#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
ALPK3	57538	genome.wustl.edu	37	15	85382261	85382262	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr15:85382261_85382262insA	ENST00000258888.5	+	4	1128_1129	c.961_962insA	c.(961-963)cgcfs	p.R321fs		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	321	Ig-like 1.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R321H(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGCTGGACCGCTACTGTGGC	0.53																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	Exception_encountered	15.37:g.85382261_85382262insA	ENSP00000258888:p.Arg321fs		Q9P2L6	Frame_Shift_Ins	INS	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.R321fs	ENST00000258888.5	37	c.961_962	CCDS10333.1	15																																																																																			ALPK3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000136383		0.530	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	13	0.00	0	-	NM_020778		85382261	85382262	+1	no_errors	ENST00000258888	ensembl	human	known	69_37n	frame_shift_ins	12	57.14	16	INS	1.000:1.000	A
ARFGEF1	10565	genome.wustl.edu	37	8	68179153	68179153	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr8:68179153T>C	ENST00000262215.3	-	13	2268	c.1879A>G	c.(1879-1881)Agt>Ggt	p.S627G	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S81G	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	627					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)			TGATCCTTACTCCATTCAACC	0.328																																						dbGAP											0													103.0	96.0	99.0					8																	68179153		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.1879A>G	8.37:g.68179153T>C	ENSP00000262215:p.Ser627Gly		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.S627G	ENST00000262215.3	37	c.1879	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170900	0.78452	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.65364	2.78;-0.15	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80793	0.4691	M	0.83118	2.625	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.953	D	0.83879	0.0278	10	0.72032	D	0.01	.	15.6012	0.76626	0.0:0.0:0.0:1.0	.	627;81	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	G	81;627	ENSP00000428429:S81G;ENSP00000262215:S627G	ENSP00000262215:S627G	S	-	1	0	ARFGEF1	68341707	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.082000	0.62665	0.528000	0.53228	AGT	ARFGEF1	-	superfamily_ARM-type_fold	ENSG00000066777		0.328	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	90	0.00	0	T	NM_006421		68179153	68179153	-1	no_errors	ENST00000262215	ensembl	human	known	69_37n	missense	104	36.97	61	SNP	1.000	C
ARHGEF15	22899	genome.wustl.edu	37	17	8224297	8224298	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr17:8224297_8224298insC	ENST00000361926.3	+	16	2622_2623	c.2512_2513insC	c.(2512-2514)gccfs	p.A838fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.A838fs|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	838					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCCCAATGCCCCCCCACCC	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2519dupC	17.37:g.8224304_8224304dupC	ENSP00000355026:p.Ala838fs		A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.P841fs	ENST00000361926.3	37	c.2512_2513	CCDS11139.1	17																																																																																			ARHGEF15	-	NULL	ENSG00000198844		0.574	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	17	0.00	0	-	NM_173728		8224297	8224298	+1	no_errors	ENST00000361926	ensembl	human	known	69_37n	frame_shift_ins	34	10.53	4	INS	0.000:0.001	C
