986-2;P27986-3;P27986	.;.;P85A_HUMAN	S	644;644;652;644;344;374;281	ENSP00000428056:G644S;ENSP00000429277:G644S;ENSP00000379855:G652S;ENSP00000274335:G644S;ENSP00000323512:G344S;ENSP00000338554:G374S;ENSP00000430098:G281S	ENSP00000274335:G644S	G	+	1	0	PIK3R1	67627870	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	9.657000	0.98554	2.583000	0.87209	0.650000	0.86243	GGC	PIK3R1	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000145675		0.458	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	131	0.00	0	G	NM_181504		67592114	67592114	+1	no_errors	ENST00000396611	ensembl	human	known	69_37n	missense	57	30.49	25	SNP	1.000	A
PIK3R2	5296	genome.wustl.edu	37	19	18273878	18273878	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:18273878A>G	ENST00000593731.1	+	10	1771	c.1211A>G	c.(1210-1212)cAc>cGc	p.H404R	PIK3R2_ENST00000222254.8_Missense_Mutation_p.H404R			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	404	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CTCATCAATCACTACCGCCAC	0.567																																						dbGAP											0													106.0	84.0	92.0					19																	18273878		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1211A>G	19.37:g.18273878A>G	ENSP00000471914:p.His404Arg		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.H404R	ENST00000593731.1	37	c.1211	CCDS12371.1	19	.	.	.	.	.	.	.	.	.	.	A	13.44	2.238498	0.39598	.	.	ENSG00000105647	ENST00000222254	T	0.66815	-0.23	3.69	2.65	0.31530	SH2 motif (4);	0.216324	0.47852	D	0.000206	T	0.74581	0.3735	M	0.89287	3.02	0.58432	D	0.999995	D	0.56287	0.975	P	0.49683	0.619	T	0.76780	-0.2833	10	0.87932	D	0	-39.1954	9.058	0.36416	0.8352:0.0:0.0:0.1648	.	404	O00459	P85B_HUMAN	R	404	ENSP00000222254:H404R	ENSP00000222254:H404R	H	+	2	0	PIK3R2	18134878	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	9.059000	0.93902	0.545000	0.28902	0.459000	0.35465	CAC	PIK3R2	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000105647		0.567	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2	97	0.00	0	A	NM_005027		18273878	18273878	+1	no_errors	ENST00000222254	ensembl	human	known	69_37n	missense	61	19.48	15	SNP	1.000	G
PJA2	9867	genome.wustl.edu	37	5	108691698	108691698	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:108691698C>T	ENST00000361189.2	-	7	1921	c.1682G>A	c.(1681-1683)gGa>gAa	p.G561E	PJA2_ENST00000361557.3_Missense_Mutation_p.G561E	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	561	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TTCAGCAACTCCTAGTCCATC	0.388																																						dbGAP											0													116.0	114.0	115.0					5																	108691698		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1682G>A	5.37:g.108691698C>T	ENSP00000354775:p.Gly561Glu		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G561E	ENST00000361189.2	37	c.1682	CCDS4099.1	5	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728076	0.89390	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.06528	3.29;3.29	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.17408	0.0418	L	0.29908	0.895	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.00920	-1.1514	10	0.59425	D	0.04	-29.5332	19.1954	0.93686	0.0:1.0:0.0:0.0	.	561	O43164	PJA2_HUMAN	E	561	ENSP00000354775:G561E;ENSP00000355284:G561E	ENSP00000354775:G561E	G	-	2	0	PJA2	108719597	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.285000	0.58989	2.772000	0.95346	0.650000	0.86243	GGA	PJA2	-	NULL	ENSG00000198961		0.388	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1	105	0.00	0	C	NM_014819		108691698	108691698	-1	no_errors	ENST00000361189	ensembl	human	known	69_37n	missense	53	23.19	16	SNP	1.000	T
PKD1L2	114780	genome.wustl.edu	37	16	81187729	81187729	+	RNA	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:81187729A>G	ENST00000525539.1	-	0	4242				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCCAGGCCATACAGGGTGACA	0.567																																						dbGAP											0													79.0	78.0	79.0					16																	81187729		2054	4208	6262	-	-	-			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81187729A>G			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	NULL	p.Y1415H	ENST00000525539.1	37	c.4243		16																																																																																			PKD1L2	-	NULL	ENSG00000166473		0.567	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387972.2	169	0.59	1	A			81187729	81187729	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000525539	ensembl	human	known	69_37n	missense	127	22.42	37	SNP	0.846	G
PKHD1	5314	genome.wustl.edu	37	6	51900493	51900493	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:51900493A>G	ENST00000371117.3	-	28	3399	c.3124T>C	c.(3124-3126)Tct>Cct	p.S1042P	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1042P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1042	IPT/TIG 5.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCCAAACTAGAGCCTCGGATG	0.433																																						dbGAP											0													93.0	90.0	91.0					6																	51900493		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3124T>C	6.37:g.51900493A>G	ENSP00000360158:p.Ser1042Pro		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.S1042P	ENST00000371117.3	37	c.3124	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398636	0.62177	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.78707	-1.2;-1.2	5.57	3.06	0.35304	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.227238	0.38436	N	0.001694	T	0.66761	0.2822	L	0.57536	1.79	0.20821	N	0.999849	D;D	0.60575	0.985;0.988	P;P	0.56343	0.693;0.796	T	0.58092	-0.7697	10	0.33141	T	0.24	.	4.1077	0.10045	0.6261:0.0:0.1015:0.2724	.	1042;1042	P08F94-2;P08F94	.;PKHD1_HUMAN	P	1042	ENSP00000360158:S1042P;ENSP00000341097:S1042P	ENSP00000341097:S1042P	S	-	1	0	PKHD1	52008452	0.991000	0.36638	0.825000	0.32803	0.894000	0.52154	2.171000	0.42453	0.953000	0.37825	0.528000	0.53228	TCT	PKHD1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000170927		0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	52	0.00	0	A	NM_138694		51900493	51900493	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	45	11.76	6	SNP	0.486	G
PLA2G2F	64600	genome.wustl.edu	37	1	20471184	20471184	+	Splice_Site	SNP	T	T	C	rs368567704	byFrequency	TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:20471184T>C	ENST00000375102.3	+	4	526		c.e4+2			NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF						glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TAGTCTGCAGTGAGTCCCTCC	0.562													T|||	2	0.000399361	0.0	0.0	5008	,	,		17861	0.001		0.0	False		,,,				2504	0.001					dbGAP											0													91.0	70.0	77.0					1																	20471184		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.424+2T>C	1.37:g.20471184T>C			Q5R385|Q8N217|Q9H506	Splice_Site	SNP	-	e4+2	ENST00000375102.3	37	c.424+2	CCDS204.2	1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.941042	0.34283	.	.	ENSG00000158786	ENST00000375102	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0904	0.48113	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLA2G2F	20343771	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	4.209000	0.58493	1.881000	0.54492	0.533000	0.62120	.	PLA2G2F	-	-	ENSG00000158786		0.562	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2F	HGNC	protein_coding	OTTHUMT00000007687.1	52	0.00	0	T	NM_022819	Intron	20471184	20471184	+1	no_errors	ENST00000375102	ensembl	human	known	69_37n	splice_site	28	22.22	8	SNP	1.000	C
PLAC8	51316	genome.wustl.edu	37	4	84026141	84026141	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:84026141C>T	ENST00000426923.2	-	3	229	c.151G>A	c.(151-153)Ggg>Agg	p.G51R	PLAC8_ENST00000411416.2_Missense_Mutation_p.G51R|PLAC8_ENST00000505406.1_Missense_Mutation_p.G51R|PLAC8_ENST00000509973.1_5'UTR|PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000311507.4_Missense_Mutation_p.G51R	NM_001130715.1	NP_001124187.1	Q9UHV8	PP13_HUMAN	placenta-specific 8	37	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				ACTTGACACCCAAGGCACGGG	0.498																																						dbGAP											0													92.0	80.0	84.0					4																	84026141		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF208846	CCDS3601.1	4q21.22	2006-05-20			ENSG00000145287	ENSG00000145287			19254	protein-coding gene	gene with protein product		607515				12758124, 12384430	Standard	NM_016619		Approved	onzin, C15	uc003hoe.3	Q9NZF1	OTTHUMG00000130294	ENST00000426923.2:c.151G>A	4.37:g.84026141C>T	ENSP00000399700:p.Gly51Arg		C5HZ15	Missense_Mutation	SNP	pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich	p.G51R	ENST00000426923.2	37	c.151	CCDS3601.1	4	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049154	0.55110	.	.	ENSG00000145287	ENST00000311507;ENST00000411416;ENST00000505406;ENST00000426923	.	.	.	5.37	0.533	0.17121	.	0.390516	0.28290	N	0.015893	T	0.48205	0.1487	M	0.73962	2.25	0.09310	N	0.999998	D	0.54397	0.966	P	0.52856	0.711	T	0.42832	-0.9428	9	0.24483	T	0.36	-2.4255	9.3467	0.38113	0.4809:0.4038:0.1153:0.0	.	51	Q9NZF1	PLAC8_HUMAN	R	51	.	ENSP00000309509:G51R	G	-	1	0	PLAC8	84245165	0.000000	0.05858	0.474000	0.27266	0.033000	0.12548	0.183000	0.16919	0.239000	0.21243	0.561000	0.74099	GGG	PLAC8	-	pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich	ENSG00000145287		0.498	PLAC8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLAC8	HGNC	protein_coding	OTTHUMT00000363079.1	77	0.00	0	C	NM_016619		84026141	84026141	-1	no_errors	ENST00000311507	ensembl	human	known	69_37n	missense	39	31.58	18	SNP	0.042	T
PLCB1	23236	genome.wustl.edu	37	20	8609062	8609064	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:8609062_8609064delAAG	ENST00000338037.6	+	4	395_397	c.368_370delAAG	c.(367-372)caagaa>caa	p.E125del	PLCB1_ENST00000378641.3_In_Frame_Del_p.E125del|PLCB1_ENST00000378637.2_In_Frame_Del_p.E125del	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	125					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GTGGCTTTCCAAGAAGAAGTGGC	0.468																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.368_370delAAG	20.37:g.8609068_8609070delAAG	ENSP00000338185:p.Glu125del		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	In_Frame_Del	DEL	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E125in_frame_del	ENST00000338037.6	37	c.368_370	CCDS13102.1	20																																																																																			PLCB1	-	pirsf_PLC-beta	ENSG00000182621		0.468	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	55	0.00	0	AAG			8609062	8609064	+1	no_errors	ENST00000338037	ensembl	human	known	69_37n	in_frame_del	70	17.65	15	DEL	1.000:1.000:1.000	-
PLEC	5339	genome.wustl.edu	37	8	144995305	144995305	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:144995305A>G	ENST00000322810.4	-	32	9264	c.9095T>C	c.(9094-9096)gTc>gCc	p.V3032A	PLEC_ENST00000357649.2_Missense_Mutation_p.V2899A|PLEC_ENST00000345136.3_Missense_Mutation_p.V2895A|PLEC_ENST00000436759.2_Missense_Mutation_p.V2922A|PLEC_ENST00000398774.2_Missense_Mutation_p.V2863A|PLEC_ENST00000356346.3_Missense_Mutation_p.V2881A|PLEC_ENST00000354589.3_Missense_Mutation_p.V2895A|PLEC_ENST00000354958.2_Missense_Mutation_p.V2873A|PLEC_ENST00000527096.1_Missense_Mutation_p.V2918A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3032	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCAGTGTAGACCAGCTCCCC	0.632																																						dbGAP											0													57.0	65.0	62.0					8																	144995305		2203	4300	6503	-	-	-	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9095T>C	8.37:g.144995305A>G	ENSP00000323856:p.Val3032Ala		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.V3032A	ENST00000322810.4	37	c.9095	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	A	5.948	0.358990	0.11239	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78126	-1.12;-1.12;-1.15;-1.15;-1.13;-1.12;-1.12;-1.12;-1.12	4.68	2.23	0.28157	.	0.306168	0.25593	U	0.029608	T	0.56529	0.1991	L	0.29908	0.895	0.32494	N	0.539732	B;B;B;B;B;B;B;B	0.25955	0.138;0.138;0.138;0.085;0.138;0.138;0.138;0.138	B;B;B;B;B;B;B;B	0.21151	0.033;0.033;0.019;0.015;0.019;0.019;0.033;0.019	T	0.51787	-0.8661	10	0.06494	T	0.89	.	5.6941	0.17845	0.7613:0.0:0.0865:0.1522	.	2922;2881;2873;3032;2863;2895;2899;2895	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	A	2895;2899;2895;2863;3032;2873;2881;2922;2918	ENSP00000344848:V2895A;ENSP00000350277:V2899A;ENSP00000346602:V2895A;ENSP00000381756:V2863A;ENSP00000323856:V3032A;ENSP00000347044:V2873A;ENSP00000348702:V2881A;ENSP00000388180:V2922A;ENSP00000434583:V2918A	ENSP00000323856:V3032A	V	-	2	0	PLEC	145067293	0.999000	0.42202	0.998000	0.56505	0.218000	0.24690	2.202000	0.42743	0.726000	0.32339	0.368000	0.22195	GTC	PLEC	-	NULL	ENSG00000178209		0.632	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	47	0.00	0	A	NM_000445		144995305	144995305	-1	no_errors	ENST00000322810	ensembl	human	known	69_37n	missense	59	20.51	16	SNP	1.000	G
PLEKHH1	57475	genome.wustl.edu	37	14	68044077	68044077	+	Silent	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:68044077C>G	ENST00000329153.5	+	18	2652	c.2520C>G	c.(2518-2520)tcC>tcG	p.S840S	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	840	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TATACGCCTCCCTCACCACCC	0.597																																						dbGAP											0													32.0	32.0	32.0					14																	68044077		2033	4174	6207	-	-	-	SO:0001819	synonymous_variant	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2520C>G	14.37:g.68044077C>G			A6H8X6|Q6PJL4|Q6ZWC7	Silent	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.S840	ENST00000329153.5	37	c.2520	CCDS45128.1	14																																																																																			PLEKHH1	-	smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000054690		0.597	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	55	0.00	0	C	XM_031054		68044077	68044077	+1	no_errors	ENST00000329153	ensembl	human	known	69_37n	silent	50	13.79	8	SNP	0.986	G
PLEKHH2	130271	genome.wustl.edu	37	2	43939380	43939380	+	Missense_Mutation	SNP	A	A	T	rs78774501		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:43939380A>T	ENST00000282406.4	+	15	2428	c.2318A>T	c.(2317-2319)cAc>cTc	p.H773L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	773	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACTGAAAAACACACATACTAT	0.383																																						dbGAP											0													157.0	147.0	151.0					2																	43939380		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2318A>T	2.37:g.43939380A>T	ENSP00000282406:p.His773Leu		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.H773L	ENST00000282406.4	37	c.2318	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931105	0.52866	.	.	ENSG00000152527	ENST00000282406	T	0.12147	2.71	5.16	4.02	0.46733	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.166647	0.51477	D	0.000090	T	0.09774	0.0240	L	0.37897	1.145	0.33183	D	0.549841	B;B	0.22211	0.041;0.066	B;B	0.23275	0.045;0.022	T	0.08452	-1.0721	10	0.72032	D	0.01	-13.1957	3.1383	0.06447	0.6092:0.0:0.3908:0.0	.	773;210	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	L	773	ENSP00000282406:H773L	ENSP00000282406:H773L	H	+	2	0	PLEKHH2	43792884	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.865000	0.62998	1.935000	0.56089	0.377000	0.23210	CAC	PLEKHH2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000152527		0.383	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	166	0.00	0	A	NM_172069		43939380	43939380	+1	no_errors	ENST00000282406	ensembl	human	known	69_37n	missense	141	24.19	45	SNP	1.000	T
PMS2	5395	genome.wustl.edu	37	7	6026963	6026963	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:6026963C>G	ENST00000265849.7	-	11	1538	c.1433G>C	c.(1432-1434)aGt>aCt	p.S478T	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.S478T|PMS2_ENST00000441476.2_Missense_Mutation_p.S372T	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	478					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGGTCCGTGACTGGAACTCAC	0.577			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													101.0	99.0	100.0					7																	6026963		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1433G>C	7.37:g.6026963C>G	ENSP00000265849:p.Ser478Thr		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.S478T	ENST00000265849.7	37	c.1433	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	c	0.774	-0.764648	0.02996	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.85773	1.01;1.01;-2.03	5.84	-11.7	0.00046	.	2.768340	0.00848	N	0.001811	T	0.50429	0.1615	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.12013	0.005;0.001;0.003	B;B;B	0.06405	0.002;0.001;0.002	T	0.58323	-0.7656	10	0.13853	T	0.58	3.5645	0.4434	0.00489	0.2723:0.2208:0.2655:0.2413	.	478;478;372	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	T	478;431;372;478	ENSP00000265849:S478T;ENSP00000392843:S372T;ENSP00000384308:S478T	ENSP00000265849:S478T	S	-	2	0	PMS2	5993489	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.551000	0.00928	-3.288000	0.00195	-1.291000	0.01355	AGT	PMS2	-	NULL	ENSG00000122512		0.577	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	102	0.00	0	C	NM_000535		6026963	6026963	-1	no_errors	ENST00000265849	ensembl	human	known	69_37n	missense	38	68.60	83	SNP	0.000	G
PLXNA4	91584	genome.wustl.edu	37	7	131866334	131866334	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:131866334C>A	ENST00000359827.3	-	18	4260	c.3298G>T	c.(3298-3300)Gcc>Tcc	p.A1100S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1100S			Q9HCM2	PLXA4_HUMAN	plexin A4	1100	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGAGCGAGGGCGGGCGCCTGA	0.582																																						dbGAP											0													60.0	64.0	63.0					7																	131866334		1939	4119	6058	-	-	-	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3298G>T	7.37:g.131866334C>A	ENSP00000352882:p.Ala1100Ser		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.A1100S	ENST00000359827.3	37	c.3298	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	8.443	0.851343	0.17034	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.77750	-1.12;-1.12	5.25	5.25	0.73442	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.107337	0.64402	D	0.000006	T	0.58623	0.2135	N	0.05158	-0.105	0.53005	D	0.999966	B	0.15473	0.013	B	0.21546	0.035	T	0.58301	-0.7660	10	0.05436	T	0.98	.	18.8552	0.92249	0.0:1.0:0.0:0.0	.	1100	Q9HCM2	PLXA4_HUMAN	S	1100	ENSP00000323194:A1100S;ENSP00000352882:A1100S	ENSP00000323194:A1100S	A	-	1	0	PLXNA4	131516874	1.000000	0.71417	0.953000	0.39169	0.476000	0.33039	4.528000	0.60580	2.459000	0.83118	0.561000	0.74099	GCC	PLXNA4	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000221866		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	54	0.00	0	C	NM_181775		131866334	131866334	-1	no_errors	ENST00000321063	ensembl	human	known	69_37n	missense	55	10.45	7	SNP	1.000	A
PNLIPRP2	5408	genome.wustl.edu	37	10	118386474	118386474	+	RNA	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:118386474G>T	ENST00000298771.7	+	0	455				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TCGGGTTGTTGGGGCGGAGAC	0.562																																						dbGAP											0													77.0	73.0	74.0					10																	118386474		1948	4195	6143	-	-	-			0			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118386474G>T			A8K627|Q6IB55	Missense_Mutation	SNP	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase	p.G144W	ENST00000298771.7	37	c.430		10	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313421	0.23908	.	.	ENSG00000165862	ENST00000537242	D	0.95238	-3.65	5.56	5.56	0.83823	Lipase, N-terminal (1);	0.000000	0.56097	U	0.000038	D	0.97433	0.9160	.	.	.	0.37405	D	0.913001	D	0.89917	1.0	D	0.97110	1.0	D	0.99907	1.1186	9	0.87932	D	0	.	18.2912	0.90131	0.0:0.0:1.0:0.0	.	144	P54317	LIPR2_HUMAN	W	144	ENSP00000446346:G144W	ENSP00000446346:G144W	G	+	1	0	PNLIPRP2	118376464	1.000000	0.71417	0.997000	0.53966	0.024000	0.10985	7.472000	0.80996	2.608000	0.88229	0.561000	0.74099	GGG	PNLIPRP2	-	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase	ENSG00000165862		0.562	PNLIPRP2-004	KNOWN	basic	processed_transcript	PNLIPRP2	HGNC	polymorphic_pseudogene	OTTHUMT00000050546.6	116	0.85	1	G	NM_005396		118386474	118386474	+1	no_errors	ENST00000537242	ensembl	human	known	69_37n	missense	127	18.59	29	SNP	1.000	T
POLA1	5422	genome.wustl.edu	37	X	24753571	24753571	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:24753571C>T	ENST00000379059.3	+	18	1886	c.1871C>T	c.(1870-1872)gCa>gTa	p.A624V	POLA1_ENST00000379068.3_Missense_Mutation_p.A630V	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	624					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TTTTTCCTTGCAAAAGTTCAC	0.388																																						dbGAP											0													160.0	142.0	148.0					X																	24753571		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1871C>T	X.37:g.24753571C>T	ENSP00000368349:p.Ala624Val		Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.A630V	ENST00000379059.3	37	c.1889	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310601	0.81358	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.46819	0.86;0.86	4.76	4.76	0.60689	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.86178	2.8	0.80722	D	1	D	0.56287	0.975	P	0.57502	0.822	T	0.72250	-0.4348	10	0.44086	T	0.13	-9.6459	17.1602	0.86802	0.0:1.0:0.0:0.0	.	624	P09884	DPOLA_HUMAN	V	630;624	ENSP00000368358:A630V;ENSP00000368349:A624V	ENSP00000368349:A624V	A	+	2	0	POLA1	24663492	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.005000	0.76323	2.319000	0.78375	0.513000	0.50165	GCA	POLA1	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	ENSG00000101868		0.388	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	205	0.00	0	C	NM_016937		24753571	24753571	+1	no_errors	ENST00000379068	ensembl	human	known	69_37n	missense	230	13.21	35	SNP	1.000	T
PNMA3	29944	genome.wustl.edu	37	X	152225668	152225668	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:152225668G>C	ENST00000370264.4	+	1	282	c.256G>C	c.(256-258)Ggg>Cgg	p.G86R	PNMA3_ENST00000447306.1_Missense_Mutation_p.G86R|PNMA3_ENST00000370265.4_Missense_Mutation_p.G86R			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	86					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					accaggaaagggggggccctg	0.532																																						dbGAP											0													47.0	51.0	50.0					X																	152225668		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.256G>C	X.37:g.152225668G>C	ENSP00000359286:p.Gly86Arg		D3DWT7|Q9H0A4	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.G86R	ENST00000370264.4	37	c.256	CCDS35435.2	X	.	.	.	.	.	.	.	.	.	.	g	15.27	2.782328	0.49891	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.21191	2.02;2.02;2.02	1.93	1.06	0.20224	.	.	.	.	.	T	0.36441	0.0967	M	0.62154	1.92	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11567	-1.0582	9	0.66056	D	0.02	.	3.9881	0.09525	0.227:0.0:0.773:0.0	.	86	Q9UL41	PNMA3_HUMAN	R	86	ENSP00000359288:G86R;ENSP00000407642:G86R;ENSP00000359286:G86R	ENSP00000359286:G86R	G	+	1	0	PNMA3	151976324	0.511000	0.26179	0.019000	0.16419	0.664000	0.39144	1.200000	0.32247	0.289000	0.22422	0.411000	0.27672	GGG	PNMA3	-	NULL	ENSG00000183837		0.532	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA3	HGNC	protein_coding	OTTHUMT00000060946.2	58	0.00	0	G	NM_013364		152225668	152225668	+1	no_errors	ENST00000370264	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	0.015	C
POLE	5426	genome.wustl.edu	37	12	133201511	133201511	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:133201511C>T	ENST00000320574.5	-	48	6770	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	POLE_ENST00000535270.1_Missense_Mutation_p.A2216T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2243					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.A2243S(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ATGGTGAGGGCGAAGTCTCCC	0.657								DNA polymerases (catalytic subunits)																														dbGAP											2	Substitution - Missense(2)	lung(2)											96.0	95.0	96.0					12																	133201511		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6727G>A	12.37:g.133201511C>T	ENSP00000322570:p.Ala2243Thr		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.A2254T	ENST00000320574.5	37	c.6760	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	C	1.455	-0.564026	0.03939	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.02421	4.3;4.3;4.3	5.52	-8.86	0.00795	.	1.382530	0.04397	N	0.363543	T	0.01189	0.0039	N	0.03238	-0.38	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.48906	-0.8993	10	0.15952	T	0.53	.	6.3917	0.21591	0.3421:0.2121:0.0:0.4458	.	2243;453	Q07864;B3KS74	DPOE1_HUMAN;.	T	453;2243;2254;213;2216	ENSP00000322570:A2243T;ENSP00000406383:A2254T;ENSP00000445753:A2216T	ENSP00000322473:A213T	A	-	1	0	POLE	131711584	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.816000	0.01720	-1.280000	0.02402	-0.258000	0.10820	GCC	POLE	-	NULL	ENSG00000177084		0.657	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	66	0.00	0	C	NM_006231		133201511	133201511	-1	no_errors	ENST00000455752	ensembl	human	known	69_37n	missense	56	19.18	14	SNP	0.000	T
PON1	5444	genome.wustl.edu	37	7	94935634	94935634	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:94935634T>C	ENST00000222381.3	-	7	974	c.743A>G	c.(742-744)tAt>tGt	p.Y248C	PON1_ENST00000542556.1_Missense_Mutation_p.Y248C	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	248					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	ATGCTTTTCATACACATGAAT	0.338																																					GBM(119;715 1622 17358 22490 33240)	dbGAP											0													152.0	149.0	150.0					7																	94935634		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.743A>G	7.37:g.94935634T>C	ENSP00000222381:p.Tyr248Cys		B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase1	p.Y248C	ENST00000222381.3	37	c.743	CCDS5638.1	7	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273525	0.59649	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.50548	0.74;0.74	4.83	3.6	0.41247	Six-bladed beta-propeller, TolB-like (1);	0.274261	0.36268	N	0.002696	T	0.66237	0.2769	M	0.82433	2.59	0.35155	D	0.770153	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.76016	-0.3113	10	0.87932	D	0	-15.4048	8.09	0.30795	0.3517:0.0:0.0:0.6483	.	248;248	F5H4W9;P27169	.;PON1_HUMAN	C	248	ENSP00000222381:Y248C;ENSP00000444854:Y248C	ENSP00000222381:Y248C	Y	-	2	0	PON1	94773570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.038000	0.49783	2.156000	0.67533	0.459000	0.35465	TAT	PON1	-	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase	ENSG00000005421		0.338	PON1-001	KNOWN	basic|CCDS	protein_coding	PON1	HGNC	protein_coding	OTTHUMT00000332865.2	101	0.00	0	T	NM_000446		94935634	94935634	-1	no_errors	ENST00000222381	ensembl	human	known	69_37n	missense	84	18.45	19	SNP	1.000	C
POTEE	445582	genome.wustl.edu	37	2	132021661	132021661	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:132021661T>C	ENST00000356920.5	+	15	2727	c.2633T>C	c.(2632-2634)cTa>cCa	p.L878P	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	878	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ACCCTGCGCCTAGACCTGGCT	0.612																																						dbGAP											0													29.0	32.0	31.0					2																	132021661		2181	4250	6431	-	-	-	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2633T>C	2.37:g.132021661T>C	ENSP00000439189:p.Leu878Pro		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.L878P	ENST00000356920.5	37	c.2633	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	13.07	2.128828	0.37533	.	.	ENSG00000188219	ENST00000356920	T	0.10382	2.88	.	.	.	.	.	.	.	.	T	0.43055	0.1230	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.29181	-1.0020	8	0.87932	D	0	.	4.5487	0.12098	0.0:6.0E-4:0.0:0.9994	.	878	Q6S8J3	POTEE_HUMAN	P	878	ENSP00000439189:L878P	ENSP00000439189:L878P	L	+	2	0	AC131180.1	131738131	1.000000	0.71417	0.099000	0.21106	0.100000	0.18952	5.388000	0.66249	0.103000	0.17682	0.102000	0.15555	CTA	AC131180.1	-	pfam_Actin-like,smart_Actin-like	ENSG00000188219		0.612	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Clone_based_ensembl_gene	protein_coding		96	0.00	0	T	NM_001083538		132021661	132021661	+1	no_errors	ENST00000356920	ensembl	human	known	69_37n	missense	93	16.22	18	SNP	1.000	C
PPFIA2	8499	genome.wustl.edu	37	12	81777849	81777849	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:81777849T>C	ENST00000549396.1	-	9	1097	c.937A>G	c.(937-939)Att>Gtt	p.I313V	PPFIA2_ENST00000548586.1_Missense_Mutation_p.I313V|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000333447.7_Missense_Mutation_p.I295V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.I295V|PPFIA2_ENST00000550584.2_Missense_Mutation_p.I313V|PPFIA2_ENST00000550359.2_Missense_Mutation_p.I160V|PPFIA2_ENST00000407050.4_Missense_Mutation_p.I239V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.I214V|PPFIA2_ENST00000552948.1_Missense_Mutation_p.I313V|PPFIA2_ENST00000545296.2_5'UTR	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	313	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTGTTTTAATGAGATCCTTT	0.433																																						dbGAP											0													160.0	151.0	154.0					12																	81777849		1912	4125	6037	-	-	-	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.937A>G	12.37:g.81777849T>C	ENSP00000450337:p.Ile313Val		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.I313V	ENST00000549396.1	37	c.937	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	T	10.19	1.281384	0.23392	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T	0.77489	1.43;1.43;1.43;-1.1;1.43;1.43;1.43	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.73953	0.3653	M	0.71581	2.175	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.68074	-0.5505	10	0.22109	T	0.4	-19.9732	10.6103	0.45419	0.0:0.0713:0.0:0.9287	.	213;313	B7Z4H8;O75334	.;LIPA2_HUMAN	V	313;295;239;324;295;313;214;313	ENSP00000450337:I313V;ENSP00000450298:I295V;ENSP00000385093:I239V;ENSP00000327416:I295V;ENSP00000449338:I313V;ENSP00000388373:I214V;ENSP00000447868:I313V	ENSP00000327416:I295V	I	-	1	0	PPFIA2	80301980	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.250000	0.58772	2.250000	0.74265	0.528000	0.53228	ATT	PPFIA2	-	NULL	ENSG00000139220		0.433	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	217	0.00	0	T			81777849	81777849	-1	no_errors	ENST00000549396	ensembl	human	known	69_37n	missense	226	16.30	44	SNP	1.000	C
PPP1R12B	4660	genome.wustl.edu	37	1	202407190	202407190	+	Intron	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:202407190delT	ENST00000608999.1	+	10	1611				RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000480184.1_Frame_Shift_Del_p.V499fs|PPP1R12B_ENST00000356764.2_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCAAGGCAGTTTTTTTTTTC	0.388																																						dbGAP											0									,,	92,128,3982		2,0,88,2,124,1885	28.0	30.0	30.0		,,	1.9	0.0	1		31	174,230,7838		0,1,173,13,203,3731	no	intron,utr-3,codingComplex	PPP1R12B	NM_002481.3,NM_001167858.1,NM_001167857.1	,,	2,1,261,15,327,5616	A1A1,A1A2,A1R,A2A2,A2R,RR		4.9017,5.2356,5.0145	,,	,,	202407190	266,358,11820	2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+38T>-	1.37:g.202407190delT			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F502fs	ENST00000608999.1	37	c.1496	CCDS1426.1	1																																																																																			PPP1R12B	-	NULL	ENSG00000077157		0.388	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	29	0.00	0	T	NM_032105		202407190	202407190	+1	no_errors	ENST00000480184	ensembl	human	novel	69_37n	frame_shift_del	20	16.00	4	DEL	0.041	-
PPP2R3A	5523	genome.wustl.edu	37	3	135721144	135721144	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:135721144T>C	ENST00000264977.3	+	2	1421	c.804T>C	c.(802-804)aaT>aaC	p.N268N	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	268					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAGTGGTAATGATACAATTT	0.343																																						dbGAP											0													72.0	73.0	72.0					3																	135721144		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.804T>C	3.37:g.135721144T>C			A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	pfscan_EF_HAND_2	p.N268	ENST00000264977.3	37	c.804	CCDS3087.1	3																																																																																			PPP2R3A	-	NULL	ENSG00000073711		0.343	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	61	0.00	0	T	NM_002718		135721144	135721144	+1	no_errors	ENST00000264977	ensembl	human	known	69_37n	silent	61	30.68	27	SNP	0.790	C
PPP2R3C	55012	genome.wustl.edu	37	14	35579138	35579138	+	Splice_Site	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:35579138C>G	ENST00000261475.5	-	4	645		c.e4-1		PPP2R3C_ENST00000555644.1_Splice_Site	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma						activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		ACCATAAGTTCTTAAGAGAAT	0.358																																						dbGAP											0													88.0	77.0	81.0					14																	35579138		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.292-1G>C	14.37:g.35579138C>G			B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Splice_Site	SNP	-	e4-1	ENST00000261475.5	37	c.292-1	CCDS9654.1	14	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369521	0.82463	.	.	ENSG00000092020	ENST00000261475;ENST00000555644;ENST00000557278	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7297	0.96177	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPP2R3C	34648889	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.720000	0.84759	2.658000	0.90341	0.650000	0.86243	.	PPP2R3C	-	-	ENSG00000092020		0.358	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3C	HGNC	protein_coding	OTTHUMT00000276687.1	70	0.00	0	C	NM_017917	Intron	35579138	35579138	-1	no_errors	ENST00000261475	ensembl	human	known	69_37n	splice_site	61	30.68	27	SNP	1.000	G
PPP3CC	5533	genome.wustl.edu	37	8	22355573	22355573	+	Silent	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:22355573G>C	ENST00000240139.5	+	4	759	c.432G>C	c.(430-432)cgG>cgC	p.R144R	PPP3CC_ENST00000518852.1_Silent_p.R144R|PPP3CC_ENST00000397775.3_Silent_p.R144R|PPP3CC_ENST00000289963.8_Silent_p.R144R	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	144					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTCTGCTTCGGGGAAATCATG	0.348																																						dbGAP											0													136.0	126.0	130.0					8																	22355573		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.432G>C	8.37:g.22355573G>C			B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.G21A	ENST00000240139.5	37	c.62	CCDS34859.1	8	.	.	.	.	.	.	.	.	.	.	G	9.571	1.121050	0.20877	.	.	ENSG00000120910	ENST00000521651	.	.	.	5.93	2.18	0.27775	.	.	.	.	.	T	0.57242	0.2040	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48139	-0.9061	4	.	.	.	-8.9438	8.5469	0.33426	0.7487:0.0:0.2513:0.0	.	.	.	.	A	21	.	.	G	+	2	0	PPP3CC	22411518	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.742000	0.26216	0.127000	0.18452	-0.302000	0.09304	GGG	PPP3CC	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000120910		0.348	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP3CC	HGNC	protein_coding	OTTHUMT00000375652.1	234	0.00	0	G	NM_005605		22355573	22355573	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000521651	ensembl	human	putative	69_37n	missense	190	16.67	38	SNP	1.000	C
PPRC1	23082	genome.wustl.edu	37	10	103904781	103904781	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:103904781G>A	ENST00000278070.2	+	8	3652	c.3613G>A	c.(3613-3615)Gtt>Att	p.V1205I	PPRC1_ENST00000370012.1_Missense_Mutation_p.V172I|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCCAGCGGCGTTGACATTCC	0.547																																						dbGAP											0													63.0	65.0	64.0					10																	103904781		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3613G>A	10.37:g.103904781G>A	ENSP00000278070:p.Val1205Ile		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V1205I	ENST00000278070.2	37	c.3613	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206336	0.39003	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.30714	1.92;1.52	5.95	3.74	0.42951	.	0.228496	0.30930	N	0.008588	T	0.12860	0.0312	N	0.08118	0	0.80722	D	1	B;B	0.21309	0.054;0.032	B;B	0.12156	0.007;0.003	T	0.10567	-1.0624	10	0.25751	T	0.34	.	4.5192	0.11950	0.2135:0.0:0.5841:0.2024	.	1085;1205	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	I	1205;172	ENSP00000278070:V1205I;ENSP00000359029:V172I	ENSP00000278070:V1205I	V	+	1	0	PPRC1	103894771	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.937000	0.28951	0.606000	0.29965	0.655000	0.94253	GTT	PPRC1	-	NULL	ENSG00000148840		0.547	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	109	0.00	0	G	NM_015062		103904781	103904781	+1	no_errors	ENST00000278070	ensembl	human	known	69_37n	missense	90	21.74	25	SNP	0.997	A
PPTC7	160760	genome.wustl.edu	37	12	110989696	110989696	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:110989696A>G	ENST00000354300.3	-	2	589	c.301T>C	c.(301-303)Tgt>Cgt	p.C101R		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	101	PP2C-like.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						AAACGTTCACACGTCCGCATT	0.428																																						dbGAP											0													131.0	115.0	120.0					12																	110989696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.301T>C	12.37:g.110989696A>G	ENSP00000346255:p.Cys101Arg		B3KWC5|Q68DZ7|Q6UY82	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.C101R	ENST00000354300.3	37	c.301	CCDS9149.1	12	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279886	0.80692	.	.	ENSG00000196850	ENST00000354300	.	.	.	5.96	5.96	0.96718	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	D	0.86573	0.5965	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89744	0.3935	9	0.66056	D	0.02	-11.5133	16.4338	0.83864	1.0:0.0:0.0:0.0	.	101	Q8NI37	PPTC7_HUMAN	R	101	.	ENSP00000346255:C101R	C	-	1	0	PPTC7	109474079	1.000000	0.71417	0.934000	0.37439	0.628000	0.37860	9.335000	0.96500	2.270000	0.75569	0.533000	0.62120	TGT	PPTC7	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000196850		0.428	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPTC7	HGNC	protein_coding	OTTHUMT00000404635.1	80	0.00	0	A	NM_139283		110989696	110989696	-1	no_errors	ENST00000354300	ensembl	human	known	69_37n	missense	47	18.97	11	SNP	1.000	G
PRDM2	7799	genome.wustl.edu	37	1	14109029	14109029	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:14109029G>A	ENST00000235372.7	+	8	5595	c.4739G>A	c.(4738-4740)aGa>aAa	p.R1580K	PRDM2_ENST00000311066.5_Missense_Mutation_p.R1580K|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1379K|PRDM2_ENST00000343137.4_Missense_Mutation_p.R1379K|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCCCGATAAGAATGGCCAAA	0.478																																						dbGAP											0													64.0	67.0	66.0					1																	14109029		2203	4300	6503	-	-	-	SO:0001583	missense	0			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4739G>A	1.37:g.14109029G>A	ENSP00000235372:p.Arg1580Lys		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.R1580K	ENST00000235372.7	37	c.4739	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569515	0.45798	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01484	4.95;4.84;4.85;4.85	5.95	5.95	0.96441	.	0.049048	0.85682	D	0.000000	T	0.05364	0.0142	M	0.67953	2.075	0.40764	D	0.983037	D;B;B	0.54207	0.965;0.274;0.394	P;B;B	0.47044	0.535;0.069;0.146	T	0.38436	-0.9661	10	0.40728	T	0.16	.	18.9492	0.92635	0.0:0.0:1.0:0.0	.	1438;1580;1580	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	K	1580;1580;1580;1379;1379	ENSP00000235372:R1580K;ENSP00000312352:R1580K;ENSP00000411103:R1379K;ENSP00000341621:R1379K	ENSP00000235372:R1580K	R	+	2	0	PRDM2	13981616	1.000000	0.71417	0.564000	0.28396	0.995000	0.86356	5.108000	0.64609	2.825000	0.97269	0.655000	0.94253	AGA	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot	ENSG00000116731		0.478	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	48	0.00	0	G	NM_012231		14109029	14109029	+1	no_errors	ENST00000235372	ensembl	human	known	69_37n	missense	45	23.73	14	SNP	0.996	A
PRELP	5549	genome.wustl.edu	37	1	203452475	203452475	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:203452475C>T	ENST00000343110.2	+	2	290	c.163C>T	c.(163-165)Cca>Tca	p.P55S		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	55					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCAGCAGAGCCAACAGACCT	0.647																																						dbGAP											0													97.0	83.0	87.0					1																	203452475		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.163C>T	1.37:g.203452475C>T	ENSP00000343924:p.Pro55Ser		Q6FG38	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.P55S	ENST00000343110.2	37	c.163	CCDS1438.1	1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283043	0.59867	.	.	ENSG00000188783	ENST00000343110	T	0.42900	0.96	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000012	T	0.51466	0.1676	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.53913	-0.8371	10	0.52906	T	0.07	-20.7035	16.4684	0.84092	0.0:1.0:0.0:0.0	.	55	P51888	PRELP_HUMAN	S	55	ENSP00000343924:P55S	ENSP00000343924:P55S	P	+	1	0	PRELP	201719098	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.889000	0.69766	2.222000	0.72286	0.462000	0.41574	CCA	PRELP	-	NULL	ENSG00000188783		0.647	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	HGNC	protein_coding	OTTHUMT00000087474.1	95	0.00	0	C	NM_002725		203452475	203452475	+1	no_errors	ENST00000343110	ensembl	human	known	69_37n	missense	80	16.67	16	SNP	1.000	T
PROX2	283571	genome.wustl.edu	37	14	75330485	75330485	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:75330485A>G	ENST00000445876.1	-	1	52	c.53T>C	c.(52-54)cTa>cCa	p.L18P	PROX2_ENST00000556489.2_Missense_Mutation_p.L18P|PROX2_ENST00000556084.2_Missense_Mutation_p.L18P			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	18					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGCTTCTGCTAGGTGGGAGCA	0.557																																						dbGAP											0													67.0	69.0	68.0					14																	75330485		1978	4149	6127	-	-	-	SO:0001583	missense	0				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.53T>C	14.37:g.75330485A>G	ENSP00000405932:p.Leu18Pro		C9J5W1|Q8N9Q3	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.L18P	ENST00000445876.1	37	c.53	CCDS45136.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.88|11.88	1.769466|1.769466	0.31320|0.31320	.|.	.|.	ENSG00000119608|ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876|ENST00000556084	T;T|.	0.45276|.	0.9;0.9|.	5.7|5.7	-2.62|-2.62	0.06152|0.06152	.|.	0.381334|.	0.19321|.	N|.	0.117122|.	T|.	0.36799|.	0.0980|.	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	0.999997|0.999997	B|.	0.13594|.	0.008|.	B|.	0.14023|.	0.01|.	T|.	0.40098|.	-0.9581|.	10|.	0.31617|.	T|.	0.26|.	2.7624|2.7624	6.6338|6.6338	0.22872|0.22872	0.3956:0.1514:0.453:0.0|0.3956:0.1514:0.453:0.0	.|.	18|.	G3V3G0|.	.|.	P|Q	18|18	ENSP00000451223:L18P;ENSP00000405932:L18P|.	ENSP00000374315:L18P|.	L|X	-|-	2|1	0|0	PROX2|PROX2	74400238|74400238	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.150000|0.150000	0.21749|0.21749	-0.419000|-0.419000	0.07071|0.07071	-0.446000|-0.446000	0.07149|0.07149	0.459000|0.459000	0.35465|0.35465	CTA|TAG	PROX2	-	NULL	ENSG00000119608		0.557	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROX2	HGNC	protein_coding		55	0.00	0	A			75330485	75330485	-1	no_errors	ENST00000445876	ensembl	human	known	69_37n	missense	64	20.00	16	SNP	0.000	G
PRPF40A	55660	genome.wustl.edu	37	2	153532999	153532999	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:153532999A>G	ENST00000410080.1	-	10	1492	c.951T>C	c.(949-951)agT>agC	p.S317S		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	344					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TAGCAGGGGTACTAGTAAGTT	0.383																																						dbGAP											0													82.0	77.0	79.0					2																	153532999		1885	4112	5997	-	-	-	SO:0001819	synonymous_variant	0			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.951T>C	2.37:g.153532999A>G			O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Silent	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP,prints_Antifreeze_1	p.S317	ENST00000410080.1	37	c.951	CCDS46430.1	2																																																																																			PRPF40A	-	NULL	ENSG00000196504		0.383	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2	108	0.00	0	A	XM_371575		153532999	153532999	-1	no_errors	ENST00000410080	ensembl	human	known	69_37n	silent	105	11.02	13	SNP	1.000	G
PSG2	5670	genome.wustl.edu	37	19	43570753	43570753	+	Splice_Site	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:43570753C>A	ENST00000406487.1	-	5	1063		c.e5-1			NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2						cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CTTGTAGAAGCTGTCATGGAA	0.393																																						dbGAP											0													151.0	146.0	148.0					19																	43570753		2201	4298	6499	-	-	-	SO:0001630	splice_region_variant	0				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.965-1G>T	19.37:g.43570753C>A			Q8TCD9|Q9UEA4|Q9UQ78	Splice_Site	SNP	-	e5-1	ENST00000406487.1	37	c.965-1	CCDS12616.1	19	.	.	.	.	.	.	.	.	.	.	C	2.828	-0.243219	0.05906	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942	.	.	.	0.891	0.891	0.19224	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1656	0.15084	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSG2	48262593	0.113000	0.22115	0.012000	0.15200	0.020000	0.10135	1.061000	0.30542	0.774000	0.33427	0.398000	0.26397	.	PSG2	-	-	ENSG00000242221		0.393	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG2	HGNC	protein_coding	OTTHUMT00000323083.1	240	0.00	0	C	NM_031246	Intron	43570753	43570753	-1	no_errors	ENST00000329509	ensembl	human	known	69_37n	splice_site	158	17.71	34	SNP	0.019	A
PSKH2	85481	genome.wustl.edu	37	8	87076702	87076702	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:87076702A>G	ENST00000276616.2	-	2	418	c.344T>C	c.(343-345)gTt>gCt	p.V115A	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	115	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			ACGATGGCTAACCCGCCGCAG	0.502																																						dbGAP											0													95.0	84.0	88.0					8																	87076702		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.344T>C	8.37:g.87076702A>G	ENSP00000276616:p.Val115Ala		A0AV22	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	p.V115A	ENST00000276616.2	37	c.344	CCDS6240.1	8	.	.	.	.	.	.	.	.	.	.	A	23.0	4.367313	0.82463	.	.	ENSG00000147613	ENST00000276616	T	0.40756	1.02	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.40272	0.1110	N	0.21617	0.685	0.38871	D	0.956693	P	0.42123	0.771	P	0.48334	0.574	T	0.45293	-0.9271	9	0.66056	D	0.02	.	13.7133	0.62680	1.0:0.0:0.0:0.0	.	115	Q96QS6	KPSH2_HUMAN	A	115	ENSP00000276616:V115A	ENSP00000276616:V115A	V	-	2	0	PSKH2	87145818	1.000000	0.71417	0.044000	0.18714	0.844000	0.47949	7.131000	0.77243	2.102000	0.63906	0.533000	0.62120	GTT	PSKH2	-	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	ENSG00000147613		0.502	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSKH2	HGNC	protein_coding	OTTHUMT00000374628.1	19	0.00	0	A	NM_033126		87076702	87076702	-1	no_errors	ENST00000276616	ensembl	human	known	69_37n	missense	58	35.51	76	SNP	0.992	G
PTCHD3	374308	genome.wustl.edu	37	10	27702992	27702992	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:27702992T>A	ENST00000438700.3	-	1	305	c.188A>T	c.(187-189)gAg>gTg	p.E63V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	63					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGCATCCTGCTCCGACGCCAG	0.692																																						dbGAP											0													29.0	39.0	35.0					10																	27702992		2195	4289	6484	-	-	-	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.188A>T	10.37:g.27702992T>A	ENSP00000417658:p.Glu63Val		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.E63V	ENST00000438700.3	37	c.188	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105395	0.37145	.	.	ENSG00000182077	ENST00000438700	D	0.89939	-2.59	2.21	-4.41	0.03590	.	.	.	.	.	T	0.78477	0.4289	L	0.36672	1.1	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.62234	-0.6897	9	0.72032	D	0.01	.	0.9035	0.01279	0.1593:0.3514:0.1582:0.3312	.	63	Q3KNS1	PTHD3_HUMAN	V	63	ENSP00000417658:E63V	ENSP00000417658:E63V	E	-	2	0	PTCHD3	27742998	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.292000	0.01146	-1.348000	0.02205	-0.558000	0.04189	GAG	PTCHD3	-	NULL	ENSG00000182077		0.692	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	13	0.00	0	T	XM_370541		27702992	27702992	-1	no_errors	ENST00000438700	ensembl	human	known	69_37n	missense	15	31.82	7	SNP	0.000	A
PTPRD	5789	genome.wustl.edu	37	9	8526637	8526637	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:8526637T>C	ENST00000381196.4	-	14	1101	c.558A>G	c.(556-558)acA>acG	p.T186T	PTPRD_ENST00000540109.1_Silent_p.T186T|PTPRD_ENST00000356435.5_Silent_p.T186T|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397611.3_Silent_p.T183T|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000355233.5_Silent_p.T186T|PTPRD_ENST00000486161.1_Silent_p.T186T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	186	Ig-like C2-type 2.|Interaction with IL1RAPL1. {ECO:0000250}.				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)		CTCTTATTGGTGTACCACCTG	0.403										TSP Lung(15;0.13)																												dbGAP											0													130.0	132.0	131.0					9																	8526637		1884	4105	5989	-	-	-	SO:0001819	synonymous_variant	0			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.558A>G	9.37:g.8526637T>C			B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.T186	ENST00000381196.4	37	c.558	CCDS43786.1	9																																																																																			PTPRD	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000153707		0.403	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	139	0.00	0	T			8526637	8526637	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	silent	133	13.07	20	SNP	1.000	C
PTPRG	5793	genome.wustl.edu	37	3	62240892	62240892	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:62240892T>C	ENST00000474889.1	+	16	2936		c.e16+2		PTPRG_ENST00000295874.10_Splice_Site	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G						brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GATTTTGAGGTATGTTTCAAG	0.393																																						dbGAP											0													108.0	105.0	106.0					3																	62240892		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2559+2T>C	3.37:g.62240892T>C			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Splice_Site	SNP	-	e16+2	ENST00000474889.1	37	c.2559+2	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	T	23.7	4.449097	0.84101	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7156	0.77667	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRG	62215932	1.000000	0.71417	0.989000	0.46669	0.968000	0.65278	7.616000	0.83018	2.121000	0.65114	0.528000	0.53228	.	PTPRG	-	-	ENSG00000144724		0.393	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	88	0.00	0	T	NM_002841	Intron	62240892	62240892	+1	no_errors	ENST00000474889	ensembl	human	known	69_37n	splice_site	81	21.36	22	SNP	1.000	C
PTPRT	11122	genome.wustl.edu	37	20	40790037	40790037	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:40790037C>T	ENST00000373187.1	-	17	2636	c.2637G>A	c.(2635-2637)acG>acA	p.T879T	PTPRT_ENST00000373201.1_Silent_p.T869T|PTPRT_ENST00000373184.1_Silent_p.T869T|PTPRT_ENST00000373198.4_Silent_p.T898T|PTPRT_ENST00000373190.1_Silent_p.T878T|PTPRT_ENST00000356100.2_Silent_p.T888T|PTPRT_ENST00000373193.3_Silent_p.T882T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	879					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)				TCTTCATCTGCGTGATGTGCT	0.572																																						dbGAP											0													69.0	73.0	72.0					20																	40790037		2116	4255	6371	-	-	-	SO:0001819	synonymous_variant	0			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.2637G>A	20.37:g.40790037C>T			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,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.T901	ENST00000373187.1	37	c.2703	CCDS42874.1	20																																																																																			PTPRT	-	NULL	ENSG00000196090		0.572	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	58	0.00	0	C			40790037	40790037	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	silent	87	10.31	10	SNP	0.882	T
PXDNL	137902	genome.wustl.edu	37	8	52321102	52321102	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:52321102T>C	ENST00000356297.4	-	17	3182	c.3082A>G	c.(3082-3084)Agg>Ggg	p.R1028G	PXDNL_ENST00000543296.1_Missense_Mutation_p.R1028G	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1028					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTCAGCATCCTAGTGCCAGGG	0.537																																						dbGAP											0													29.0	34.0	32.0					8																	52321102		2064	4218	6282	-	-	-	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3082A>G	8.37:g.52321102T>C	ENSP00000348645:p.Arg1028Gly		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.R1028G	ENST00000356297.4	37	c.3082	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	T	4.902	0.167610	0.09339	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.69561	-0.41;-0.41	4.2	-1.57	0.08506	.	1.073010	0.07322	N	0.877740	T	0.58850	0.2151	L	0.59436	1.845	0.25388	N	0.98856	B	0.18310	0.027	B	0.23150	0.044	T	0.50311	-0.8843	10	0.54805	T	0.06	.	4.6481	0.12582	0.0:0.1839:0.3108:0.5053	.	1028	A1KZ92	PXDNL_HUMAN	G	1028	ENSP00000348645:R1028G;ENSP00000444865:R1028G	ENSP00000348645:R1028G	R	-	1	2	PXDNL	52483655	0.996000	0.38824	0.000000	0.03702	0.000000	0.00434	0.666000	0.25097	-0.642000	0.05480	-1.089000	0.02181	AGG	PXDNL	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000147485		0.537	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	24	0.00	0	T	NM_144651		52321102	52321102	-1	no_errors	ENST00000356297	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	0.839	C
PXDNL	137902	genome.wustl.edu	37	8	52336218	52336218	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:52336218C>A	ENST00000356297.4	-	14	1812	c.1712G>T	c.(1711-1713)gGg>gTg	p.G571V	PXDNL_ENST00000543296.1_Missense_Mutation_p.G571V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	571	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTCAGGGAACCCTGCGTCGTA	0.483																																						dbGAP											0													114.0	126.0	122.0					8																	52336218		2163	4261	6424	-	-	-	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1712G>T	8.37:g.52336218C>A	ENSP00000348645:p.Gly571Val		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.G571V	ENST00000356297.4	37	c.1712	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973918	0.34848	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66995	-0.24;-0.24	4.43	2.56	0.30785	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50735	0.1633	N	0.05592	-0.015	0.18873	N	0.999985	P	0.42649	0.786	P	0.48089	0.566	T	0.37079	-0.9721	9	0.45353	T	0.12	.	5.951	0.19246	0.0:0.6958:0.1954:0.1088	.	571	A1KZ92	PXDNL_HUMAN	V	571	ENSP00000348645:G571V;ENSP00000444865:G571V	ENSP00000348645:G571V	G	-	2	0	PXDNL	52498771	0.777000	0.28628	0.000000	0.03702	0.002000	0.02628	2.421000	0.44688	0.376000	0.24707	0.650000	0.86243	GGG	PXDNL	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000147485		0.483	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	145	0.00	0	C	NM_144651		52336218	52336218	-1	no_errors	ENST00000356297	ensembl	human	known	69_37n	missense	121	20.92	32	SNP	0.018	A
QDPR	5860	genome.wustl.edu	37	4	17493943	17493943	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:17493943C>T	ENST00000281243.5	-	5	636	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	QDPR_ENST00000428702.2_Missense_Mutation_p.A122T|QDPR_ENST00000513615.1_Intron|QDPR_ENST00000508623.1_Intron	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	153					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						GCACCCTTGGCCATGCCGTAC	0.617																																						dbGAP											0													43.0	46.0	45.0					4																	17493943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.457G>A	4.37:g.17493943C>T	ENSP00000281243:p.Ala153Thr		A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR	p.A153T	ENST00000281243.5	37	c.457	CCDS3421.1	4	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269396	0.80469	.	.	ENSG00000151552	ENST00000281243;ENST00000428702	D;D	0.94723	-2.93;-3.5	5.26	5.26	0.73747	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.054392	0.64402	D	0.000001	D	0.95214	0.8448	M	0.80183	2.485	0.80722	D	1	P;P	0.48998	0.918;0.87	P;P	0.51385	0.668;0.551	D	0.93419	0.6775	10	0.19147	T	0.46	-16.8744	12.7201	0.57137	0.1647:0.8353:0.0:0.0	.	122;153	B3KW71;P09417	.;DHPR_HUMAN	T	153;122	ENSP00000281243:A153T;ENSP00000390944:A122T	ENSP00000281243:A153T	A	-	1	0	QDPR	17103041	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	4.069000	0.57541	2.448000	0.82819	0.557000	0.71058	GCC	QDPR	-	pfam_DH_sc/Rdtase_SDR	ENSG00000151552		0.617	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QDPR	HGNC	protein_coding	OTTHUMT00000250372.1	35	0.00	0	C	NM_000320		17493943	17493943	-1	no_errors	ENST00000281243	ensembl	human	known	69_37n	missense	28	25.64	10	SNP	1.000	T
QSOX1	5768	genome.wustl.edu	37	1	180165581	180165581	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:180165581C>T	ENST00000367602.3	+	12	1727	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	QSOX1_ENST00000367600.5_Silent_p.A551A			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	551					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTCAGCTGCCCGGAGGGATG	0.617																																						dbGAP											0													93.0	101.0	98.0					1																	180165581		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1653C>T	1.37:g.180165581C>T			Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold	p.A551	ENST00000367602.3	37	c.1653	CCDS1337.1	1																																																																																			QSOX1	-	NULL	ENSG00000116260		0.617	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1	46	0.00	0	C	NM_002826		180165581	180165581	+1	no_errors	ENST00000367602	ensembl	human	known	69_37n	silent	45	19.64	11	SNP	0.001	T
RAB14	51552	genome.wustl.edu	37	9	123954462	123954462	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:123954462A>G	ENST00000373840.4	-	3	330	c.93T>C	c.(91-93)ttT>ttC	p.F31F		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	31					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTTTTTCTGTAAATTGATGAA	0.303																																						dbGAP											0													148.0	150.0	149.0					9																	123954462		2202	4295	6497	-	-	-	SO:0001819	synonymous_variant	0			AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"""RAB, member RAS oncogene"""	16524	protein-coding gene	gene with protein product	"""F protein-binding protein 1"", ""bA165P4.3 (member RAS oncogene family)"", ""small GTP binding protein RAB14"""	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.93T>C	9.37:g.123954462A>G			B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F31	ENST00000373840.4	37	c.93	CCDS6827.1	9																																																																																			RAB14	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000119396		0.303	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB14	HGNC	protein_coding	OTTHUMT00000053857.1	222	0.00	0	A	NM_016322		123954462	123954462	-1	no_errors	ENST00000373840	ensembl	human	known	69_37n	silent	119	15.49	22	SNP	1.000	G
RAI2	10742	genome.wustl.edu	37	X	17819378	17819378	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:17819378C>T	ENST00000545871.1	-	3	1213	c.753G>A	c.(751-753)ccG>ccA	p.P251P	RAI2_ENST00000451717.1_Silent_p.P251P|RAI2_ENST00000415486.3_Silent_p.P201P|RAI2_ENST00000331511.1_Silent_p.P251P|RAI2_ENST00000360011.1_Silent_p.P251P	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	251	Pro-rich.				embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TCTGAGGCATCGGGATGGGGA	0.592																																						dbGAP											0													88.0	85.0	86.0					X																	17819378		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.753G>A	X.37:g.17819378C>T			B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Silent	SNP	NULL	p.P251	ENST00000545871.1	37	c.753	CCDS14183.1	X																																																																																			RAI2	-	NULL	ENSG00000131831		0.592	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI2	HGNC	protein_coding	OTTHUMT00000055937.1	145	0.00	0	C	NM_021785		17819378	17819378	-1	no_errors	ENST00000331511	ensembl	human	known	69_37n	silent	118	17.48	25	SNP	0.003	T
RAB40AL	282808	genome.wustl.edu	37	X	102192925	102192925	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:102192925A>G	ENST00000218249.5	+	1	726	c.679A>G	c.(679-681)Atg>Gtg	p.M227V	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	227	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GTCCTTCTCCATGGCTAAGGG	0.572																																						dbGAP											0													149.0	127.0	134.0					X																	102192925		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.679A>G	X.37:g.102192925A>G	ENSP00000218249:p.Met227Val		Q495H3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.M227V	ENST00000218249.5	37	c.679	CCDS35353.1	X	.	.	.	.	.	.	.	.	.	.	.	15.36	2.811498	0.50527	.	.	ENSG00000102128	ENST00000218249	T	0.70631	-0.5	0.819	0.819	0.18785	SOCS protein, C-terminal (1);	0.000000	0.53938	U	0.000056	T	0.60753	0.2293	L	0.59436	1.845	0.51482	D	0.99992	B	0.09022	0.002	B	0.12837	0.008	T	0.58126	-0.7691	10	0.72032	D	0.01	.	5.6153	0.17428	0.9999:0.0:1.0E-4:0.0	.	227	P0C0E4	RB40L_HUMAN	V	227	ENSP00000218249:M227V	ENSP00000218249:M227V	M	+	1	0	RAB40AL	102079581	1.000000	0.71417	0.988000	0.46212	0.906000	0.53458	3.517000	0.53443	0.563000	0.29222	0.376000	0.23039	ATG	RAB40AL	-	pfscan_SOCS_C	ENSG00000102128		0.572	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40AL	HGNC	protein_coding	OTTHUMT00000057679.1	166	0.00	0	A	NM_001031834		102192925	102192925	+1	no_errors	ENST00000218249	ensembl	human	known	69_37n	missense	123	15.75	23	SNP	1.000	G
RALGAPA2	57186	genome.wustl.edu	37	20	20582459	20582459	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:20582459G>A	ENST00000202677.7	-	16	2077	c.2070C>T	c.(2068-2070)acC>acT	p.T690T	RALGAPA2_ENST00000495793.1_5'UTR	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	690					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ACCTCCCCACGGTGGTTCCTT	0.483																																						dbGAP											0													34.0	34.0	34.0					20																	20582459		1851	4095	5946	-	-	-	SO:0001819	synonymous_variant	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2070C>T	20.37:g.20582459G>A			Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.P507L	ENST00000202677.7	37	c.1520	CCDS46584.1	20	.	.	.	.	.	.	.	.	.	.	G	0.450	-0.894225	0.02491	.	.	ENSG00000188559	ENST00000430436	.	.	.	4.99	-6.6	0.01824	.	.	.	.	.	T	0.46946	0.1419	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50617	-0.8807	4	.	.	.	.	6.6206	0.22800	0.3618:0.0:0.3921:0.2462	.	.	.	.	L	507	.	.	P	-	2	0	RALGAPA2	20530459	0.039000	0.19947	0.068000	0.19968	0.192000	0.23643	-0.498000	0.06420	-0.944000	0.03686	-1.708000	0.00717	CCG	RALGAPA2	-	NULL	ENSG00000188559		0.483	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	38	0.00	0	G	NM_020343		20582459	20582459	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000430436	ensembl	human	known	69_37n	missense	34	22.73	10	SNP	0.017	A
RALY	22913	genome.wustl.edu	37	20	32660049	32660049	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:32660049T>C	ENST00000246194.3	+	3	671	c.169T>C	c.(169-171)Tat>Cat	p.Y57H	RALY_ENST00000493399.1_Intron|RALY_ENST00000375114.3_Missense_Mutation_p.Y57H	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	57	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCACAAGGGCTATGCCTTTGT	0.562																																						dbGAP											0													87.0	85.0	86.0					20																	32660049		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.169T>C	20.37:g.32660049T>C	ENSP00000246194:p.Tyr57His		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.Y57H	ENST00000246194.3	37	c.169	CCDS13230.1	20	.	.	.	.	.	.	.	.	.	.	T	26.3	4.722995	0.89298	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000413297;ENST00000442805	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.81614	2.55	0.80722	D	1	D;P	0.89917	1.0;0.877	D;P	0.78314	0.991;0.739	T	0.48559	-0.9025	10	0.87932	D	0	-9.662	15.6711	0.77274	0.0:0.0:0.0:1.0	.	57;57	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	H	57	ENSP00000364255:Y57H;ENSP00000413638:Y57H;ENSP00000246194:Y57H;ENSP00000403744:Y57H;ENSP00000415973:Y57H	ENSP00000246194:Y57H	Y	+	1	0	RALY	32123710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.781000	0.85668	2.285000	0.76669	0.477000	0.44152	TAT	RALY	-	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	ENSG00000125970		0.562	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALY	HGNC	protein_coding	OTTHUMT00000078753.1	58	0.00	0	T			32660049	32660049	+1	no_errors	ENST00000246194	ensembl	human	known	69_37n	missense	60	18.92	14	SNP	1.000	C
RASGRF1	5923	genome.wustl.edu	37	15	79310205	79310205	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:79310205G>A	ENST00000419573.3	-	12	1924	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.I550I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	550	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTCCACCCCGATTTTAAAAT	0.502																																						dbGAP											0													121.0	111.0	114.0					15																	79310205		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1650C>T	15.37:g.79310205G>A			F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.I550	ENST00000419573.3	37	c.1650	CCDS10309.1	15																																																																																			RASGRF1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000058335		0.502	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	127	0.00	0	G	NM_002891		79310205	79310205	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	silent	103	15.57	19	SNP	0.430	A
RB1	5925	genome.wustl.edu	37	13	48936996	48936996	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:48936996G>A	ENST00000267163.4	+	8	902	c.764G>A	c.(763-765)cGa>cAa	p.R255Q		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	255					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACACCCAGGCGAGGTCAGAAC	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	21	Whole gene deletion(15)|Unknown(6)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											109.0	112.0	111.0					13																	48936996		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.764G>A	13.37:g.48936996G>A	ENSP00000267163:p.Arg255Gln		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.R255Q	ENST00000267163.4	37	c.764	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429997	0.83776	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.92099	-2.97	6.03	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.94771	0.8312	M	0.65975	2.015	0.48087	D	0.999589	D	0.89917	1.0	D	0.69307	0.963	D	0.93882	0.7172	10	0.35671	T	0.21	.	14.1218	0.65192	0.0729:0.0:0.9271:0.0	.	255	P06400	RB_HUMAN	Q	234;255	ENSP00000267163:R255Q	ENSP00000267163:R255Q	R	+	2	0	RB1	47834997	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	6.281000	0.72632	1.541000	0.49316	0.655000	0.94253	CGA	RB1	-	NULL	ENSG00000139687		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	131	0.00	0	G			48936996	48936996	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	missense	183	12.44	26	SNP	1.000	A
RBKS	64080	genome.wustl.edu	37	2	28066017	28066017	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:28066017C>T	ENST00000302188.3	-	5	1183	c.431G>A	c.(430-432)aGc>aAc	p.S144N	RBKS_ENST00000444339.2_Missense_Mutation_p.S144N	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	144					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TTTGGCTCTGCTAATGACATT	0.443																																						dbGAP											0													95.0	94.0	94.0					2																	28066017		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.431G>A	2.37:g.28066017C>T	ENSP00000306817:p.Ser144Asn		A9UK04|B4DV96	Missense_Mutation	SNP	pfam_PfkB,pfam_HMP-P_kinase-1,prints_Ribokinase,tigrfam_D_ribokin_bac	p.S144N	ENST00000302188.3	37	c.431	CCDS1762.1	2	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237904	0.39598	.	.	ENSG00000171174	ENST00000302188;ENST00000444339	T;T	0.76316	-1.01;-1.01	5.86	4.99	0.66335	Carbohydrate/purine kinase (1);	0.241384	0.53938	N	0.000043	T	0.67850	0.2937	L	0.41710	1.295	0.38962	D	0.958573	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.63686	-0.6581	10	0.22706	T	0.39	-9.7749	11.7018	0.51575	0.0:0.8095:0.1238:0.0667	.	144;144	B4DV96;Q9H477	.;RBSK_HUMAN	N	144	ENSP00000306817:S144N;ENSP00000413232:S144N	ENSP00000306817:S144N	S	-	2	0	RBKS	27919521	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	1.433000	0.34947	1.623000	0.50342	0.650000	0.86243	AGC	RBKS	-	pfam_PfkB,tigrfam_D_ribokin_bac	ENSG00000171174		0.443	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBKS	HGNC	protein_coding	OTTHUMT00000215118.1	76	0.00	0	C	NM_022128		28066017	28066017	-1	no_errors	ENST00000302188	ensembl	human	known	69_37n	missense	86	17.14	18	SNP	1.000	T
RC3H1	149041	genome.wustl.edu	37	1	173916576	173916576	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:173916576A>G	ENST00000367696.2	-	15	3019	c.2668T>C	c.(2668-2670)Tat>Cat	p.Y890H	RC3H1_ENST00000258349.4_Missense_Mutation_p.Y890H|RC3H1_ENST00000367694.2_Missense_Mutation_p.Y890H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	890					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y890H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCACCCTGATATATAGTTTTG	0.468																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											131.0	132.0	132.0					1																	173916576		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2668T>C	1.37:g.173916576A>G	ENSP00000356669:p.Tyr890His		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.Y890H	ENST00000367696.2	37	c.2668	CCDS30940.1	1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497455	0.85069	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.56941	0.44;0.44;0.43	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	L	0.55481	1.735	0.58432	D	0.999991	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	P;P;D;P	0.67548	0.897;0.897;0.952;0.897	T	0.65809	-0.6078	10	0.87932	D	0	-12.4113	16.0129	0.80417	1.0:0.0:0.0:0.0	.	890;890;890;890	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	H	890	ENSP00000356669:Y890H;ENSP00000258349:Y890H;ENSP00000356667:Y890H	ENSP00000258349:Y890H	Y	-	1	0	RC3H1	172183199	1.000000	0.71417	0.927000	0.36925	0.844000	0.47949	8.962000	0.93254	2.184000	0.69523	0.482000	0.46254	TAT	RC3H1	-	NULL	ENSG00000135870		0.468	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2	171	0.00	0	A	NM_172071		173916576	173916576	-1	no_errors	ENST00000258349	ensembl	human	known	69_37n	missense	236	10.27	27	SNP	0.998	G
RCBTB2	1102	genome.wustl.edu	37	13	49089817	49089817	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:49089817delA	ENST00000344532.3	-	5	526	c.103delT	c.(103-105)tccfs	p.S35fs	RCBTB2_ENST00000430805.2_Frame_Shift_Del_p.S40fs|RCBTB2_ENST00000544904.1_Frame_Shift_Del_p.S11fs|RCBTB2_ENST00000544492.1_5'UTR|RCBTB2_ENST00000481144.1_5'UTR	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	35					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GAACAAAGGGAAAAAATTGGC	0.358																																						dbGAP											0													82.0	86.0	85.0					13																	49089817		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.103delT	13.37:g.49089817delA	ENSP00000345144:p.Ser35fs		B2RDW8	Frame_Shift_Del	DEL	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S40fs	ENST00000344532.3	37	c.118	CCDS9411.1	13																																																																																			RCBTB2	-	NULL	ENSG00000136161		0.358	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB2	HGNC	protein_coding	OTTHUMT00000044888.2	67	0.00	0	A	NM_001268		49089817	49089817	-1	no_errors	ENST00000430805	ensembl	human	known	69_37n	frame_shift_del	65	14.10	11	DEL	1.000	-
RECK	8434	genome.wustl.edu	37	9	36100533	36100533	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:36100533A>G	ENST00000377966.3	+	11	1857	c.1291A>G	c.(1291-1293)Att>Gtt	p.I431V		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	431					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GGGAAGTATTATTTGCAAGTA	0.408																																						dbGAP											0													87.0	90.0	89.0					9																	36100533		2203	4300	6503	-	-	-	SO:0001583	missense	0			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1291A>G	9.37:g.36100533A>G	ENSP00000367202:p.Ile431Val		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Prot_inh_PMP,smart_Prot_inh_Kazal	p.I431V	ENST00000377966.3	37	c.1291	CCDS6597.1	9	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351199	0.82132	.	.	ENSG00000122707	ENST00000377966	T	0.57595	0.39	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	M	0.72894	2.215	0.47037	D	0.999293	D;D	0.64830	0.994;0.994	D;D	0.76071	0.987;0.987	T	0.74034	-0.3794	10	0.87932	D	0	-14.9939	13.0149	0.58751	1.0:0.0:0.0:0.0	.	431;431	A8K9D8;O95980	.;RECK_HUMAN	V	431	ENSP00000367202:I431V	ENSP00000367202:I431V	I	+	1	0	RECK	36090533	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.172000	0.77604	2.021000	0.59480	0.533000	0.62120	ATT	RECK	-	NULL	ENSG00000122707		0.408	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1	138	0.00	0	A			36100533	36100533	+1	no_errors	ENST00000377966	ensembl	human	known	69_37n	missense	93	16.22	18	SNP	1.000	G
RELB	5971	genome.wustl.edu	37	19	45535999	45535999	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:45535999G>A	ENST00000221452.8	+	9	1349	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	RELB_ENST00000540120.1_Missense_Mutation_p.R400H|RELB_ENST00000505236.1_Missense_Mutation_p.R397H	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	400	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TACCTGCCTCGCGACCATGGT	0.602																																						dbGAP											0													26.0	28.0	27.0					19																	45535999		2044	4195	6239	-	-	-	SO:0001583	missense	0			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1199G>A	19.37:g.45535999G>A	ENSP00000221452:p.Arg400His		Q6GTX7|Q9UEI7	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.R400H	ENST00000221452.8	37	c.1199	CCDS46110.1	19	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761413	0.49468	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.41758	0.99;0.99;0.99	5.15	4.07	0.47477	.	0.392883	0.23622	N	0.046224	T	0.33206	0.0855	L	0.46741	1.465	0.37163	D	0.902696	B	0.26635	0.155	B	0.12156	0.007	T	0.35549	-0.9784	10	0.49607	T	0.09	-6.1019	9.9572	0.41675	0.0:0.0:0.7836:0.2164	.	397	D6R992	.	H	400;400;397	ENSP00000221452:R400H;ENSP00000445542:R400H;ENSP00000423287:R397H	ENSP00000221452:R400H	R	+	2	0	RELB	50227839	0.001000	0.12720	1.000000	0.80357	0.997000	0.91878	0.903000	0.28475	2.675000	0.91044	0.655000	0.94253	CGC	RELB	-	superfamily_Ig_E-set,prints_NF_Rel_dor	ENSG00000104856		0.602	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	73	0.00	0	G			45535999	45535999	+1	no_errors	ENST00000221452	ensembl	human	known	69_37n	missense	43	10.42	5	SNP	0.992	A
RLF	6018	genome.wustl.edu	37	1	40701830	40701830	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:40701830G>T	ENST00000372771.4	+	8	1483	c.1456G>T	c.(1456-1458)Gaa>Taa	p.E486*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	486					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTTAGGACAAGAAGCCTCAGA	0.393																																						dbGAP											0													60.0	61.0	61.0					1																	40701830		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1456G>T	1.37:g.40701830G>T	ENSP00000361857:p.Glu486*		Q14CQ1|Q9NU60	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E486*	ENST00000372771.4	37	c.1456	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401469	0.83120	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	.	.	.	6.07	6.07	0.98685	.	0.484263	0.25738	N	0.028628	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-14.1831	16.8564	0.86007	0.0:0.1281:0.8719:0.0	.	.	.	.	X	486;179	.	ENSP00000361857:E486X	E	+	1	0	RLF	40474417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.835000	0.55805	2.885000	0.99019	0.655000	0.94253	GAA	RLF	-	NULL	ENSG00000117000		0.393	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	34	0.00	0	G	NM_012421		40701830	40701830	+1	no_errors	ENST00000372771	ensembl	human	known	69_37n	nonsense	23	14.29	4	SNP	1.000	T
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037835	10037835	+	RNA	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrY:10037835T>C	ENST00000515896.1	+	0	72									RNA, 5.8S ribosomal pseudogene 6																		TTAATGTGAATTGCAGGACAC	0.517																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037835T>C				RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.517	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		31	0.00	0	T			10037835	10037835	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	24	14.29	4	SNP	1.000	C
RNASE7	84659	genome.wustl.edu	37	14	21511522	21511522	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:21511522A>T	ENST00000298690.4	+	2	628	c.371A>T	c.(370-372)aAg>aTg	p.K124M	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	124					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TACAAAGAGAAGCGACAGAAC	0.517																																						dbGAP											0													135.0	131.0	132.0					14																	21511522		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"""Ribonucleases, RNase A"""	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.371A>T	14.37:g.21511522A>T	ENSP00000298690:p.Lys124Met		P80927|P83685|Q546N3	Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.K124M	ENST00000298690.4	37	c.371	CCDS41914.1	14	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548227	0.65311	.	.	ENSG00000165799	ENST00000298690	T	0.73681	-0.77	5.19	-0.0823	0.13698	Ribonuclease A, domain (4);	1.295640	0.05878	U	0.626035	T	0.77592	0.4153	L	0.53249	1.67	0.09310	N	1	P	0.39520	0.676	P	0.52598	0.703	T	0.64850	-0.6310	10	0.72032	D	0.01	-0.7601	4.5841	0.12273	0.4648:0.3532:0.1821:0.0	.	124	Q9H1E1	RNAS7_HUMAN	M	124	ENSP00000298690:K124M	ENSP00000298690:K124M	K	+	2	0	RNASE7	20581362	0.001000	0.12720	0.013000	0.15412	0.437000	0.31866	-0.306000	0.08178	0.094000	0.17404	0.533000	0.62120	AAG	RNASE7	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	ENSG00000165799		0.517	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE7	HGNC	protein_coding	OTTHUMT00000313936.1	80	0.00	0	A	NM_032572		21511522	21511522	+1	no_errors	ENST00000298690	ensembl	human	known	69_37n	missense	88	15.38	16	SNP	0.002	T
RNF128	79589	genome.wustl.edu	37	X	105970597	105970597	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:105970597C>T	ENST00000255499.2	+	1	704	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	152	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CCCCGGGACCCGCAATGAGGT	0.572																																						dbGAP											0													50.0	48.0	49.0					X																	105970597		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.454C>T	X.37:g.105970597C>T	ENSP00000255499:p.Arg152Cys		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R152C	ENST00000255499.2	37	c.454	CCDS14521.1	X	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118642	0.37436	.	.	ENSG00000133135	ENST00000255499	T	0.06687	3.27	4.53	3.66	0.41972	Protease-associated domain, PA (1);	0.409077	0.26463	N	0.024221	T	0.09113	0.0225	N	0.22421	0.69	0.38252	D	0.941639	D	0.53312	0.959	P	0.51229	0.663	T	0.20009	-1.0288	10	0.62326	D	0.03	.	7.3796	0.26847	0.19:0.6291:0.1808:0.0	.	152	Q8TEB7	RN128_HUMAN	C	152	ENSP00000255499:R152C	ENSP00000255499:R152C	R	+	1	0	RNF128	105857253	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	2.544000	0.45761	0.843000	0.35070	-0.237000	0.12165	CGC	RNF128	-	pfam_Protease-assoc_domain	ENSG00000133135		0.572	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF128	HGNC	protein_coding	OTTHUMT00000057804.1	20	0.00	0	C	NM_024539		105970597	105970597	+1	no_errors	ENST00000255499	ensembl	human	known	69_37n	missense	13	26.32	5	SNP	1.000	T
RNF20	56254	genome.wustl.edu	37	9	104314716	104314716	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:104314716G>T	ENST00000389120.3	+	13	1672	c.1582G>T	c.(1582-1584)Gac>Tac	p.D528Y	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	528					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TAGTACTGAGGACCCGAAGGA	0.488																																						dbGAP											0													141.0	155.0	150.0					9																	104314716		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1582G>T	9.37:g.104314716G>T	ENSP00000373772:p.Asp528Tyr		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.D528Y	ENST00000389120.3	37	c.1582	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814236	0.50527	.	.	ENSG00000155827	ENST00000389120	T	0.33654	1.4	6.17	6.17	0.99709	.	0.173589	0.64402	D	0.000008	T	0.46386	0.1390	L	0.43152	1.355	0.80722	D	1	D	0.54047	0.964	P	0.50791	0.65	T	0.29366	-1.0014	10	0.66056	D	0.02	-29.151	20.4745	0.99168	0.0:0.0:1.0:0.0	.	528	Q5VTR2	BRE1A_HUMAN	Y	528	ENSP00000373772:D528Y	ENSP00000373772:D528Y	D	+	1	0	RNF20	103354537	1.000000	0.71417	0.998000	0.56505	0.369000	0.29798	8.912000	0.92726	2.941000	0.99782	0.655000	0.94253	GAC	RNF20	-	NULL	ENSG00000155827		0.488	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	56	0.00	0	G	NM_019592		104314716	104314716	+1	no_errors	ENST00000389120	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	1.000	T
RNF43	54894	genome.wustl.edu	37	17	56492758	56492758	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:56492758G>T	ENST00000584437.1	-	1	2136	c.181C>A	c.(181-183)Ctg>Atg	p.L61M	RNF43_ENST00000580014.1_5'Flank|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.L61M|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Missense_Mutation_p.L61M|RNF43_ENST00000407977.2_Missense_Mutation_p.L61M|RNF43_ENST00000583753.1_Missense_Mutation_p.L61M			Q68DV7	RNF43_HUMAN	ring finger protein 43	61					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGAGATTCAGTTTTCCTGTG	0.423																																						dbGAP											0													89.0	86.0	87.0					17																	56492758		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.181C>A	17.37:g.56492758G>T	ENSP00000463069:p.Leu61Met		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L61M	ENST00000584437.1	37	c.181	CCDS11607.1	17	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548948	0.45383	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.15017	3.09;2.46	5.27	2.89	0.33648	.	0.494670	0.17150	N	0.185100	T	0.15696	0.0378	N	0.08118	0	0.30035	N	0.813168	D;D	0.76494	0.999;0.996	D;P	0.67548	0.952;0.862	T	0.04825	-1.0924	10	0.42905	T	0.14	-8.4918	3.994	0.09549	0.239:0.1906:0.5705:0.0	.	61;61	Q68DV7-2;Q68DV7	.;RNF43_HUMAN	M	61	ENSP00000385328:L61M;ENSP00000441969:L61M	ENSP00000385328:L61M	L	-	1	2	RNF43	53847757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.073000	0.30691	1.350000	0.45770	0.655000	0.94253	CTG	RNF43	-	NULL	ENSG00000108375		0.423	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	133	0.00	0	G	NM_017763		56492758	56492758	-1	no_errors	ENST00000407977	ensembl	human	known	69_37n	missense	175	32.69	85	SNP	1.000	T
ROBO3	64221	genome.wustl.edu	37	11	124748247	124748247	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:124748247C>G	ENST00000397801.1	+	22	3427	c.3235C>G	c.(3235-3237)Ctg>Gtg	p.L1079V	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Intron|ROBO3_ENST00000538940.1_Missense_Mutation_p.L1057V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1079					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GATGCCCTCTCTGAACTGGCC	0.597																																						dbGAP											0													44.0	55.0	52.0					11																	124748247		1900	4138	6038	-	-	-	SO:0001583	missense	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3235C>G	11.37:g.124748247C>G	ENSP00000380903:p.Leu1079Val			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L1079V	ENST00000397801.1	37	c.3235	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383556	0.42207	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.67345	-0.26;-0.24	5.44	4.52	0.55395	.	0.000000	0.32444	N	0.006092	T	0.72977	0.3528	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.68895	-0.5288	10	0.18710	T	0.47	.	9.0067	0.36115	0.0:0.7713:0.1477:0.0809	.	1079	Q96MS0	ROBO3_HUMAN	V	1079;1057	ENSP00000380903:L1079V;ENSP00000441797:L1057V	ENSP00000380903:L1079V	L	+	1	2	ROBO3	124253457	0.958000	0.32768	0.826000	0.32828	0.149000	0.21700	1.923000	0.40055	1.274000	0.44362	0.650000	0.86243	CTG	ROBO3	-	NULL	ENSG00000154134		0.597	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	58	0.00	0	C	XM_370663		124748247	124748247	+1	no_errors	ENST00000397801	ensembl	human	known	69_37n	missense	18	73.91	51	SNP	1.000	G
RP1	6101	genome.wustl.edu	37	8	55537811	55537811	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:55537811G>T	ENST00000220676.1	+	4	1517	c.1369G>T	c.(1369-1371)Gtg>Ttg	p.V457L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	457					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTAAGAAGAGTGAGACAAAA	0.418																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											0													73.0	74.0	73.0					8																	55537811		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1369G>T	8.37:g.55537811G>T	ENSP00000220676:p.Val457Leu			Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.V457L	ENST00000220676.1	37	c.1369	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221683	0.39300	.	.	ENSG00000104237	ENST00000220676	T	0.39056	1.1	5.29	-0.991	0.10235	.	0.764210	0.11906	N	0.518105	T	0.27063	0.0663	L	0.29908	0.895	0.09310	N	0.999999	B	0.18461	0.028	B	0.15052	0.012	T	0.21245	-1.0251	10	0.66056	D	0.02	.	6.2108	0.20628	0.3514:0.1192:0.5294:0.0	.	457	P56715	RP1_HUMAN	L	457	ENSP00000220676:V457L	ENSP00000220676:V457L	V	+	1	0	RP1	55700364	0.900000	0.30661	0.780000	0.31762	0.979000	0.70002	0.580000	0.23803	-0.274000	0.09232	0.655000	0.94253	GTG	RP1	-	NULL	ENSG00000104237		0.418	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	36	0.00	0	G	NM_006269		55537811	55537811	+1	no_errors	ENST00000220676	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	0.418	T
RPL22	6146	genome.wustl.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																	dbGAP		Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Deletion - Frameshift(1)	large_intestine(1)											62.0	55.0	57.0					1																	6257785		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs		B2R495|Q6IBD1	Frame_Shift_Del	DEL	pfam_Ribosomal_L22e	p.K15fs	ENST00000234875.4	37	c.44	CCDS58.1	1																																																																																			RPL22	-	pfam_Ribosomal_L22e	ENSG00000116251		0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL22	HGNC	protein_coding	OTTHUMT00000002830.1	75	0.00	0	T	NM_000983		6257785	6257785	-1	no_errors	ENST00000234875	ensembl	human	known	69_37n	frame_shift_del	52	14.75	9	DEL	1.000	-
RYR3	6263	genome.wustl.edu	37	15	34102731	34102731	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:34102731T>C	ENST00000389232.4	+	71	10148	c.10078T>C	c.(10078-10080)Tat>Cat	p.Y3360H	RYR3_ENST00000415757.3_Missense_Mutation_p.Y3355H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3360					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGAGACTTGTATTCCATCCA	0.517																																						dbGAP											0													71.0	96.0	88.0					15																	34102731		1946	4128	6074	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10078T>C	15.37:g.34102731T>C	ENSP00000373884:p.Tyr3360His		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.Y3360H	ENST00000389232.4	37	c.10078	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996076	0.74703	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.66638	-0.22	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.80160	0.4572	M	0.71581	2.175	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.79729	-0.1681	10	0.38643	T	0.18	.	15.1385	0.72590	0.0:0.0:0.0:1.0	.	3355;3360	Q15413-2;Q15413	.;RYR3_HUMAN	H	3360;3360;3355	ENSP00000373884:Y3360H	ENSP00000354735:Y3355H	Y	+	1	0	RYR3	31890023	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.868000	0.87116	2.155000	0.67459	0.459000	0.35465	TAT	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	59	0.00	0	T			34102731	34102731	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	40	25.45	14	SNP	1.000	C