ARHGEF5	7984	genome.wustl.edu	37	7	144061486	144061486	+	Missense_Mutation	SNP	C	C	A	rs201540510		TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr7:144061486C>A	ENST00000056217.5	+	2	1898	c.1724C>A	c.(1723-1725)cCg>cAg	p.P575Q	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	575				P -> Q (in Ref. 2; BAD18708). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GAGATGTGCCCGGCTGCCCTC	0.627																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1724C>A	7.37:g.144061486C>A	ENSP00000056217:p.Pro575Gln		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.P575Q	ENST00000056217.5	37	c.1724	CCDS34771.1	7	79	0.036172161172161175	6	0.012195121951219513	14	0.03867403314917127	2	0.0034965034965034965	57	0.07519788918205805	C	13.73	2.324498	0.41197	.	.	ENSG00000050327	ENST00000056217	D	0.88354	-2.37	3.79	-3.62	0.04543	.	2.451200	0.01977	N	0.044504	T	0.29945	0.0749	L	0.50333	1.59	0.80722	P	0.0	B	0.22414	0.069	B	0.17979	0.02	T	0.59423	-0.7457	8	.	.	.	0.0981	10.009	0.41975	0.0:0.229:0.0:0.771	.	575	Q12774	ARHG5_HUMAN	Q	575	ENSP00000056217:P575Q	.	P	+	2	0	ARHGEF5	143692419	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.626000	0.05527	-0.692000	0.05128	0.555000	0.69702	CCG	ARHGEF5	-	NULL	ENSG00000050327		0.627	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	35	0.00	0	C	NM_005435		144061486	144061486	+1	no_errors	ENST00000056217	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	0.000	A
BCL9	607	genome.wustl.edu	37	1	147092581	147092581	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr1:147092581C>G	ENST00000234739.3	+	8	3360	c.2620C>G	c.(2620-2622)Cca>Gca	p.P874A		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	874	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGTCCAGTCACCAATGCTGGG	0.617			T	"""IGH@, IGL@"""	B-ALL																																	dbGAP		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													67.0	67.0	67.0					1																	147092581		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2620C>G	1.37:g.147092581C>G	ENSP00000234739:p.Pro874Ala		Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P874A	ENST00000234739.3	37	c.2620	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903919	0.72754	.	.	ENSG00000116128	ENST00000234739	D	0.84516	-1.86	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.87771	0.6261	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.88903	0.3354	10	0.87932	D	0	-8.563	18.9769	0.92740	0.0:1.0:0.0:0.0	.	874;874	Q1JQ81;O00512	.;BCL9_HUMAN	A	874	ENSP00000234739:P874A	ENSP00000234739:P874A	P	+	1	0	BCL9	145559205	1.000000	0.71417	0.762000	0.31397	0.995000	0.86356	7.651000	0.83577	2.714000	0.92807	0.561000	0.74099	CCA	BCL9	-	NULL	ENSG00000116128		0.617	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	106	0.00	0	C	NM_004326		147092581	147092581	+1	no_errors	ENST00000234739	ensembl	human	known	69_37n	missense	195	12.16	27	SNP	1.000	G
BRI3BP	140707	genome.wustl.edu	37	12	125509844	125509845	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr12:125509844_125509845insG	ENST00000341446.8	+	3	715_716	c.624_625insG	c.(625-627)cccfs	p.P209fs		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		GGCGAAGCAGTCCCAGCGGccc	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	Exception_encountered	12.37:g.125509844_125509845insG	ENSP00000340761:p.Pro209fs			Frame_Shift_Ins	INS	NULL	p.P208fs	ENST00000341446.8	37	c.624_625	CCDS9262.1	12																																																																																			BRI3BP	-	NULL	ENSG00000184992		0.639	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3BP	HGNC	protein_coding	OTTHUMT00000400200.2	17	0.00	0	-	NM_080626		125509844	125509845	+1	no_errors	ENST00000341446	ensembl	human	known	69_37n	frame_shift_ins	12	29.41	5	INS	0.982:0.979	G
CEP350	9857	genome.wustl.edu	37	1	180062453	180062453	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr1:180062453C>T	ENST00000367607.3	+	34	7631	c.7213C>T	c.(7213-7215)Ctc>Ttc	p.L2405F	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2405					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTTGCTGTCACTCAGGAAAGA	0.408																																						dbGAP											0													32.0	31.0	31.0					1																	180062453		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7213C>T	1.37:g.180062453C>T	ENSP00000356579:p.Leu2405Phe		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.L2405F	ENST00000367607.3	37	c.7213	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.63|13.63	2.294546|2.294546	0.40594|0.40594	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000429851	T|.	