S100B	6285	genome.wustl.edu	37	21	48022227	48022227	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr21:48022227C>A	ENST00000291700.4	-	2	298	c.102G>T	c.(100-102)aaG>aaT	p.K34N	S100B_ENST00000367071.4_Missense_Mutation_p.K34N|S100B_ENST00000397648.1_Missense_Mutation_p.K34N	NM_006272.2	NP_006263.1	P04271	S100B_HUMAN	S100 calcium binding protein B	34	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				astrocyte differentiation (GO:0048708)|axonogenesis (GO:0007409)|cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|regulation of neuronal synaptic plasticity (GO:0048168)|response to glucocorticoid (GO:0051384)|response to methylmercury (GO:0051597)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|S100 protein binding (GO:0044548)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5	Breast(49;0.247)	Lung NSC(3;0.245)		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)	Olopatadine(DB00768)	TGATGAGCTCCTTCAGTTCGG	0.458																																						dbGAP											0													145.0	119.0	128.0					21																	48022227		2203	4300	6503	-	-	-	SO:0001583	missense	0			M59488	CCDS13736.1	21q22.3	2013-01-10	2006-09-11		ENSG00000160307	ENSG00000160307		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10500	protein-coding gene	gene with protein product		176990	"""S100 calcium binding protein, beta (neural)"""			2394738, 1998503	Standard	NM_006272		Approved	S100beta	uc002zju.1	P04271	OTTHUMG00000090715	ENST00000291700.4:c.102G>T	21.37:g.48022227C>A	ENSP00000291700:p.Lys34Asn		D3DSN6	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K34N	ENST00000291700.4	37	c.102	CCDS13736.1	21	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331356	0.41297	.	.	ENSG00000160307	ENST00000291700;ENST00000367071;ENST00000397648	T;T;T	0.28454	1.61;1.61;1.61	5.48	2.67	0.31697	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.103357	0.64402	D	0.000004	T	0.52933	0.1765	.	.	.	0.52501	D	0.999959	D;D	0.89917	1.0;0.996	D;D	0.75484	0.986;0.96	T	0.56956	-0.7893	9	0.87932	D	0	-0.4126	10.9909	0.47549	0.0:0.7845:0.0:0.2155	.	34;34	A8MRB1;P04271	.;S100B_HUMAN	N	34	ENSP00000291700:K34N;ENSP00000356038:K34N;ENSP00000380769:K34N	ENSP00000291700:K34N	K	-	3	2	S100B	46846655	0.999000	0.42202	0.999000	0.59377	0.060000	0.15804	0.630000	0.24553	0.820000	0.34516	-0.136000	0.14681	AAG	S100B	-	pfam_S100_Ca-bd_sub	ENSG00000160307		0.458	S100B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100B	HGNC	protein_coding	OTTHUMT00000207427.1	134	0.00	0	C	NM_006272		48022227	48022227	-1	no_errors	ENST00000291700	ensembl	human	known	69_37n	missense	99	22.05	28	SNP	1.000	A
SACS	26278	genome.wustl.edu	37	13	23915510	23915510	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:23915510C>G	ENST00000382292.3	-	9	2778	c.2505G>C	c.(2503-2505)caG>caC	p.Q835H	SACS_ENST00000402364.1_Missense_Mutation_p.Q85H|SACS_ENST00000382298.3_Missense_Mutation_p.Q835H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	835					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTCTGGAAGCTGTGCTTCAG	0.358																																						dbGAP											0													84.0	87.0	86.0					13																	23915510		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2505G>C	13.37:g.23915510C>G	ENSP00000371729:p.Gln835His		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.Q835H	ENST00000382292.3	37	c.2505	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554431	0.45487	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87729	-2.14;-2.29;-2.14	6.05	4.27	0.50696	.	0.277726	0.36628	N	0.002487	D	0.83991	0.5374	L	0.57536	1.79	0.29727	N	0.838167	P	0.45594	0.862	B	0.40165	0.321	T	0.80647	-0.1289	10	0.56958	D	0.05	.	11.6918	0.51521	0.0:0.8518:0.0:0.1482	.	835	Q9NZJ4	SACS_HUMAN	H	835;85;835	ENSP00000371729:Q835H;ENSP00000385844:Q85H;ENSP00000371735:Q835H	ENSP00000371729:Q835H	Q	-	3	2	SACS	22813510	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.355000	0.20163	0.830000	0.34757	0.650000	0.86243	CAG	SACS	-	NULL	ENSG00000151835		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	120	0.00	0	C	NM_014363		23915510	23915510	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	92	20.00	23	SNP	1.000	G
SALL3	27164	genome.wustl.edu	37	18	76753358	76753358	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr18:76753358G>A	ENST00000537592.2	+	2	1367	c.1367G>A	c.(1366-1368)cGc>cAc	p.R456H	SALL3_ENST00000536229.3_Missense_Mutation_p.R323H|SALL3_ENST00000575389.2_Missense_Mutation_p.R456H	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	456					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCGGGAACCGCTTCTCCACC	0.617																																						dbGAP											0													44.0	35.0	38.0					18																	76753358		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1367G>A	18.37:g.76753358G>A	ENSP00000441823:p.Arg456His		Q9UGH1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R456H	ENST00000537592.2	37	c.1367	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396535	0.42512	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.53640	0.61	4.63	4.63	0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000027	T	0.64461	0.2600	L	0.50993	1.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.67875	-0.5557	10	0.72032	D	0.01	-57.0456	17.705	0.88306	0.0:0.0:1.0:0.0	.	188;456	F5GXY4;Q9BXA9	.;SALL3_HUMAN	H	456;456;188	ENSP00000441823:R456H	ENSP00000299466:R456H	R	+	2	0	SALL3	74854346	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.575000	0.98187	2.400000	0.81607	0.460000	0.39030	CGC	SALL3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256463		0.617	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	HGNC	protein_coding	OTTHUMT00000256397.1	16	0.00	0	G	NM_171999		76753358	76753358	+1	no_errors	ENST00000537592	ensembl	human	known	69_37n	missense	11	56.00	14	SNP	1.000	A
SAP30	8819	genome.wustl.edu	37	4	174295094	174295094	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:174295094A>T	ENST00000296504.3	+	3	686	c.446A>T	c.(445-447)gAt>gTt	p.D149V		NM_003864.3	NP_003855.1			Sin3A-associated protein, 30kDa											large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		TTCTAGGTTGATTTATACCAA	0.279																																						dbGAP											0													73.0	78.0	76.0					4																	174295094		2202	4294	6496	-	-	-	SO:0001583	missense	0			AF055993	CCDS3817.1	4q34.1	2008-02-05	2006-02-02		ENSG00000164105	ENSG00000164105			10532	protein-coding gene	gene with protein product		603378	"""sin3A-associated protein, 30kDa"""			9651585	Standard	NM_003864		Approved		uc003itd.3	O75446	OTTHUMG00000160798	ENST00000296504.3:c.446A>T	4.37:g.174295094A>T	ENSP00000296504:p.Asp149Val			Missense_Mutation	SNP	NULL	p.D149V	ENST00000296504.3	37	c.446	CCDS3817.1	4	.	.	.	.	.	.	.	.	.	.	A	15.40	2.821469	0.50633	.	.	ENSG00000164105	ENST00000296504	.	.	.	4.79	4.79	0.61399	.	0.256724	0.32372	N	0.006185	T	0.76737	0.4029	M	0.69358	2.11	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.79764	-0.1666	9	0.72032	D	0.01	-14.6585	14.6213	0.68588	1.0:0.0:0.0:0.0	.	149	O75446	SAP30_HUMAN	V	149	.	ENSP00000296504:D149V	D	+	2	0	SAP30	174531669	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.756000	0.91651	1.921000	0.55644	0.383000	0.25322	GAT	SAP30	-	NULL	ENSG00000164105		0.279	SAP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP30	HGNC	protein_coding	OTTHUMT00000362360.1	98	0.00	0	A	NM_003864		174295094	174295094	+1	no_errors	ENST00000296504	ensembl	human	known	69_37n	missense	48	25.00	16	SNP	1.000	T
SCAMP2	10066	genome.wustl.edu	37	15	75143800	75143800	+	Silent	SNP	A	A	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:75143800A>C	ENST00000268099.9	-	5	475	c.366T>G	c.(364-366)ccT>ccG	p.P122P		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	122					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						ACGAGGGCAGAGGGGGCCAGT	0.557																																						dbGAP											0													75.0	77.0	77.0					15																	75143800		2197	4295	6492	-	-	-	SO:0001819	synonymous_variant	0			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.366T>G	15.37:g.75143800A>C			B2RDF0|Q9BQE8	Silent	SNP	pfam_SCAMP	p.P122	ENST00000268099.9	37	c.366	CCDS10271.1	15																																																																																			SCAMP2	-	pfam_SCAMP	ENSG00000140497		0.557	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP2	HGNC	protein_coding	OTTHUMT00000286403.3	65	0.00	0	A	NM_005697		75143800	75143800	-1	no_errors	ENST00000268099	ensembl	human	known	69_37n	silent	55	20.29	14	SNP	0.001	C
SCEL	8796	genome.wustl.edu	37	13	78202091	78202091	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:78202091C>A	ENST00000349847.3	+	28	1722	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	SCEL_ENST00000377246.3_Missense_Mutation_p.N526K|SCEL_ENST00000535157.1_Missense_Mutation_p.N504K	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	546	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GAGACCAGAACCTGGAAAATT	0.244																																						dbGAP											0													28.0	32.0	31.0					13																	78202091		2138	4222	6360	-	-	-	SO:0001583	missense	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1638C>A	13.37:g.78202091C>A	ENSP00000302579:p.Asn546Lys		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.N546K	ENST00000349847.3	37	c.1638	CCDS9459.1	13	.	.	.	.	.	.	.	.	.	.	C	3.855	-0.031032	0.07543	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.19250	2.16;2.16;2.16	5.14	3.39	0.38822	.	0.346810	0.24856	N	0.035050	T	0.12518	0.0304	N	0.22421	0.69	0.09310	N	1	B;B;B	0.26547	0.152;0.152;0.152	B;B;B	0.21708	0.036;0.036;0.036	T	0.18304	-1.0341	10	0.45353	T	0.12	-1.1632	6.9037	0.24297	0.0:0.7304:0.1763:0.0933	.	504;526;546	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	K	504;526;546	ENSP00000437895:N504K;ENSP00000366454:N526K;ENSP00000302579:N546K	ENSP00000302579:N546K	N	+	3	2	SCEL	77100092	0.306000	0.24490	0.097000	0.21041	0.023000	0.10783	0.488000	0.22371	0.738000	0.32606	-0.274000	0.10170	AAC	SCEL	-	NULL	ENSG00000136155		0.244	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	50	0.00	0	C	NM_144777		78202091	78202091	+1	no_errors	ENST00000349847	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	0.195	A
SCLY	51540	genome.wustl.edu	37	2	238999869	238999869	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:238999869A>G	ENST00000555827.1	+	8	959	c.895A>G	c.(895-897)Acc>Gcc	p.T299A	SCLY_ENST00000409736.2_Missense_Mutation_p.T299A|SCLY_ENST00000422984.2_Missense_Mutation_p.T205A|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000254663.6_Missense_Mutation_p.T307A|SCLY_ENST00000373332.3_Missense_Mutation_p.T217A			Q96I15	SCLY_HUMAN	selenocysteine lyase	299					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		GACAGAGAACACCCCAATGAT	0.443																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	dbGAP											0													252.0	236.0	241.0					2																	238999869		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.895A>G	2.37:g.238999869A>G	ENSP00000450613:p.Thr299Ala		B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS	p.T307A	ENST00000555827.1	37	c.919		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.586301|4.586301	0.86851|0.86851	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000437134|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000409736;ENST00000422984;ENST00000450965	.|D;D;D;D;D;D	.|0.87103	.|-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	5.48|5.48	4.32|4.32	0.51571|0.51571	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.053030	.|0.85682	.|N	.|0.000000	D|D	0.91260|0.91260	0.7245|0.7245	M|M	0.69248|0.69248	2.105|2.105	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.99	.|D;D;P	.|0.74674	.|0.984;0.978;0.87	D|D	0.90018|0.90018	0.4126|0.4126	5|10	.|0.46703	.|T	.|0.11	-34.2869|-34.2869	10.5025|10.5025	0.44815|0.44815	0.9227:0.0:0.0773:0.0|0.9227:0.0:0.0773:0.0	.|.	.|205;299;299	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	R|A	142|307;299;217;299;205;129	.|ENSP00000254663:T307A;ENSP00000450613:T299A;ENSP00000362429:T217A;ENSP00000387162:T299A;ENSP00000416865:T205A;ENSP00000414053:T129A	.|ENSP00000254663:T299A	H|T	+|+	2|1	0|0	SCLY|SCLY	238664608|238664608	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.991000|0.991000	0.79684|0.79684	7.106000|7.106000	0.77039|0.77039	0.917000|0.917000	0.36895|0.36895	0.533000|0.533000	0.62120|0.62120	CAC|ACC	SCLY	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS	ENSG00000132330		0.443	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	SCLY	HGNC	protein_coding		288	0.34	1	A	NM_016510		238999869	238999869	+1	no_errors	ENST00000254663	ensembl	human	known	69_37n	missense	195	17.92	43	SNP	1.000	G
SCN5A	6331	genome.wustl.edu	37	3	38592012	38592012	+	Missense_Mutation	SNP	C	C	T	rs41315493	byFrequency	TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:38592012C>T	ENST00000333535.4	-	28	6000	c.5851G>A	c.(5851-5853)Gtg>Atg	p.V1951M	SCN5A_ENST00000451551.2_Missense_Mutation_p.V1897M|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1933M|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1951M|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1950M|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1933M|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1897M|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1897M|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1950M|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1918M|SCN5A_ENST00000464652.1_5'Flank			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1951			V -> L (in BRGDA1 and LQT3; also found in patients with atrial fibrillation; dbSNP:rs41315493). {ECO:0000269|PubMed:11901046, ECO:0000269|PubMed:18378609}.|V -> M (in ATFB10; dbSNP:rs41315493). {ECO:0000269|PubMed:18378609}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCACTCATCACGTAGGCGATG	0.612																																						dbGAP											0			GRCh37	CM024652	SCN5A	M	rs41315493						35.0	44.0	41.0					3																	38592012		2079	4197	6276	-	-	-	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5851G>A	3.37:g.38592012C>T	ENSP00000328968:p.Val1951Met		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.V1951M	ENST00000333535.4	37	c.5851	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	c	2.443	-0.328264	0.05314	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95724	-3.7;-3.73;-3.73;-3.76;-3.73;-3.7;-3.73;-3.79;-3.76;-3.76	4.95	-0.527	0.11909	.	0.287341	0.41396	N	0.000890	T	0.80292	0.4596	N	0.00554	-1.385	0.19775	N	0.99995	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.001;0.001	T	0.73023	-0.4113	10	0.19147	T	0.46	.	10.7732	0.46336	0.0:0.2048:0.0:0.7952	.	1897;1918;1933;1951;1950;1951	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	M	1933;1950;1951;1897;1950;1933;1951;1918;1897;1897	ENSP00000398962:V1933M;ENSP00000398266:V1950M;ENSP00000410257:V1951M;ENSP00000388797:V1897M;ENSP00000397915:V1950M;ENSP00000416634:V1933M;ENSP00000328968:V1951M;ENSP00000399524:V1918M;ENSP00000403355:V1897M;ENSP00000413996:V1897M	ENSP00000328968:V1951M	V	-	1	0	SCN5A	38567016	1.000000	0.71417	0.918000	0.36340	0.325000	0.28411	1.174000	0.31932	-0.167000	0.10871	-1.088000	0.02184	GTG	SCN5A	-	NULL	ENSG00000183873		0.612	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	74	0.00	0	C	NM_198056		38592012	38592012	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	missense	122	10.79	15	SNP	0.997	T
SCN11A	11280	genome.wustl.edu	37	3	38991723	38991723	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:38991723G>T	ENST00000302328.3	-	1	329	c.131C>A	c.(130-132)aCa>aAa	p.T44K	SCN11A_ENST00000450244.1_Missense_Mutation_p.T44K|SCN11A_ENST00000444237.2_Missense_Mutation_p.T44K|SCN11A_ENST00000456224.3_Missense_Mutation_p.T44K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	44					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACTTCTCCTGTCTGGTCTTT	0.527																																						dbGAP											0													155.0	150.0	152.0					3																	38991723		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.131C>A	3.37:g.38991723G>T	ENSP00000307599:p.Thr44Lys		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.T44K	ENST00000302328.3	37	c.131	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.242643	0.00274	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.95756	-3.8;-3.8;-3.75;-3.66	5.41	2.43	0.29744	.	0.777002	0.12232	N	0.487341	D	0.87653	0.6231	N	0.11255	0.115	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.70382	-0.4887	10	0.07482	T	0.82	.	12.5156	0.56030	0.0:0.0:0.599:0.401	.	44	Q9UI33	SCNBA_HUMAN	K	44	ENSP00000307599:T44K;ENSP00000400945:T44K;ENSP00000416757:T44K;ENSP00000408028:T44K	ENSP00000307599:T44K	T	-	2	0	SCN11A	38966727	0.000000	0.05858	0.040000	0.18447	0.024000	0.10985	0.734000	0.26101	0.637000	0.30526	0.655000	0.94253	ACA	SCN11A	-	NULL	ENSG00000168356		0.527	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	67	0.00	0	G	NM_014139		38991723	38991723	-1	no_errors	ENST00000302328	ensembl	human	known	69_37n	missense	59	58.62	85	SNP	0.000	T
SEC16B	89866	genome.wustl.edu	37	1	177927333	177927333	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:177927333delG	ENST00000308284.6	-	10	1388	c.1299delC	c.(1297-1299)cccfs	p.P433fs	SEC16B_ENST00000464631.2_Frame_Shift_Del_p.P434fs|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	433					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTCCACACTGGGGGGGATCT	0.567																																						dbGAP											0													34.0	37.0	36.0					1																	177927333		1945	4142	6087	-	-	-	SO:0001589	frameshift_variant	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1299delC	1.37:g.177927333delG	ENSP00000308339:p.Pro433fs		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Frame_Shift_Del	DEL	NULL	p.S434fs	ENST00000308284.6	37	c.1299	CCDS44281.1	1																																																																																			SEC16B	-	NULL	ENSG00000120341		0.567	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	Clone_based_vega_gene	protein_coding	OTTHUMT00000084773.16	21	0.00	0	G	NM_033127		177927333	177927333	-1	no_errors	ENST00000308284	ensembl	human	known	69_37n	frame_shift_del	57	13.43	9	DEL	0.033	-
SEMA3A	10371	genome.wustl.edu	37	7	83823823	83823823	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:83823823T>C	ENST00000265362.4	-	1	394	c.80A>G	c.(79-81)aAc>aGc	p.N27S	SEMA3A_ENST00000436949.1_Missense_Mutation_p.N27S	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	27					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGGCACATTGTTCTTCCCATT	0.418																																						dbGAP											0													202.0	199.0	200.0					7																	83823823		2203	4300	6503	-	-	-	SO:0001583	missense	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.80A>G	7.37:g.83823823T>C	ENSP00000265362:p.Asn27Ser			Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.N27S	ENST00000265362.4	37	c.80	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	T	4.141	0.024510	0.08054	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047;ENST00000448879	T;T;T	0.28895	1.71;1.71;1.59	5.64	4.5	0.54988	Semaphorin/CD100 antigen (1);	0.190738	0.53938	D	0.000043	T	0.16428	0.0395	N	0.19112	0.55	0.33443	D	0.582614	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	10	0.09338	T	0.73	.	9.1913	0.37200	0.0:0.1384:0.0:0.8616	.	27	Q14563	SEM3A_HUMAN	S	27	ENSP00000265362:N27S;ENSP00000415260:N27S;ENSP00000391900:N27S	ENSP00000265362:N27S	N	-	2	0	SEMA3A	83661759	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.025000	0.30090	2.157000	0.67596	0.529000	0.55759	AAC	SEMA3A	-	superfamily_Semaphorin/CD100_Ag	ENSG00000075213		0.418	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	233	0.00	0	T	NM_006080		83823823	83823823	-1	no_errors	ENST00000265362	ensembl	human	known	69_37n	missense	214	16.02	41	SNP	1.000	C
SERPINA5	5104	genome.wustl.edu	37	14	95053878	95053878	+	Frame_Shift_Del	DEL	C	C	-	rs377411406		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:95053878delC	ENST00000554866.1	+	2	293	c.179delC	c.(178-180)gccfs	p.A60fs	SERPINA5_ENST00000553780.1_Frame_Shift_Del_p.A60fs|SERPINA5_ENST00000329597.7_Frame_Shift_Del_p.A60fs|SERPINA5_ENST00000554276.1_Frame_Shift_Del_p.A60fs			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	60					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCTTCCGCTGCCCCCAGCCAG	0.597																																						dbGAP											0													37.0	36.0	36.0					14																	95053878		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.179delC	14.37:g.95053878delC	ENSP00000451126:p.Ala60fs		Q07616|Q9UG30	Frame_Shift_Del	DEL	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.S62fs	ENST00000554866.1	37	c.179	CCDS9928.1	14																																																																																			SERPINA5	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000188488		0.597	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA5	HGNC	protein_coding	OTTHUMT00000410726.1	41	0.00	0	C	NM_000624		95053878	95053878	+1	no_errors	ENST00000329597	ensembl	human	known	69_37n	frame_shift_del	23	21.88	7	DEL	0.000	-
SERPINB1	1992	genome.wustl.edu	37	6	2840716	2840716	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:2840716A>C	ENST00000380739.5	-	2	307	c.105T>G	c.(103-105)atT>atG	p.I35M	SERPINB1_ENST00000537185.1_De_novo_Start_InFrame|SERPINB1_ENST00000476896.1_5'UTR	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	35					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TAGCAGATGAAATGCTGAAGG	0.522																																						dbGAP											0													92.0	87.0	88.0					6																	2840716		2203	4300	6503	-	-	-	SO:0001583	missense	0			M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.105T>G	6.37:g.2840716A>C	ENSP00000370115:p.Ile35Met		A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.I35M	ENST00000380739.5	37	c.105	CCDS4477.1	6	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587696	0.66105	.	.	ENSG00000021355	ENST00000380739	D	0.88046	-2.33	5.06	-0.106	0.13596	Serpin domain (3);	0.045709	0.85682	D	0.000000	D	0.84547	0.5496	M	0.86740	2.835	0.80722	D	1	P	0.45569	0.861	P	0.51079	0.658	T	0.80578	-0.1320	10	0.44086	T	0.13	.	4.5001	0.11860	0.5184:0.0:0.3393:0.1423	.	35	P30740	ILEU_HUMAN	M	35	ENSP00000370115:I35M	ENSP00000370115:I35M	I	-	3	3	SERPINB1	2785715	0.627000	0.27129	0.599000	0.28851	0.965000	0.64279	-0.152000	0.10159	-0.174000	0.10743	0.459000	0.35465	ATT	SERPINB1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000021355		0.522	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB1	HGNC	protein_coding	OTTHUMT00000039637.1	62	0.00	0	A			2840716	2840716	-1	no_errors	ENST00000380739	ensembl	human	known	69_37n	missense	130	16.67	26	SNP	0.998	C
SF3B2	10992	genome.wustl.edu	37	11	65826406	65826406	+	Missense_Mutation	SNP	C	C	T	rs200930603		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:65826406C>T	ENST00000322535.6	+	10	1121	c.1072C>T	c.(1072-1074)Cgt>Tgt	p.R358C	SF3B2_ENST00000528302.1_Missense_Mutation_p.R341C	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	358					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AACCCGGTCCCGTGGCTCTGA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		17379	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													61.0	64.0	63.0					11																	65826406		2201	4295	6496	-	-	-	SO:0001583	missense	0			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1072C>T	11.37:g.65826406C>T	ENSP00000318861:p.Arg358Cys		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd	p.R358C	ENST00000322535.6	37	c.1072	CCDS31612.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.31	2.797076	0.50208	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456;ENST00000530322	.	.	.	5.45	5.45	0.79879	.	0.391449	0.28104	N	0.016585	T	0.33876	0.0878	N	0.08118	0	0.44366	D	0.997268	D	0.64830	0.994	P	0.45660	0.489	T	0.35500	-0.9786	9	0.59425	D	0.04	-12.451	14.7906	0.69841	0.0:1.0:0.0:0.0	.	358	Q13435	SF3B2_HUMAN	C	341;358;262;352	.	ENSP00000318861:R358C	R	+	1	0	SF3B2	65582982	0.633000	0.27181	0.504000	0.27639	0.180000	0.23129	1.253000	0.32886	2.571000	0.86741	0.561000	0.74099	CGT	SF3B2	-	NULL	ENSG00000087365		0.517	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	93	0.00	0	C			65826406	65826406	+1	no_errors	ENST00000322535	ensembl	human	known	69_37n	missense	85	22.73	25	SNP	0.627	T
SF3B3	23450	genome.wustl.edu	37	16	70589014	70589014	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:70589014C>T	ENST00000302516.5	+	13	1826	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	539					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GTGGAAGACCCCTGGAAAGAA	0.458																																						dbGAP											0													195.0	186.0	189.0					16																	70589014		2198	4300	6498	-	-	-	SO:0001583	missense	0			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1615C>T	16.37:g.70589014C>T	ENSP00000305790:p.Pro539Ser		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.P539S	ENST00000302516.5	37	c.1615	CCDS10894.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.674064	0.96764	.	.	ENSG00000189091	ENST00000302516	T	0.44083	0.93	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	M	0.89715	3.055	0.80722	D	1	D	0.67145	0.996	D	0.66084	0.941	T	0.75399	-0.3331	10	0.56958	D	0.05	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	539	Q15393	SF3B3_HUMAN	S	539	ENSP00000305790:P539S	ENSP00000305790:P539S	P	+	1	0	SF3B3	69146515	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	7.792000	0.85828	2.835000	0.97688	0.591000	0.81541	CCT	SF3B3	-	superfamily_WD40_repeat_dom	ENSG00000189091		0.458	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	190	0.00	0	C	NM_012426		70589014	70589014	+1	no_errors	ENST00000302516	ensembl	human	known	69_37n	missense	88	42.95	67	SNP	1.000	T
SH3BP1	23616	genome.wustl.edu	37	22	38039004	38039004	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:38039004G>A	ENST00000357436.4	+	5	700	c.387G>A	c.(385-387)agG>agA	p.R129R	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000336738.5_Silent_p.R129R|SH3BP1_ENST00000599616.1_Silent_p.R65R|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Silent_p.R129R	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	129	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CACTCAGCAGGCTGAGTGAGG	0.642											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													51.0	46.0	47.0					22																	38039004		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.387G>A	22.37:g.38039004G>A		875	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.R129	ENST00000357436.4	37	c.387	CCDS13952.2	22																																																																																			SH3BP1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000100092		0.642	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000075884.4	13	0.00	0	G	NM_018957		38039004	38039004	+1	no_errors	ENST00000357436	ensembl	human	known	69_37n	silent	19	28.57	8	SNP	1.000	A
SHCBP1L	81626	genome.wustl.edu	37	1	182920474	182920474	+	Silent	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:182920474A>T	ENST00000367547.3	-	2	770	c.534T>A	c.(532-534)ccT>ccA	p.P178P	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Silent_p.P59P	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	250										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TACCAACAAAAGGGATAGAAG	0.289																																						dbGAP											0													52.0	54.0	54.0					1																	182920474		2202	4295	6497	-	-	-	SO:0001819	synonymous_variant	0			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.534T>A	1.37:g.182920474A>T			Q4G195|Q9BZQ3|Q9H2B6	Silent	SNP	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	p.P178	ENST00000367547.3	37	c.534	CCDS30955.1	1																																																																																			SHCBP1L	-	NULL	ENSG00000157060		0.289	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1L	HGNC	protein_coding	OTTHUMT00000085956.1	72	0.00	0	A	NM_030933		182920474	182920474	-1	no_errors	ENST00000367547	ensembl	human	known	69_37n	silent	65	14.47	11	SNP	0.996	T
SHISA6	388336	genome.wustl.edu	37	17	11166756	11166756	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:11166756A>G	ENST00000409168.3	+	2	712	c.712A>G	c.(712-714)Atc>Gtc	p.I238V	SHISA6_ENST00000432116.3_Missense_Mutation_p.I238V|SHISA6_ENST00000441885.3_Missense_Mutation_p.I238V	NM_001173461.1	NP_001166932.1	Q6ZSJ9	SHSA6_HUMAN	shisa family member 6	238						alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)				breast(1)|endometrium(4)	5						TATCTCGGCTATCGATACCTC	0.493																																						dbGAP											0													190.0	151.0	163.0					17																	11166756		692	1591	2283	-	-	-	SO:0001583	missense	0			AK127379, AK128003	CCDS45615.1, CCDS54089.1, CCDS54090.1	17p13.1-p12	2013-07-31	2013-07-31		ENSG00000188803	ENSG00000188803		"""Shisa homologs"""	34491	protein-coding gene	gene with protein product			"""shisa homolog 6 (Xenopus laevis)"""				Standard	NM_207386		Approved	FLJ45455	uc002gnc.2	Q6ZSJ9	OTTHUMG00000154121	ENST00000409168.3:c.712A>G	17.37:g.11166756A>G	ENSP00000387157:p.Ile238Val		B3KXV5|Q4PL63	Missense_Mutation	SNP	NULL	p.I238V	ENST00000409168.3	37	c.712	CCDS54090.1	17	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894722	0.33442	.	.	ENSG00000188803	ENST00000441885;ENST00000432116;ENST00000409168;ENST00000343478	T;T;T	0.42131	0.98;0.98;0.98	5.86	4.72	0.59763	.	0.056008	0.64402	D	0.000001	T	0.18923	0.0454	N	0.13235	0.315	0.29851	N	0.828469	B;B	0.21821	0.049;0.061	B;B	0.20767	0.018;0.031	T	0.29181	-1.0020	10	0.02654	T	1	.	5.7748	0.18273	0.7456:0.1706:0.0838:0.0	.	238;238	Q6ZSJ9-3;Q6ZSJ9	.;SHSA6_HUMAN	V	238;238;238;136	ENSP00000390084:I238V;ENSP00000388659:I238V;ENSP00000387157:I238V	ENSP00000340821:I136V	I	+	1	0	SHISA6	11107481	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.849000	0.62882	2.367000	0.80283	0.528000	0.53228	ATC	SHISA6	-	NULL	ENSG00000188803		0.493	SHISA6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHISA6	HGNC	protein_coding	OTTHUMT00000333970.2	115	0.86	1	A	NM_207386		11166756	11166756	+1	no_errors	ENST00000441885	ensembl	human	known	69_37n	missense	105	17.97	23	SNP	0.998	G
SIDT2	51092	genome.wustl.edu	37	11	117060973	117060973	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:117060973C>T	ENST00000324225.4	+	17	2116	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W	SIDT2_ENST00000532062.1_5'Flank|SIDT2_ENST00000431081.2_Missense_Mutation_p.R526W	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	529					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CAACCACAACCGGGCCCTGCT	0.607																																						dbGAP											0													124.0	118.0	120.0					11																	117060973		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1585C>T	11.37:g.117060973C>T	ENSP00000314023:p.Arg529Trp		Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.R550W	ENST00000324225.4	37	c.1648	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534714	0.85812	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.24538	1.85;1.85;1.85	4.6	2.69	0.31865	.	0.138824	0.49305	D	0.000142	T	0.48169	0.1485	M	0.69823	2.125	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.985;0.973;0.989;0.992	T	0.50955	-0.8766	10	0.87932	D	0	-25.0419	13.321	0.60432	0.2878:0.7122:0.0:0.0	.	550;526;529;550	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	W	529;550;526	ENSP00000314023:R529W;ENSP00000278951:R550W;ENSP00000399635:R526W	ENSP00000278951:R550W	R	+	1	2	SIDT2	116566183	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.350000	0.44063	0.533000	0.28675	0.491000	0.48974	CGG	SIDT2	-	NULL	ENSG00000149577		0.607	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	84	0.00	0	C	NM_015996		117060973	117060973	+1	no_errors	ENST00000278951	ensembl	human	known	69_37n	missense	128	17.42	27	SNP	1.000	T
SIGLEC7	27036	genome.wustl.edu	37	19	51646010	51646010	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:51646010A>G	ENST00000317643.6	+	1	453	c.384A>G	c.(382-384)ggA>ggG	p.G128G	SIGLEC7_ENST00000305628.7_Silent_p.G128G|SIGLEC7_ENST00000600577.1_Silent_p.G128G	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	128					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TGGAGAAAGGAAATATAAAAT	0.468																																						dbGAP											0													79.0	82.0	81.0					19																	51646010		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.384A>G	19.37:g.51646010A>G			Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G128	ENST00000317643.6	37	c.384	CCDS12826.1	19																																																																																			SIGLEC7	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000168995		0.468	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	HGNC	protein_coding	OTTHUMT00000464226.2	91	0.00	0	A	NM_016543		51646010	51646010	+1	no_errors	ENST00000317643	ensembl	human	known	69_37n	silent	91	19.47	22	SNP	0.257	G
SIGLEC8	27181	genome.wustl.edu	37	19	51958839	51958839	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:51958839C>A	ENST00000321424.3	-	4	950	c.884G>T	c.(883-885)tGg>tTg	p.W295L	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.W186L|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W202L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	295	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.W295L(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCCCGGGTCCAGCTCAGCCT	0.627																																						dbGAP											1	Substitution - Missense(1)	central_nervous_system(1)											54.0	54.0	54.0					19																	51958839		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.884G>T	19.37:g.51958839C>A	ENSP00000321077:p.Trp295Leu		Q7Z728	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.W295L	ENST00000321424.3	37	c.884	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	12.87	2.068499	0.36470	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.80824	-1.42;-1.42;-1.42	2.19	2.19	0.27852	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35495	N	0.003173	D	0.87649	0.6230	M	0.92691	3.335	0.09310	N	1	P;P;P	0.49696	0.528;0.927;0.763	B;P;P	0.55011	0.385;0.654;0.766	T	0.79006	-0.1979	10	0.62326	D	0.03	.	7.9807	0.30181	0.0:1.0:0.0:0.0	.	186;202;295	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	L	186;295;202	ENSP00000389142:W186L;ENSP00000321077:W295L;ENSP00000339448:W202L	ENSP00000321077:W295L	W	-	2	0	SIGLEC8	56650651	0.723000	0.28027	0.106000	0.21319	0.401000	0.30781	2.117000	0.41939	1.533000	0.49186	0.502000	0.49764	TGG	SIGLEC8	-	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000105366		0.627	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	51	0.00	0	C	NM_014442		51958839	51958839	-1	no_errors	ENST00000321424	ensembl	human	known	69_37n	missense	96	15.04	17	SNP	0.139	A
SIK3	23387	genome.wustl.edu	37	11	116827664	116827664	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:116827664C>T	ENST00000292055.4	-	2	251	c.216G>A	c.(214-216)caG>caA	p.Q72Q	SIK3_ENST00000446921.2_Splice_Site_p.Q130Q|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Splice_Site_p.Q130Q|SIK3_ENST00000542607.1_Splice_Site_p.Q72Q	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATGATCCTACCTGGTAGAGCC	0.418																																						dbGAP											0													220.0	236.0	230.0					11																	116827664		2201	4296	6497	-	-	-	SO:0001630	splice_region_variant	0			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.216+1G>A	11.37:g.116827664C>T			A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.G124S	ENST00000292055.4	37	c.370	CCDS8379.1	11	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111540	0.56398	.	.	ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.77638	0.4160	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73658	-0.3913	4	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	S	124;95;33	.	.	G	-	1	0	SIK3	116332874	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGT	SIK3	-	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	ENSG00000160584		0.418	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	HGNC	protein_coding		162	0.00	0	C	NM_025164	Silent	116827664	116827664	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000445177	ensembl	human	novel	69_37n	missense	187	16.52	37	SNP	1.000	T
SIRPA	140885	genome.wustl.edu	37	20	1903212	1903212	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:1903212C>T	ENST00000358771.4	+	4	1160	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D	SIRPA_ENST00000356025.3_Silent_p.D336D|SIRPA_ENST00000400068.3_Silent_p.D336D	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	336	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TGGAGCATGACGGGCAGCCAG	0.572																																					GBM(155;1668 1920 5945 42733 48121)	dbGAP											0													68.0	57.0	61.0					20																	1903212		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1008C>T	20.37:g.1903212C>T			A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.D336	ENST00000358771.4	37	c.1008	CCDS13022.1	20																																																																																			SIRPA	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000198053		0.572	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPA	HGNC	protein_coding	OTTHUMT00000077568.2	125	0.00	0	C	NM_080792		1903212	1903212	+1	no_errors	ENST00000400068	ensembl	human	known	69_37n	silent	103	20.16	26	SNP	0.002	T
SLAIN2	57606	genome.wustl.edu	37	4	48424070	48424070	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:48424070C>T	ENST00000264313.6	+	8	2140	c.1722C>T	c.(1720-1722)gaC>gaT	p.D574D	SLAIN2_ENST00000512093.1_Silent_p.D407D	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	574					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TGAAAGATGACAGTTGGAAAG	0.368																																						dbGAP											0													64.0	61.0	62.0					4																	48424070		1867	4105	5972	-	-	-	SO:0001819	synonymous_variant	0			BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1722C>T	4.37:g.48424070C>T			A8K4P1|Q8N5R3	Silent	SNP	NULL	p.D574	ENST00000264313.6	37	c.1722	CCDS47051.1	4																																																																																			SLAIN2	-	NULL	ENSG00000109171		0.368	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAIN2	HGNC	protein_coding	OTTHUMT00000365807.4	87	0.00	0	C	NM_020846		48424070	48424070	+1	no_errors	ENST00000264313	ensembl	human	known	69_37n	silent	75	18.48	17	SNP	1.000	T
SLC10A3	8273	genome.wustl.edu	37	X	153717203	153717203	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:153717203A>G	ENST00000393587.4	-	3	340	c.77T>C	c.(76-78)tTa>tCa	p.L26S	UBL4A_ENST00000477777.1_5'Flank|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.L81S|SLC10A3_ENST00000263512.4_Missense_Mutation_p.L26S|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.L26S	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	26					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGCATGCTTAAGGGACCTGT	0.647																																						dbGAP											0													49.0	37.0	41.0					X																	153717203		2203	4299	6502	-	-	-	SO:0001583	missense	0			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.77T>C	X.37:g.153717203A>G	ENSP00000377212:p.Leu26Ser		Q5HY79|Q9BSL2	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.L26S	ENST00000393587.4	37	c.77	CCDS14755.1	X	.	.	.	.	.	.	.	.	.	.	A	0.088	-1.171827	0.01646	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T	0.08896	3.12;3.04;3.12;3.12	4.0	1.55	0.23275	.	1.444780	0.05622	U	0.580143	T	0.09598	0.0236	L	0.51422	1.61	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.10450	0.005;0.003	T	0.40001	-0.9586	10	0.62326	D	0.03	3.7369	3.9841	0.09507	0.5689:0.2176:0.0:0.2135	.	26;26	Q9BSL2;P09131	.;P3_HUMAN	S	26;81;26;26;26	ENSP00000358663:L26S;ENSP00000377211:L81S;ENSP00000263512:L26S;ENSP00000377212:L26S	ENSP00000263512:L26S	L	-	2	0	SLC10A3	153370397	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.161000	0.10026	0.047000	0.15862	0.352000	0.21897	TTA	SLC10A3	-	NULL	ENSG00000126903		0.647	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	HGNC	protein_coding	OTTHUMT00000037235.3	34	0.00	0	A	NM_019848		153717203	153717203	-1	no_errors	ENST00000263512	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	0.000	G
SLC10A5	347051	genome.wustl.edu	37	8	82606341	82606342	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:82606341_82606342delTA	ENST00000518568.1	-	1	2067_2068	c.866_867delTA	c.(865-867)atafs	p.I289fs		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	289						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GCTTGATGACTATTCCAATTGA	0.327																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.866_867delTA	8.37:g.82606341_82606342delTA	ENSP00000428612:p.Ile289fs		B2RN26	Frame_Shift_Del	DEL	pfam_BilAc/Na_symport	p.I289fs	ENST00000518568.1	37	c.867_866	CCDS34915.1	8																																																																																			SLC10A5	-	pfam_BilAc/Na_symport	ENSG00000253598		0.327	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A5	HGNC	protein_coding	OTTHUMT00000379736.1	70	0.00	0	TA	XM_294493		82606341	82606342	-1	no_errors	ENST00000518568	ensembl	human	known	69_37n	frame_shift_del	37	84.53	235	DEL	0.994:0.998	-
SLC12A9	56996	genome.wustl.edu	37	7	100453404	100453404	+	Silent	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:100453404C>A	ENST00000354161.3	+	4	518	c.393C>A	c.(391-393)ggC>ggA	p.G131G	SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000428758.1_Silent_p.G131G|SLC12A9_ENST00000540482.1_Silent_p.G131G	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	131					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACGTCTGTGGCTGTGCCGTCT	0.622																																						dbGAP											0													168.0	145.0	153.0					7																	100453404		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.393C>A	7.37:g.100453404C>A			B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	pfam_AA-permease_dom	p.G131	ENST00000354161.3	37	c.393	CCDS5707.1	7																																																																																			SLC12A9	-	pfam_AA-permease_dom	ENSG00000146828		0.622	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A9	HGNC	protein_coding	OTTHUMT00000342837.1	162	0.00	0	C	NM_020246		100453404	100453404	+1	no_errors	ENST00000354161	ensembl	human	known	69_37n	silent	123	20.65	32	SNP	0.998	A
SLC17A9	63910	genome.wustl.edu	37	20	61588223	61588223	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:61588223G>A	ENST00000370351.4	+	2	297	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	SLC17A9_ENST00000370349.3_Missense_Mutation_p.G50S|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	56					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCAGGACTTCGGCTGGAACAA	0.642																																						dbGAP											0													46.0	54.0	51.0					20																	61588223		2132	4241	6373	-	-	-	SO:0001583	missense	0			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.166G>A	20.37:g.61588223G>A	ENSP00000359376:p.Gly56Ser		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G56S	ENST00000370351.4	37	c.166	CCDS42901.1	20	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335019	0.60853	.	.	ENSG00000101194	ENST00000370351;ENST00000370349;ENST00000411611	T;T;T	0.63417	-0.04;-0.04;-0.04	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.157516	0.64402	D	0.000017	T	0.53578	0.1805	L	0.37630	1.12	0.43347	D	0.995401	P;B;B	0.39696	0.683;0.43;0.377	B;B;B	0.40038	0.317;0.21;0.133	T	0.51474	-0.8701	10	0.24483	T	0.36	.	15.0644	0.71983	0.0:0.1422:0.8578:0.0	.	76;56;50	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	S	56;50;76	ENSP00000359376:G56S;ENSP00000359374:G50S;ENSP00000388215:G76S	ENSP00000359374:G50S	G	+	1	0	SLC17A9	61058668	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	3.065000	0.49994	2.222000	0.72286	0.655000	0.94253	GGC	SLC17A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000101194		0.642	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A9	HGNC	protein_coding	OTTHUMT00000080100.1	36	0.00	0	G	NM_022082		61588223	61588223	+1	no_errors	ENST00000370351	ensembl	human	known	69_37n	missense	35	23.91	11	SNP	1.000	A
SLC19A3	80704	genome.wustl.edu	37	2	228563696	228563696	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:228563696A>G	ENST00000258403.3	-	3	806	c.735T>C	c.(733-735)aaT>aaC	p.N245N	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.N241N	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	245					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCTGGCCCTTATTCAGCTTCC	0.473																																						dbGAP											0													150.0	130.0	137.0					2																	228563696		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.735T>C	2.37:g.228563696A>G				Silent	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.N245	ENST00000258403.3	37	c.735	CCDS2468.1	2																																																																																			SLC19A3	-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000135917		0.473	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	HGNC	protein_coding	OTTHUMT00000256894.1	191	0.00	0	A			228563696	228563696	-1	no_errors	ENST00000258403	ensembl	human	known	69_37n	silent	142	16.96	29	SNP	0.000	G
SLC22A18AS	5003	genome.wustl.edu	37	11	2920736	2920736	+	Missense_Mutation	SNP	G	G	C	rs551316670		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:2920736G>C	ENST00000533594.1	-	3	692	c.196C>G	c.(196-198)Cgg>Ggg	p.R66G	SLC22A18_ENST00000449793.2_5'Flank|SLC22A18_ENST00000347936.2_5'Flank|SLC22A18_ENST00000312221.5_5'Flank|SLC22A18_ENST00000380574.1_5'Flank|SLC22A18AS_ENST00000455942.2_Intron	NM_007105.2	NP_009036.2	Q8N1D0	BWR1B_HUMAN	solute carrier family 22 (organic cation transporter), member 18 antisense	66										NS(1)|endometrium(2)	3						cctctcatccggcagaactgt	0.617																																						dbGAP											0													100.0	85.0	90.0					11																	2920736		692	1591	2283	-	-	-	SO:0001583	missense	0			AF035407	CCDS7739.1	11p15.5	2011-02-10	2005-08-23	2005-08-23	ENSG00000254827	ENSG00000254827			10965	protein-coding gene	gene with protein product		603240	"""solute carrier family 22 (organic cation transporter), member 1-like antisense"""	BWSCR1B, ORCTL2S, SLC22A1LS		9570947, 9520460, 15175115	Standard	NM_007105		Approved	BWR1B, p27-BWR1B	uc001lwv.4	Q8N1D0	OTTHUMG00000010038	ENST00000533594.1:c.196C>G	11.37:g.2920736G>C	ENSP00000433282:p.Arg66Gly		E9PLK8|O43563	Missense_Mutation	SNP	NULL	p.R66G	ENST00000533594.1	37	c.196	CCDS7739.1	11	.	.	.	.	.	.	.	.	.	.	G	0.565	-0.843698	0.02671	.	.	ENSG00000254827	ENST00000533594	T	0.39592	1.07	1.54	-1.83	0.07833	.	.	.	.	.	T	0.18425	0.0442	N	0.08118	0	0.09310	N	0.999998	B	0.09022	0.002	B	0.06405	0.002	T	0.16778	-1.0391	9	0.87932	D	0	.	2.0567	0.03583	0.3607:0.0:0.3855:0.2538	.	66	E9PLK8	.	G	66	ENSP00000433282:R66G	ENSP00000433282:R66G	R	-	1	2	SLC22A18AS	2877312	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	-1.410000	0.02480	-0.575000	0.05982	-0.657000	0.03884	CGG	SLC22A18AS	-	NULL	ENSG00000254827		0.617	SLC22A18AS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A18AS	HGNC	protein_coding	OTTHUMT00000027771.3	72	0.00	0	G	NM_007105		2920736	2920736	-1	no_errors	ENST00000533594	ensembl	human	known	69_37n	missense	56	19.72	14	SNP	0.000	C
SLC25A12	8604	genome.wustl.edu	37	2	172641950	172641950	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:172641950C>T	ENST00000422440.2	-	18	1908	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	SLC25A12_ENST00000392592.4_Missense_Mutation_p.R517H	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	624					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)	p.R624H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GTCTGCAATGCGTGACTTAGG	0.502																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											199.0	178.0	185.0					2																	172641950		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1871G>A	2.37:g.172641950C>T	ENSP00000388658:p.Arg624His		B3KR64|Q96AM8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.R624H	ENST00000422440.2	37	c.1871	CCDS33327.1	2	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187897	0.38609	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.78816	-1.21;-1.18	6.02	5.15	0.70609	.	0.204155	0.48767	D	0.000172	T	0.66257	0.2771	N	0.22421	0.69	0.39853	D	0.973267	B;B	0.15719	0.014;0.014	B;B	0.08055	0.002;0.003	T	0.61720	-0.7005	10	0.30078	T	0.28	-7.4569	15.4976	0.75666	0.0:0.9337:0.0:0.0663	.	517;624	B3KR64;O75746	.;CMC1_HUMAN	H	624;517	ENSP00000388658:R624H;ENSP00000376371:R517H	ENSP00000376371:R517H	R	-	2	0	SLC25A12	172350196	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.005000	0.49521	1.548000	0.49413	0.650000	0.86243	CGC	SLC25A12	-	NULL	ENSG00000115840		0.502	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	152	0.65	1	C	NM_003705		172641950	172641950	-1	no_errors	ENST00000422440	ensembl	human	known	69_37n	missense	130	20.25	33	SNP	0.999	T
SLC26A5	375611	genome.wustl.edu	37	7	103019728	103019728	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:103019728C>T	ENST00000306312.3	-	16	1900	c.1639G>A	c.(1639-1641)Gca>Aca	p.A547T	SLC26A5_ENST00000339444.6_Missense_Mutation_p.A547T|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A510T|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A547T|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A515T|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A515T|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A515T	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	547	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCGCTATTTGCATAGTAAATT	0.328																																						dbGAP											0													120.0	113.0	115.0					7																	103019728		2203	4299	6502	-	-	-	SO:0001583	missense	0			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1639G>A	7.37:g.103019728C>T	ENSP00000304783:p.Ala547Thr		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.A547T	ENST00000306312.3	37	c.1639	CCDS5733.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.099429	0.94197	.	.	ENSG00000170615	ENST00000339444;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	6.13	6.13	0.99165	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.048369	0.85682	D	0.000000	D	0.94345	0.8182	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.77557	0.951;0.99;0.983	D	0.93662	0.6982	10	0.54805	T	0.06	.	18.6132	0.91294	0.0:1.0:0.0:0.0	.	547;515;547	P58743;Q496J2;P58743-2	S26A5_HUMAN;.;.	T	547;547;515;515;510;547;515	ENSP00000342396:A547T;ENSP00000304783:A547T;ENSP00000377331:A515T;ENSP00000389733:A515T;ENSP00000377330:A510T;ENSP00000377328:A547T;ENSP00000377324:A515T	ENSP00000304783:A547T	A	-	1	0	SLC26A5	102806964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.669000	0.68081	2.932000	0.99384	0.644000	0.83932	GCA	SLC26A5	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	ENSG00000170615		0.328	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A5	HGNC	protein_coding	OTTHUMT00000313860.1	190	0.00	0	C	NM_198999		103019728	103019728	-1	no_errors	ENST00000306312	ensembl	human	known	69_37n	missense	170	17.48	36	SNP	1.000	T
SLC34A1	6569	genome.wustl.edu	37	5	176814816	176814816	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:176814816T>C	ENST00000324417.5	+	6	677	c.586T>C	c.(586-588)Tct>Cct	p.S196P	SLC34A1_ENST00000512593.1_Missense_Mutation_p.S196P	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	196					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCGGCACCTCTGTCACCAA	0.622																																						dbGAP											0													94.0	82.0	86.0					5																	176814816		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.586T>C	5.37:g.176814816T>C	ENSP00000321424:p.Ser196Pro		B4DPE3	Missense_Mutation	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.S196P	ENST00000324417.5	37	c.586	CCDS4418.1	5	.	.	.	.	.	.	.	.	.	.	T	26.2	4.713723	0.89112	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	D;D	0.86627	-2.15;-2.15	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.94391	0.8196	M	0.90595	3.13	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.95482	0.8561	10	0.87932	D	0	-33.7875	14.9585	0.71138	0.0:0.0:0.0:1.0	.	196	Q06495	NPT2A_HUMAN	P	196	ENSP00000423022:S196P;ENSP00000321424:S196P	ENSP00000321424:S196P	S	+	1	0	SLC34A1	176747422	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.902000	0.87389	1.942000	0.56320	0.454000	0.30748	TCT	SLC34A1	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	ENSG00000131183		0.622	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1	61	0.00	0	T	NM_003052		176814816	176814816	+1	no_errors	ENST00000324417	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	1.000	C
SLC37A1	54020	genome.wustl.edu	37	21	43959732	43959732	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr21:43959732G>A	ENST00000352133.2	+	6	1443	c.461G>A	c.(460-462)aGt>aAt	p.S154N	SLC37A1_ENST00000398341.3_Missense_Mutation_p.S154N			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	154					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						AACATCCACAGTTTCGGATTC	0.527																																						dbGAP											0													121.0	102.0	108.0					21																	43959732		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.461G>A	21.37:g.43959732G>A	ENSP00000344648:p.Ser154Asn		D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S154N	ENST00000352133.2	37	c.461	CCDS13689.1	21	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309128	0.23821	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.60424	0.19;0.19	4.71	3.68	0.42216	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.141178	0.64402	D	0.000005	T	0.32285	0.0824	N	0.10837	0.055	0.36342	D	0.859555	B	0.06786	0.001	B	0.15484	0.013	T	0.27262	-1.0079	10	0.30854	T	0.27	-19.8012	5.5529	0.17101	0.3174:0.0:0.6826:0.0	.	154	P57057	GLPT_HUMAN	N	154	ENSP00000381383:S154N;ENSP00000344648:S154N	ENSP00000344648:S154N	S	+	2	0	SLC37A1	42832801	0.171000	0.23029	0.921000	0.36526	0.986000	0.74619	0.484000	0.22308	2.175000	0.68902	0.555000	0.69702	AGT	SLC37A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000160190		0.527	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC37A1	HGNC	protein_coding	OTTHUMT00000195377.1	128	0.00	0	G			43959732	43959732	+1	no_errors	ENST00000352133	ensembl	human	known	69_37n	missense	131	18.12	29	SNP	0.431	A
SLC38A2	54407	genome.wustl.edu	37	12	46760683	46760683	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:46760683A>G	ENST00000256689.5	-	7	971	c.527T>C	c.(526-528)gTg>gCg	p.V176A	SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	176					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TGCCTGGATCACCAAAGGCAA	0.368																																					Ovarian(9;448 492 8335 28722 40361)	dbGAP											0													93.0	88.0	90.0					12																	46760683		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.527T>C	12.37:g.46760683A>G	ENSP00000256689:p.Val176Ala		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.V176A	ENST00000256689.5	37	c.527	CCDS8749.1	12	.	.	.	.	.	.	.	.	.	.	A	19.39	3.819172	0.71028	.	.	ENSG00000134294	ENST00000256689	T	0.02763	4.17	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.12860	0.0312	L	0.59967	1.855	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.02698	-1.1122	10	0.33940	T	0.23	-20.3547	16.8222	0.85835	1.0:0.0:0.0:0.0	.	76;176	Q96QD8-2;Q96QD8	.;S38A2_HUMAN	A	176	ENSP00000256689:V176A	ENSP00000256689:V176A	V	-	2	0	SLC38A2	45046950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	GTG	SLC38A2	-	pfam_AA_transpt_TM	ENSG00000134294		0.368	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A2	HGNC	protein_coding	OTTHUMT00000404226.1	125	0.00	0	A			46760683	46760683	-1	no_errors	ENST00000256689	ensembl	human	known	69_37n	missense	61	34.04	32	SNP	1.000	G
SLC43A1	8501	genome.wustl.edu	37	11	57252590	57252590	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:57252590G>A	ENST00000278426.3	-	15	2014	c.1659C>T	c.(1657-1659)agC>agT	p.S553S	SLC43A1_ENST00000528450.1_Silent_p.S553S	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CCTCAGAGCCGCTAAGCACCT	0.562																																						dbGAP											0													65.0	58.0	60.0					11																	57252590		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1659C>T	11.37:g.57252590G>A				Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S553	ENST00000278426.3	37	c.1659	CCDS7958.1	11																																																																																			SLC43A1	-	NULL	ENSG00000149150		0.562	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC43A1	HGNC	protein_coding	OTTHUMT00000392541.1	64	0.00	0	G	NM_003627		57252590	57252590	-1	no_errors	ENST00000278426	ensembl	human	known	69_37n	silent	83	14.43	14	SNP	0.000	A
SLC5A5	6528	genome.wustl.edu	37	19	17983266	17983268	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:17983266_17983268delCTT	ENST00000222248.3	+	1	485_487	c.138_140delCTT	c.(136-141)gacttc>gac	p.F48del		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	48					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCGCTGAGGACTTCTTCACCGGG	0.724																																					Melanoma(65;1008 1708 7910 46650)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.138_140delCTT	19.37:g.17983269_17983271delCTT	ENSP00000222248:p.Phe48del		O43702|Q2M335|Q9NYB6	In_Frame_Del	DEL	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.F48in_frame_del	ENST00000222248.3	37	c.138_140	CCDS12368.1	19																																																																																			SLC5A5	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000105641		0.724	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	HGNC	protein_coding	OTTHUMT00000466690.1	19	0.00	0	CTT			17983266	17983268	+1	no_errors	ENST00000222248	ensembl	human	known	69_37n	in_frame_del	15	16.67	3	DEL	1.000:1.000:1.000	-
SLC6A4	6532	genome.wustl.edu	37	17	28539803	28539803	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:28539803C>T	ENST00000401766.2	-	8	1671	c.1159G>A	c.(1159-1161)Gct>Act	p.A387T	SLC6A4_ENST00000261707.3_Missense_Mutation_p.A387T			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	387					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	CTCATCTCAGCCATGTAACCG	0.527																																						dbGAP											0													150.0	128.0	135.0					17																	28539803		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1159G>A	17.37:g.28539803C>T	ENSP00000385822:p.Ala387Thr		Q5EE02	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N	p.A387T	ENST00000401766.2	37	c.1159	CCDS11256.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.616064	0.96649	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.80566	-1.39;-1.39	5.28	5.28	0.74379	.	0.045426	0.85682	D	0.000000	D	0.92567	0.7639	H	0.95745	3.715	0.80722	D	1	D	0.63046	0.992	D	0.65773	0.938	D	0.94371	0.7596	10	0.87932	D	0	.	18.0737	0.89421	0.0:1.0:0.0:0.0	.	387	P31645	SC6A4_HUMAN	T	429;387;387	ENSP00000385822:A387T;ENSP00000261707:A387T	ENSP00000261707:A387T	A	-	1	0	SLC6A4	25563929	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.651000	0.83577	2.750000	0.94351	0.655000	0.94253	GCT	SLC6A4	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000108576		0.527	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	HGNC	protein_coding	OTTHUMT00000256115.3	100	0.00	0	C	NM_001045		28539803	28539803	-1	no_errors	ENST00000261707	ensembl	human	known	69_37n	missense	62	43.12	47	SNP	1.000	T
SLC6A5	9152	genome.wustl.edu	37	11	20629163	20629163	+	Missense_Mutation	SNP	C	C	T	rs150764554		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:20629163C>T	ENST00000525748.1	+	5	1223	c.950C>T	c.(949-951)aCg>aTg	p.T317M		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	317					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCTTGGAATACGCCAGAATGC	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		20357	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													132.0	126.0	128.0					11																	20629163		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.950C>T	11.37:g.20629163C>T	ENSP00000434364:p.Thr317Met		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.T317M	ENST00000525748.1	37	c.950	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693742	0.88735	.	.	ENSG00000165970	ENST00000525748	T	0.76448	-1.02	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.90393	0.6993	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91544	0.5252	10	0.87932	D	0	.	19.4682	0.94951	0.0:1.0:0.0:0.0	.	317	Q9Y345	SC6A5_HUMAN	M	317	ENSP00000434364:T317M	ENSP00000434364:T317M	T	+	2	0	SLC6A5	20585739	1.000000	0.71417	0.983000	0.44433	0.960000	0.62799	7.487000	0.81328	2.699000	0.92147	0.563000	0.77884	ACG	SLC6A5	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000165970		0.373	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	127	0.00	0	C	NM_004211		20629163	20629163	+1	no_errors	ENST00000525748	ensembl	human	known	69_37n	missense	124	15.07	22	SNP	1.000	T
SLC6A9	6536	genome.wustl.edu	37	1	44474088	44474088	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:44474088C>T	ENST00000360584.2	-	5	937	c.746G>A	c.(745-747)aGc>aAc	p.S249N	SLC6A9_ENST00000357730.2_Missense_Mutation_p.S195N|SLC6A9_ENST00000372306.3_Missense_Mutation_p.S176N|SLC6A9_ENST00000372307.3_Missense_Mutation_p.S111N|SLC6A9_ENST00000537678.1_Missense_Mutation_p.S111N|SLC6A9_ENST00000475075.2_Missense_Mutation_p.S65N|SLC6A9_ENST00000492434.2_5'Flank|SLC6A9_ENST00000372310.3_Missense_Mutation_p.S176N	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	249					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGAGAGGTTGCTGGGCAAGGC	0.652																																						dbGAP											0													80.0	87.0	85.0					1																	44474088		2203	4300	6503	-	-	-	SO:0001583	missense	0			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.746G>A	1.37:g.44474088C>T	ENSP00000353791:p.Ser249Asn		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.S249N	ENST00000360584.2	37	c.746	CCDS41317.1	1	.	.	.	.	.	.	.	.	.	.	C	7.979	0.750701	0.15778	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.76186	-1.0;-0.85;-0.74;-0.78;-0.8;-0.78;-0.94	5.73	3.69	0.42338	.	0.818033	0.11541	N	0.553757	T	0.60521	0.2275	N	0.08118	0	0.21184	N	0.999761	B;B;B;B;B;B	0.29432	0.0;0.244;0.014;0.0;0.0;0.0	B;B;B;B;B;B	0.41135	0.001;0.348;0.063;0.004;0.009;0.001	T	0.55010	-0.8207	10	0.25106	T	0.35	.	8.5807	0.33626	0.2089:0.705:0.0:0.0861	.	180;176;111;176;195;249	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	N	111;176;176;65;249;195;111	ENSP00000361381:S111N;ENSP00000361380:S176N;ENSP00000361384:S176N;ENSP00000434460:S65N;ENSP00000353791:S249N;ENSP00000350362:S195N;ENSP00000442523:S111N	ENSP00000350362:S195N	S	-	2	0	SLC6A9	44246675	0.379000	0.25123	0.682000	0.30024	0.581000	0.36288	0.938000	0.28965	1.451000	0.47736	-0.141000	0.14075	AGC	SLC6A9	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	ENSG00000196517		0.652	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	136	0.00	0	C	NM_201649		44474088	44474088	-1	no_errors	ENST00000360584	ensembl	human	known	69_37n	missense	115	13.43	18	SNP	0.444	T
SLC9C1	285335	genome.wustl.edu	37	3	112005610	112005610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:112005610delA	ENST00000305815.5	-	2	281	c.29delT	c.(28-30)ttcfs	p.F10fs	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Frame_Shift_Del_p.F10fs	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	10					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CTCAGTACTGAAAAAAAACTC	0.353																																						dbGAP											0													57.0	58.0	58.0					3																	112005610		2203	4297	6500	-	-	-	SO:0001589	frameshift_variant	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.29delT	3.37:g.112005610delA	ENSP00000306627:p.Phe10fs		Q6ZRP4|Q7RTP2	Frame_Shift_Del	DEL	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.F10fs	ENST00000305815.5	37	c.29	CCDS33817.1	3																																																																																			SLC9C1	-	NULL	ENSG00000172139		0.353	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	50	0.00	0	A	NM_183061		112005610	112005610	-1	no_errors	ENST00000305815	ensembl	human	known	69_37n	frame_shift_del	80	11.11	10	DEL	0.000	-
SMAP1	60682	genome.wustl.edu	37	6	71508378	71508378	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:71508378A>C	ENST00000370455.3	+	6	762	c.514A>C	c.(514-516)Aag>Cag	p.K172Q	SMAP1_ENST00000370452.3_Missense_Mutation_p.K145Q|SMAP1_ENST00000316999.5_Missense_Mutation_p.K145Q	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	172					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						ggaaaaaaaaaaggaagagaa	0.289																																						dbGAP											0													26.0	31.0	30.0					6																	71508378		2192	4270	6462	-	-	-	SO:0001583	missense	0			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.514A>C	6.37:g.71508378A>C	ENSP00000359484:p.Lys172Gln		Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,prints_ArfGAP,pfscan_ArfGAP	p.K172Q	ENST00000370455.3	37	c.514	CCDS43478.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.15|13.15	2.150824|2.150824	0.37923|0.37923	.|.	.|.	ENSG00000112305|ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455;ENST00000370442|ENST00000439432	T;T;T|T	0.25250|0.63096	2.13;2.11;1.81|-0.02	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.673120|0.673120	0.14847|0.14847	N|N	0.294925|0.294925	T|T	0.50222|0.50222	0.1603|0.1603	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	B;D;D;B|.	0.65815|.	0.069;0.995;0.99;0.069|.	B;D;P;B|.	0.63877|.	0.016;0.919;0.814;0.011|.	T|T	0.57780|0.57780	-0.7752|-0.7752	10|8	0.14656|0.87932	T|D	0.56|0	-6.764|-6.764	9.7017|9.7017	0.40192|0.40192	0.8255:0.1745:0.0:0.0|0.8255:0.1745:0.0:0.0	.|.	172;145;145;172|.	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5|.	.;.;.;SMAP1_HUMAN|.	Q|T	145;145;172;84|46	ENSP00000359481:K145Q;ENSP00000313382:K145Q;ENSP00000359484:K172Q|ENSP00000398306:K46T	ENSP00000313382:K145Q|ENSP00000398306:K46T	K|K	+|+	1|2	0|0	SMAP1|SMAP1	71565099|71565099	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.929000|4.929000	0.63455|0.63455	2.130000|2.130000	0.65690|0.65690	0.533000|0.533000	0.62120|0.62120	AAG|AAA	SMAP1	-	NULL	ENSG00000112305		0.289	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAP1	HGNC	protein_coding	OTTHUMT00000041149.1	138	0.00	0	A	NM_001044305		71508378	71508378	+1	no_errors	ENST00000370455	ensembl	human	known	69_37n	missense	112	46.41	97	SNP	1.000	C
SMC1A	8243	genome.wustl.edu	37	X	53423295	53423295	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:53423295A>T	ENST00000322213.4	-	18	2841	c.2714T>A	c.(2713-2715)aTg>aAg	p.M905K		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	905					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TAAATGGGTCATTTCCCTAAA	0.527																																						dbGAP											0													112.0	90.0	97.0					X																	53423295		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2714T>A	X.37:g.53423295A>T	ENSP00000323421:p.Met905Lys		O14995|Q16351|Q2M228	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.M905K	ENST00000322213.4	37	c.2714	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051633	0.55218	.	.	ENSG00000072501	ENST00000322213	T	0.76578	-1.03	4.87	4.87	0.63330	RecF/RecN/SMC (1);	0.132654	0.52532	D	0.000075	T	0.65943	0.2740	N	0.19112	0.55	0.80722	D	1	B	0.14438	0.01	B	0.20577	0.03	T	0.64803	-0.6321	10	0.87932	D	0	.	12.8034	0.57598	1.0:0.0:0.0:0.0	.	905	Q14683	SMC1A_HUMAN	K	905	ENSP00000323421:M905K	ENSP00000323421:M905K	M	-	2	0	SMC1A	53440020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.937000	0.70162	1.731000	0.51592	0.430000	0.28490	ATG	SMC1A	-	pfam_RecF/RecN/SMC	ENSG00000072501		0.527	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	218	0.00	0	A	NM_006306		53423295	53423295	-1	no_errors	ENST00000322213	ensembl	human	known	69_37n	missense	233	15.58	43	SNP	1.000	T
SMCR8	140775	genome.wustl.edu	37	17	18220114	18220114	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:18220114G>A	ENST00000406438.3	+	1	1491	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	337						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCCTGGCTCAGCTCAGCCACA	0.433																																						dbGAP											0													75.0	72.0	73.0					17																	18220114		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1011G>A	17.37:g.18220114G>A			A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	pfam_Folliculin	p.Q337	ENST00000406438.3	37	c.1011	CCDS11195.2	17																																																																																			SMCR8	-	NULL	ENSG00000176994		0.433	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2	91	0.00	0	G	NM_144775		18220114	18220114	+1	no_errors	ENST00000406438	ensembl	human	known	69_37n	silent	59	22.37	17	SNP	1.000	A
SMEK1	55671	genome.wustl.edu	37	14	91942312	91942312	+	Splice_Site	SNP	T	T	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:91942312T>G	ENST00000554943.1	-	7	1226		c.e7-2		SMEK1_ENST00000555462.1_Splice_Site|SMEK1_ENST00000337238.4_Splice_Site|SMEK1_ENST00000428424.2_Splice_Site|SMEK1_ENST00000554684.1_Splice_Site			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)						positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		ATCCATGCCCTGCAGACAAAA	0.348																																						dbGAP											0													77.0	72.0	74.0					14																	91942312		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1111-2A>C	14.37:g.91942312T>G			Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Splice_Site	SNP	-	e7-2	ENST00000554943.1	37	c.1111-2		14	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867763	0.72065	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390;ENST00000555029;ENST00000417249;ENST00000555470	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6202	0.76799	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMEK1	91012065	1.000000	0.71417	0.999000	0.59377	0.808000	0.45660	7.903000	0.87398	2.102000	0.63906	0.482000	0.46254	.	SMEK1	-	-	ENSG00000100796		0.348	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	108	0.00	0	T	NM_032560	Intron	91942312	91942312	-1	no_errors	ENST00000554943	ensembl	human	known	69_37n	splice_site	106	12.40	15	SNP	1.000	G
SNAP25	6616	genome.wustl.edu	37	20	10256204	10256204	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:10256204C>G	ENST00000254976.2	+	2	276	c.65C>G	c.(64-66)gCt>gGt	p.A22G	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.A22G	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	22	Interaction with CENPF. {ECO:0000250}.|t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GACCAGTTGGCTGATGAGGTA	0.562																																						dbGAP											0													88.0	80.0	83.0					20																	10256204		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.65C>G	20.37:g.10256204C>G	ENSP00000254976:p.Ala22Gly		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A22G	ENST00000254976.2	37	c.65	CCDS13110.1	20	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893828	0.72639	.	.	ENSG00000132639	ENST00000254976;ENST00000304886;ENST00000430336	.	.	.	6.08	6.08	0.98989	Target SNARE coiled-coil domain (2);	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	L	0.52573	1.65	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.57522	-0.7797	9	0.44086	T	0.13	-10.7104	20.6647	0.99678	0.0:1.0:0.0:0.0	.	22;22	P60880-2;P60880	.;SNP25_HUMAN	G	22	.	ENSP00000254976:A22G	A	+	2	0	SNAP25	10204204	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	7.168000	0.77570	2.890000	0.99128	0.655000	0.94253	GCT	SNAP25	-	smart_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000132639		0.562	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	HGNC	protein_coding	OTTHUMT00000077976.3	122	0.00	0	C	NM_130811		10256204	10256204	+1	no_errors	ENST00000254976	ensembl	human	known	69_37n	missense	93	32.12	44	SNP	1.000	G
SNRNP200	23020	genome.wustl.edu	37	2	96970585	96970585	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:96970585C>T	ENST00000323853.5	-	2	144	c.67G>A	c.(67-69)Gct>Act	p.A23T	AC021188.4_ENST00000421534.1_RNA|SNRNP200_ENST00000349783.5_Missense_Mutation_p.A23T	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	23					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GAACGGTCAGCTTGGAGCACA	0.517																																						dbGAP											0													58.0	53.0	55.0					2																	96970585		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.67G>A	2.37:g.96970585C>T	ENSP00000317123:p.Ala23Thr		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A23T	ENST00000323853.5	37	c.67	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615335	0.87359	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.42900	0.96;0.96	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.64404	1.975	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26430	-1.0103	10	0.38643	T	0.18	-9.4664	18.4682	0.90763	0.0:1.0:0.0:0.0	.	23	O75643	U520_HUMAN	T	23	ENSP00000317123:A23T;ENSP00000326937:A23T	ENSP00000317123:A23T	A	-	1	0	SNRNP200	96334312	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.667000	0.68067	2.658000	0.90341	0.563000	0.77884	GCT	SNRNP200	-	NULL	ENSG00000144028		0.517	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	64	0.00	0	C	NM_014014		96970585	96970585	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	missense	70	14.63	12	SNP	1.000	T
SNRPD2	6633	genome.wustl.edu	37	19	46190825	46190825	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:46190825T>C	ENST00000342669.3	-	3	787	c.343A>G	c.(343-345)Atc>Gtc	p.I115V	SNRPD2_ENST00000391932.3_Missense_Mutation_p.I105V|SNRPD2_ENST00000585392.1_Missense_Mutation_p.I51V|SNRPD2_ENST00000588301.1_Missense_Mutation_p.I115V|SNRPD2_ENST00000587367.1_Missense_Mutation_p.I105V|SNRPD2_ENST00000590212.1_3'UTR|SNRPD2_ENST00000588599.1_Missense_Mutation_p.I105V	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	115					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TTGCCGGCGATGAGCGGGTTC	0.537																																						dbGAP											0													80.0	70.0	74.0					19																	46190825		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"""snRNP core protein D2"""	601061	"""small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"""	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.343A>G	19.37:g.46190825T>C	ENSP00000342374:p.Ile115Val		A8K797|J3KPM5|P43330	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.I115V	ENST00000342669.3	37	c.343	CCDS33053.1	19	.	.	.	.	.	.	.	.	.	.	T	11.41	1.630139	0.28978	.	.	ENSG00000125743	ENST00000342669;ENST00000391932	.	.	.	5.92	4.9	0.64082	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.163044	0.52532	D	0.000065	T	0.41627	0.1167	L	0.38531	1.155	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	9	0.16420	T	0.52	.	6.4606	0.21954	0.0:0.0798:0.1566:0.7636	.	115	P62316	SMD2_HUMAN	V	115;105	.	ENSP00000342374:I115V	I	-	1	0	SNRPD2	50882665	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	4.386000	0.59620	1.055000	0.40461	0.533000	0.62120	ATC	SNRPD2	-	superfamily_LSM_dom	ENSG00000125743		0.537	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD2	HGNC	protein_coding	OTTHUMT00000459648.1	74	0.00	0	T	NM_004597		46190825	46190825	-1	no_errors	ENST00000342669	ensembl	human	known	69_37n	missense	80	25.93	28	SNP	1.000	C
SOS1	6654	genome.wustl.edu	37	2	39250249	39250249	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:39250249A>G	ENST00000426016.1	-	11	1406	c.1320T>C	c.(1318-1320)tgT>tgC	p.C440C	SOS1_ENST00000402219.2_Silent_p.C440C|SOS1_ENST00000395038.2_Silent_p.C440C|SOS1_ENST00000472480.1_5'UTR			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	440					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATTCATTACAACACTGTCCAA	0.363									Noonan syndrome																													dbGAP											0													121.0	110.0	113.0					2																	39250249		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1320T>C	2.37:g.39250249A>G			A8K2G3|B4DXG2	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.C440	ENST00000426016.1	37	c.1320	CCDS1802.1	2																																																																																			SOS1	-	NULL	ENSG00000115904		0.363	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	67	0.00	0	A	NM_005633		39250249	39250249	-1	no_errors	ENST00000402219	ensembl	human	known	69_37n	silent	77	14.44	13	SNP	1.000	G
SOX14	8403	genome.wustl.edu	37	3	137483947	137483947	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:137483947G>A	ENST00000306087.1	+	1	369	c.321G>A	c.(319-321)gcG>gcA	p.A107A		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	107					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						CGCTCAAGGCGGCTGGCCTGC	0.687																																						dbGAP											0													60.0	68.0	66.0					3																	137483947		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.321G>A	3.37:g.137483947G>A			B2RAC0|Q3KPH7	Silent	SNP	pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.A107	ENST00000306087.1	37	c.321	CCDS3094.1	3																																																																																			SOX14	-	NULL	ENSG00000168875		0.687	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX14	HGNC	protein_coding	OTTHUMT00000357182.1	50	0.00	0	G	NM_004189		137483947	137483947	+1	no_errors	ENST00000306087	ensembl	human	known	69_37n	silent	46	12.96	7	SNP	0.971	A
SPATA6	54558	genome.wustl.edu	37	1	48821396	48821396	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:48821396A>G	ENST00000371847.3	-	11	1304	c.1140T>C	c.(1138-1140)caT>caC	p.H380H	SPATA6_ENST00000371843.3_Silent_p.H380H|SPATA6_ENST00000396199.3_Silent_p.H308H	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	380					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTACCCGGTCATGGATCTCAT	0.294																																						dbGAP											0													100.0	101.0	101.0					1																	48821396		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1140T>C	1.37:g.48821396A>G			Q5T3N7|Q8WUE6	Silent	SNP	NULL	p.H380	ENST00000371847.3	37	c.1140	CCDS551.1	1																																																																																			SPATA6	-	NULL	ENSG00000132122		0.294	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	HGNC	protein_coding	OTTHUMT00000021347.1	158	0.00	0	A	NM_019073		48821396	48821396	-1	no_errors	ENST00000371847	ensembl	human	known	69_37n	silent	133	15.29	24	SNP	1.000	G
SPATA1	100505741	genome.wustl.edu	37	1	84986376	84986376	+	RNA	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:84986376C>T	ENST00000370638.2	+	0	408							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		ATTTCTAAGGCAAGTGTTGTG	0.303																																						dbGAP											0													64.0	59.0	61.0					1																	84986376		2200	4290	6490	-	-	-			0			AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84986376C>T			A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	Splice_Site	SNP	-	NULL	ENST00000370638.2	37	c.NULL		1																																																																																			SPATA1	-	-	ENSG00000122432		0.303	SPATA1-007	KNOWN	basic	processed_transcript	SPATA1	HGNC	pseudogene	OTTHUMT00000314701.1	116	0.00	0	C	NM_022354		84986376	84986376	+1	no_errors	ENST00000370638	ensembl	human	known	69_37n	splice_site	73	17.98	16	SNP	1.000	T
SPAG17	200162	genome.wustl.edu	37	1	118574360	118574360	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:118574360T>G	ENST00000336338.5	-	25	3629	c.3564A>C	c.(3562-3564)aaA>aaC	p.K1188N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1188						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAAGGGATTCTTTGGGTTTTT	0.388																																						dbGAP											0													203.0	201.0	202.0					1																	118574360		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3564A>C	1.37:g.118574360T>G	ENSP00000337804:p.Lys1188Asn		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.K1188N	ENST00000336338.5	37	c.3564	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.338514	0.60963	.	.	ENSG00000155761	ENST00000336338	T	0.29655	1.56	5.52	1.91	0.25777	.	0.679439	0.15400	N	0.264360	T	0.21921	0.0528	L	0.29908	0.895	0.26581	N	0.97339	D	0.67145	0.996	D	0.68039	0.955	T	0.04373	-1.0956	10	0.54805	T	0.06	.	8.1323	0.31035	0.0:0.3719:0.0:0.6281	.	1188	Q6Q759	SPG17_HUMAN	N	1188	ENSP00000337804:K1188N	ENSP00000337804:K1188N	K	-	3	2	SPAG17	118375883	0.987000	0.35691	0.996000	0.52242	0.875000	0.50365	0.269000	0.18589	0.396000	0.25283	0.533000	0.62120	AAA	SPAG17	-	NULL	ENSG00000155761		0.388	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	353	0.00	0	T	NM_206996		118574360	118574360	-1	no_errors	ENST00000336338	ensembl	human	known	69_37n	missense	387	20.53	100	SNP	0.967	G
SPHKAP	80309	genome.wustl.edu	37	2	228882606	228882606	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:228882606G>A	ENST00000392056.3	-	7	3010	c.2964C>T	c.(2962-2964)agC>agT	p.S988S	SPHKAP_ENST00000344657.5_Silent_p.S988S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	988						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S988R(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGCGGTCCCGCTCCCCTGGC	0.532																																						dbGAP											2	Substitution - Missense(2)	lung(2)											74.0	69.0	70.0					2																	228882606		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2964C>T	2.37:g.228882606G>A			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.S988	ENST00000392056.3	37	c.2964	CCDS46537.1	2																																																																																			SPHKAP	-	NULL	ENSG00000153820		0.532	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	64	0.00	0	G	NM_030623		228882606	228882606	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	silent	42	32.26	20	SNP	0.000	A
SPRED1	161742	genome.wustl.edu	37	15	38643500	38643500	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:38643500A>G	ENST00000299084.4	+	7	1830	c.970A>G	c.(970-972)Aaa>Gaa	p.K324E		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	324					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TAAGAAGTCAAAACGAAGAAA	0.408									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	dbGAP											0													71.0	70.0	70.0					15																	38643500		2200	4297	6497	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.970A>G	15.37:g.38643500A>G	ENSP00000299084:p.Lys324Glu		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1	p.K324E	ENST00000299084.4	37	c.970	CCDS32193.1	15	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593729	0.66219	.	.	ENSG00000166068	ENST00000299084	D	0.85629	-2.01	6.01	6.01	0.97437	.	0.044547	0.85682	D	0.000000	D	0.83959	0.5367	L	0.54323	1.7	0.43693	D	0.996146	P	0.48764	0.915	B	0.44224	0.444	T	0.82750	-0.0303	10	0.29301	T	0.29	-15.8108	16.5744	0.84633	1.0:0.0:0.0:0.0	.	324	Q7Z699	SPRE1_HUMAN	E	324	ENSP00000299084:K324E	ENSP00000299084:K324E	K	+	1	0	SPRED1	36430792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.359000	0.59449	2.312000	0.78011	0.514000	0.50259	AAA	SPRED1	-	NULL	ENSG00000166068		0.408	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	HGNC	protein_coding	OTTHUMT00000418217.1	83	0.00	0	A			38643500	38643500	+1	no_errors	ENST00000299084	ensembl	human	known	69_37n	missense	44	25.42	15	SNP	1.000	G
SPTBN1	6711	genome.wustl.edu	37	2	54858526	54858526	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:54858526C>T	ENST00000356805.4	+	16	3623	c.3342C>T	c.(3340-3342)taC>taT	p.Y1114Y	SPTBN1_ENST00000333896.5_Silent_p.Y1101Y	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1114					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCGACAACTACGAGGAGGACT	0.602																																						dbGAP											0													183.0	150.0	161.0					2																	54858526		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3342C>T	2.37:g.54858526C>T			B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Y1114	ENST00000356805.4	37	c.3342	CCDS33198.1	2																																																																																			SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000115306		0.602	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	64	0.00	0	C			54858526	54858526	+1	no_errors	ENST00000356805	ensembl	human	known	69_37n	silent	70	16.67	14	SNP	0.046	T
SPTBN2	6712	genome.wustl.edu	37	11	66458881	66458881	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:66458881G>A	ENST00000533211.1	-	27	5770	c.5439C>T	c.(5437-5439)gcC>gcT	p.A1813A	SPTBN2_ENST00000529997.1_Silent_p.A1813A|SPTBN2_ENST00000309996.2_Silent_p.A1813A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1813					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCGCGCCAGGGCTTGGCGTG	0.706																																						dbGAP											0													35.0	34.0	34.0					11																	66458881		2198	4293	6491	-	-	-	SO:0001819	synonymous_variant	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5439C>T	11.37:g.66458881G>A			O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	p.A1813	ENST00000533211.1	37	c.5439	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.706	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	16	0.00	0	G	NM_006946		66458881	66458881	-1	no_errors	ENST00000309996	ensembl	human	known	69_37n	silent	22	31.25	10	SNP	0.999	A
SPTBN4	57731	genome.wustl.edu	37	19	41063061	41063061	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:41063061T>A	ENST00000352632.3	+	26	5508	c.5422T>A	c.(5422-5424)Tgg>Agg	p.W1808R	SPTBN4_ENST00000392025.1_Missense_Mutation_p.W551R|SPTBN4_ENST00000595535.1_Missense_Mutation_p.W1808R|SPTBN4_ENST00000598249.1_Missense_Mutation_p.W1808R|SPTBN4_ENST00000338932.3_Missense_Mutation_p.W1808R|SPTBN4_ENST00000392023.1_Missense_Mutation_p.W484R			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1808					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATGGCCGAGTGGAAGGACGG	0.632																																						dbGAP											0													37.0	37.0	37.0					19																	41063061		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5422T>A	19.37:g.41063061T>A	ENSP00000263373:p.Trp1808Arg		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.W1808R	ENST00000352632.3	37	c.5422	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808500	0.70797	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	3.49	3.49	0.39957	.	0.000000	0.64402	D	0.000008	T	0.48187	0.1486	L	0.42008	1.315	0.46725	D	0.999173	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.979;0.996;1.0	T	0.46233	-0.9206	10	0.05721	T	0.95	.	11.4128	0.49935	0.0:0.0:0.0:1.0	.	551;484;1808;1808	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	R	1808;1808;1808;551;484	ENSP00000263373:W1808R;ENSP00000340345:W1808R;ENSP00000375879:W551R;ENSP00000375877:W484R	ENSP00000340345:W1808R	W	+	1	0	SPTBN4	45754901	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.613000	0.82986	1.585000	0.49928	0.374000	0.22700	TGG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	36	0.00	0	T			41063061	41063061	+1	no_errors	ENST00000352632	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	1.000	A
SRGAP2	23380	genome.wustl.edu	37	1	206611317	206611317	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:206611317A>T	ENST00000419187.2	+	0	1215				SRGAP2_ENST00000414007.1_Missense_Mutation_p.E406V			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2						actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCCTCAGGAGAGGACCCCCTG	0.557																																						dbGAP											0													88.0	91.0	90.0					1																	206611317		1913	4119	6032	-	-	-			0			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000419187.2:c.-449A>T	1.37:g.206611317A>T				Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R459S	ENST00000419187.2	37	c.1377		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.6|29.6	5.023139|5.023139	0.93462|0.93462	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000414359;ENST00000414007;ENST00000439126|ENST00000295713	T;T|.	0.19669|.	2.13;2.13|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73497|0.73497	0.3594|0.3594	.|.	.|.	.|.	0.58432|.	D|.	0.999991|.	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.75020|.	0.961;0.985|.	T|T	0.73279|0.73279	-0.4033|-0.4033	8|3	0.87932|.	D|.	0|.	.|.	16.5582|16.5582	0.84512|0.84512	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	393;546|.	B4DDU0;O75044|.	.;FNBP2_HUMAN|.	V|S	459;406;160|459	ENSP00000390898:E406V;ENSP00000403036:E160V|.	ENSP00000390898:E406V|.	E|R	+|+	2|3	0|2	SRGAP2|SRGAP2	204677940|204677940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.339000|9.339000	0.96797|0.96797	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	GAG|AGA	SRGAP2	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000163486		0.557	SRGAP2-202	KNOWN	basic	protein_coding	SRGAP2	HGNC	protein_coding		91	0.00	0	A	NM_015326		206611317	206611317	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000295713	ensembl	human	known	69_37n	missense	99	13.91	16	SNP	1.000	T
SRL	6345	genome.wustl.edu	37	16	4242567	4242567	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:4242567C>T	ENST00000399609.3	-	6	1021	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	SRL_ENST00000537996.1_Missense_Mutation_p.A295T	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	796	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						ACCCGGATGGCGTGCTGGCGG	0.517																																						dbGAP											0													131.0	139.0	136.0					16																	4242567		2120	4234	6354	-	-	-	SO:0001583	missense	0			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.1009G>A	16.37:g.4242567C>T	ENSP00000382518:p.Ala337Thr			Missense_Mutation	SNP	pfam_Dynamin_GTPase,pfam_GTP_binding_domain	p.A337T	ENST00000399609.3	37	c.1009	CCDS42113.1	16	.	.	.	.	.	.	.	.	.	.	C	31	5.085512	0.94100	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.81579	-1.51;-1.51	5.44	5.44	0.79542	.	0.067117	0.64402	U	0.000015	D	0.86426	0.5930	M	0.79926	2.475	0.80722	D	1	D	0.63880	0.993	P	0.49637	0.617	D	0.87937	0.2714	10	0.62326	D	0.03	-16.552	19.4587	0.94906	0.0:1.0:0.0:0.0	.	337	Q86TD4-2	.	T	337;795;295	ENSP00000382518:A337T;ENSP00000440350:A295T	ENSP00000333285:A795T	A	-	1	0	SRL	4182568	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	7.651000	0.83577	2.828000	0.97474	0.655000	0.94253	GCC	SRL	-	NULL	ENSG00000185739		0.517	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRL	HGNC	protein_coding	OTTHUMT00000438087.1	116	0.00	0	C	XM_064152		4242567	4242567	-1	no_errors	ENST00000399609	ensembl	human	known	69_37n	missense	88	10.20	10	SNP	1.000	T
SSC5D	284297	genome.wustl.edu	37	19	56024386	56024386	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:56024386G>T	ENST00000389623.6	+	13	2817	c.2794G>T	c.(2794-2796)Gat>Tat	p.D932Y		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	932					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						AGGCAGCAAAGATGGTTACAA	0.577																																						dbGAP											0													44.0	43.0	43.0					19																	56024386		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.2794G>T	19.37:g.56024386G>T	ENSP00000374274:p.Asp932Tyr		B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.D932Y	ENST00000389623.6	37	c.2794	CCDS46196.1	19	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779768	0.31502	.	.	ENSG00000179954	ENST00000389623	T	0.01538	4.79	2.89	0.694	0.18062	.	.	.	.	.	T	0.02119	0.0066	L	0.51422	1.61	0.09310	N	1	P	0.50943	0.94	B	0.41571	0.36	T	0.47799	-0.9089	9	0.66056	D	0.02	.	4.9879	0.14200	0.2963:0.0:0.7037:0.0	.	932	A1L4H1	SRCRL_HUMAN	Y	932	ENSP00000374274:D932Y	ENSP00000374274:D932Y	D	+	1	0	SSC5D	60716198	0.003000	0.15002	0.000000	0.03702	0.028000	0.11728	0.852000	0.27764	0.266000	0.21894	0.579000	0.79373	GAT	SSC5D	-	NULL	ENSG00000179954		0.577	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	39	0.00	0	G	XM_001718392		56024386	56024386	+1	no_errors	ENST00000389623	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	0.000	T
STAG2	10735	genome.wustl.edu	37	X	123196825	123196825	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:123196825T>C	ENST00000371160.1	+	18	2002	c.1712T>C	c.(1711-1713)cTt>cCt	p.L571P	STAG2_ENST00000371144.3_Missense_Mutation_p.L571P|STAG2_ENST00000371145.3_Missense_Mutation_p.L571P|STAG2_ENST00000354548.5_Missense_Mutation_p.L502P|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.L571P|STAG2_ENST00000371157.3_Missense_Mutation_p.L571P	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	571					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCCGTGGCCCTTCCTCAGTTA	0.358																																						dbGAP											0													102.0	91.0	95.0					X																	123196825		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1712T>C	X.37:g.123196825T>C	ENSP00000360202:p.Leu571Pro		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.L571P	ENST00000371160.1	37	c.1712	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424882	0.83667	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.87971	2.92	0.80722	D	1	D;P	0.89917	1.0;0.864	D;B	0.85130	0.997;0.38	T	0.55431	-0.8142	9	.	.	.	-16.0432	15.0686	0.72017	0.0:0.0:0.0:1.0	.	571;571	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	P	571;502;571;571;571;571	ENSP00000218089:L571P;ENSP00000346555:L502P;ENSP00000360202:L571P;ENSP00000360199:L571P;ENSP00000360187:L571P;ENSP00000360186:L571P	.	L	+	2	0	STAG2	123024506	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	8.039000	0.88947	1.941000	0.56285	0.441000	0.28932	CTT	STAG2	-	superfamily_ARM-type_fold	ENSG00000101972		0.358	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	126	0.00	0	T	NM_006603		123196825	123196825	+1	no_errors	ENST00000218089	ensembl	human	known	69_37n	missense	156	14.75	27	SNP	1.000	C
STARD9	57519	genome.wustl.edu	37	15	42976644	42976644	+	Silent	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:42976644T>A	ENST00000290607.7	+	23	2925	c.2868T>A	c.(2866-2868)gcT>gcA	p.A956A		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	956					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						GGAAATCAGCTAACAAACTAA	0.532																																						dbGAP											0													55.0	46.0	49.0					15																	42976644		692	1590	2282	-	-	-	SO:0001819	synonymous_variant	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.2868T>A	15.37:g.42976644T>A			Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Silent	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A956	ENST00000290607.7	37	c.2868	CCDS53935.1	15																																																																																			STARD9	-	NULL	ENSG00000159433		0.532	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	43	0.00	0	T			42976644	42976644	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	silent	18	28.00	7	SNP	0.001	A
STAT5A	6776	genome.wustl.edu	37	17	40458442	40458442	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:40458442G>A	ENST00000345506.4	+	14	2299	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	STAT5A_ENST00000588868.1_Missense_Mutation_p.V522M|STAT5A_ENST00000546010.2_Missense_Mutation_p.V523M|STAT5A_ENST00000587646.1_Missense_Mutation_p.V41M|STAT5A_ENST00000452307.2_Missense_Mutation_p.V553M|STAT5A_ENST00000590949.1_Missense_Mutation_p.V553M	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	553					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGGCCTGTCCGTGTCCTGGTC	0.632																																						dbGAP											0													60.0	47.0	51.0					17																	40458442		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1657G>A	17.37:g.40458442G>A	ENSP00000341208:p.Val553Met		Q1KLZ6	Missense_Mutation	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,smart_SH2,pfscan_SH2	p.V553M	ENST00000345506.4	37	c.1657	CCDS11424.1	17	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569037	0.65765	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.89746	-2.56;-2.56;-2.56	4.64	3.64	0.41730	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.186893	0.48286	D	0.000196	D	0.90933	0.7150	L	0.52364	1.645	0.51767	D	0.999935	D;P;P;P;P	0.55385	0.971;0.664;0.895;0.711;0.895	P;B;B;B;P	0.61722	0.893;0.328;0.422;0.36;0.527	D	0.90457	0.4443	10	0.45353	T	0.12	-40.5365	13.5789	0.61890	0.0801:0.0:0.9199:0.0	.	553;553;523;524;553	A8K6I5;Q8WWS9;Q1KLZ6;Q59GY7;P42229	.;.;.;.;STA5A_HUMAN	M	553;523;524;553	ENSP00000341208:V553M;ENSP00000443107:V523M;ENSP00000400320:V553M	ENSP00000341208:V553M	V	+	1	0	STAT5A	37711968	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.974000	0.70465	2.289000	0.77006	0.555000	0.69702	GTG	STAT5A	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000126561		0.632	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	HGNC	protein_coding	OTTHUMT00000319804.1	73	0.00	0	G	NM_003152		40458442	40458442	+1	no_errors	ENST00000345506	ensembl	human	known	69_37n	missense	73	25.00	25	SNP	0.987	A
SUPT5H	6829	genome.wustl.edu	37	19	39963851	39963851	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:39963851G>A	ENST00000599117.1	+	25	2634	c.2267G>A	c.(2266-2268)cGg>cAg	p.R756Q	SUPT5H_ENST00000598725.1_Missense_Mutation_p.R756Q|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R752Q|SUPT5H_ENST00000432763.2_Missense_Mutation_p.R756Q|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R752Q			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	756	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGGCTCACGGCGCCCGGGC	0.672																																						dbGAP											0													43.0	49.0	47.0					19																	39963851		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2267G>A	19.37:g.39963851G>A	ENSP00000470252:p.Arg756Gln		O43279|Q59G52|Q99639	Missense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5	p.R756Q	ENST00000599117.1	37	c.2267	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	G	4.491	0.091077	0.08632	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.62	1.19	0.21007	.	0.261593	0.31188	N	0.008097	T	0.35068	0.0919	L	0.29908	0.895	0.35557	D	0.804344	B;B;B	0.20459	0.021;0.045;0.024	B;B;B	0.23419	0.013;0.045;0.046	T	0.22591	-1.0212	8	.	.	.	-6.8376	7.9732	0.30140	0.2853:0.0:0.7147:0.0	.	548;752;756	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	Q	756;752;734;756	.	.	R	+	2	0	SUPT5H	44655691	1.000000	0.71417	0.998000	0.56505	0.225000	0.24961	3.093000	0.50217	0.018000	0.15052	-0.259000	0.10710	CGG	SUPT5H	-	pirsf_TF_Spt5	ENSG00000196235		0.672	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	30	0.00	0	G	NM_003169		39963851	39963851	+1	no_errors	ENST00000359191	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	0.994	A
SUV39H1	6839	genome.wustl.edu	37	X	48558624	48558624	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:48558624G>A	ENST00000376687.3	+	3	498	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	SUV39H1_ENST00000453214.2_Silent_p.P40P|SUV39H1_ENST00000337852.6_Missense_Mutation_p.R114Q|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	103					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CGGCACCACCGGTCAAAGACC	0.617																																						dbGAP											0													23.0	19.0	20.0					X																	48558624		2196	4293	6489	-	-	-	SO:0001583	missense	0			AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.308G>A	X.37:g.48558624G>A	ENSP00000365877:p.Arg103Gln		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow	p.R114Q	ENST00000376687.3	37	c.341	CCDS14304.1	X	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040499	0.35989	.	.	ENSG00000101945	ENST00000337852;ENST00000376687	D;D	0.94417	-3.42;-3.41	4.82	3.95	0.45737	.	0.206521	0.39834	N	0.001244	D	0.86397	0.5923	L	0.40543	1.245	0.22081	N	0.999373	B;P	0.39964	0.452;0.697	B;B	0.24701	0.037;0.055	T	0.76958	-0.2766	10	0.10902	T	0.67	.	9.2093	0.37309	0.1089:0.0:0.8911:0.0	.	114;103	B4DST0;O43463	.;SUV91_HUMAN	Q	114;103	ENSP00000337976:R114Q;ENSP00000365877:R103Q	ENSP00000337976:R114Q	R	+	2	0	SUV39H1	48443568	0.000000	0.05858	0.619000	0.29118	0.957000	0.61999	0.595000	0.24029	1.972000	0.57404	0.502000	0.49764	CGG	SUV39H1	-	pirsf_Histone_H3-K9_MeTrfase	ENSG00000101945		0.617	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV39H1	HGNC	protein_coding	OTTHUMT00000058909.1	19	0.00	0	G	NM_003173		48558624	48558624	+1	no_errors	ENST00000337852	ensembl	human	known	69_37n	missense	9	50.00	9	SNP	0.005	A
SUV420H1	51111	genome.wustl.edu	37	11	67925721	67925723	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:67925721_67925723delTCT	ENST00000304363.4	-	11	2443_2445	c.2090_2092delAGA	c.(2089-2094)aagagg>agg	p.K697del		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	697					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTGATTCGCCTCTTCTTTTTACT	0.414																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2090_2092delAGA	11.37:g.67925724_67925726delTCT	ENSP00000305899:p.Lys697del		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	In_Frame_Del	DEL	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.K697in_frame_del	ENST00000304363.4	37	c.2092_2090	CCDS31623.1	11																																																																																			SUV420H1	-	NULL	ENSG00000110066		0.414	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	281	0.00	0	TCT	NM_017635		67925721	67925723	-1	no_errors	ENST00000304363	ensembl	human	known	69_37n	in_frame_del	284	10.06	32	DEL	0.997:0.998:1.000	-
SVEP1	79987	genome.wustl.edu	37	9	113212424	113212424	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:113212424T>C	ENST00000401783.2	-	24	4354	c.4018A>G	c.(4018-4020)Acc>Gcc	p.T1340A	SVEP1_ENST00000374469.1_Missense_Mutation_p.T1317A|SVEP1_ENST00000302728.8_Missense_Mutation_p.T1340A|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1340	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCACATCGGGTACCCAAAAAT	0.463																																						dbGAP											0													233.0	217.0	222.0					9																	113212424		1888	4110	5998	-	-	-	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4018A>G	9.37:g.113212424T>C	ENSP00000384917:p.Thr1340Ala		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.T1340A	ENST00000401783.2	37	c.4018	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	T	9.745	1.165958	0.21538	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.91407	-2.84;-2.84;-2.84	5.44	3.11	0.35812	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.456782	0.26140	N	0.026112	D	0.82572	0.5066	L	0.39467	1.215	0.25602	N	0.986582	B;B	0.26002	0.139;0.011	B;B	0.28465	0.09;0.014	T	0.65030	-0.6267	10	0.08837	T	0.75	.	6.7748	0.23615	0.0:0.277:0.0:0.723	.	1340;1340	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	A	1340;1317;1340	ENSP00000384917:T1340A;ENSP00000363593:T1317A;ENSP00000304118:T1340A	ENSP00000304118:T1340A	T	-	1	0	SVEP1	112252245	0.927000	0.31430	0.993000	0.49108	0.950000	0.60333	0.766000	0.26560	1.008000	0.39264	0.477000	0.44152	ACC	SVEP1	-	smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000165124		0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		99	0.00	0	T			113212424	113212424	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	missense	55	25.33	19	SNP	0.906	C
SVIL	6840	genome.wustl.edu	37	10	29759278	29759278	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:29759278G>T	ENST00000355867.4	-	32	6522	c.5770C>A	c.(5770-5772)Ctg>Atg	p.L1924M	SVIL_ENST00000375398.2_Missense_Mutation_p.L1924M|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.L1498M|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.L838M|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000455774.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1924					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCGTGCCACAGGTAGATGAGG	0.577																																						dbGAP											0													195.0	162.0	173.0					10																	29759278		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5770C>A	10.37:g.29759278G>T	ENSP00000348128:p.Leu1924Met		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.L1924M	ENST00000355867.4	37	c.5770	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949421	0.73787	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.49139	0.79;0.79;0.79;1.0	5.61	2.63	0.31362	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.79343	2.45	0.80722	D	1	D;P;P	0.76494	0.999;0.946;0.955	D;P;P	0.76071	0.987;0.881;0.832	T	0.65253	-0.6213	10	0.87932	D	0	-6.5029	9.7857	0.40675	0.2889:0.0:0.7111:0.0	.	838;1498;1924	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	M	1498;1924;1924;838	ENSP00000364549:L1498M;ENSP00000364547:L1924M;ENSP00000348128:L1924M;ENSP00000445472:L838M	ENSP00000348128:L1924M	L	-	1	2	SVIL	29799284	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.243000	0.51392	0.258000	0.21686	0.650000	0.86243	CTG	SVIL	-	smart_Gelsolin	ENSG00000197321		0.577	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	142	0.00	0	G			29759278	29759278	-1	no_errors	ENST00000355867	ensembl	human	known	69_37n	missense	145	18.54	33	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152532698	152532698	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:152532698C>T	ENST00000367255.5	-	124	23121	c.22520G>A	c.(22519-22521)cGt>cAt	p.R7507H	SYNE1_ENST00000341594.5_Missense_Mutation_p.R7119H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7507H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2031H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7436H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7436H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7507					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R7507H(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCTGCTGACGACTGAACAT	0.333										HNSCC(10;0.0054)																												dbGAP											2	Substitution - Missense(2)	large_intestine(2)											85.0	83.0	84.0					6																	152532698		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22520G>A	6.37:g.152532698C>T	ENSP00000356224:p.Arg7507His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R7507H	ENST00000367255.5	37	c.22520	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968388	0.92855	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000009	T	0.51176	0.1659	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.46735	-0.9170	10	0.52906	T	0.07	.	20.0274	0.97527	0.0:1.0:0.0:0.0	.	7507;7507;7436;7436	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	H	7507;153;7436;7507;7436;7119;2031;429	ENSP00000356224:R7507H;ENSP00000356226:R153H;ENSP00000396024:R7436H;ENSP00000265368:R7507H;ENSP00000390975:R7436H;ENSP00000341887:R7119H;ENSP00000349276:R2031H;ENSP00000356220:R429H	ENSP00000265368:R7507H	R	-	2	0	SYNE1	152574391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.721000	0.84768	2.798000	0.96311	0.557000	0.71058	CGT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.333	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	84	0.00	0	C	NM_182961		152532698	152532698	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	63	14.86	11	SNP	1.000	T
SYNJ2	8871	genome.wustl.edu	37	6	158508009	158508009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:158508009delC	ENST00000355585.4	+	23	3406	c.3331delC	c.(3331-3333)cccfs	p.P1114fs	SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs|SYNJ2_ENST00000367122.2_Intron	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1114	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCGCAGAGACCCCCCCCTCC	0.637																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											31.0	35.0	34.0					6																	158508009		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3331delC	6.37:g.158508009delC	ENSP00000347792:p.Pro1114fs		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Frame_Shift_Del	DEL	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.P1113fs	ENST00000355585.4	37	c.3331	CCDS5254.1	6																																																																																			SYNJ2	-	NULL	ENSG00000078269		0.637	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	29	0.00	0	C			158508009	158508009	+1	no_errors	ENST00000355585	ensembl	human	known	69_37n	frame_shift_del	21	27.59	8	DEL	1.000	-
SYNPR	132204	genome.wustl.edu	37	3	63466556	63466556	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:63466556C>T	ENST00000295894.5	+	2	442	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000465156.1_Silent_p.L25L|SYNPR_ENST00000478300.1_Silent_p.L45L|SYNPR_ENST00000479198.1_Silent_p.L25L|SYNPR_ENST00000460711.1_Silent_p.L36L|SYNPR-AS1_ENST00000488201.1_RNA	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	25	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TTCTGGAGGCCTGCGGCTGAG	0.463																																					NSCLC(29;1052 1116 20025 32519)	dbGAP											0													158.0	163.0	161.0					3																	63466556		1999	4166	6165	-	-	-	SO:0001819	synonymous_variant	0			AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.73C>T	3.37:g.63466556C>T			B2R675|G5E9W4	Missense_Mutation	SNP	NULL	p.P39L	ENST00000295894.5	37	c.116	CCDS46860.1	3																																																																																			SYNPR	-	NULL	ENSG00000163630		0.463	SYNPR-004	KNOWN	basic|CCDS	protein_coding	SYNPR	HGNC	protein_coding	OTTHUMT00000351787.1	113	0.00	0	C			63466556	63466556	+1	no_errors	ENST00000472899	ensembl	human	known	69_37n	missense	106	13.11	16	SNP	1.000	T
SYT16	83851	genome.wustl.edu	37	14	62567180	62567180	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:62567180C>T	ENST00000430451.2	+	6	1890	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	RP11-355I22.2_ENST00000554252.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	565	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)			p.R545R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GACGTCCATTCGGCGTGGTCA	0.458																																						dbGAP											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											70.0	66.0	67.0					14																	62567180		1925	4122	6047	-	-	-	SO:0001583	missense	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1693C>T	14.37:g.62567180C>T	ENSP00000394700:p.Arg565Trp		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R565W	ENST00000430451.2	37	c.1693	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432176	0.83776	.	.	ENSG00000139973	ENST00000430451	T	0.72394	-0.65	5.61	4.69	0.59074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86213	0.5879	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88749	0.3249	10	0.87932	D	0	-0.2476	15.9397	0.79745	0.1354:0.8646:0.0:0.0	.	565	Q17RD7	SYT16_HUMAN	W	565	ENSP00000394700:R565W	ENSP00000394700:R565W	R	+	1	2	SYT16	61636933	1.000000	0.71417	0.983000	0.44433	0.970000	0.65996	3.680000	0.54641	2.636000	0.89361	0.655000	0.94253	CGG	SYT16	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000139973		0.458	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	113	0.00	0	C	NM_031914		62567180	62567180	+1	no_errors	ENST00000430451	ensembl	human	novel	69_37n	missense	98	20.97	26	SNP	1.000	T
SYT6	148281	genome.wustl.edu	37	1	114646335	114646335	+	Silent	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:114646335C>A	ENST00000610222.1	-	4	1226	c.1080G>T	c.(1078-1080)gtG>gtT	p.V360V	SYT6_ENST00000393296.1_Silent_p.V360V|SYT6_ENST00000369547.1_Silent_p.V275V|SYT6_ENST00000609117.1_Silent_p.V275V|SYT6_ENST00000607941.1_Silent_p.V275V			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	360					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCCAAGTCCACGCTTTCCT	0.567																																						dbGAP											0													101.0	70.0	80.0					1																	114646335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1080G>T	1.37:g.114646335C>A			B1AMB8|B3KPK1	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.V360	ENST00000610222.1	37	c.1080		1																																																																																			SYT6	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000134207		0.567	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	48	0.00	0	C	NM_205848		114646335	114646335	-1	no_errors	ENST00000369545	ensembl	human	known	69_37n	silent	36	20.00	9	SNP	1.000	A
TACO1	51204	genome.wustl.edu	37	17	61685293	61685293	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:61685293G>C	ENST00000258975.6	+	5	1037	c.825G>C	c.(823-825)caG>caC	p.Q275H		NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I	275					regulation of translation (GO:0006417)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)	4						ACCTGGAACAGGCCGCACATC	0.542																																						dbGAP											0													108.0	93.0	98.0					17																	61685293		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005049	CCDS11640.1	17q23.3	2009-06-26	2009-06-26	2009-06-26		ENSG00000136463			24316	protein-coding gene	gene with protein product		612958	"""coiled-coil domain containing 44"""	CCDC44		19503089	Standard	NM_016360		Approved		uc002jbd.3	Q9BSH4		ENST00000258975.6:c.825G>C	17.37:g.61685293G>C	ENSP00000258975:p.Gln275His		B2RD21|Q8N3N6|Q9UI60	Missense_Mutation	SNP	pfam_Transcrip_reg_TACO1-like,superfamily_Transcrip_reg_TACO1-like	p.Q275H	ENST00000258975.6	37	c.825	CCDS11640.1	17	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714812	0.30413	.	.	ENSG00000136463	ENST00000258975	T	0.45276	0.9	5.08	2.97	0.34412	.	0.372856	0.30620	N	0.009240	T	0.38268	0.1034	M	0.75777	2.31	0.42246	D	0.991957	P	0.35527	0.507	B	0.33568	0.166	T	0.42999	-0.9418	10	0.87932	D	0	-11.1448	5.4701	0.16666	0.3103:0.0:0.6897:0.0	.	275	Q9BSH4	TACO1_HUMAN	H	275	ENSP00000258975:Q275H	ENSP00000258975:Q275H	Q	+	3	2	TACO1	59039025	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	1.783000	0.38664	1.363000	0.46019	0.561000	0.74099	CAG	TACO1	-	pfam_Transcrip_reg_TACO1-like,superfamily_Transcrip_reg_TACO1-like	ENSG00000136463		0.542	TACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACO1	HGNC	protein_coding	OTTHUMT00000443862.1	108	0.00	0	G	NM_016360		61685293	61685293	+1	no_errors	ENST00000258975	ensembl	human	known	69_37n	missense	91	45.24	76	SNP	0.994	C
TAPT1	202018	genome.wustl.edu	37	4	16165061	16165061	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:16165061T>C	ENST00000405303.2	-	14	1657	c.1574A>G	c.(1573-1575)cAg>cGg	p.Q525R	TAPT1_ENST00000304584.8_3'UTR|TAPT1_ENST00000399920.3_Missense_Mutation_p.Q414R	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	525					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TGTCAAAAACTGATCAGAATT	0.393																																						dbGAP											0													175.0	168.0	170.0					4																	16165061		1900	4134	6034	-	-	-	SO:0001583	missense	0			AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1574A>G	4.37:g.16165061T>C	ENSP00000385347:p.Gln525Arg		Q8N2S3|Q9NZK9	Missense_Mutation	SNP	pfam_Membrane_Tatp1/CMV_rcpt	p.Q525R	ENST00000405303.2	37	c.1574	CCDS47030.1	4	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995075	0.35226	.	.	ENSG00000169762	ENST00000405303;ENST00000542770;ENST00000399920	T;T	0.31769	1.48;1.52	5.94	5.94	0.96194	.	0.207795	0.50627	D	0.000110	T	0.22322	0.0538	N	0.24115	0.695	0.80722	D	1	B	0.26318	0.146	B	0.24974	0.057	T	0.07366	-1.0776	10	0.14252	T	0.57	-16.916	16.3951	0.83601	0.0:0.0:0.0:1.0	.	525	Q6NXT6	TAPT1_HUMAN	R	525;525;414	ENSP00000385347:Q525R;ENSP00000382803:Q414R	ENSP00000382803:Q414R	Q	-	2	0	TAPT1	15774159	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	4.586000	0.60984	2.272000	0.75746	0.460000	0.39030	CAG	TAPT1	-	NULL	ENSG00000169762		0.393	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPT1	HGNC	protein_coding	OTTHUMT00000359568.1	212	0.00	0	T	NM_153365		16165061	16165061	-1	no_errors	ENST00000405303	ensembl	human	known	69_37n	missense	194	19.50	47	SNP	1.000	C
TATDN2	9797	genome.wustl.edu	37	3	10302031	10302031	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:10302031C>T	ENST00000287652.4	+	3	1676	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.R209W	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	209					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGCTGCCACTCGGGCAAAACC	0.572																																						dbGAP											0													48.0	50.0	49.0					3																	10302031		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.625C>T	3.37:g.10302031C>T	ENSP00000287652:p.Arg209Trp		Q3MIL9|Q5BKU0	Missense_Mutation	SNP	pfam_TatD_superfamily	p.R209W	ENST00000287652.4	37	c.625	CCDS33698.1	3	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143544	0.57044	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.25085	1.82;1.82	4.85	-8.51	0.00923	.	1.121660	0.06982	N	0.820054	T	0.19685	0.0473	L	0.44542	1.39	0.09310	N	1	D	0.63046	0.992	B	0.40534	0.332	T	0.44952	-0.9294	10	0.66056	D	0.02	-6.6528	14.3324	0.66566	0.1832:0.7413:0.0755:0.0	.	209	Q93075	TATD2_HUMAN	W	209	ENSP00000287652:R209W;ENSP00000408736:R209W	ENSP00000287652:R209W	R	+	1	2	TATDN2	10277031	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.789000	0.01761	-1.514000	0.01786	-0.266000	0.10368	CGG	TATDN2	-	NULL	ENSG00000157014		0.572	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1	33	0.00	0	C	XM_376203		10302031	10302031	+1	no_errors	ENST00000287652	ensembl	human	known	69_37n	missense	17	59.09	26	SNP	0.000	T
TATDN3	128387	genome.wustl.edu	37	1	212968443	212968443	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:212968443G>A	ENST00000366974.4	+	2	167	c.73G>A	c.(73-75)Gat>Aat	p.D25N	TATDN3_ENST00000531963.1_Missense_Mutation_p.D25N|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000366973.4_Missense_Mutation_p.D25N|TATDN3_ENST00000530441.1_Missense_Mutation_p.D25N|TATDN3_ENST00000526641.1_Missense_Mutation_p.D25N|TATDN3_ENST00000532324.1_Missense_Mutation_p.D25N|TATDN3_ENST00000526997.1_Missense_Mutation_p.D25N	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	25					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		TTAGGATTTGGATGATGTGTT	0.308																																						dbGAP											0													202.0	184.0	190.0					1																	212968443		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.73G>A	1.37:g.212968443G>A	ENSP00000355941:p.Asp25Asn		A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Nonsense_Mutation	SNP	pfam_TatD_superfamily	p.W23*	ENST00000366974.4	37	c.69	CCDS31019.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.788551|4.788551	0.90367|0.90367	.|.	.|.	ENSG00000203705|ENSG00000203705	ENST00000532324;ENST00000366974;ENST00000530441;ENST00000526641;ENST00000531963;ENST00000366973;ENST00000526997;ENST00000530399|ENST00000488246	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.237397|.	0.42964|.	D|.	0.000636|.	T|T	0.77631|0.77631	0.4159|0.4159	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	P;B;P;P;P|.	0.45986|.	0.87;0.324;0.517;0.646;0.562|.	P;B;P;P;B|.	0.52031|.	0.688;0.416;0.47;0.447;0.427|.	T|T	0.78964|0.78964	-0.1996|-0.1996	9|5	0.44086|.	T|.	0.13|.	-11.9861|-11.9861	15.1036|15.1036	0.72303|0.72303	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	25;25;25;25;25|.	E9PNH3;G3V151;E9PJE5;Q17R31-2;Q17R31|.	.;.;.;.;TATD3_HUMAN|.	N|E	25;25;25;25;25;25;25;24|24	.|.	ENSP00000355940:D25N|.	D|G	+|+	1|2	0|0	TATDN3|TATDN3	211035066|211035066	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.411000|4.411000	0.59781|0.59781	2.691000|2.691000	0.91804|0.91804	0.650000|0.650000	0.86243|0.86243	GAT|GGA	TATDN3	-	pfam_TatD_superfamily	ENSG00000203705		0.308	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TATDN3	HGNC	protein_coding	OTTHUMT00000089396.2	235	0.00	0	G	XM_375838		212968443	212968443	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000525574	ensembl	human	known	69_37n	nonsense	277	12.62	40	SNP	1.000	A
TBC1D24	57465	genome.wustl.edu	37	16	2546253	2546253	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:2546253T>C	ENST00000293970.5	+	2	237	c.104T>C	c.(103-105)cTg>cCg	p.L35P	TBC1D24_ENST00000567020.1_Missense_Mutation_p.L35P|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.L35P|TBC1D24_ENST00000434757.2_Missense_Mutation_p.L35P	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	35					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CTGCAGGAACTGAAGCAGCTG	0.627																																						dbGAP											0													47.0	57.0	54.0					16																	2546253		2099	4229	6328	-	-	-	SO:0001583	missense	0			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.104T>C	16.37:g.2546253T>C	ENSP00000293970:p.Leu35Pro		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc	p.L35P	ENST00000293970.5	37	c.104	CCDS55980.1	16	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577890	0.65878	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.32988	1.43;1.43	5.6	5.6	0.85130	.	0.138858	0.50627	D	0.000104	T	0.51652	0.1687	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.969;0.959;0.982	T	0.53940	-0.8367	10	0.87932	D	0	-20.3064	14.6073	0.68489	0.0:0.0:0.0:1.0	.	35;35;35	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	P	35	ENSP00000293970:L35P;ENSP00000390106:L35P	ENSP00000293970:L35P	L	+	2	0	TBC1D24	2486254	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	7.685000	0.84117	2.134000	0.65973	0.448000	0.29417	CTG	TBC1D24	-	NULL	ENSG00000162065		0.627	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D24	HGNC	protein_coding	OTTHUMT00000435637.1	30	0.00	0	T	NM_020705		2546253	2546253	+1	no_errors	ENST00000293970	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	C
TCHH	7062	genome.wustl.edu	37	1	152082115	152082115	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:152082115T>C	ENST00000368804.1	-	2	3577	c.3578A>G	c.(3577-3579)cAg>cGg	p.Q1193R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1193	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcccgctcctggcgcctttt	0.587																																						dbGAP											0													79.0	79.0	79.0					1																	152082115		2028	4199	6227	-	-	-	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3578A>G	1.37:g.152082115T>C	ENSP00000357794:p.Gln1193Arg		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.Q1193R	ENST00000368804.1	37	c.3578	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554337	0.27739	.	.	ENSG00000159450	ENST00000368804	T	0.05258	3.47	4.21	3.03	0.35002	.	.	.	.	.	T	0.01695	0.0054	L	0.27053	0.805	0.23215	N	0.998106	P	0.47409	0.895	B	0.43754	0.43	T	0.47182	-0.9137	9	0.19590	T	0.45	.	7.8223	0.29294	0.1938:0.0:0.0:0.8062	.	1193	Q07283	TRHY_HUMAN	R	1193	ENSP00000357794:Q1193R	ENSP00000357794:Q1193R	Q	-	2	0	TCHH	150348739	0.000000	0.05858	0.704000	0.30370	0.156000	0.22039	0.148000	0.16224	0.441000	0.26529	0.374000	0.22700	CAG	TCHH	-	NULL	ENSG00000159450		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	343	0.29	1	T	NM_007113		152082115	152082115	-1	no_errors	ENST00000368804	ensembl	human	known	69_37n	missense	309	13.45	48	SNP	0.848	C
TCTN1	79600	genome.wustl.edu	37	12	111064185	111064185	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:111064185T>C	ENST00000551590.1	+	3	516	c.360T>C	c.(358-360)tgT>tgC	p.C120C	TCTN1_ENST00000397659.4_Silent_p.C120C|TCTN1_ENST00000377654.3_5'UTR|RN7SL387P_ENST00000581015.1_RNA|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000471804.2_Silent_p.C120C|TCTN1_ENST00000550703.2_Silent_p.C120C|TCTN1_ENST00000397655.3_Silent_p.C120C			Q2MV58	TECT1_HUMAN	tectonic family member 1	120					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						GCCAGTTTTGTAGTCAAAAAG	0.318																																						dbGAP											0													60.0	54.0	56.0					12																	111064185		1789	4059	5848	-	-	-	SO:0001819	synonymous_variant	0			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.360T>C	12.37:g.111064185T>C			A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Silent	SNP	pfam_DUF1619	p.C120	ENST00000551590.1	37	c.360	CCDS41835.1	12																																																																																			TCTN1	-	pfam_DUF1619	ENSG00000204852		0.318	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	TCTN1	HGNC	protein_coding	OTTHUMT00000316016.2	169	0.00	0	T	NM_024549		111064185	111064185	+1	no_errors	ENST00000397659	ensembl	human	known	69_37n	silent	95	22.76	28	SNP	0.995	C
TDRD6	221400	genome.wustl.edu	37	6	46658417	46658417	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:46658417T>A	ENST00000316081.6	+	1	2552	c.2552T>A	c.(2551-2553)tTt>tAt	p.F851Y	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.F851Y|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	851	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AATGTAACATTTGTAGATTAT	0.393																																						dbGAP											0													103.0	105.0	105.0					6																	46658417		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2552T>A	6.37:g.46658417T>A	ENSP00000346065:p.Phe851Tyr		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.F851Y	ENST00000316081.6	37	c.2552	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	T	15.98	2.992107	0.54041	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10382	2.88;2.88	5.75	5.75	0.90469	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.047372	0.85682	D	0.000000	T	0.05868	0.0153	L	0.33293	1	0.39085	D	0.960988	P;P	0.41366	0.702;0.747	B;P	0.47786	0.421;0.557	T	0.43589	-0.9382	10	0.17369	T	0.5	-10.0516	10.9515	0.47332	0.1733:0.0:0.0:0.8267	.	851;851	F5H5M3;O60522	.;TDRD6_HUMAN	Y	851	ENSP00000443299:F851Y;ENSP00000346065:F851Y	ENSP00000346065:F851Y	F	+	2	0	TDRD6	46766376	1.000000	0.71417	0.960000	0.40013	0.628000	0.37860	3.837000	0.55820	2.189000	0.69895	0.533000	0.62120	TTT	TDRD6	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000180113		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	80	0.00	0	T	XM_166443		46658417	46658417	+1	no_errors	ENST00000316081	ensembl	human	known	69_37n	missense	88	12.87	13	SNP	1.000	A
TECPR1	25851	genome.wustl.edu	37	7	97858423	97858423	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:97858423C>T	ENST00000447648.2	-	16	2637	c.2338G>A	c.(2338-2340)Gtg>Atg	p.V780M	TECPR1_ENST00000542604.1_Missense_Mutation_p.V710M|TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000379795.3_Missense_Mutation_p.V781M			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	780					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCCACACCACGCCCCGGCTG	0.677																																						dbGAP											0													17.0	23.0	21.0					7																	97858423		1939	4120	6059	-	-	-	SO:0001583	missense	0				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2338G>A	7.37:g.97858423C>T	ENSP00000404923:p.Val780Met		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.V781M	ENST00000447648.2	37	c.2341	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833210	0.71258	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.49139	1.05;1.04;0.79	5.13	5.13	0.70059	.	0.326016	0.31747	N	0.007140	T	0.66117	0.2757	M	0.74881	2.28	0.35716	D	0.816754	D;D	0.58970	0.984;0.963	D;P	0.65874	0.939;0.55	T	0.76260	-0.3024	10	0.72032	D	0.01	-11.9768	13.0797	0.59107	0.0:0.9198:0.0:0.0802	.	710;780	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	M	780;781;710	ENSP00000404923:V780M;ENSP00000369121:V781M;ENSP00000441121:V710M	ENSP00000369121:V781M	V	-	1	0	TECPR1	97696359	0.881000	0.30235	0.995000	0.50966	0.685000	0.39939	1.751000	0.38339	2.393000	0.81446	0.555000	0.69702	GTG	TECPR1	-	smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.677	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	19	0.00	0	C	NM_015395		97858423	97858423	-1	no_errors	ENST00000379795	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	0.993	T
TEK	7010	genome.wustl.edu	37	9	27197533	27197533	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:27197533T>C	ENST00000380036.4	+	12	2287	c.1845T>C	c.(1843-1845)gcT>gcC	p.A615A	RNA5SP280_ENST00000411230.1_RNA|TEK_ENST00000519097.1_Silent_p.A468A|TEK_ENST00000406359.4_Silent_p.A572A	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	615	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TGGTCCGAGCTAGAGTCAACA	0.483																																						dbGAP											0													72.0	67.0	69.0					9																	27197533		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1845T>C	9.37:g.27197533T>C			A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A615	ENST00000380036.4	37	c.1845	CCDS6519.1	9																																																																																			TEK	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120156		0.483	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	58	0.00	0	T			27197533	27197533	+1	no_errors	ENST00000380036	ensembl	human	known	69_37n	silent	49	16.95	10	SNP	0.999	C
TEP1	7011	genome.wustl.edu	37	14	20836967	20836967	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr14:20836967C>T	ENST00000262715.5	-	54	7791	c.7751G>A	c.(7750-7752)aGt>aAt	p.S2584N	TEP1_ENST00000556935.1_Missense_Mutation_p.S2476N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2584					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCATACTGGGTCTCTC	0.512																																						dbGAP											0													103.0	78.0	86.0					14																	20836967		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7751G>A	14.37:g.20836967C>T	ENSP00000262715:p.Ser2584Asn		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S2584N	ENST00000262715.5	37	c.7751	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134830	0.56828	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.36520	1.25;1.25	5.71	4.63	0.57726	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.119114	0.56097	D	0.000029	T	0.19406	0.0466	N	0.17082	0.46	0.80722	D	1	B;B	0.30851	0.297;0.197	B;B	0.27262	0.078;0.036	T	0.05666	-1.0871	10	0.26408	T	0.33	-13.7677	8.1385	0.31069	0.0:0.7409:0.1644:0.0948	.	2476;2584	G3V5X7;Q99973	.;TEP1_HUMAN	N	2584;2576;2476	ENSP00000262715:S2584N;ENSP00000452574:S2476N	ENSP00000262715:S2584N	S	-	2	0	TEP1	19906807	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.971000	0.29396	2.701000	0.92244	0.591000	0.81541	AGT	TEP1	-	pfscan_WD40_repeat_dom	ENSG00000129566		0.512	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	70	0.00	0	C	NM_007110		20836967	20836967	-1	no_errors	ENST00000262715	ensembl	human	known	69_37n	missense	69	13.75	11	SNP	0.996	T
TFAP2C	7022	genome.wustl.edu	37	20	55209319	55209319	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:55209319T>C	ENST00000201031.2	+	5	1160	c.917T>C	c.(916-918)gTa>gCa	p.V306A	TFAP2C_ENST00000544508.1_Missense_Mutation_p.V137A	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	306	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ACATCCTTAGTAGAAGGTCAG	0.453																																						dbGAP											0													60.0	57.0	58.0					20																	55209319		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.917T>C	20.37:g.55209319T>C	ENSP00000201031:p.Val306Ala		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma	p.V306A	ENST00000201031.2	37	c.917	CCDS13454.1	20	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427274	0.83667	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	D;D	0.98135	-4.74;-4.74	5.06	5.06	0.68205	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98998	0.9658	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99577	1.0972	10	0.87932	D	0	-18.1102	14.8268	0.70120	0.0:0.0:0.0:1.0	.	306	Q92754	AP2C_HUMAN	A	306;137	ENSP00000201031:V306A;ENSP00000442274:V137A	ENSP00000201031:V306A	V	+	2	0	TFAP2C	54642726	1.000000	0.71417	0.064000	0.19789	0.799000	0.45148	7.930000	0.87610	1.915000	0.55452	0.459000	0.35465	GTA	TFAP2C	-	pfam_TF_AP2_C,prints_TF_AP2_C	ENSG00000087510		0.453	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2C	HGNC	protein_coding	OTTHUMT00000079823.2	76	0.00	0	T	NM_003222		55209319	55209319	+1	no_errors	ENST00000201031	ensembl	human	known	69_37n	missense	56	15.15	10	SNP	0.998	C
TFAP2E	339488	genome.wustl.edu	37	1	36055628	36055628	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:36055628C>T	ENST00000373235.3	+	5	1091	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CAATGTGACGCTGCTGACTTC	0.577																																						dbGAP											0													82.0	72.0	75.0					1																	36055628		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.883C>T	1.37:g.36055628C>T				Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.L295	ENST00000373235.3	37	c.883	CCDS393.2	1																																																																																			TFAP2E	-	pfam_TF_AP2_C,prints_TF_AP2_C	ENSG00000116819		0.577	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2E	HGNC	protein_coding	OTTHUMT00000012732.1	109	0.00	0	C	NM_178548		36055628	36055628	+1	no_errors	ENST00000373235	ensembl	human	known	69_37n	silent	108	17.56	23	SNP	0.816	T
TFPI2	7980	genome.wustl.edu	37	7	93516141	93516141	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:93516141C>T	ENST00000222543.5	-	5	1011	c.699G>A	c.(697-699)aaG>aaA	p.K233K	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Silent_p.K122K	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	233					blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TTTAAAATTGCTTCTTCCGAA	0.318																																						dbGAP											0													116.0	127.0	123.0					7																	93516141		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.699G>A	7.37:g.93516141C>T			Q66ME8|Q8NAK6|Q9UC86	Silent	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.K233	ENST00000222543.5	37	c.699	CCDS5632.1	7																																																																																			TFPI2	-	pirsf_Prot_inhib_I2_TFPI	ENSG00000105825		0.318	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI2	HGNC	protein_coding	OTTHUMT00000254720.2	162	0.00	0	C	NM_006528		93516141	93516141	-1	no_errors	ENST00000222543	ensembl	human	known	69_37n	silent	106	11.67	14	SNP	0.064	T
TG	7038	genome.wustl.edu	37	8	133910445	133910445	+	Silent	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:133910445G>T	ENST00000220616.4	+	13	3211	c.3171G>T	c.(3169-3171)ggG>ggT	p.G1057G	TG_ENST00000377869.1_Silent_p.G1057G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1057	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAAAGGAGGGTTCATCCCTG	0.542																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3171G>T	8.37:g.133910445G>T			O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.G24V	ENST00000220616.4	37	c.71	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.604028	0.00849	.	.	ENSG00000042832	ENST00000518505	T	0.61859	0.07	4.91	-2.24	0.06909	.	0.622892	0.15016	N	0.285262	T	0.44030	0.1274	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41179	-0.9523	7	0.54805	T	0.06	.	1.2485	0.01978	0.2328:0.1805:0.3968:0.1899	.	.	.	.	V	24	ENSP00000429605:G24V	ENSP00000429605:G24V	G	+	2	0	TG	133979627	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.449000	0.06812	-0.419000	0.07439	-2.689000	0.00140	GGT	TG	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000042832		0.542	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	95	0.00	0	G	NM_003235		133910445	133910445	+1	pseudogene:no_stop_codon	ENST00000518505	ensembl	human	novel	69_37n	missense	256	17.68	55	SNP	0.000	T
TIMM8B	26521	genome.wustl.edu	37	11	111956054	111956054	+	Missense_Mutation	SNP	G	G	A	rs538340896		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:111956054G>A	ENST00000504148.2	-	2	288	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	SDHD_ENST00000375549.3_5'Flank|SDHD_ENST00000528182.1_5'Flank|TIMM8B_ENST00000541231.1_Missense_Mutation_p.R88W|SDHD_ENST00000526592.1_5'Flank|SDHD_ENST00000532699.1_5'Flank|TIMM8B_ENST00000507614.1_5'UTR|SDHD_ENST00000528048.1_5'Flank|SDHD_ENST00000528021.1_5'Flank|SDHD_ENST00000525291.1_5'Flank	NM_012459.2	NP_036591.2	Q9Y5J9	TIM8B_HUMAN	translocase of inner mitochondrial membrane 8 homolog B (yeast)	73					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space protein transporter complex (GO:0042719)	zinc ion binding (GO:0008270)			large_intestine(1)	1		all_cancers(61;1.84e-10)|all_epithelial(67;9.33e-06)|Melanoma(852;4.01e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;6.01e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.03e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TGGGCAAACCGACTGGTGATG	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19389	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													118.0	98.0	105.0					11																	111956054		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF150087	CCDS8357.1, CCDS8357.2	11q23.1-q23.2	2010-11-23	2001-11-28		ENSG00000150779	ENSG00000150779			11818	protein-coding gene	gene with protein product	"""mitochondrial import inner membrane translocase subunit Tim8 B"""	606659	"""translocase of inner mitochondrial membrane 8 (yeast) homolog B"""			10552927	Standard	NM_012459		Approved	TIM8B, DDP2, FLJ21744, MGC102866, MGC117373	uc001pmx.3	Q9Y5J9	OTTHUMG00000162261	ENST00000504148.2:c.217C>T	11.37:g.111956054G>A	ENSP00000422122:p.Arg73Trp		B0YJA5|Q3KQS9|Q9UN04	Missense_Mutation	SNP	pfam_Tim8/9/10/13_Znf-like,superfamily_Tim8/9/10/13_Znf-like	p.R88W	ENST00000504148.2	37	c.262		11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139182	0.77775	.	.	ENSG00000150779	ENST00000504148;ENST00000541231	T;T	0.67523	-0.27;-0.27	5.66	5.66	0.87406	.	0.054650	0.85682	D	0.000000	T	0.56093	0.1962	.	.	.	0.80722	D	1	P	0.43633	0.813	B	0.27887	0.084	T	0.65286	-0.6205	9	0.72032	D	0.01	-29.3406	18.5699	0.91132	0.0:0.0:1.0:0.0	.	73	Q9Y5J9	TIM8B_HUMAN	W	73;88	ENSP00000422122:R73W;ENSP00000438455:R88W	ENSP00000422122:R73W	R	-	1	2	TIMM8B	111461264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.631000	0.90991	2.702000	0.92279	0.549000	0.68633	CGG	TIMM8B	-	pfam_Tim8/9/10/13_Znf-like,superfamily_Tim8/9/10/13_Znf-like	ENSG00000150779		0.507	TIMM8B-001	KNOWN	basic|appris_principal	protein_coding	TIMM8B	HGNC	protein_coding	OTTHUMT00000368270.2	129	0.00	0	G	NM_012459		111956054	111956054	-1	no_errors	ENST00000541231	ensembl	human	known	69_37n	missense	163	10.93	20	SNP	1.000	A
TJAP1	93643	genome.wustl.edu	37	6	43471369	43471369	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:43471369C>T	ENST00000372445.5	+	10	880	c.504C>T	c.(502-504)taC>taT	p.Y168Y	TJAP1_ENST00000372452.1_Silent_p.Y158Y|TJAP1_ENST00000372449.1_Silent_p.Y168Y|TJAP1_ENST00000372444.2_Silent_p.Y158Y|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Silent_p.Y158Y|TJAP1_ENST00000259751.1_Silent_p.Y158Y|TJAP1_ENST00000438588.2_Silent_p.Y168Y	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	168					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGAGCGGTACCGGCTGGACT	0.592																																						dbGAP											0													73.0	71.0	72.0					6																	43471369		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.504C>T	6.37:g.43471369C>T			Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	NULL	p.P116S	ENST00000372445.5	37	c.346	CCDS55004.1	6	.	.	.	.	.	.	.	.	.	.	C	7.728	0.698698	0.15106	.	.	ENSG00000137221	ENST00000454762	.	.	.	5.55	4.69	0.59074	.	.	.	.	.	T	0.45296	0.1335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48340	-0.9044	4	.	.	.	-19.4266	7.5851	0.27987	0.0:0.7749:0.0:0.2251	.	.	.	.	S	116	.	.	P	+	1	0	TJAP1	43579347	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	1.130000	0.31393	1.368000	0.46115	-0.369000	0.07265	CCG	TJAP1	-	NULL	ENSG00000137221		0.592	TJAP1-202	KNOWN	basic|CCDS	protein_coding	TJAP1	HGNC	protein_coding	OTTHUMT00000040629.1	43	0.00	0	C	NM_080604		43471369	43471369	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454762	ensembl	human	known	69_37n	missense	87	12.12	12	SNP	1.000	T
TLR1	7096	genome.wustl.edu	37	4	38798998	38798998	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:38798998T>C	ENST00000502213.2	-	3	1684	c.1455A>G	c.(1453-1455)ggA>ggG	p.G485G	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Silent_p.G485G			Q15399	TLR1_HUMAN	toll-like receptor 1	485					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGCTGCCACATCCAGGAAGGT	0.408																																					GBM(5;216 373 40795 46382)	dbGAP											0													52.0	56.0	55.0					4																	38798998		2201	4279	6480	-	-	-	SO:0001819	synonymous_variant	0			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1455A>G	4.37:g.38798998T>C			D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom	p.G485	ENST00000502213.2	37	c.1455	CCDS33973.1	4																																																																																			TLR1	-	pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp	ENSG00000174125		0.408	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR1	HGNC	protein_coding	OTTHUMT00000360510.3	166	0.00	0	T			38798998	38798998	-1	no_errors	ENST00000308979	ensembl	human	known	69_37n	silent	127	15.33	23	SNP	0.672	C
TLL1	7092	genome.wustl.edu	37	4	166914018	166914018	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:166914018A>G	ENST00000061240.2	+	3	990	c.343A>G	c.(343-345)Ata>Gta	p.I115V	TLL1_ENST00000513213.1_Missense_Mutation_p.I115V|TLL1_ENST00000507499.1_Missense_Mutation_p.I115V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	115					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TATAGACAGGATAAGAAGAAT	0.348																																						dbGAP											0													104.0	104.0	104.0					4																	166914018		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.343A>G	4.37:g.166914018A>G	ENSP00000061240:p.Ile115Val		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.I115V	ENST00000061240.2	37	c.343	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	A	13.73	2.325228	0.41197	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	T;T;T;T	0.80304	0.52;0.45;0.36;-1.36	5.52	5.52	0.82312	.	0.176171	0.48286	U	0.000188	T	0.74665	0.3746	L	0.44542	1.39	0.52501	D	0.999953	B;B	0.20780	0.048;0.048	B;B	0.18561	0.015;0.022	T	0.69599	-0.5102	10	0.27785	T	0.31	.	15.6377	0.76966	1.0:0.0:0.0:0.0	.	115;115	E9PD25;O43897	.;TLL1_HUMAN	V	115;115;115;15	ENSP00000061240:I115V;ENSP00000426082:I115V;ENSP00000422937:I115V;ENSP00000423748:I15V	ENSP00000061240:I115V	I	+	1	0	TLL1	167133468	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.999000	0.88496	2.101000	0.63845	0.460000	0.39030	ATA	TLL1	-	pirsf_BMP_1/tolloid-like	ENSG00000038295		0.348	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	193	0.00	0	A			166914018	166914018	+1	no_errors	ENST00000061240	ensembl	human	known	69_37n	missense	108	24.48	35	SNP	1.000	G
TMC2	117532	genome.wustl.edu	37	20	2517917	2517917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:2517917C>T	ENST00000358864.1	+	2	52	c.37C>T	c.(37-39)Cga>Tga	p.R13*		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	13	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						TCTTACAGCACGAGGCGGAGT	0.637																																						dbGAP											0													52.0	45.0	48.0					20																	2517917		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0			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.37C>T	20.37:g.2517917C>T	ENSP00000351732:p.Arg13*		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Nonsense_Mutation	SNP	pfam_TMC	p.R13*	ENST00000358864.1	37	c.37	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328352	0.60743	.	.	ENSG00000149488	ENST00000358864	.	.	.	3.39	-1.34	0.09143	.	1.410840	0.05230	U	0.510239	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	6.3347	2.7316	0.05229	0.1448:0.2842:0.4447:0.1263	.	.	.	.	X	13	.	ENSP00000351732:R13X	R	+	1	2	TMC2	2465917	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.564000	0.23563	-0.192000	0.10432	0.462000	0.41574	CGA	TMC2	-	NULL	ENSG00000149488		0.637	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	59	0.00	0	C			2517917	2517917	+1	no_errors	ENST00000358864	ensembl	human	known	69_37n	nonsense	52	26.76	19	SNP	0.000	T
TMEM115	11070	genome.wustl.edu	37	3	50396186	50396186	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:50396186T>C	ENST00000266025.3	-	1	855	c.309A>G	c.(307-309)tcA>tcG	p.S103S	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	103					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CATTCACCACTGAGAAGAAGA	0.602																																						dbGAP											0													70.0	83.0	78.0					3																	50396186		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"""placental protein 6"""	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.309A>G	3.37:g.50396186T>C			A2IDB7|O14568|Q6IAY4|Q9UIX3	Silent	SNP	pfam_DUF1751_Mem_euk	p.S103	ENST00000266025.3	37	c.309	CCDS2828.1	3																																																																																			TMEM115	-	pfam_DUF1751_Mem_euk	ENSG00000126062		0.602	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM115	HGNC	protein_coding	OTTHUMT00000102784.3	37	0.00	0	T	NM_007024		50396186	50396186	-1	no_errors	ENST00000266025	ensembl	human	known	69_37n	silent	26	23.53	8	SNP	0.056	C
TMEM209	84928	genome.wustl.edu	37	7	129821553	129821553	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:129821553T>C	ENST00000397622.2	-	9	1152	c.1030A>G	c.(1030-1032)Aat>Gat	p.N344D	TMEM209_ENST00000336804.8_Missense_Mutation_p.N343D|TMEM209_ENST00000462753.1_Missense_Mutation_p.N343D|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Missense_Mutation_p.N344D	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	344						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					ATTGTCTCATTGATCCACTAG	0.358																																						dbGAP											0													106.0	99.0	101.0					7																	129821553		1892	4123	6015	-	-	-	SO:0001583	missense	0				CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.1030A>G	7.37:g.129821553T>C	ENSP00000380747:p.Asn344Asp		A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	pfam_Cytochrome_B561-rel	p.N344D	ENST00000397622.2	37	c.1030	CCDS47712.1	7	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772028	0.69992	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.38	5.38	0.77491	.	0.188911	0.56097	D	0.000025	T	0.30978	0.0782	L	0.60455	1.87	0.45272	D	0.998278	P;B	0.37276	0.589;0.175	B;B	0.33392	0.163;0.089	T	0.12630	-1.0540	10	0.52906	T	0.07	-10.6587	14.5876	0.68339	0.0:0.0:0.0:1.0	.	344;344	Q96SK2-3;Q96SK2	.;TM209_HUMAN	D	344;343;344;343	ENSP00000380747:N344D;ENSP00000419697:N343D;ENSP00000417258:N344D;ENSP00000338388:N343D	ENSP00000338388:N343D	N	-	1	0	TMEM209	129608789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.636000	0.83301	2.042000	0.60477	0.455000	0.32223	AAT	TMEM209	-	pfam_Cytochrome_B561-rel	ENSG00000146842		0.358	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM209	HGNC	protein_coding	OTTHUMT00000349339.1	162	0.00	0	T	NM_032842		129821553	129821553	-1	no_errors	ENST00000397622	ensembl	human	known	69_37n	missense	163	21.26	44	SNP	1.000	C
TMPRSS11A	339967	genome.wustl.edu	37	4	68812185	68812185	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:68812185A>G	ENST00000334830.7	-	2	862	c.116T>C	c.(115-117)gTt>gCt	p.V39A	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.V39A|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.V38A			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	39					cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TAGGAAGTGAACCAGGAGACC	0.398																																					NSCLC(26;2 894 10941 14480 22546)	dbGAP											0													69.0	65.0	67.0					4																	68812185		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.116T>C	4.37:g.68812185A>G	ENSP00000334611:p.Val39Ala		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.V39A	ENST00000334830.7	37	c.116	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	A	3.713	-0.059119	0.07317	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	T;T;T;T	0.35236	1.32;1.32;1.32;1.43	4.39	-5.79	0.02354	.	1.111420	0.06910	N	0.807503	T	0.20414	0.0491	N	0.13198	0.31	0.24529	N	0.994121	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.25779	-1.0122	10	0.33940	T	0.23	.	12.3767	0.55283	0.3418:0.0:0.6582:0.0	.	39;39	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	A	38;39;39;33	ENSP00000426911:V38A;ENSP00000334611:V39A;ENSP00000379491:V39A;ENSP00000427621:V33A	ENSP00000334611:V39A	V	-	2	0	TMPRSS11A	68494780	0.013000	0.17824	0.405000	0.26409	0.042000	0.13812	-0.589000	0.05767	-1.266000	0.02446	-0.899000	0.02877	GTT	TMPRSS11A	-	pirsf_Pept_S1A_HAT/DESC1	ENSG00000187054		0.398	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	49	0.00	0	A	NM_182606		68812185	68812185	-1	no_errors	ENST00000334830	ensembl	human	known	69_37n	missense	45	11.76	6	SNP	0.827	G
TMPRSS15	5651	genome.wustl.edu	37	21	19775875	19775875	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr21:19775875G>A	ENST00000284885.3	-	1	98	c.65C>T	c.(64-66)gCa>gTa	p.A22V		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	22						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAAGAGAGCTGCAAACATGAT	0.428																																						dbGAP											0													150.0	140.0	143.0					21																	19775875		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.65C>T	21.37:g.19775875G>A	ENSP00000284885:p.Ala22Val		Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A22V	ENST00000284885.3	37	c.65	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	G	3.234	-0.156902	0.06544	.	.	ENSG00000154646	ENST00000284885	D	0.86562	-2.14	5.16	2.37	0.29283	.	0.397457	0.25349	N	0.031314	T	0.80879	0.4708	L	0.56769	1.78	0.09310	N	1	B	0.18310	0.027	B	0.12837	0.008	T	0.65721	-0.6099	9	.	.	.	.	5.414	0.16363	0.1776:0.1644:0.6581:0.0	.	22	P98073	ENTK_HUMAN	V	22	ENSP00000284885:A22V	.	A	-	2	0	TMPRSS15	18697746	0.001000	0.12720	0.015000	0.15790	0.017000	0.09413	0.317000	0.19487	0.345000	0.23873	-0.300000	0.09419	GCA	TMPRSS15	-	NULL	ENSG00000154646		0.428	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	151	0.66	1	G	NM_002772		19775875	19775875	-1	no_errors	ENST00000284885	ensembl	human	known	69_37n	missense	86	41.10	60	SNP	0.015	A
TNMD	64102	genome.wustl.edu	37	X	99849281	99849281	+	Silent	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:99849281G>T	ENST00000373031.4	+	4	562	c.345G>T	c.(343-345)gtG>gtT	p.V115V	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	115	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						TCTACTTCGTGGGTCTTCAAA	0.363																																						dbGAP											0													111.0	97.0	101.0					X																	99849281		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.345G>T	X.37:g.99849281G>T			Q9HBX0|Q9UJG0	Silent	SNP	pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom	p.V115	ENST00000373031.4	37	c.345	CCDS14469.1	X																																																																																			TNMD	-	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	ENSG00000000005		0.363	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNMD	HGNC	protein_coding	OTTHUMT00000057481.1	254	0.00	0	G	NM_022144		99849281	99849281	+1	no_errors	ENST00000373031	ensembl	human	known	69_37n	silent	152	18.28	34	SNP	0.995	T
TNNI3	7137	genome.wustl.edu	37	19	55668470	55668470	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:55668470A>G	ENST00000344887.5	-	3	198	c.56T>C	c.(55-57)aTc>aCc	p.I19T	TNNI3_ENST00000590463.1_5'UTR|TNNI3_ENST00000588882.1_5'Flank|DNAAF3_ENST00000587789.2_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|CTD-2587H24.4_ENST00000587871.1_3'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	19					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCGGCGTCTGATTGGGGCTGG	0.672																																						dbGAP											0													45.0	53.0	50.0					19																	55668470		2009	4158	6167	-	-	-	SO:0001583	missense	0			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.56T>C	19.37:g.55668470A>G	ENSP00000341838:p.Ile19Thr			Missense_Mutation	SNP	pfam_Troponin,pfam_Troponin-I_N	p.I19T	ENST00000344887.5	37	c.56	CCDS42628.1	19	.	.	.	.	.	.	.	.	.	.	A	6.705	0.498676	0.12762	.	.	ENSG00000129991	ENST00000344887	D	0.85773	-2.03	4.01	4.01	0.46588	.	0.823139	0.10252	N	0.697071	T	0.69771	0.3148	N	0.14661	0.345	0.21697	N	0.999584	B	0.12013	0.005	B	0.14578	0.011	T	0.55153	-0.8185	10	0.07030	T	0.85	-22.4046	8.0776	0.30726	0.8982:0.0:0.1018:0.0	.	19	P19429	TNNI3_HUMAN	T	19	ENSP00000341838:I19T	ENSP00000341838:I19T	I	-	2	0	TNNI3	60360282	0.692000	0.27719	0.142000	0.22268	0.307000	0.27823	3.858000	0.55979	1.768000	0.52137	0.379000	0.24179	ATC	TNNI3	-	pfam_Troponin-I_N	ENSG00000129991		0.672	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI3	HGNC	protein_coding	OTTHUMT00000452098.1	62	0.00	0	A			55668470	55668470	-1	no_errors	ENST00000344887	ensembl	human	known	69_37n	missense	82	14.43	14	SNP	0.220	G
TOPBP1	11073	genome.wustl.edu	37	3	133356790	133356790	+	Nonsense_Mutation	SNP	G	G	T	rs17301766	byFrequency	TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:133356790G>T	ENST00000260810.5	-	14	2581	c.2450C>A	c.(2449-2451)tCg>tAg	p.S817*		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	817			S -> L (in dbSNP:rs17301766).		cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CAGGTGTAACGAGGGCTCCTT	0.498								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	dbGAP											0													209.0	214.0	212.0					3																	133356790		2007	4176	6183	-	-	-	SO:0001587	stop_gained	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2450C>A	3.37:g.133356790G>T	ENSP00000260810:p.Ser817*		B7Z7W8|Q7LGC1|Q9UEB9	Nonsense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.S817*	ENST00000260810.5	37	c.2450	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	G	41	9.003379	0.99033	.	.	ENSG00000163781	ENST00000260810	.	.	.	6.03	5.16	0.70880	.	0.281133	0.35207	N	0.003379	.	.	.	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2571	0.73593	0.0668:0.0:0.9332:0.0	.	.	.	.	X	817	.	ENSP00000260810:S817X	S	-	2	0	TOPBP1	134839480	1.000000	0.71417	0.656000	0.29637	0.910000	0.53928	5.412000	0.66392	1.559000	0.49555	0.655000	0.94253	TCG	TOPBP1	-	superfamily_Secretoglobin	ENSG00000163781		0.498	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	282	0.35	1	G	NM_007027		133356790	133356790	-1	no_errors	ENST00000260810	ensembl	human	known	69_37n	nonsense	367	13.03	55	SNP	0.955	T
TP53	7157	genome.wustl.edu	37	17	7577527	7577527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:7577527delG	ENST00000269305.4	-	7	943	c.754delC	c.(754-756)ctcfs	p.L252fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.L252fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L252fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.L252fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L252fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.L252fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	252	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in a sporadic cancer; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|L -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L252F(9)|p.0?(8)|p.L252fs*93(5)|p.L252del(5)|p.L252_I254delLTI(4)|p.I251_T253delILT(4)|p.L252delL(3)|p.P250_L252delPIL(2)|p.L252_T253delLT(1)|p.?(1)|p.P250_T253delPILT(1)|p.L252fs*92(1)|p.L252fs*12(1)|p.L252fs*13(1)|p.I251_L252insX(1)|p.R249_T256delRPILTIIT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGATGGTGAGGATGGGCCTC	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	48	Deletion - In frame(21)|Substitution - Missense(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(2)|Insertion - In frame(1)|Unknown(1)	lung(8)|large_intestine(6)|upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|stomach(4)|bone(4)|central_nervous_system(3)|liver(3)|endometrium(2)|breast(2)|biliary_tract(1)|peritoneum(1)|urinary_tract(1)|oesophagus(1)|skin(1)|ovary(1)											153.0	110.0	125.0					17																	7577527		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.754delC	17.37:g.7577527delG	ENSP00000269305:p.Leu252fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L252fs	ENST00000269305.4	37	c.754	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	68	0.00	0	G	NM_000546		7577527	7577527	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	31	60.47	52	DEL	1.000	-
TP53INP1	94241	genome.wustl.edu	37	8	95952411	95952411	+	Silent	SNP	T	T	C	rs548441545|rs563445319	byFrequency	TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:95952411T>C	ENST00000342697.4	-	3	557	c.150A>G	c.(148-150)gaA>gaG	p.E50E	TP53INP1_ENST00000448464.2_Silent_p.E50E|TP53INP1_ENST00000378776.4_Silent_p.E50E|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TGTCCTCCTCTTCTTCTTCTT	0.463													T|||	1	0.000199681	0.0	0.0014	5008	,	,		21718	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											107.0	117.0	114.0					8																	95952411		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.150A>G	8.37:g.95952411T>C			B2RCE5|Q969R9	Silent	SNP	NULL	p.E50	ENST00000342697.4	37	c.150	CCDS6265.1	8																																																																																			TP53INP1	-	NULL	ENSG00000164938		0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53INP1	HGNC	protein_coding	OTTHUMT00000379818.1	140	0.00	0	T			95952411	95952411	-1	no_errors	ENST00000342697	ensembl	human	known	69_37n	silent	244	12.23	34	SNP	0.009	C
TPO	7173	genome.wustl.edu	37	2	1507765	1507765	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:1507765C>G	ENST00000345913.4	+	14	2523	c.2432C>G	c.(2431-2433)tCt>tGt	p.S811C	TPO_ENST00000382201.3_Missense_Mutation_p.S754C|TPO_ENST00000329066.4_Missense_Mutation_p.S811C|TPO_ENST00000337415.3_Missense_Mutation_p.S811C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.S638C|TPO_ENST00000349624.3_Missense_Mutation_p.S638C|TPO_ENST00000346956.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	811	EGF-like; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCCACGCCTCTGCGAGGTGC	0.627																																						dbGAP											0													71.0	68.0	69.0					2																	1507765		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2432C>G	2.37:g.1507765C>G	ENSP00000318820:p.Ser811Cys		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.S811C	ENST00000345913.4	37	c.2432	CCDS1643.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.89|11.89	1.774393|1.774393	0.31411|0.31411	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000425083	.|D;D;D;D;D;D;D	.|0.96104	.|-3.91;-3.91;-3.91;-3.91;-3.91;-3.91;-3.91	4.53|4.53	3.65|3.65	0.41850|0.41850	.|EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.|1.557670	.|0.03723	.|N	.|0.252163	D|D	0.97551|0.97551	0.9198|0.9198	M|M	0.65975|0.65975	2.015|2.015	0.53688|0.53688	D|D	0.999979|0.999979	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.77557	.|0.983;0.983;0.99	D|D	0.89790|0.89790	0.3967|0.3967	5|10	.|0.87932	.|D	.|0	-10.8494|-10.8494	12.0286|12.0286	0.53386|0.53386	0.0:0.9137:0.0:0.0863|0.0:0.9137:0.0:0.0863	.|.	.|638;754;811	.|P07202-5;P07202-2;P07202	.|.;.;PERT_HUMAN	V|C	286|811;811;638;811;754;638;32	.|ENSP00000337263:S811C;ENSP00000318820:S811C;ENSP00000332044:S638C;ENSP00000329869:S811C;ENSP00000371636:S754C;ENSP00000371633:S638C;ENSP00000389659:S32C	.|ENSP00000329869:S811C	L|S	+|+	1|2	2|0	TPO|TPO	1486772|1486772	0.231000|0.231000	0.23751|0.23751	0.002000|0.002000	0.10522|0.10522	0.106000|0.106000	0.19336|0.19336	3.235000|3.235000	0.51328|0.51328	0.900000|0.900000	0.36469|0.36469	0.453000|0.453000	0.30009|0.30009	CTG|TCT	TPO	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000115705		0.627	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	50	0.00	0	C	NM_000547		1507765	1507765	+1	no_errors	ENST00000329066	ensembl	human	known	69_37n	missense	64	20.00	16	SNP	0.129	G
TPP1	1200	genome.wustl.edu	37	11	6637976	6637976	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:6637976G>A	ENST00000299427.6	-	7	862	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_Missense_Mutation_p.R25W	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	ATCCCGGCCCGGCCCCGGCCC	0.577																																						dbGAP											0													94.0	97.0	96.0					11																	6637976		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.802C>T	11.37:g.6637976G>A	ENSP00000299427:p.Arg268Trp		Q71V64	Missense_Mutation	SNP	pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	p.R268W	ENST00000299427.6	37	c.802	CCDS7770.1	11	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389542	0.61956	.	.	ENSG00000166340	ENST00000299427;ENST00000533371	D;D	0.99032	-5.35;-5.19	4.48	1.41	0.22369	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.204031	0.41001	D	0.000970	D	0.98273	0.9428	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	P	0.53689	0.732	D	0.96553	0.9409	10	0.72032	D	0.01	-3.8365	7.0012	0.24811	0.0837:0.0:0.486:0.4303	.	268	O14773	TPP1_HUMAN	W	268;25	ENSP00000299427:R268W;ENSP00000437066:R25W	ENSP00000299427:R268W	R	-	1	2	TPP1	6594552	0.999000	0.42202	0.822000	0.32727	0.961000	0.63080	1.484000	0.35508	0.004000	0.14682	-0.538000	0.04264	CGG	TPP1	-	superfamily_Peptidase_S8/S53	ENSG00000166340		0.577	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP1	HGNC	protein_coding	OTTHUMT00000257261.2	35	0.00	0	G			6637976	6637976	-1	no_errors	ENST00000299427	ensembl	human	known	69_37n	missense	30	28.57	12	SNP	0.987	A
TPRG1L	127262	genome.wustl.edu	37	1	3545009	3545009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:3545009delA	ENST00000378344.2	+	5	732	c.661delA	c.(661-663)aaafs	p.K222fs	TPRG1L_ENST00000344579.5_Frame_Shift_Del_p.K163fs	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	222						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CCAAGCTGTCAAAAAAGCCCA	0.463																																						dbGAP											0													67.0	68.0	68.0					1																	3545009		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"""family with sequence similarity 79, member A"""	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.661delA	1.37:g.3545009delA	ENSP00000367595:p.Lys222fs		A8K1K4|Q8WV04	Frame_Shift_Del	DEL	pfam_Inositol_phosphatase	p.A223fs	ENST00000378344.2	37	c.661	CCDS47.1	1																																																																																			TPRG1L	-	NULL	ENSG00000158109		0.463	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPRG1L	HGNC	protein_coding	OTTHUMT00000001466.1	118	0.00	0	A	NM_182752		3545009	3545009	+1	no_errors	ENST00000378344	ensembl	human	known	69_37n	frame_shift_del	81	14.74	14	DEL	1.000	-
TRABD2A	129293	genome.wustl.edu	37	2	85066304	85066304	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:85066304A>G	ENST00000409520.2	-	4	1002	c.960T>C	c.(958-960)ccT>ccC	p.P320P	TRABD2A_ENST00000409133.1_Silent_p.P320P|TRABD2A_ENST00000335459.5_Silent_p.P271P	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	320					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										AGCCTTTGTCAGGGAACTCCT	0.512																																						dbGAP											0													93.0	92.0	92.0					2																	85066304		1891	4123	6014	-	-	-	SO:0001819	synonymous_variant	0			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.960T>C	2.37:g.85066304A>G			B4DKK8|I6UMB9	Silent	SNP	NULL	p.P320	ENST00000409520.2	37	c.960		2																																																																																			TRABD2A	-	NULL	ENSG00000186854		0.512	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	TRABD2A	HGNC	protein_coding		86	0.00	0	A	NM_001080824		85066304	85066304	-1	no_errors	ENST00000409520	ensembl	human	known	69_37n	silent	134	11.84	18	SNP	0.207	G
TRAF7	84231	genome.wustl.edu	37	16	2223334	2223334	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:2223334C>T	ENST00000326181.6	+	10	1078	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	316					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CGCCTTCCTGCGCTCCATGCT	0.627																																						dbGAP											0													72.0	63.0	66.0					16																	2223334		2198	4300	6498	-	-	-	SO:0001583	missense	0			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.946C>T	16.37:g.2223334C>T	ENSP00000318944:p.Arg316Cys		Q9H073	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R316C	ENST00000326181.6	37	c.946	CCDS10461.1	16	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284814	0.40394	.	.	ENSG00000131653	ENST00000326181	T	0.26067	1.76	4.6	4.6	0.57074	TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.17066	0.0410	L	0.29908	0.895	0.80722	D	1	P	0.43607	0.812	B	0.28709	0.093	T	0.09862	-1.0655	10	0.72032	D	0.01	-40.8877	16.5777	0.84705	0.0:1.0:0.0:0.0	.	316	Q6Q0C0	TRAF7_HUMAN	C	316	ENSP00000318944:R316C	ENSP00000318944:R316C	R	+	1	0	TRAF7	2163335	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.572000	0.82409	2.363000	0.80096	0.561000	0.74099	CGC	TRAF7	-	superfamily_TRAF-like	ENSG00000131653		0.627	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	HGNC	protein_coding	OTTHUMT00000250762.1	54	0.00	0	C	NM_032271		2223334	2223334	+1	no_errors	ENST00000326181	ensembl	human	known	69_37n	missense	36	13.95	6	SNP	1.000	T
TRAK1	22906	genome.wustl.edu	37	3	42166958	42166958	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:42166958G>A	ENST00000327628.5	+	2	538	c.138G>A	c.(136-138)ctG>ctA	p.L46L	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	46					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TCATTAGCCTGCTGGAGGAGC	0.502																																					GBM(44;195 884 22595 31865 41850)	dbGAP											0													81.0	79.0	79.0					3																	42166958		1947	4153	6100	-	-	-	SO:0001819	synonymous_variant	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.138G>A	3.37:g.42166958G>A			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.L46	ENST00000327628.5	37	c.138	CCDS43072.1	3																																																																																			TRAK1	-	NULL	ENSG00000182606		0.502	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	78	0.00	0	G	NM_014965		42166958	42166958	+1	no_errors	ENST00000327628	ensembl	human	putative	69_37n	silent	92	14.02	15	SNP	0.996	A
TRBV6-9	28598	genome.wustl.edu	37	7	142104368	142104368	+	RNA	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:142104368T>C	ENST00000390379.1	-	0	96									T cell receptor beta variable 6-9																		TGTCCTGTCTTCAGGATGTGG	0.542																																						dbGAP											0													113.0	103.0	106.0					7																	142104368		1934	4134	6068	-	-	-			0			X61447		7q34	2012-02-07			ENSG00000211732			"""T cell receptors / TRB locus"""	12234	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV69, TCRBV13S4, TCRBV6S9			OTTHUMG00000158905		7.37:g.142104368T>C				Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.K33E	ENST00000390379.1	37	c.97		7																																																																																			TRBV6-9	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211732		0.542	TRBV6-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV6-9	HGNC	TR_V_gene	OTTHUMT00000352517.1	196	0.00	0	T	NG_001333		142104368	142104368	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390379	ensembl	human	known	69_37n	missense	164	19.21	39	SNP	0.000	C
TRMT112	51504	genome.wustl.edu	37	11	64084564	64084564	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:64084564T>C	ENST00000544844.1	-	3	793	c.236A>G	c.(235-237)gAg>gGg	p.E79G	TRMT112_ENST00000535126.1_3'UTR|PRDX5_ENST00000265462.4_5'Flank|PRDX5_ENST00000347941.4_5'Flank|TRMT112_ENST00000535750.1_Missense_Mutation_p.E35G|TRMT112_ENST00000308774.2_Missense_Mutation_p.E74G|TRMT112_ENST00000539854.1_Missense_Mutation_p.E79G|PRDX5_ENST00000352435.4_5'Flank			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	79	TRM112.				peptidyl-glutamine methylation (GO:0018364)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protein methyltransferase activity (GO:0008276)			large_intestine(1)|upper_aerodigestive_tract(1)	2						CCTCAGAAACTCCTCATTCTC	0.602																																						dbGAP											0													73.0	68.0	70.0					11																	64084564		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF110774	CCDS8068.1, CCDS66113.1, CCDS73312.1	11q13.1	2013-07-23			ENSG00000173113	ENSG00000173113			26940	protein-coding gene	gene with protein product						11042152	Standard	NM_001286082		Approved	HSPC152, HSPC170, TRM112, TRMT11-2	uc001nzt.3	Q9UI30	OTTHUMG00000167848	ENST00000544844.1:c.236A>G	11.37:g.64084564T>C	ENSP00000438349:p.Glu79Gly		B2R539|J3KNG5|Q3MHC7|Q8N2Z4	Missense_Mutation	SNP	pfam_UPF0434/Trm112	p.E79G	ENST00000544844.1	37	c.236	CCDS8068.1	11	.	.	.	.	.	.	.	.	.	.	T	13.43	2.233625	0.39498	.	.	ENSG00000173113	ENST00000535750;ENST00000544844;ENST00000308774;ENST00000539854	.	.	.	4.16	-1.34	0.09143	.	1.206150	0.06047	N	0.655880	T	0.45935	0.1367	M	0.62088	1.915	0.09310	N	1	B	0.18863	0.031	B	0.27262	0.078	T	0.48714	-0.9011	9	0.52906	T	0.07	.	7.5	0.27511	0.0:0.0896:0.4041:0.5063	.	79	Q9UI30	TR112_HUMAN	G	35;79;74;79	.	ENSP00000309433:E74G	E	-	2	0	TRMT112	63841140	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	1.337000	0.33862	-0.328000	0.08539	0.533000	0.62120	GAG	TRMT112	-	pfam_UPF0434/Trm112	ENSG00000173113		0.602	TRMT112-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT112	HGNC	protein_coding	OTTHUMT00000396598.2	74	0.00	0	T	NM_016404		64084564	64084564	-1	no_errors	ENST00000544844	ensembl	human	known	69_37n	missense	114	16.18	22	SNP	0.001	C
TRPA1	8989	genome.wustl.edu	37	8	72968046	72968046	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:72968046delC	ENST00000262209.4	-	11	1446	c.1239delG	c.(1237-1239)gggfs	p.G413fs	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	413					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAGGAGTACACCCATCGTTGT	0.373																																						dbGAP											0													48.0	51.0	50.0					8																	72968046		2203	4297	6500	-	-	-	SO:0001589	frameshift_variant	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1239delG	8.37:g.72968046delC	ENSP00000262209:p.Gly413fs		A6NIN6	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.C414fs	ENST00000262209.4	37	c.1239	CCDS34908.1	8																																																																																			TRPA1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.373	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	122	0.00	0	C	NM_007332		72968046	72968046	-1	no_errors	ENST00000262209	ensembl	human	known	69_37n	frame_shift_del	238	12.45	34	DEL	0.877	-
TRPC6	7225	genome.wustl.edu	37	11	101324385	101324385	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:101324385G>A	ENST00000344327.3	-	12	3064	c.2640C>T	c.(2638-2640)aaC>aaT	p.N880N	TRPC6_ENST00000532133.1_Silent_p.N802N|TRPC6_ENST00000360497.4_Silent_p.N825N|TRPC6_ENST00000348423.4_Silent_p.N764N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	880					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACTCACCTTCGTTCACTTCAT	0.468																																					Colon(166;1315 1927 11094 12848 34731)	dbGAP											0													204.0	171.0	182.0					11																	101324385		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2640C>T	11.37:g.101324385G>A			Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.N880	ENST00000344327.3	37	c.2640	CCDS8311.1	11																																																																																			TRPC6	-	superfamily_ARM-type_fold,tigrfam_TRP_channel	ENSG00000137672		0.468	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	242	0.82	2	G	NM_004621		101324385	101324385	-1	no_errors	ENST00000344327	ensembl	human	known	69_37n	silent	269	11.80	36	SNP	0.996	A
TRPM2	7226	genome.wustl.edu	37	21	45819238	45819238	+	Missense_Mutation	SNP	G	G	A	rs574190384		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr21:45819238G>A	ENST00000397928.1	+	14	2567	c.2122G>A	c.(2122-2124)Gtg>Atg	p.V708M	TRPM2_ENST00000300481.9_Missense_Mutation_p.V688M|TRPM2_ENST00000300482.5_Missense_Mutation_p.V708M|TRPM2_ENST00000397932.2_Missense_Mutation_p.V708M|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	708					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTCACCCGCGTGTCCGAGGC	0.627																																						dbGAP											0													66.0	64.0	65.0					21																	45819238		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2122G>A	21.37:g.45819238G>A	ENSP00000381023:p.Val708Met		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.V708M	ENST00000397928.1	37	c.2122	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345888	0.61073	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.08	4.18	0.49190	.	0.072090	0.56097	D	0.000032	D	0.86134	0.5860	M	0.73598	2.24	0.48395	D	0.999642	D;P;D	0.63880	0.993;0.952;0.987	P;B;P	0.50405	0.64;0.406;0.487	D	0.86371	0.1723	10	0.45353	T	0.12	-27.2316	14.7886	0.69821	0.0:0.0:0.8543:0.1456	.	708;494;708	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	M	708;708;688;708	ENSP00000300482:V708M;ENSP00000381023:V708M;ENSP00000300481:V688M;ENSP00000381026:V708M	ENSP00000300481:V688M	V	+	1	0	TRPM2	44643666	0.985000	0.35326	0.093000	0.20910	0.796000	0.44982	1.884000	0.39668	1.108000	0.41662	0.555000	0.69702	GTG	TRPM2	-	NULL	ENSG00000142185		0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	13	0.00	0	G	NM_003307		45819238	45819238	+1	no_errors	ENST00000300482	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	0.983	A
TRPM5	29850	genome.wustl.edu	37	11	2434054	2434055	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:2434054_2434055insG	ENST00000155858.6	-	15	2292_2293	c.2284_2285insC	c.(2284-2286)cagfs	p.Q762fs	TRPM5_ENST00000533060.1_Frame_Shift_Ins_p.Q762fs|TRPM5_ENST00000452833.1_Frame_Shift_Ins_p.Q764fs|TRPM5_ENST00000528453.1_Frame_Shift_Ins_p.Q762fs	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAGGGGCCCTGGGGGGGCGGC	0.639																																					NSCLC(1;49 61 17205 18850 43201)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2285dupC	11.37:g.2434061_2434061dupG	ENSP00000155858:p.Gln762fs			Frame_Shift_Ins	INS	superfamily_Ankyrin_rpt-contain_dom	p.Q764fs	ENST00000155858.6	37	c.2291_2290	CCDS31340.1	11																																																																																			TRPM5	-	NULL	ENSG00000070985		0.639	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	16	0.00	0	-	NM_014555		2434054	2434055	-1	no_errors	ENST00000452833	ensembl	human	known	69_37n	frame_shift_ins	26	13.33	4	INS	0.009:0.011	G
TRPM8	79054	genome.wustl.edu	37	2	234846052	234846052	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:234846052A>T	ENST00000324695.4	+	4	287	c.247A>T	c.(247-249)Atc>Ttc	p.I83F	TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Missense_Mutation_p.I6F|TRPM8_ENST00000355722.4_Missense_Mutation_p.I33F	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	83					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGGCACCCAGATCAACCAAAG	0.483																																						dbGAP											0													136.0	123.0	127.0					2																	234846052		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.247A>T	2.37:g.234846052A>T	ENSP00000323926:p.Ile83Phe		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.I83F	ENST00000324695.4	37	c.247	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	A	7.314	0.615607	0.14129	.	.	ENSG00000144481	ENST00000324695;ENST00000355722;ENST00000409625	T;T;T	0.66099	-0.19;-0.19;-0.19	5.86	-0.469	0.12142	.	0.315918	0.30455	N	0.009585	T	0.46171	0.1379	L	0.38531	1.155	0.80722	D	1	B;B	0.29627	0.252;0.026	B;B	0.34779	0.189;0.015	T	0.18903	-1.0322	10	0.09843	T	0.71	-15.8659	9.6355	0.39804	0.6426:0.0:0.3574:0.0	.	33;83	Q7Z2W7-2;Q7Z2W7	.;TRPM8_HUMAN	F	83;33;6	ENSP00000323926:I83F;ENSP00000347956:I33F;ENSP00000386771:I6F	ENSP00000323926:I83F	I	+	1	0	TRPM8	234510791	0.153000	0.22777	0.977000	0.42913	0.480000	0.33159	-0.102000	0.10956	-0.293000	0.08986	0.482000	0.46254	ATC	TRPM8	-	NULL	ENSG00000144481		0.483	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	78	0.00	0	A	NM_024080		234846052	234846052	+1	no_errors	ENST00000324695	ensembl	human	known	69_37n	missense	70	16.67	14	SNP	0.990	T
TRRAP	8295	genome.wustl.edu	37	7	98524910	98524910	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:98524910G>T	ENST00000359863.4	+	23	3305	c.3096G>T	c.(3094-3096)aaG>aaT	p.K1032N	TRRAP_ENST00000355540.3_Missense_Mutation_p.K1032N|TRRAP_ENST00000446306.3_Missense_Mutation_p.K1031N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1032					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGTCATTAAGGACCTGCGGC	0.602																																						dbGAP											0													53.0	54.0	54.0					7																	98524910		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3096G>T	7.37:g.98524910G>T	ENSP00000352925:p.Lys1032Asn		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.K1032N	ENST00000359863.4	37	c.3096	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.061754|3.061754	0.55432|0.55432	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.64438|.	-0.1;-0.1|.	5.51|5.51	-4.76|-4.76	0.03229|0.03229	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58750|0.58750	0.2144|0.2144	L|L	0.38953|0.38953	1.18|1.18	0.58432|0.58432	D|D	0.999998|0.999998	P;P;P|.	0.50272|.	0.933;0.676;0.476|.	P;B;B|.	0.50049|.	0.629;0.271;0.206|.	T|T	0.57010|0.57010	-0.7884|-0.7884	10|5	0.36615|.	T|.	0.2|.	.|.	17.9471|17.9471	0.89042|0.89042	0.3185:0.0:0.6815:0.0|0.3185:0.0:0.6815:0.0	.|.	1032;746;1032|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	N|M	1032;1032;1030|747	ENSP00000352925:K1032N;ENSP00000347733:K1032N|.	ENSP00000347733:K1032N|.	K|R	+|+	3|2	2|0	TRRAP|TRRAP	98362846|98362846	0.781000|0.781000	0.28676|0.28676	0.209000|0.209000	0.23619|0.23619	0.515000|0.515000	0.34225|0.34225	-0.074000|-0.074000	0.11450|0.11450	-0.768000|-0.768000	0.04626|0.04626	-0.482000|-0.482000	0.04802|0.04802	AAG|AGG	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.602	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	42	0.00	0	G	NM_003496		98524910	98524910	+1	no_errors	ENST00000359863	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	0.977	T
TSGA10	80705	genome.wustl.edu	37	2	99722087	99722087	+	Missense_Mutation	SNP	T	T	G	rs41280585	byFrequency	TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:99722087T>G	ENST00000393483.3	-	8	1128	c.284A>C	c.(283-285)cAt>cCt	p.H95P	TSGA10_ENST00000410001.1_Missense_Mutation_p.H95P|TSGA10_ENST00000539964.1_Missense_Mutation_p.H95P|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Missense_Mutation_p.H95P|TSGA10_ENST00000355053.4_Missense_Mutation_p.H95P	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	95					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GAGAATAGCATGTGCCGTTGT	0.413																																						dbGAP											0													236.0	228.0	231.0					2																	99722087		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.284A>C	2.37:g.99722087T>G	ENSP00000377123:p.His95Pro		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.H95P	ENST00000393483.3	37	c.284	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395352	0.62066	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.91;0.91	4.99	4.99	0.66335	.	0.104156	0.42964	D	0.000632	T	0.34687	0.0906	L	0.39898	1.24	0.37493	D	0.916474	P;P	0.48294	0.908;0.908	B;B	0.39503	0.301;0.301	T	0.46386	-0.9195	10	0.62326	D	0.03	-11.6481	13.6864	0.62520	0.0:0.0:0.0:1.0	.	95;95	B7Z925;Q9BZW7	.;TSG10_HUMAN	P	95	ENSP00000377123:H95P;ENSP00000386956:H95P;ENSP00000347161:H95P;ENSP00000444419:H95P;ENSP00000386508:H95P;ENSP00000377122:H95P	ENSP00000347161:H95P	H	-	2	0	TSGA10	99088519	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.107000	0.71517	2.101000	0.63845	0.529000	0.55759	CAT	TSGA10	-	NULL	ENSG00000135951		0.413	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	300	0.00	0	T	NM_182911		99722087	99722087	-1	no_errors	ENST00000355053	ensembl	human	known	69_37n	missense	352	12.87	52	SNP	1.000	G
TSHZ3	57616	genome.wustl.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)ggcfs	p.G546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559																																						dbGAP											0										4,4260		0,4,2128						4.2	1.0			120	7,8247		0,7,4120	no	frameshift	TSHZ3	NM_020856.2		0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879				11,12507				-	-	-	SO:0001589	frameshift_variant	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1638dupG	19.37:g.31769068_31769068dupC	ENSP00000240587:p.Gly546fs		Q9H0G6|Q9P254	Frame_Shift_Ins	INS	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Y547fs	ENST00000240587.4	37	c.1638_1637	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.559	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	90	0.00	0	-	NM_020856		31769061	31769062	-1	no_errors	ENST00000240587	ensembl	human	known	69_37n	frame_shift_ins	85	11.46	11	INS	1.000:1.000	C
TSHZ3	57616	genome.wustl.edu	37	19	31769191	31769191	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:31769191T>C	ENST00000240587.4	-	2	1835	c.1508A>G	c.(1507-1509)aAa>aGa	p.K503R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	503					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTAATGGTATTTGGAAGAGAT	0.453																																						dbGAP											0													158.0	163.0	161.0					19																	31769191		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1508A>G	19.37:g.31769191T>C	ENSP00000240587:p.Lys503Arg		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.K503R	ENST00000240587.4	37	c.1508	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952739	0.53293	.	.	ENSG00000121297	ENST00000240587	T	0.46063	0.88	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	M	0.64404	1.975	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.56805	-0.7918	10	0.28530	T	0.3	-29.3556	15.7178	0.77681	0.0:0.0:0.0:1.0	.	503	Q63HK5	TSH3_HUMAN	R	503	ENSP00000240587:K503R	ENSP00000240587:K503R	K	-	2	0	TSHZ3	36461031	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.671000	0.83941	2.099000	0.63709	0.533000	0.62120	AAA	TSHZ3	-	NULL	ENSG00000121297		0.453	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	85	0.00	0	T	NM_020856		31769191	31769191	-1	no_errors	ENST00000240587	ensembl	human	known	69_37n	missense	54	25.00	18	SNP	1.000	C
CENPT	80152	genome.wustl.edu	37	16	67859647	67859647	+	IGR	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:67859647G>C	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.E229Q|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.E298Q|TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.E244Q	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E244K(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CACGCAGATGGAACTCAACAA	0.572																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											104.0	112.0	109.0					16																	67859647		2103	4250	6353	-	-	-	SO:0001628	intergenic_variant	0			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67859647G>C			Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	NULL	p.E244Q	ENST00000562787.1	37	c.730	CCDS42182.1	16	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725442	0.68959	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	5.7	5.7	0.88788	.	0.083367	0.47852	D	0.000220	T	0.66157	0.2761	M	0.64997	1.995	0.34108	D	0.66266	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;P;P;P	0.63033	0.91;0.88;0.88;0.88	T	0.76181	-0.3053	9	0.62326	D	0.03	-17.6965	12.3218	0.54989	0.0796:0.0:0.9204:0.0	.	229;298;34;244	E7ENJ7;B4DXD0;B4DY78;Q2TAA8	.;.;.;TXIP1_HUMAN	Q	229;244;34	.	ENSP00000373485:E244Q	E	+	1	0	TSNAXIP1	66417148	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.884000	0.63135	2.679000	0.91253	0.655000	0.94253	GAA	TSNAXIP1	-	NULL	ENSG00000102904		0.572	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAXIP1	HGNC	protein_coding	OTTHUMT00000422020.1	57	0.00	0	G	NM_025082		67859647	67859647	+1	no_errors	ENST00000388833	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179468913	179468913	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:179468913A>G	ENST00000591111.1	-	232	49802	c.49578T>C	c.(49576-49578)ccT>ccC	p.P16526P	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P9294P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.P18167P|TTN_ENST00000342992.6_Silent_p.P15599P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.P9227P|TTN_ENST00000460472.2_Silent_p.P9102P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16526					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)			CTGGAGGTCCAGGAAGGCGAT	0.453																																						dbGAP											0													119.0	116.0	117.0					2																	179468913		1922	4130	6052	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49578T>C	2.37:g.179468913A>G			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	Silent	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.P15599	ENST00000591111.1	37	c.46797		2																																																																																			TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	116	0.00	0	A	NM_133378		179468913	179468913	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	107	19.40	26	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179473134	179473134	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:179473134A>G	ENST00000591111.1	-	225	47777	c.47553T>C	c.(47551-47553)aaT>aaC	p.N15851N	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.N8619N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.N17492N|TTN_ENST00000342992.6_Silent_p.N14924N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.N8552N|TTN_ENST00000460472.2_Silent_p.N8427N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15851	Fibronectin type-III 15. {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)			CTTTTGGTTCATTCCATTTCA	0.388																																						dbGAP											0													47.0	41.0	43.0					2																	179473134		1874	4107	5981	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47553T>C	2.37:g.179473134A>G			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	Silent	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.N14924	ENST00000591111.1	37	c.44772		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	88	0.00	0	A	NM_133378		179473134	179473134	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	28	65.43	53	SNP	0.997	G
TUBA1C	84790	genome.wustl.edu	37	12	49666773	49666773	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:49666773A>G	ENST00000301072.6	+	4	1388	c.1113A>G	c.(1111-1113)gtA>gtG	p.V371V	TUBA1C_ENST00000541364.1_Silent_p.V441V|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	371					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						TGGCCAAGGTACAGAGAGCTG	0.567																																						dbGAP											0													77.0	65.0	69.0					12																	49666773		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.1113A>G	12.37:g.49666773A>G				Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.V371	ENST00000301072.6	37	c.1113	CCDS8782.1	12																																																																																			TUBA1C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Delta_tubulin	ENSG00000167553		0.567	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1C	HGNC	protein_coding	OTTHUMT00000404424.1	114	0.00	0	A	NM_032704		49666773	49666773	+1	no_errors	ENST00000301072	ensembl	human	known	69_37n	silent	63	22.22	18	SNP	0.773	G
TUBA3D	113457	genome.wustl.edu	37	2	132235782	132235782	+	Missense_Mutation	SNP	G	G	A	rs530707778		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:132235782G>A	ENST00000321253.6	+	2	156	c.49G>A	c.(49-51)Ggc>Agc	p.G17S		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	17					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TGTCCAGATCGGCAATGCCTG	0.502													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17532	0.0		0.0	False		,,,				2504	0.0				Ovarian(137;2059 2432 35543 39401)	dbGAP											0													86.0	84.0	84.0					2																	132235782		2203	4297	6500	-	-	-	SO:0001583	missense	0			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.49G>A	2.37:g.132235782G>A	ENSP00000326042:p.Gly17Ser		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.G17S	ENST00000321253.6	37	c.49	CCDS33290.1	2	.	.	.	.	.	.	.	.	.	.	g	14.43	2.533744	0.45073	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.73681	-0.77	2.47	2.47	0.30058	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.47093	U	0.000245	D	0.87075	0.6087	M	0.91612	3.225	0.50313	D	0.999863	D	0.60575	0.988	D	0.83275	0.996	D	0.88664	0.3191	10	0.87932	D	0	.	10.6576	0.45684	0.0:0.0:1.0:0.0	.	17	Q13748	TBA3C_HUMAN	S	17	ENSP00000326042:G17S	ENSP00000326042:G17S	G	+	1	0	TUBA3D	131952252	1.000000	0.71417	0.999000	0.59377	0.470000	0.32858	8.387000	0.90167	1.376000	0.46267	0.194000	0.17425	GGC	TUBA3D	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin	ENSG00000075886		0.502	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2	134	0.74	1	G	NM_080386		132235782	132235782	+1	no_errors	ENST00000321253	ensembl	human	known	69_37n	missense	122	12.23	17	SNP	1.000	A
TWSG1	57045	genome.wustl.edu	37	18	9360001	9360001	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr18:9360001A>T	ENST00000262120.5	+	3	346	c.155A>T	c.(154-156)aAt>aTt	p.N52I	TWSG1_ENST00000581641.1_Missense_Mutation_p.N52I	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	52	Cys-rich.				BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						GGAGAAGGCAATTGCTCCTGC	0.443																																						dbGAP											0													119.0	112.0	114.0					18																	9360001		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.155A>T	18.37:g.9360001A>T	ENSP00000262120:p.Asn52Ile		B2RE08|D3DUH9|Q8NBI7|Q96K46	Missense_Mutation	SNP	pfam_Tsg	p.N52I	ENST00000262120.5	37	c.155	CCDS11844.1	18	.	.	.	.	.	.	.	.	.	.	A	26.0	4.695664	0.88830	.	.	ENSG00000128791	ENST00000262120	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.76800	0.4038	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.79232	-0.1888	9	0.87932	D	0	-33.8805	14.4302	0.67243	1.0:0.0:0.0:0.0	.	52	Q9GZX9	TWSG1_HUMAN	I	52	.	ENSP00000262120:N52I	N	+	2	0	TWSG1	9350001	1.000000	0.71417	0.306000	0.25113	0.896000	0.52359	6.849000	0.75414	2.288000	0.76882	0.529000	0.55759	AAT	TWSG1	-	NULL	ENSG00000128791		0.443	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWSG1	HGNC	protein_coding	OTTHUMT00000254480.2	146	0.68	1	A			9360001	9360001	+1	no_errors	ENST00000262120	ensembl	human	known	69_37n	missense	138	22.03	39	SNP	1.000	T
U2SURP	23350	genome.wustl.edu	37	3	142754861	142754861	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:142754861delG	ENST00000473835.2	+	20	2069	c.1979delG	c.(1978-1980)tggfs	p.W660fs	U2SURP_ENST00000397933.2_Frame_Shift_Del_p.W251fs|U2SURP_ENST00000493598.2_Frame_Shift_Del_p.W659fs	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	660	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TGGGAAGATTGGGCAATTTAT	0.343																																						dbGAP											0													82.0	76.0	78.0					3																	142754861		1817	4072	5889	-	-	-	SO:0001589	frameshift_variant	0			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1979delG	3.37:g.142754861delG	ENSP00000418563:p.Trp660fs		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Frame_Shift_Del	DEL	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom	p.A661fs	ENST00000473835.2	37	c.1979	CCDS46928.1	3																																																																																			U2SURP	-	superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	ENSG00000163714		0.343	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	HGNC	protein_coding	OTTHUMT00000354603.2	153	0.00	0	G	NM_001080415		142754861	142754861	+1	no_errors	ENST00000319822	ensembl	human	known	69_37n	frame_shift_del	138	38.77	88	DEL	1.000	-
UBA7	7318	genome.wustl.edu	37	3	49850974	49850974	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:49850974C>A	ENST00000333486.3	-	2	321	c.163G>T	c.(163-165)Ggt>Tgt	p.G55C	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	55	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGCCCACACCCATCAGAACC	0.657																																						dbGAP											0													61.0	63.0	62.0					3																	49850974		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.163G>T	3.37:g.49850974C>A	ENSP00000333266:p.Gly55Cys		Q9BRB2	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.G55C	ENST00000333486.3	37	c.163	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329796	0.81690	.	.	ENSG00000182179	ENST00000333486	D	0.87491	-2.26	4.95	4.95	0.65309	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95893	0.8663	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97282	0.9918	10	0.87932	D	0	-18.2853	17.3529	0.87329	0.0:1.0:0.0:0.0	.	55	P41226	UBA7_HUMAN	C	55	ENSP00000333266:G55C	ENSP00000333266:G55C	G	-	1	0	UBA7	49825978	1.000000	0.71417	0.985000	0.45067	0.531000	0.34715	6.906000	0.75719	2.569000	0.86673	0.462000	0.41574	GGT	UBA7	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	ENSG00000182179		0.657	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA7	HGNC	protein_coding	OTTHUMT00000350503.1	25	0.00	0	C	NM_003335		49850974	49850974	-1	no_errors	ENST00000333486	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	1.000	A
UBE3B	89910	genome.wustl.edu	37	12	109959091	109959091	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr12:109959091A>T	ENST00000342494.3	+	20	2810	c.2215A>T	c.(2215-2217)Atc>Ttc	p.I739F	UBE3B_ENST00000434735.2_Missense_Mutation_p.I739F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	739	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGAAGAGATCATCAAGAGAGT	0.488																																						dbGAP											0													149.0	149.0	149.0					12																	109959091		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2215A>T	12.37:g.109959091A>T	ENSP00000340596:p.Ile739Phe		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.I739F	ENST00000342494.3	37	c.2215	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	A	34	5.303242	0.95601	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.57907	0.37;0.37;0.37	5.53	5.53	0.82687	HECT (4);	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	M	0.71036	2.16	0.80722	D	1	P	0.49862	0.929	P	0.56343	0.796	T	0.71237	-0.4652	10	0.72032	D	0.01	-1.6634	15.1201	0.72434	1.0:0.0:0.0:0.0	.	739	Q7Z3V4	UBE3B_HUMAN	F	739;739;739;166;34	ENSP00000391529:I739F;ENSP00000443131:I739F;ENSP00000340596:I739F	ENSP00000340596:I739F	I	+	1	0	UBE3B	108443474	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.832000	0.92079	2.221000	0.72209	0.533000	0.62120	ATC	UBE3B	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000151148		0.488	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	121	0.00	0	A	NM_183415		109959091	109959091	+1	no_errors	ENST00000342494	ensembl	human	known	69_37n	missense	73	18.89	17	SNP	1.000	T
UBN2	254048	genome.wustl.edu	37	7	138967905	138967905	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:138967905C>A	ENST00000473989.3	+	15	2254	c.2254C>A	c.(2254-2256)Ctc>Atc	p.L752I	UBN2_ENST00000288561.8_Missense_Mutation_p.L669I	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	752						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AACCATCTGCCTCGACGACTC	0.527																																						dbGAP											0													132.0	132.0	132.0					7																	138967905		2013	4172	6185	-	-	-	SO:0001583	missense	0			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2254C>A	7.37:g.138967905C>A	ENSP00000418648:p.Leu752Ile		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	NULL	p.L752I	ENST00000473989.3	37	c.2254	CCDS43655.2	7	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241926	0.58995	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.37058	1.23;1.22	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000006	T	0.58524	0.2128	M	0.77103	2.36	0.48341	D	0.999633	D	0.69078	0.997	D	0.72625	0.978	T	0.60596	-0.7232	10	0.56958	D	0.05	-10.1339	10.9796	0.47486	0.0:0.8876:0.0:0.1124	.	752	Q6ZU65	UBN2_HUMAN	I	752;669	ENSP00000418648:L752I;ENSP00000288561:L669I	ENSP00000288561:L669I	L	+	1	0	UBN2	138618445	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.961000	0.40432	2.733000	0.93635	0.467000	0.42956	CTC	UBN2	-	NULL	ENSG00000157741		0.527	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	HGNC	protein_coding	OTTHUMT00000349272.3	115	0.00	0	C	NM_173569		138967905	138967905	+1	no_errors	ENST00000473989	ensembl	human	known	69_37n	missense	77	18.95	18	SNP	1.000	A
UBQLN1	29979	genome.wustl.edu	37	9	86294875	86294875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:86294875G>A	ENST00000376395.4	-	4	1049	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	UBQLN1_ENST00000257468.7_Nonsense_Mutation_p.Q176*	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	176					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						AGTTGTCGCTGCATCTGACTC	0.448																																					Melanoma(186;1284 2073 12755 14558 18426)	dbGAP											0													138.0	132.0	134.0					9																	86294875		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.526C>T	9.37:g.86294875G>A	ENSP00000365576:p.Gln176*		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Nonsense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.Q176*	ENST00000376395.4	37	c.526	CCDS6663.1	9	.	.	.	.	.	.	.	.	.	.	G	42	9.428460	0.99167	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	.	.	.	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.8148	0.96562	0.0:0.0:1.0:0.0	.	.	.	.	X	176	.	ENSP00000257468:Q176X	Q	-	1	0	UBQLN1	85484695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.687000	0.91594	0.650000	0.86243	CAG	UBQLN1	-	NULL	ENSG00000135018		0.448	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	UBQLN1	HGNC	protein_coding	OTTHUMT00000052834.1	93	0.00	0	G	NM_013438		86294875	86294875	-1	no_errors	ENST00000376395	ensembl	human	known	69_37n	nonsense	71	31.07	32	SNP	1.000	A
UPF2	26019	genome.wustl.edu	37	10	11963302	11963302	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:11963302G>A	ENST00000356352.2	-	21	4287	c.3814C>T	c.(3814-3816)Cgt>Tgt	p.R1272C	UPF2_ENST00000357604.5_Missense_Mutation_p.R1272C|UPF2_ENST00000397053.2_Missense_Mutation_p.R1272C|RNU6-1095P_ENST00000516148.1_RNA			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1272	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTGGATCAACGTCTCCTAAAG	0.498																																						dbGAP											0													240.0	200.0	214.0					10																	11963302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3814C>T	10.37:g.11963302G>A	ENSP00000348708:p.Arg1272Cys		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.R1272C	ENST00000356352.2	37	c.3814	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564410	0.45694	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.54071	0.59;0.59;0.59	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	N	0.19112	0.55	0.54753	D	0.999988	D	0.56287	0.975	B	0.40659	0.336	T	0.51068	-0.8752	10	0.87932	D	0	.	19.4173	0.94706	0.0:0.0:1.0:0.0	.	1272	Q9HAU5	RENT2_HUMAN	C	1272	ENSP00000348708:R1272C;ENSP00000350221:R1272C;ENSP00000380244:R1272C	ENSP00000348708:R1272C	R	-	1	0	UPF2	12003308	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.580000	0.87095	0.655000	0.94253	CGT	UPF2	-	NULL	ENSG00000151461		0.498	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	127	0.00	0	G			11963302	11963302	-1	no_errors	ENST00000356352	ensembl	human	known	69_37n	missense	109	18.66	25	SNP	1.000	A
USP26	83844	genome.wustl.edu	37	X	132159686	132159686	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chrX:132159686A>G	ENST00000511190.1	-	6	3032	c.2563T>C	c.(2563-2565)Ttc>Ctc	p.F855L	USP26_ENST00000370832.1_Missense_Mutation_p.F855L|USP26_ENST00000406273.1_Missense_Mutation_p.F855L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	855	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCGTAAGTGAACCAGATCTGT	0.453																																					NSCLC(104;342 1621 36940 47097 52632)	dbGAP											0													153.0	128.0	136.0					X																	132159686		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2563T>C	X.37:g.132159686A>G	ENSP00000423390:p.Phe855Leu		B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.F855L	ENST00000511190.1	37	c.2563	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894581	0.33442	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.73469	-0.75;-0.75;-0.75	3.91	2.74	0.32292	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.202042	0.24949	N	0.034313	T	0.60483	0.2272	L	0.35288	1.05	0.31784	N	0.630574	B	0.16603	0.018	B	0.25405	0.06	T	0.57723	-0.7762	10	0.32370	T	0.25	-7.3962	7.0093	0.24853	0.885:0.0:0.115:0.0	.	855	Q9BXU7	UBP26_HUMAN	L	855	ENSP00000359869:F855L;ENSP00000423390:F855L;ENSP00000384360:F855L	ENSP00000359869:F855L	F	-	1	0	USP26	131987352	1.000000	0.71417	0.908000	0.35775	0.549000	0.35272	2.489000	0.45285	0.655000	0.30866	-0.466000	0.05196	TTC	USP26	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000134588		0.453	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	170	0.00	0	A	NM_031907		132159686	132159686	-1	no_errors	ENST00000370832	ensembl	human	known	69_37n	missense	199	17.43	42	SNP	1.000	G
USP34	9736	genome.wustl.edu	37	2	61430400	61430400	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:61430400T>C	ENST00000398571.2	-	75	9461		c.e75-2		RP11-493E12.2_ENST00000609422.1_RNA	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATCTTTGCCCTGAAGGTTAAA	0.308																																						dbGAP											0													91.0	82.0	84.0					2																	61430400		1837	4085	5922	-	-	-	SO:0001630	splice_region_variant	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9385-2A>G	2.37:g.61430400T>C			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Splice_Site	SNP	-	e75-2	ENST00000398571.2	37	c.9385-2	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	T	16.30	3.084208	0.55861	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1912	0.73047	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP34	61283904	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	1.981000	0.57761	0.377000	0.23210	.	USP34	-	-	ENSG00000115464		0.308	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	115	0.00	0	T		Intron	61430400	61430400	-1	no_errors	ENST00000398571	ensembl	human	known	69_37n	splice_site	103	14.17	17	SNP	1.000	C
USP39	10713	genome.wustl.edu	37	2	85866465	85866465	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:85866465A>G	ENST00000323701.6	+	9	1245	c.1235A>G	c.(1234-1236)cAa>cGa	p.Q412R	USP39_ENST00000409470.1_Missense_Mutation_p.Q412R|USP39_ENST00000450066.2_Missense_Mutation_p.Q309R|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Missense_Mutation_p.Q412R|USP39_ENST00000409025.1_Missense_Mutation_p.Q412R	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	412	USP.				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						ATCATTCCCCAAGTGCCACTC	0.522																																						dbGAP											0													141.0	114.0	123.0					2																	85866465		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1235A>G	2.37:g.85866465A>G	ENSP00000312981:p.Gln412Arg		A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.Q412R	ENST00000323701.6	37	c.1235	CCDS33234.1	2	.	.	.	.	.	.	.	.	.	.	A	27.2	4.807438	0.90623	.	.	ENSG00000168883	ENST00000450066;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.30714	1.52;4.15;1.52;1.52;1.52	5.75	5.75	0.90469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.90977	3.165	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.995	D;D;D;D;D;D	0.97110	0.996;0.994;0.999;0.999;1.0;0.955	T	0.71771	-0.4492	10	0.62326	D	0.03	-13.941	13.994	0.64386	1.0:0.0:0.0:0.0	.	309;334;412;412;412;412	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	R	309;412;412;412;412	ENSP00000396133:Q309R;ENSP00000386572:Q412R;ENSP00000386864:Q412R;ENSP00000312981:Q412R;ENSP00000386803:Q412R	ENSP00000312981:Q412R	Q	+	2	0	USP39	85719976	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.810000	0.91950	2.197000	0.70478	0.533000	0.62120	CAA	USP39	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000168883		0.522	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1	118	0.00	0	A	NM_006590		85866465	85866465	+1	no_errors	ENST00000409470	ensembl	human	known	69_37n	missense	159	12.57	23	SNP	1.000	G
UVRAG	7405	genome.wustl.edu	37	11	75694431	75694431	+	Splice_Site	DEL	A	A	-	rs369320979		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr11:75694431delA	ENST00000356136.3	+	8	941	c.700delA	c.(700-702)aaa>aa	p.K236fs	UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000528420.1_Splice_Site_p.K135fs|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000539288.1_5'Flank	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	236					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATTTATTTAGAAAAAAAAAAG	0.303																																						dbGAP											0										54,85,4123		1,0,52,3,79,1996	23.0	27.0	26.0			5.6	1.0	11		25	73,129,8046		0,0,73,4,121,3926	no	codingComplex-near-splice	UVRAG	NM_003369.3		1,0,125,7,200,5922	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4491,3.2614,2.7258			75694431	127,214,12169	2199	4293	6492	-	-	-	SO:0001630	splice_region_variant	0			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.700-1A>-	11.37:g.75694431delA			B3KTC1|O00392	Frame_Shift_Del	DEL	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.S237fs	ENST00000356136.3	37	c.700	CCDS8241.1	11																																																																																			UVRAG	-	NULL	ENSG00000198382		0.303	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	41	0.00	0	A	NM_003369	Frame_Shift_Del	75694431	75694431	+1	no_errors	ENST00000356136	ensembl	human	known	69_37n	frame_shift_del	32	23.81	10	DEL	1.000	-
UVSSA	57654	genome.wustl.edu	37	4	1343345	1343345	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:1343345C>T	ENST00000389851.4	+	3	579	c.132C>T	c.(130-132)cgC>cgT	p.R44R	UVSSA_ENST00000507531.1_Silent_p.R44R|UVSSA_ENST00000511216.1_Silent_p.R44R	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	44	VHS-like.				protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GCGCCTACCGCCTGCTGATAG	0.637																																						dbGAP											0													65.0	58.0	61.0					4																	1343345		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.132C>T	4.37:g.1343345C>T			A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	pfam_DUF2043,superfamily_ENTH_VHS	p.R44	ENST00000389851.4	37	c.132	CCDS33938.1	4																																																																																			UVSSA	-	superfamily_ENTH_VHS	ENSG00000163945		0.637	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVSSA	HGNC	protein_coding	OTTHUMT00000359480.1	64	0.00	0	C	NM_020894		1343345	1343345	+1	no_errors	ENST00000389851	ensembl	human	known	69_37n	silent	33	34.00	17	SNP	1.000	T
IFI35	3430	genome.wustl.edu	37	17	41168369	41168369	+	IGR	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:41168369C>T	ENST00000415816.2	+	0	1241				VAT1_ENST00000420567.3_Silent_p.Q217Q|VAT1_ENST00000587173.1_Silent_p.Q283Q|VAT1_ENST00000355653.3_Silent_p.Q351Q	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		TGATGTGGCCCTGGTTGTACA	0.607																																						dbGAP											0													74.0	67.0	69.0					17																	41168369		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720		17.37:g.41168369C>T			C9JGX1|Q92984|Q99537|Q9BV98	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.Q351	ENST00000415816.2	37	c.1053		17																																																																																			VAT1	-	smart_PKS_ER	ENSG00000108828		0.607	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	VAT1	HGNC	protein_coding	OTTHUMT00000395851.1	41	0.00	0	C	NM_005533		41168369	41168369	-1	no_errors	ENST00000355653	ensembl	human	known	69_37n	silent	26	44.68	21	SNP	1.000	T
VEPH1	79674	genome.wustl.edu	37	3	157081227	157081227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:157081227delT	ENST00000362010.2	-	9	1968	c.1661delA	c.(1660-1662)aacfs	p.N554fs	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Frame_Shift_Del_p.N554fs|VEPH1_ENST00000392832.2_Frame_Shift_Del_p.N554fs|VEPH1_ENST00000543418.1_Frame_Shift_Del_p.N554fs	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTTGCTGAGGTTTTTTTTTAA	0.393																																						dbGAP											0									,,	0,2,4264		0,0,0,0,2,2131	156.0	159.0	158.0		,,	1.2	1.0	3		159	2,3,8247		0,0,2,1,1,4122	no	codingComplex,codingComplex,codingComplex	VEPH1	NM_024621.2,NM_001167912.1,NM_001167911.1	,,	0,0,2,1,3,6253	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.0469,0.0559	,,	,,	157081227	2,5,12511	2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1661delA	3.37:g.157081227delT	ENSP00000354919:p.Asn554fs		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N554fs	ENST00000362010.2	37	c.1661	CCDS3179.1	3																																																																																			VEPH1	-	NULL	ENSG00000197415		0.393	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	162	0.00	0	T	NM_024621		157081227	157081227	-1	no_errors	ENST00000362010	ensembl	human	known	69_37n	frame_shift_del	248	13.24	38	DEL	1.000	-
VIL1	7429	genome.wustl.edu	37	2	219314015	219314015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:219314015C>T	ENST00000248444.5	+	20	2528	c.2440C>T	c.(2440-2442)Cga>Tga	p.R814*	VIL1_ENST00000392114.2_Nonsense_Mutation_p.R503*	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	814	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.|Headpiece.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTCTGCCTCGATGGAAGCA	0.468																																						dbGAP											0													199.0	203.0	201.0					2																	219314015		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2440C>T	2.37:g.219314015C>T	ENSP00000248444:p.Arg814*		B2R9A7|Q53S11|Q96AC8	Nonsense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.R814*	ENST00000248444.5	37	c.2440	CCDS2417.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.532765	0.96446	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	.	.	.	4.64	2.72	0.32119	.	0.983847	0.08280	N	0.970070	.	.	.	.	.	.	0.53688	D	0.999975	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.1372	2.7164	0.05188	0.332:0.4134:0.1612:0.0935	.	.	.	.	X	814;503	.	ENSP00000248444:R814X	R	+	1	2	VIL1	219022259	0.071000	0.21146	1.000000	0.80357	0.955000	0.61496	0.653000	0.24902	1.154000	0.42482	0.462000	0.41574	CGA	VIL1	-	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	ENSG00000127831		0.468	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3	95	0.00	0	C	NM_007127		219314015	219314015	+1	no_errors	ENST00000248444	ensembl	human	known	69_37n	nonsense	79	20.20	20	SNP	0.845	T
VIPR1	7433	genome.wustl.edu	37	3	42567418	42567418	+	Missense_Mutation	SNP	C	C	T	rs201936099		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr3:42567418C>T	ENST00000325123.4	+	4	445	c.332C>T	c.(331-333)aCg>aTg	p.T111M	VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1_ENST00000438259.2_5'UTR|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.T64M|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.T70M|VIPR1-AS1_ENST00000593611.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	111					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GAAGGCTGGACGCACCTGGAG	0.652													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18040	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													81.0	61.0	67.0					3																	42567418		2203	4300	6503	-	-	-	SO:0001583	missense	0			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.332C>T	3.37:g.42567418C>T	ENSP00000327246:p.Thr111Met		A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.T111M	ENST00000325123.4	37	c.332	CCDS2698.1	3	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009043	0.54361	.	.	ENSG00000114812	ENST00000433647;ENST00000450274;ENST00000543411;ENST00000439731;ENST00000325123	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	4.06	4.06	0.47325	GPCR, family 2, extracellular hormone receptor domain (3);	0.057745	0.64402	D	0.000002	T	0.53158	0.1779	L	0.54323	1.7	0.80722	D	1	P;B;P	0.42908	0.793;0.145;0.721	P;B;B	0.44897	0.463;0.07;0.315	T	0.60281	-0.7294	10	0.66056	D	0.02	.	13.5927	0.61969	0.0:1.0:0.0:0.0	.	84;64;111	B4DNY6;F5H1F5;P32241	.;.;VIPR1_HUMAN	M	70;70;64;111;111	ENSP00000394950:T70M;ENSP00000415013:T70M;ENSP00000445701:T64M;ENSP00000403478:T111M;ENSP00000327246:T111M	ENSP00000327246:T111M	T	+	2	0	VIPR1	42542422	0.850000	0.29656	0.904000	0.35570	0.459000	0.32528	2.162000	0.42367	2.256000	0.74724	0.462000	0.41574	ACG	VIPR1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_VIP_rcpt	ENSG00000114812		0.652	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR1	HGNC	protein_coding	OTTHUMT00000254728.4	42	0.00	0	C	NM_004624		42567418	42567418	+1	no_errors	ENST00000325123	ensembl	human	known	69_37n	missense	44	12.00	6	SNP	0.976	T
VPS13A	23230	genome.wustl.edu	37	9	79930243	79930243	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:79930243G>A	ENST00000360280.3	+	38	4747	c.4487G>A	c.(4486-4488)tGt>tAt	p.C1496Y	VPS13A_ENST00000376636.3_Missense_Mutation_p.C1457Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.C1496Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.C1496Y|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1496					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAGATGGTTGTGTGACTGAT	0.393																																						dbGAP											0													186.0	179.0	182.0					9																	79930243		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4487G>A	9.37:g.79930243G>A	ENSP00000353422:p.Cys1496Tyr		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.C1496Y	ENST00000360280.3	37	c.4487	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.790421	0.00623	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.46063	1.05;0.88;0.96;1.05	5.8	-1.06	0.10002	.	1.314310	0.04860	N	0.443904	T	0.22936	0.0554	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.18610	0.004;0.007;0.029;0.012	B;B;B;B	0.15484	0.003;0.013;0.005;0.005	T	0.20706	-1.0267	10	0.02654	T	1	.	10.2888	0.43584	0.0:0.5376:0.1699:0.2926	.	1457;1496;1496;1496	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Y	1496;1457;1496;1496	ENSP00000365821:C1496Y;ENSP00000365823:C1457Y;ENSP00000353422:C1496Y;ENSP00000349985:C1496Y	ENSP00000349985:C1496Y	C	+	2	0	VPS13A	79120063	0.497000	0.26067	0.007000	0.13788	0.431000	0.31685	0.926000	0.28804	0.072000	0.16694	-0.302000	0.09304	TGT	VPS13A	-	NULL	ENSG00000197969		0.393	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	223	0.00	0	G	NM_015186		79930243	79930243	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	182	22.22	52	SNP	0.000	A
VWA8	23078	genome.wustl.edu	37	13	42277474	42277474	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr13:42277474A>C	ENST00000379310.3	-	27	3258	c.3190T>G	c.(3190-3192)Ttg>Gtg	p.L1064V		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1064						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ACTGGACACAAGAGTTTTTGC	0.373																																						dbGAP											0													116.0	110.0	112.0					13																	42277474		1857	4109	5966	-	-	-	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3190T>G	13.37:g.42277474A>C	ENSP00000368612:p.Leu1064Val		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.L1064V	ENST00000379310.3	37	c.3190	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712586	0.48517	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.10288	2.89	5.55	-3.88	0.04205	.	0.000000	0.64402	D	0.000003	T	0.23014	0.0556	M	0.72479	2.2	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.10086	-1.0645	10	0.20046	T	0.44	.	15.7377	0.77859	0.2723:0.0:0.7277:0.0	.	1064	A3KMH1	K0564_HUMAN	V	968;1064	ENSP00000368612:L1064V	ENSP00000251030:L968V	L	-	1	2	KIAA0564	41175474	0.999000	0.42202	0.369000	0.25952	0.967000	0.64934	0.780000	0.26760	-0.600000	0.05790	0.533000	0.62120	TTG	VWA8	-	NULL	ENSG00000102763		0.373	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	146	0.00	0	A	NM_015058		42277474	42277474	-1	no_errors	ENST00000379310	ensembl	human	known	69_37n	missense	127	17.53	27	SNP	0.988	C
WASL	8976	genome.wustl.edu	37	7	123332759	123332759	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:123332759G>T	ENST00000223023.4	-	9	1321	c.989C>A	c.(988-990)cCa>cAa	p.P330Q		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	330	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCTACACTTGGCCTGGAAGG	0.637																																						dbGAP											0													99.0	93.0	95.0					7																	123332759		2203	4300	6503	-	-	-	SO:0001583	missense	0			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.989C>A	7.37:g.123332759G>T	ENSP00000223023:p.Pro330Gln		A1JUI9|Q7Z746	Missense_Mutation	SNP	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.P330Q	ENST00000223023.4	37	c.989	CCDS34743.1	7	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631842	0.67015	.	.	ENSG00000106299	ENST00000223023	D	0.90504	-2.68	5.39	5.39	0.77823	.	0.112999	0.64402	D	0.000009	D	0.92166	0.7516	M	0.69823	2.125	0.80722	D	1	P	0.44627	0.839	P	0.46758	0.526	D	0.91453	0.5183	10	0.38643	T	0.18	-6.4896	19.209	0.93747	0.0:0.0:1.0:0.0	.	330	O00401	WASL_HUMAN	Q	330	ENSP00000223023:P330Q	ENSP00000223023:P330Q	P	-	2	0	WASL	123119995	1.000000	0.71417	0.961000	0.40146	0.864000	0.49448	7.237000	0.78164	2.528000	0.85240	0.644000	0.83932	CCA	WASL	-	NULL	ENSG00000106299		0.637	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1	64	0.00	0	G	NM_003941		123332759	123332759	-1	no_errors	ENST00000223023	ensembl	human	known	69_37n	missense	79	18.56	18	SNP	1.000	T
WDFY4	57705	genome.wustl.edu	37	10	50025367	50025367	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:50025367C>A	ENST00000325239.5	+	31	5445	c.5418C>A	c.(5416-5418)caC>caA	p.H1806Q	WDFY4_ENST00000413659.2_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	1806						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						GCCTCGTCCACCGCACCTACC	0.657																																						dbGAP											0													39.0	48.0	45.0					10																	50025367		692	1591	2283	-	-	-	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.5418C>A	10.37:g.50025367C>A	ENSP00000320563:p.His1806Gln		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1806Q	ENST00000325239.5	37	c.5418	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.945|9.945	1.218557|1.218557	0.22373|0.22373	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000426033;ENST00000325239|ENST00000312002;ENST00000374161	T|.	0.57752|.	0.38|.	5.45|5.45	2.6|2.6	0.31112|0.31112	.|.	0.376779|.	0.19503|.	N|.	0.112684|.	T|T	0.60196|0.60196	0.2250|0.2250	M|M	0.65975|0.65975	2.015|2.015	0.47476|0.47476	D|D	0.999434|0.999434	D;D|.	0.65815|.	0.995;0.976|.	P;P|.	0.55161|.	0.77;0.559|.	T|T	0.55692|0.55692	-0.8101|-0.8101	9|5	.|.	.|.	.|.	.|.	6.2133|6.2133	0.20642|0.20642	0.0:0.572:0.0:0.428|0.0:0.572:0.0:0.428	.|.	334;1806|.	F2Z372;Q6ZS81|.	.;WDFY4_HUMAN|.	Q|T	1806|897;353	ENSP00000320563:H1806Q|.	.|.	H|P	+|+	3|1	2|0	WDFY4|WDFY4	49695373|49695373	0.995000|0.995000	0.38212|0.38212	0.625000|0.625000	0.29200|0.29200	0.085000|0.085000	0.17905|0.17905	0.849000|0.849000	0.27723|0.27723	0.685000|0.685000	0.31468|0.31468	0.655000|0.655000	0.94253|0.94253	CAC|CCG	WDFY4	-	NULL	ENSG00000128815		0.657	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		23	0.00	0	C	XM_033379		50025367	50025367	+1	no_errors	ENST00000325239	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	0.351	A
WDR33	55339	genome.wustl.edu	37	2	128466383	128466383	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:128466383A>G	ENST00000322313.4	-	21	3807	c.3649T>C	c.(3649-3651)Tcc>Ccc	p.S1217P		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1217					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGAGAAGAGGAGCGTTCTCTG	0.577																																						dbGAP											0													78.0	76.0	76.0					2																	128466383		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3649T>C	2.37:g.128466383A>G	ENSP00000325377:p.Ser1217Pro		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1217P	ENST00000322313.4	37	c.3649	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580276	0.86645	.	.	ENSG00000136709	ENST00000322313	D	0.91894	-2.93	5.56	5.56	0.83823	.	0.063956	0.64402	D	0.000005	D	0.84982	0.5593	N	0.12182	0.205	0.80722	D	1	B	0.18310	0.027	B	0.15052	0.012	T	0.80872	-0.1188	10	0.42905	T	0.14	-8.6607	15.722	0.77718	1.0:0.0:0.0:0.0	.	1217	Q9C0J8	WDR33_HUMAN	P	1217	ENSP00000325377:S1217P	ENSP00000325377:S1217P	S	-	1	0	WDR33	128182853	1.000000	0.71417	0.948000	0.38648	0.922000	0.55478	3.872000	0.56085	2.133000	0.65898	0.533000	0.62120	TCC	WDR33	-	NULL	ENSG00000136709		0.577	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	80	0.00	0	A	NM_018383		128466383	128466383	-1	no_errors	ENST00000322313	ensembl	human	known	69_37n	missense	68	26.09	24	SNP	0.995	G
WDR55	54853	genome.wustl.edu	37	5	140049102	140049102	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr5:140049102delA	ENST00000358337.5	+	7	1252	c.1015delA	c.(1015-1017)aaafs	p.K341fs	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	341					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.K341fs*8(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTCGGCGCAAAAAAAAGGG	0.592																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											43.0	45.0	45.0					5																	140049102		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.1015delA	5.37:g.140049102delA	ENSP00000351100:p.Lys341fs		Q9NXK4	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K341fs	ENST00000358337.5	37	c.1015	CCDS4235.1	5																																																																																			WDR55	-	pirsf_WD_repeat_p55	ENSG00000120314		0.592	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR55	HGNC	protein_coding	OTTHUMT00000251680.3	57	0.00	0	A	NM_017706		140049102	140049102	+1	no_errors	ENST00000358337	ensembl	human	known	69_37n	frame_shift_del	59	14.49	10	DEL	1.000	-
WDR76	79968	genome.wustl.edu	37	15	44150962	44150962	+	Silent	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr15:44150962C>T	ENST00000263795.6	+	11	1573	c.1503C>T	c.(1501-1503)gcC>gcT	p.A501A	WDR76_ENST00000381246.2_Silent_p.A437A|WDR76_ENST00000478130.1_3'UTR	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	501										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TTGCTTCCGCCTATTTTTCAC	0.393																																						dbGAP											0													170.0	164.0	166.0					15																	44150962		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1503C>T	15.37:g.44150962C>T			A0MNP5|Q05CI4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.A501	ENST00000263795.6	37	c.1503	CCDS10106.1	15																																																																																			WDR76	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000092470		0.393	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR76	HGNC	protein_coding	OTTHUMT00000133482.2	184	0.00	0	C	NM_024908		44150962	44150962	+1	no_errors	ENST00000263795	ensembl	human	known	69_37n	silent	131	11.49	17	SNP	0.947	T
WDR87	83889	genome.wustl.edu	37	19	38375769	38375769	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:38375769delA	ENST00000303868.5	-	6	8649	c.8425delT	c.(8425-8427)tgtfs	p.C2809fs	WDR87_ENST00000447313.2_Frame_Shift_Del_p.C2848fs	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2809										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						GAACTGCCACAAAACAGGCAG	0.557																																						dbGAP											0													36.0	44.0	41.0					19																	38375769		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.8425delT	19.37:g.38375769delA	ENSP00000368025:p.Cys2809fs		Q9BWV9	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C2848fs	ENST00000303868.5	37	c.8542	CCDS46063.1	19																																																																																			WDR87	-	NULL	ENSG00000171804		0.557	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	53	0.00	0	A	XM_940478		38375769	38375769	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	frame_shift_del	38	15.22	7	DEL	0.201	-
WDR87	83889	genome.wustl.edu	37	19	38382411	38382411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:38382411delC	ENST00000303868.5	-	5	3282	c.3058delG	c.(3058-3060)gccfs	p.A1020fs	WDR87_ENST00000447313.2_Frame_Shift_Del_p.A1059fs	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1020										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						AGATCTGTGGCCCGCATCCCC	0.483																																						dbGAP											0													85.0	76.0	79.0					19																	38382411		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.3058delG	19.37:g.38382411delC	ENSP00000368025:p.Ala1020fs		Q9BWV9	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1059fs	ENST00000303868.5	37	c.3175	CCDS46063.1	19																																																																																			WDR87	-	superfamily_ARM-type_fold	ENSG00000171804		0.483	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	71	0.00	0	C	XM_940478		38382411	38382411	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	frame_shift_del	71	19.10	17	DEL	0.167	-
WDR87	83889	genome.wustl.edu	37	19	38382421	38382421	+	Silent	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:38382421C>A	ENST00000303868.5	-	5	3272	c.3048G>T	c.(3046-3048)ctG>ctT	p.L1016L	WDR87_ENST00000447313.2_Silent_p.L1055L	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1016										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CCCGCATCCCCAGTAGATGGT	0.488																																						dbGAP											0													69.0	62.0	64.0					19																	38382421		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.3048G>T	19.37:g.38382421C>A			Q9BWV9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1055	ENST00000303868.5	37	c.3165	CCDS46063.1	19																																																																																			WDR87	-	superfamily_ARM-type_fold	ENSG00000171804		0.488	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	70	0.00	0	C	XM_940478		38382421	38382421	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	silent	67	21.18	18	SNP	1.000	A
WDR90	197335	genome.wustl.edu	37	16	711733	711733	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:711733G>A	ENST00000293879.4	+	31	3810	c.3810G>A	c.(3808-3810)caG>caA	p.Q1270Q	WDR90_ENST00000549091.1_Silent_p.Q1270Q			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1270										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTGTGGGCCAGGGCACTGTCA	0.662																																						dbGAP											0													39.0	46.0	44.0					16																	711733		2138	4237	6375	-	-	-	SO:0001819	synonymous_variant	0			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3810G>A	16.37:g.711733G>A			Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1270	ENST00000293879.4	37	c.3810	CCDS42092.1	16																																																																																			WDR90	-	superfamily_Quinonprotein_ADH-like,pfscan_WD40_repeat_dom	ENSG00000161996		0.662	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	16	0.00	0	G	NM_145294		711733	711733	+1	no_errors	ENST00000549091	ensembl	human	novel	69_37n	silent	21	19.23	5	SNP	0.068	A
WDTC1	23038	genome.wustl.edu	37	1	27624574	27624574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr1:27624574C>T	ENST00000319394.3	+	12	1739	c.1204C>T	c.(1204-1206)Cga>Tga	p.R402*	WDTC1_ENST00000361771.3_Nonsense_Mutation_p.R401*	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	402					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TTATGGAAACCGAGCAGCAGC	0.572																																						dbGAP											0													84.0	79.0	81.0					1																	27624574		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1204C>T	1.37:g.27624574C>T	ENSP00000317971:p.Arg402*		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R402*	ENST00000319394.3	37	c.1204		1	.	.	.	.	.	.	.	.	.	.	C	41	8.578746	0.98870	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	.	.	.	5.49	3.47	0.39725	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4762	0.61310	0.3616:0.6384:0.0:0.0	.	.	.	.	X	402;401	.	ENSP00000317971:R402X	R	+	1	2	WDTC1	27497161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.694000	0.37752	1.417000	0.47077	0.655000	0.94253	CGA	WDTC1	-	superfamily_WD40_repeat_dom,smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000142784		0.572	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		65	0.00	0	C	NM_015023		27624574	27624574	+1	no_errors	ENST00000319394	ensembl	human	known	69_37n	nonsense	52	20.00	13	SNP	1.000	T
WFDC5	149708	genome.wustl.edu	37	20	43743663	43743663	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:43743663G>A	ENST00000307971.4	-	1	140	c.62C>T	c.(61-63)gCt>gTt	p.A21V	WFDC5_ENST00000372789.4_Missense_Mutation_p.A21V			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	21						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GCCAAAGACAGCAGGCAGCTG	0.612																																					NSCLC(199;98 2227 9943 13455 41914)	dbGAP											0													60.0	67.0	65.0					20																	43743663		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY038181	CCDS33475.1	20q13.11	2013-01-21			ENSG00000175121	ENSG00000175121		"""WAP four-disulfide core domain containing"""	20477	protein-coding gene	gene with protein product		605161				12206714, 10680116	Standard	NM_145652		Approved	WAP1, dJ211D12.5	uc002xne.2	Q8TCV5	OTTHUMG00000046411	ENST00000307971.4:c.62C>T	20.37:g.43743663G>A	ENSP00000312381:p.Ala21Val		Q5H981|Q6UWE4	Missense_Mutation	SNP	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core	p.A21V	ENST00000307971.4	37	c.62		20	.	.	.	.	.	.	.	.	.	.	G	8.238	0.806141	0.16467	.	.	ENSG00000175121	ENST00000372789;ENST00000307971	T;T	0.23950	1.97;1.88	5.61	0.951	0.19579	Whey acidic protein, 4-disulphide core (1);	0.717849	0.12344	N	0.477167	T	0.18341	0.0440	L	0.51422	1.61	0.09310	N	1	P	0.34864	0.473	B	0.28553	0.091	T	0.13818	-1.0495	10	0.30854	T	0.27	-0.67	6.3722	0.21487	0.1836:0.3063:0.5101:0.0	.	21	Q8TCV5	WFDC5_HUMAN	V	21	ENSP00000361875:A21V;ENSP00000312381:A21V	ENSP00000312381:A21V	A	-	2	0	WFDC5	43177077	0.664000	0.27457	0.160000	0.22671	0.397000	0.30659	1.865000	0.39479	0.284000	0.22305	0.591000	0.81541	GCT	WFDC5	-	superfamily_Whey_acidic_protein_4-diS_core	ENSG00000175121		0.612	WFDC5-002	KNOWN	not_organism_supported|basic	protein_coding	WFDC5	HGNC	protein_coding	OTTHUMT00000107192.1	61	0.00	0	G			43743663	43743663	-1	no_errors	ENST00000307971	ensembl	human	known	69_37n	missense	67	14.10	11	SNP	0.061	A
WWC2	80014	genome.wustl.edu	37	4	184203902	184203902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr4:184203902delA	ENST00000403733.3	+	18	2925	c.2726delA	c.(2725-2727)gaafs	p.E909fs	WWC2_ENST00000513834.1_Frame_Shift_Del_p.E860fs|WWC2_ENST00000508747.1_Frame_Shift_Del_p.E37fs|WWC2_ENST00000504005.1_Frame_Shift_Del_p.E591fs|WWC2_ENST00000448232.2_Frame_Shift_Del_p.E933fs	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	909					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ATTGTGGCTGAAAAAGAGGCT	0.423																																						dbGAP											0													60.0	56.0	57.0					4																	184203902		2200	4298	6498	-	-	-	SO:0001589	frameshift_variant	0			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2726delA	4.37:g.184203902delA	ENSP00000384222:p.Glu909fs		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Frame_Shift_Del	DEL	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.E935fs	ENST00000403733.3	37	c.2798	CCDS34109.2	4																																																																																			WWC2	-	NULL	ENSG00000151718		0.423	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	77	0.00	0	A	NM_024949		184203902	184203902	+1	no_errors	ENST00000448232	ensembl	human	known	69_37n	frame_shift_del	38	20.75	11	DEL	0.092	-
XKR4	114786	genome.wustl.edu	37	8	56015697	56015697	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:56015697T>A	ENST00000327381.6	+	1	749	c.649T>A	c.(649-651)Tct>Act	p.S217T		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	217						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AAGGCAAGCATCTAACGCCAG	0.672																																						dbGAP											0													37.0	39.0	39.0					8																	56015697		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.649T>A	8.37:g.56015697T>A	ENSP00000328326:p.Ser217Thr		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.S217T	ENST00000327381.6	37	c.649	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110118	0.77210	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.83914	-1.78	5.43	5.43	0.79202	.	2.421080	0.01979	N	0.044627	D	0.86908	0.6046	L	0.55481	1.735	0.36515	D	0.869844	P	0.52170	0.951	P	0.49528	0.614	T	0.73232	-0.4048	10	0.25751	T	0.34	-27.7672	15.4857	0.75564	0.0:0.0:0.0:1.0	.	217	Q5GH76	XKR4_HUMAN	T	217	ENSP00000328326:S217T	ENSP00000328326:S217T	S	+	1	0	XKR4	56178251	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.302000	0.59092	2.063000	0.61619	0.454000	0.30748	TCT	XKR4	-	pfam_Transport_prot_XK	ENSG00000206579		0.672	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	14	0.00	0	T	NM_052898		56015697	56015697	+1	no_errors	ENST00000327381	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	0.998	A
XPA	7507	genome.wustl.edu	37	9	100437634	100437634	+	3'UTR	DEL	T	T	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:100437634delT	ENST00000375128.4	-	0	973				XPA_ENST00000485042.1_5'UTR	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A						DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				AAGATGTTGCTTTTTTTTTTG	0.264			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""xeroderma pigmentosum, complementation group A"""		E	0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.*87A>-	9.37:g.100437634delT			Q5T1U9|Q6LCW7|Q6LD02	RNA	DEL	-	NULL	ENST00000375128.4	37	NULL	CCDS6729.1	9																																																																																			XPA	-	-	ENSG00000136936		0.264	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPA	HGNC	protein_coding	OTTHUMT00000053332.1	34	0.00	0	T	NM_000380		100437634	100437634	-1	no_errors	ENST00000485042	ensembl	human	known	69_37n	rna	27	15.62	5	DEL	0.004	-
XRCC6	2547	genome.wustl.edu	37	22	42049645	42049645	+	Silent	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr22:42049645G>A	ENST00000359308.4	+	8	1897	c.1242G>A	c.(1240-1242)gtG>gtA	p.V414V	XRCC6_ENST00000360079.3_Silent_p.V414V|XRCC6_ENST00000402580.3_Silent_p.V373V|XRCC6_ENST00000405878.1_Silent_p.V414V|XRCC6_ENST00000428575.2_Silent_p.V281V|XRCC6_ENST00000405506.1_Silent_p.V364V			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	414	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TGGCTTTGGTGCCACAGGAAG	0.493								Non-homologous end-joining																														dbGAP											0													113.0	107.0	109.0					22																	42049645		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1242G>A	22.37:g.42049645G>A			B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	pirsf_DNA_helicase_ATP-dep_Ku70,pfam_Ku_N,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,pfam_SAP_DNA-bd,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd,tigrfam_DNA_helicase_ATP-dep_Ku70	p.V414	ENST00000359308.4	37	c.1242	CCDS14021.1	22																																																																																			XRCC6	-	pirsf_DNA_helicase_ATP-dep_Ku70,pfam_DNA_helicase_ATP-dep_Ku,superfamily_SPOC-like,smart_DNA_helicase_ATP-dep_Ku,tigrfam_DNA_helicase_ATP-dep_Ku70	ENSG00000196419		0.493	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC6	HGNC	protein_coding	OTTHUMT00000321688.1	137	0.72	1	G	NM_001469		42049645	42049645	+1	no_errors	ENST00000359308	ensembl	human	known	69_37n	silent	119	22.22	34	SNP	1.000	A
XYLT1	64131	genome.wustl.edu	37	16	17232213	17232213	+	Splice_Site	SNP	T	T	C	rs556515927		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr16:17232213T>C	ENST00000261381.6	-	8	1847	c.1763A>G	c.(1762-1764)cAg>cGg	p.Q588R	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	588					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAGTCTCACCTGGAAGCGGTG	0.552													T|||	1	0.000199681	0.0	0.0	5008	,	,		18428	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													64.0	60.0	61.0					16																	17232213		2197	4300	6497	-	-	-	SO:0001630	splice_region_variant	0			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1764+1A>G	16.37:g.17232213T>C			Q9H1B6	Missense_Mutation	SNP	pfam_XylT_met,pfam_Glyco_trans_14	p.Q588R	ENST00000261381.6	37	c.1763	CCDS10569.1	16	.	.	.	.	.	.	.	.	.	.	T	24.6	4.553200	0.86127	.	.	ENSG00000103489	ENST00000261381	T	0.04970	3.52	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.12944	0.0314	M	0.63428	1.95	0.80722	D	1	P	0.52316	0.952	P	0.49301	0.606	T	0.03555	-1.1025	10	0.34782	T	0.22	-37.0567	13.5044	0.61476	0.0:0.0:0.0:1.0	.	588	Q86Y38	XYLT1_HUMAN	R	588	ENSP00000261381:Q588R	ENSP00000261381:Q588R	Q	-	2	0	XYLT1	17139714	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.049000	0.71053	1.979000	0.57680	0.533000	0.62120	CAG	XYLT1	-	NULL	ENSG00000103489		0.552	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2	62	0.00	0	T	NM_022166	Missense_Mutation	17232213	17232213	-1	no_errors	ENST00000261381	ensembl	human	known	69_37n	missense	68	14.81	12	SNP	1.000	C
ZBTB4	57659	genome.wustl.edu	37	17	7369111	7369111	+	Missense_Mutation	SNP	T	T	A	rs201264238	byFrequency	TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr17:7369111T>A	ENST00000311403.4	-	3	1349	c.1010A>T	c.(1009-1011)tAc>tTc	p.Y337F	ZBTB4_ENST00000380599.4_Missense_Mutation_p.Y337F	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	337					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GCGGCAGGGGTACTTCCTCCG	0.607																																						dbGAP											0													64.0	53.0	57.0					17																	7369111		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1010A>T	17.37:g.7369111T>A	ENSP00000307858:p.Tyr337Phe		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Y337F	ENST00000311403.4	37	c.1010	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	T	32	5.109858	0.94292	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.62105	0.05;0.05	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.165833	0.40908	D	0.000986	T	0.65281	0.2676	N	0.13198	0.31	0.48901	D	0.999729	D	0.71674	0.998	D	0.75484	0.986	T	0.70521	-0.4849	10	0.56958	D	0.05	-12.2815	14.8248	0.70104	0.0:0.0:0.0:1.0	.	337	Q9P1Z0	ZBTB4_HUMAN	F	337	ENSP00000307858:Y337F;ENSP00000369973:Y337F	ENSP00000307858:Y337F	Y	-	2	0	ZBTB4	7309835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.854000	0.69503	2.142000	0.66516	0.528000	0.53228	TAC	ZBTB4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174282		0.607	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	12	0.00	0	T	NM_020899		7369111	7369111	-1	no_errors	ENST00000311403	ensembl	human	known	69_37n	missense	8	31.58	6	SNP	1.000	A
ZBTB5	9925	genome.wustl.edu	37	9	37440931	37440931	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr9:37440931G>A	ENST00000307750.4	-	2	1806	c.1618C>T	c.(1618-1620)Ccc>Tcc	p.P540S		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GGCATTTTGGGAGCTATGCGG	0.498																																						dbGAP											0													67.0	66.0	67.0					9																	37440931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1618C>T	9.37:g.37440931G>A	ENSP00000307604:p.Pro540Ser			Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P540S	ENST00000307750.4	37	c.1618	CCDS6610.1	9	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667253	0.67814	.	.	ENSG00000168795	ENST00000307750	T	0.09255	3.0	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.20210	0.0486	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.06356	-1.0831	10	0.11485	T	0.65	.	18.8456	0.92205	0.0:0.0:1.0:0.0	.	540	O15062	ZBTB5_HUMAN	S	540	ENSP00000307604:P540S	ENSP00000307604:P540S	P	-	1	0	ZBTB5	37430931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.161000	0.94739	2.785000	0.95823	0.655000	0.94253	CCC	ZBTB5	-	NULL	ENSG00000168795		0.498	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB5	HGNC	protein_coding	OTTHUMT00000052462.1	89	0.00	0	G	NM_014872		37440931	37440931	-1	no_errors	ENST00000307750	ensembl	human	known	69_37n	missense	69	29.59	29	SNP	1.000	A
ZDBF2	57683	genome.wustl.edu	37	2	207174428	207174428	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:207174428delA	ENST00000374423.3	+	5	5562	c.5176delA	c.(5176-5178)aaafs	p.K1728fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1728							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGGGCTGATAAAAAAAAACG	0.453																																						dbGAP											0													73.0	71.0	72.0					2																	207174428		1869	4105	5974	-	-	-	SO:0001589	frameshift_variant	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5176delA	2.37:g.207174428delA	ENSP00000363545:p.Lys1728fs		Q6ZNP7|Q6ZSN8	Frame_Shift_Del	DEL	pfam_Znf_DBF,smart_Znf_DBF	p.K1728fs	ENST00000374423.3	37	c.5176	CCDS46501.1	2																																																																																			ZDBF2	-	NULL	ENSG00000204186		0.453	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	76	0.00	0	A	NM_020923		207174428	207174428	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	frame_shift_del	70	12.20	10	DEL	0.000	-
ZFAND4	93550	genome.wustl.edu	37	10	46121714	46121714	+	Silent	SNP	A	A	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:46121714A>C	ENST00000344646.5	-	7	1772	c.1557T>G	c.(1555-1557)tcT>tcG	p.S519S	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Silent_p.S445S	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	519							zinc ion binding (GO:0008270)										TCCTAGAGAAAGAAGAATCAG	0.398																																						dbGAP											0													75.0	78.0	77.0					10																	46121714		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1557T>G	10.37:g.46121714A>C			A8K8V4|B2RAX2|Q5VVY5	Silent	SNP	pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,prints_Ubiquitin_subgr,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup	p.S519	ENST00000344646.5	37	c.1557	CCDS7214.1	10																																																																																			ZFAND4	-	NULL	ENSG00000172671		0.398	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	54	0.00	0	A	NM_174890		46121714	46121714	-1	no_errors	ENST00000344646	ensembl	human	known	69_37n	silent	55	16.67	11	SNP	0.463	C
ZNF208	7757	genome.wustl.edu	37	19	22155407	22155407	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:22155407C>T	ENST00000397126.4	-	4	2577	c.2429G>A	c.(2428-2430)tGt>tAt	p.C810Y	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	810					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTTTTGCCACATTCTTCACA	0.368																																						dbGAP											0													56.0	65.0	62.0					19																	22155407		2094	4243	6337	-	-	-	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2429G>A	19.37:g.22155407C>T	ENSP00000380315:p.Cys810Tyr			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.C810Y	ENST00000397126.4	37	c.2429	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393074	0.25118	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.85861	-2.04	2.57	2.57	0.30868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91375	0.7279	.	.	.	0.39554	D	0.969011	D	0.89917	1.0	D	0.91635	0.999	D	0.92008	0.5616	8	0.66056	D	0.02	.	11.9194	0.52783	0.0:1.0:0.0:0.0	.	710	O43345	ZN208_HUMAN	Y	810;710	ENSP00000380315:C810Y	ENSP00000380315:C810Y	C	-	2	0	ZNF208	21947247	0.997000	0.39634	0.276000	0.24689	0.365000	0.29674	2.900000	0.48687	1.019000	0.39547	0.280000	0.19369	TGT	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	84	0.00	0	C	NM_007153		22155407	22155407	-1	no_errors	ENST00000397126	ensembl	human	known	69_37n	missense	64	26.44	23	SNP	1.000	T
ZFP14	57677	genome.wustl.edu	37	19	36851395	36851395	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:36851395A>G	ENST00000270001.7	-	4	292	c.177T>C	c.(175-177)gaT>gaC	p.D59D	ZFP14_ENST00000589280.1_Silent_p.D60D	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCCTTTCTTCATCCAATAAGG	0.413																																						dbGAP											0													177.0	144.0	155.0					19																	36851395		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.177T>C	19.37:g.36851395A>G			A7MD23	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.D59	ENST00000270001.7	37	c.177	CCDS33002.1	19																																																																																			ZFP14	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000142065		0.413	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	229	0.00	0	A	NM_020917		36851395	36851395	-1	no_errors	ENST00000270001	ensembl	human	known	69_37n	silent	184	20.69	48	SNP	1.000	G
ZNF324B	388569	genome.wustl.edu	37	19	58967047	58967047	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:58967047C>G	ENST00000336614.4	+	4	843	c.736C>G	c.(736-738)Ctg>Gtg	p.L246V	ZNF324B_ENST00000391696.1_Missense_Mutation_p.L236V|ZNF324B_ENST00000545523.1_Missense_Mutation_p.L246V	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	246					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGGGACGAGCTGGGCGAGGC	0.637																																						dbGAP											0													25.0	22.0	23.0					19																	58967047		2202	4294	6496	-	-	-	SO:0001583	missense	0			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.736C>G	19.37:g.58967047C>G	ENSP00000337473:p.Leu246Val		B2RTZ6|Q6ZMX8|Q6ZS42	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.L246V	ENST00000336614.4	37	c.736	CCDS33138.1	19	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014518	0.35511	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.07567	3.37;3.37;3.18	2.53	2.53	0.30540	.	0.000000	0.32868	N	0.005559	T	0.05044	0.0135	L	0.29908	0.895	0.27558	N	0.950299	P;B	0.38535	0.635;0.023	B;B	0.27262	0.078;0.027	T	0.32455	-0.9906	10	0.72032	D	0.01	.	8.6795	0.34201	0.0:1.0:0.0:0.0	.	246;236	Q6AW86;C9JTQ8	Z324B_HUMAN;.	V	246;246;236	ENSP00000337473:L246V;ENSP00000438930:L246V;ENSP00000375578:L236V	ENSP00000337473:L246V	L	+	1	2	ZNF324B	63658859	.	.	0.086000	0.20670	0.236000	0.25371	.	.	1.711000	0.51337	0.491000	0.48974	CTG	ZNF324B	-	NULL	ENSG00000249471		0.637	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	HGNC	protein_coding	OTTHUMT00000467038.1	10	0.00	0	C	NM_207395		58967047	58967047	+1	no_errors	ENST00000336614	ensembl	human	known	69_37n	missense	3	57.14	4	SNP	0.560	G
ZNF334	55713	genome.wustl.edu	37	20	45130337	45130337	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:45130337A>G	ENST00000347606.4	-	5	1823	c.1641T>C	c.(1639-1641)aaT>aaC	p.N547N	ZNF334_ENST00000457685.2_Silent_p.N509N|ZNF334_ENST00000593880.1_Silent_p.N570N	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	547			N -> S (in dbSNP:rs3764690).		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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCCCACATTCATTGCATTCAT	0.448																																						dbGAP											0													176.0	167.0	170.0					20																	45130337		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1641T>C	20.37:g.45130337A>G			Q5T6U2|Q9NVW4	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.N547	ENST00000347606.4	37	c.1641	CCDS33480.1	20																																																																																			ZNF334	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198185		0.448	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF334	HGNC	protein_coding	OTTHUMT00000079575.1	88	0.00	0	A			45130337	45130337	-1	no_errors	ENST00000347606	ensembl	human	known	69_37n	silent	107	15.75	20	SNP	0.000	G
ZNF365	22891	genome.wustl.edu	37	10	64415342	64415342	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr10:64415342T>C	ENST00000395251.1	+	4	676	c.342T>C	c.(340-342)ggT>ggC	p.G114G	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron|AC067751.1_ENST00000579246.1_RNA	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	114										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGTGCTGTGGTCTCTCCGAGC	0.493																																						dbGAP											0													118.0	96.0	104.0					10																	64415342		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.342T>C	10.37:g.64415342T>C				Silent	SNP	NULL	p.G114	ENST00000395251.1	37	c.342	CCDS7265.1	10																																																																																			ZNF365	-	NULL	ENSG00000138311		0.493	ZNF365-006	KNOWN	basic|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000277036.1	68	0.00	0	T	NM_014951		64415342	64415342	+1	no_errors	ENST00000395251	ensembl	human	known	69_37n	silent	56	20.00	14	SNP	0.996	C
ZNF560	147741	genome.wustl.edu	37	19	9577932	9577932	+	Missense_Mutation	SNP	C	C	T	rs267605824		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:9577932C>T	ENST00000301480.4	-	10	1904	c.1691G>A	c.(1690-1692)cGa>cAa	p.R564Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGCGTGTGTTCGTAAATGTTT	0.408																																						dbGAP											0													112.0	104.0	107.0					19																	9577932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1691G>A	19.37:g.9577932C>T	ENSP00000301480:p.Arg564Gln		Q495S9|Q495T1	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.R564Q	ENST00000301480.4	37	c.1691	CCDS12214.1	19	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544079	0.45280	.	.	ENSG00000198028	ENST00000301480	T	0.24723	1.84	2.05	-0.242	0.13039	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35537	0.0935	L	0.50847	1.595	0.09310	N	1	D	0.89917	1.0	D	0.71656	0.974	T	0.16453	-1.0402	9	0.62326	D	0.03	.	2.735	0.05237	0.0:0.4236:0.255:0.3214	.	564	Q96MR9	ZN560_HUMAN	Q	564	ENSP00000301480:R564Q	ENSP00000301480:R564Q	R	-	2	0	ZNF560	9438932	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-3.883000	0.00343	0.006000	0.14734	0.491000	0.48974	CGA	ZNF560	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198028		0.408	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF560	HGNC	protein_coding	OTTHUMT00000449901.1	100	0.00	0	C	NM_152476		9577932	9577932	-1	no_errors	ENST00000301480	ensembl	human	known	69_37n	missense	63	28.41	25	SNP	0.006	T
ZNF568	374900	genome.wustl.edu	37	19	37440919	37440919	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:37440919T>C	ENST00000333987.7	+	7	1370	c.864T>C	c.(862-864)atT>atC	p.I288I	ZNF568_ENST00000415168.1_Silent_p.I224I|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGCTTTCATTCAGATGTCAA	0.368																																						dbGAP											0													39.0	42.0	41.0					19																	37440919		2142	4267	6409	-	-	-	SO:0001819	synonymous_variant	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.864T>C	19.37:g.37440919T>C			B4DS92|E7ER33|Q6N060|Q8NA64	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.I288	ENST00000333987.7	37	c.864	CCDS42558.1	19																																																																																			ZNF568	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198453		0.368	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	51	0.00	0	T	NM_198539		37440919	37440919	+1	no_errors	ENST00000333987	ensembl	human	known	69_37n	silent	49	14.04	8	SNP	0.747	C
ZNF572	137209	genome.wustl.edu	37	8	125989479	125989479	+	Silent	SNP	A	A	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr8:125989479A>G	ENST00000319286.5	+	3	1123	c.969A>G	c.(967-969)acA>acG	p.T323T		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	323					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAATACATACAGGAGAAAAGC	0.388										HNSCC(60;0.17)																												dbGAP											0													51.0	54.0	53.0					8																	125989479		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.969A>G	8.37:g.125989479A>G			A1L4F1|Q8N1Q0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T323	ENST00000319286.5	37	c.969	CCDS6354.1	8																																																																																			ZNF572	-	pfscan_Znf_C2H2	ENSG00000180938		0.388	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF572	HGNC	protein_coding	OTTHUMT00000381359.1	67	0.00	0	A	NM_152412		125989479	125989479	+1	no_errors	ENST00000319286	ensembl	human	known	69_37n	silent	114	12.31	16	SNP	0.998	G
ZNF599	148103	genome.wustl.edu	37	19	35249962	35249962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:35249962G>A	ENST00000329285.8	-	4	2117	c.1744C>T	c.(1744-1746)Cga>Tga	p.R582*		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	582					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(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGAATCTTTCGATGGTGAGTG	0.403																																						dbGAP											0													134.0	130.0	131.0					19																	35249962		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1744C>T	19.37:g.35249962G>A	ENSP00000333802:p.Arg582*		Q569K0|Q5PRG1	Nonsense_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.R582*	ENST00000329285.8	37	c.1744	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	G	38	7.144072	0.98092	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	.	.	.	2.25	2.25	0.28309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	8.0664	0.30663	0.0:0.0:1.0:0.0	.	.	.	.	X	581;582	.	ENSP00000333802:R582X	R	-	1	2	ZNF599	39941802	0.006000	0.16342	0.986000	0.45419	0.705000	0.40729	0.376000	0.20535	1.568000	0.49683	0.491000	0.48974	CGA	ZNF599	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000153896		0.403	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	89	0.00	0	G	XM_086046		35249962	35249962	-1	no_errors	ENST00000329285	ensembl	human	known	69_37n	nonsense	90	15.89	17	SNP	0.997	A
ZNF613	79898	genome.wustl.edu	37	19	52443493	52443493	+	Missense_Mutation	SNP	A	A	C	rs80119517		TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:52443493A>C	ENST00000293471.6	+	4	726	c.47A>C	c.(46-48)gAg>gCg	p.E16A	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GTGGCTGTGGAGTTCACTTGG	0.478																																						dbGAP											0													127.0	124.0	125.0					19																	52443493		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.47A>C	19.37:g.52443493A>C	ENSP00000293471:p.Glu16Ala		Q96SS9	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.E16A	ENST00000293471.6	37	c.47	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	A	11.60	1.686981	0.29962	.	.	ENSG00000176024	ENST00000293471	T	0.01767	4.65	3.32	1.14	0.20703	Krueppel-associated box (4);	1.174420	0.06510	N	0.737853	T	0.02418	0.0074	L	0.52823	1.66	0.58432	D	0.999999	P	0.34837	0.472	B	0.31946	0.138	T	0.44742	-0.9308	10	0.66056	D	0.02	.	4.201	0.10466	0.6772:0.2077:0.1152:0.0	.	16	Q6PF04	ZN613_HUMAN	A	16	ENSP00000293471:E16A	ENSP00000293471:E16A	E	+	2	0	ZNF613	57135305	0.002000	0.14202	0.829000	0.32907	0.783000	0.44284	0.257000	0.18369	0.065000	0.16485	-0.320000	0.08662	GAG	ZNF613	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000176024		0.478	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	153	0.00	0	A	NM_024840		52443493	52443493	+1	no_errors	ENST00000293471	ensembl	human	known	69_37n	missense	136	15.76	26	SNP	0.917	C
ZNF76	7629	genome.wustl.edu	37	6	35261543	35261543	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr6:35261543G>C	ENST00000373953.3	+	12	1611	c.1345G>C	c.(1345-1347)Gaa>Caa	p.E449Q	ZNF76_ENST00000339411.5_Intron|ZNF76_ENST00000440666.2_Missense_Mutation_p.E423Q	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	449					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCTGTCCCCGGAAGACCTGCA	0.607																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	dbGAP											0													74.0	73.0	73.0					6																	35261543		2203	4300	6503	-	-	-	SO:0001583	missense	0			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1345G>C	6.37:g.35261543G>C	ENSP00000363064:p.Glu449Gln		Q9BQB2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E449Q	ENST00000373953.3	37	c.1345	CCDS4801.1	6	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364742	0.61513	.	.	ENSG00000065029	ENST00000373953;ENST00000440666	T;T	0.09073	3.02;3.02	5.26	5.26	0.73747	.	0.000000	0.46145	D	0.000305	T	0.06280	0.0162	N	0.19112	0.55	0.48087	D	0.999587	D	0.58268	0.982	P	0.52554	0.702	T	0.43686	-0.9376	10	0.39692	T	0.17	.	16.1975	0.82042	0.0:0.0:1.0:0.0	.	449	P36508	ZNF76_HUMAN	Q	449;423	ENSP00000363064:E449Q;ENSP00000392243:E423Q	ENSP00000363064:E449Q	E	+	1	0	ZNF76	35369521	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.029000	0.76477	2.731000	0.93534	0.650000	0.86243	GAA	ZNF76	-	NULL	ENSG00000065029		0.607	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	HGNC	protein_coding	OTTHUMT00000040279.2	63	0.00	0	G	NM_003427		35261543	35261543	+1	no_errors	ENST00000373953	ensembl	human	known	69_37n	missense	83	17.00	17	SNP	1.000	C
ZNF846	162993	genome.wustl.edu	37	19	9868615	9868615	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:9868615C>G	ENST00000397902.2	-	6	1551	c.1138G>C	c.(1138-1140)Gga>Cga	p.G380R	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AAAACAAGTCCTGAGGAACGA	0.368																																						dbGAP											0													60.0	67.0	65.0					19																	9868615		2167	4285	6452	-	-	-	SO:0001583	missense	0			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1138G>C	19.37:g.9868615C>G	ENSP00000380999:p.Gly380Arg		A8K0H1|B3KUP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G380R	ENST00000397902.2	37	c.1138	CCDS42496.1	19	.	.	.	.	.	.	.	.	.	.	.	14.18	2.458597	0.43634	.	.	ENSG00000196605	ENST00000397902	T	0.07114	3.22	2.01	-2.18	0.07037	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.11870	0.19	0.09310	N	1	P	0.47191	0.891	P	0.45610	0.487	T	0.36962	-0.9726	8	.	.	.	.	5.0524	0.14514	0.3734:0.2562:0.3704:0.0	.	380	Q147U1	ZN846_HUMAN	R	380	ENSP00000380999:G380R	.	G	-	1	0	ZNF846	9729615	0.000000	0.05858	0.001000	0.08648	0.840000	0.47671	-5.539000	0.00115	-0.386000	0.07821	0.456000	0.33151	GGA	ZNF846	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196605		0.368	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF846	HGNC	protein_coding	OTTHUMT00000450253.1	76	0.00	0	C	NM_001077624		9868615	9868615	-1	no_errors	ENST00000397902	ensembl	human	known	69_37n	missense	63	24.10	20	SNP	0.001	G
ZNF793	390927	genome.wustl.edu	37	19	38027832	38027832	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:38027832G>C	ENST00000587143.1	+	6	507	c.272G>C	c.(271-273)aGa>aCa	p.R91T	ZNF793_ENST00000542455.1_Missense_Mutation_p.R91T|ZNF793_ENST00000589319.1_Missense_Mutation_p.R91T|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000445217.1_Missense_Mutation_p.R91T			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAGGAAAAGACGGCAAGAC	0.383																																					Melanoma(44;400 1431 1499 19093)	dbGAP											0													40.0	43.0	42.0					19																	38027832		1870	4097	5967	-	-	-	SO:0001583	missense	0			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.272G>C	19.37:g.38027832G>C	ENSP00000468605:p.Arg91Thr		E9PGN4|Q7Z3Q9	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.R91T	ENST00000587143.1	37	c.272	CCDS46062.1	19	.	.	.	.	.	.	.	.	.	.	G	8.533	0.871546	0.17322	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.06608	3.28;3.28	4.15	3.12	0.35913	.	0.000000	0.42821	D	0.000653	T	0.03651	0.0104	N	0.14661	0.345	0.21740	N	0.999569	P;P	0.43477	0.808;0.808	B;B	0.39590	0.283;0.304	T	0.43048	-0.9415	10	0.30854	T	0.27	.	7.7519	0.28903	0.1157:0.0:0.8843:0.0	.	91;91	Q6ZN11;E9PGN4	ZN793_HUMAN;.	T	91;91;91;90	ENSP00000444355:R91T;ENSP00000396402:R91T	ENSP00000318811:R90T	R	+	2	0	ZNF793	42719672	0.001000	0.12720	0.822000	0.32727	0.931000	0.56810	0.557000	0.23454	1.083000	0.41159	0.655000	0.94253	AGA	ZNF793	-	NULL	ENSG00000188227		0.383	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF793	HGNC	protein_coding	OTTHUMT00000458621.1	36	0.00	0	G	NM_001013659		38027832	38027832	+1	no_errors	ENST00000445217	ensembl	human	known	69_37n	missense	36	40.98	25	SNP	0.678	C
ZNF780A	284323	genome.wustl.edu	37	19	40580829	40580829	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr19:40580829C>A	ENST00000595687.2	-	6	1729	c.1520G>T	c.(1519-1521)gGg>gTg	p.G507V	ZNF780A_ENST00000455521.1_Missense_Mutation_p.G508V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.G507V|ZNF780A_ENST00000450241.2_Missense_Mutation_p.G473V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.G508V	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAAGCCTTCCCACACTCCTT	0.428																																						dbGAP											0													84.0	85.0	84.0					19																	40580829		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1520G>T	19.37:g.40580829C>A	ENSP00000472189:p.Gly507Val		E9PB48|Q6ZN87	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.G508V	ENST00000595687.2	37	c.1523	CCDS33026.2	19	.	.	.	.	.	.	.	.	.	.	c	16.94	3.260854	0.59431	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T;T	0.14266	2.52;3.19;3.19	1.93	1.93	0.25924	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42200	0.1192	H	0.95114	3.625	0.52501	D	0.999956	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.95	T	0.37291	-0.9712	9	0.87932	D	0	.	4.4424	0.11580	0.0:0.7942:0.0:0.2058	.	508;507	E9PB48;O75290	.;Z780A_HUMAN	V	507;508;507	ENSP00000387705:G507V;ENSP00000400997:G508V;ENSP00000341507:G507V	ENSP00000341507:G507V	G	-	2	0	ZNF780A	45272669	0.989000	0.36119	0.787000	0.31911	0.600000	0.36913	1.040000	0.30278	1.046000	0.40249	0.313000	0.20887	GGG	ZNF780A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197782		0.428	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	103	0.00	0	C	NM_001010880		40580829	40580829	-1	no_errors	ENST00000455521	ensembl	human	known	69_37n	missense	61	32.97	30	SNP	1.000	A
ZNF862	643641	genome.wustl.edu	37	7	149559204	149559204	+	Silent	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr7:149559204T>C	ENST00000223210.4	+	7	3200	c.2955T>C	c.(2953-2955)agT>agC	p.S985S	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	985					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CAGGATACAGTGAGGAAGCTC	0.567																																						dbGAP											0													68.0	74.0	72.0					7																	149559204		2009	4190	6199	-	-	-	SO:0001819	synonymous_variant	0			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2955T>C	7.37:g.149559204T>C			A0AUL8	Silent	SNP	pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box	p.S985	ENST00000223210.4	37	c.2955	CCDS47741.1	7																																																																																			ZNF862	-	NULL	ENSG00000106479		0.567	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF862	HGNC	protein_coding	OTTHUMT00000350165.1	26	0.00	0	T	NM_001099220		149559204	149559204	+1	no_errors	ENST00000223210	ensembl	human	known	69_37n	silent	21	16.00	4	SNP	0.741	C
ZRANB3	84083	genome.wustl.edu	37	2	135985408	135985410	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr2:135985408_135985410delTCT	ENST00000264159.6	-	14	2246_2248	c.2130_2132delAGA	c.(2128-2133)gaagac>gac	p.E710del	ZRANB3_ENST00000401392.1_In_Frame_Del_p.E710del|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_In_Frame_Del_p.E710del	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	710					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.D176Y(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGTAAGTCCGTCTTCTTTCTCAA	0.399																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001651	inframe_deletion	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2130_2132delAGA	2.37:g.135985411_135985413delTCT	ENSP00000264159:p.Glu710del		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	In_Frame_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E710in_frame_del	ENST00000264159.6	37	c.2132_2130	CCDS46419.1	2																																																																																			ZRANB3	-	NULL	ENSG00000121988		0.399	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	200	0.00	0	TCT	NM_032143		135985408	135985410	-1	no_errors	ENST00000264159	ensembl	human	known	69_37n	in_frame_del	179	17.81	39	DEL	0.006:0.009:0.008	-
ZSWIM3	140831	genome.wustl.edu	37	20	44506372	44506372	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XQ-01A-11D-A14K-09	TCGA-D8-A1XQ-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6907fb6b-34d8-4376-961b-f073f0b5f700	241a754b-92a3-4a10-a8ad-ee7e2e29ad19	g.chr20:44506372T>C	ENST00000255152.2	+	2	1384	c.1175T>C	c.(1174-1176)aTg>aCg	p.M392T	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.M386T	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	392							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AACACCTACATGGACAGCCTA	0.517																																						dbGAP											0													99.0	77.0	84.0					20																	44506372		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1175T>C	20.37:g.44506372T>C	ENSP00000255152:p.Met392Thr		Q9BR13	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.M392T	ENST00000255152.2	37	c.1175	CCDS13381.1	20	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892972	0.52121	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.23147	1.95;1.92	5.22	5.22	0.72569	.	0.342232	0.33144	N	0.005229	T	0.28034	0.0691	L	0.32530	0.975	0.41312	D	0.987115	D;P	0.57257	0.979;0.948	P;P	0.52554	0.702;0.614	T	0.02539	-1.1144	10	0.10902	T	0.67	-31.0785	14.9427	0.71006	0.0:0.0:0.0:1.0	.	386;392	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	T	392;386	ENSP00000255152:M392T;ENSP00000406313:M386T	ENSP00000255152:M392T	M	+	2	0	ZSWIM3	43939779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.931000	0.63469	2.201000	0.70794	0.533000	0.62120	ATG	ZSWIM3	-	NULL	ENSG00000132801		0.517	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1	38	0.00	0	T	NM_080752		44506372	44506372	+1	no_errors	ENST00000255152	ensembl	human	known	69_37n	missense	49	19.67	12	SNP	1.000	C