0.58506|.	0.33|.	5.69|5.69	3.8|3.8	0.43715|0.43715	.|.	0.569490|.	0.13870|.	N|.	0.357088|.	T|T	0.44074|0.44074	0.1276|0.1276	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	D;D|.	0.61080|.	0.989;0.989|.	P;P|.	0.55087|.	0.768;0.768|.	T|T	0.32719|0.32719	-0.9896|-0.9896	9|5	.|.	.|.	.|.	.|.	6.7229|6.7229	0.23340|0.23340	0.0:0.6572:0.1298:0.213|0.0:0.6572:0.1298:0.213	.|.	2405;2405|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	F|I	2405|579	ENSP00000356579:L2405F|.	.|.	L|T	+|+	1|2	0|0	CEP350|CEP350	178329076|178329076	0.001000|0.001000	0.12720|0.12720	0.865000|0.865000	0.33974|0.33974	0.993000|0.993000	0.82548|0.82548	0.669000|0.669000	0.25142|0.25142	1.395000|1.395000	0.46643|0.46643	0.650000|0.650000	0.86243|0.86243	CTC|ACT	CEP350	-	NULL	ENSG00000135837		0.408	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	32	0.00	0	C	NM_014810		180062453	180062453	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	0.019	T
CHSY3	337876	genome.wustl.edu	37	5	129243904	129243904	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr5:129243904C>G	ENST00000305031.4	+	2	1295	c.937C>G	c.(937-939)Cct>Gct	p.P313A	CTC-575N7.1_ENST00000515569.1_RNA|CHSY3_ENST00000507545.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	313					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TATGGGAGGACCTGGCATGAT	0.507																																						dbGAP											0													125.0	111.0	116.0					5																	129243904		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.937C>G	5.37:g.129243904C>G	ENSP00000302629:p.Pro313Ala		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.P313A	ENST00000305031.4	37	c.937	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325483	0.81580	.	.	ENSG00000198108	ENST00000305031	D	0.83335	-1.71	4.19	4.19	0.49359	.	0.000000	0.37136	N	0.002237	D	0.86518	0.5952	L	0.37507	1.11	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.85227	0.1030	9	.	.	.	.	17.8243	0.88660	0.0:1.0:0.0:0.0	.	313	Q70JA7	CHSS3_HUMAN	A	313	ENSP00000302629:P313A	.	P	+	1	0	CHSY3	129271803	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.610000	0.88304	0.591000	0.81541	CCT	CHSY3	-	pfam_Fringe-like	ENSG00000198108		0.507	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	53	0.00	0	C	NM_175856		129243904	129243904	+1	no_errors	ENST00000305031	ensembl	human	known	69_37n	missense	24	33.33	12	SNP	1.000	G
COL11A2	1302	genome.wustl.edu	37	6	33152074	33152075	+	Frame_Shift_Ins	INS	-	-	G	rs147527758		TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr6:33152074_33152075insG	ENST00000341947.2	-	8	1193_1194	c.966_967insC	c.(964-969)cccacafs	p.T323fs	COL11A2_ENST00000357486.1_Frame_Shift_Ins_p.T302fs|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000374713.1_Frame_Shift_Ins_p.T276fs|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000374714.1_Frame_Shift_Ins_p.T297fs	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	323	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTCGGCTGTGGGGGGGACCT	0.604																																					Melanoma(1;90 116 3946 5341 17093)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.967dupC	6.37:g.33152081_33152081dupG	ENSP00000339915:p.Thr323fs		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Frame_Shift_Ins	INS	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.T322fs	ENST00000341947.2	37	c.967_966		6																																																																																			COL11A2	-	NULL	ENSG00000204248		0.604	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	COL11A2	HGNC	protein_coding		14	0.00	0	-			33152074	33152075	-1	no_errors	ENST00000341947	ensembl	human	known	69_37n	frame_shift_ins	16	15.79	3	INS	0.999:0.989	G
CXorf22	170063	genome.wustl.edu	37	X	35993847	35993847	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chrX:35993847G>A	ENST00000297866.5	+	15	2596	c.2530G>A	c.(2530-2532)Gtc>Atc	p.V844I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	844										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GGTGGCAGTTGTCCAGCCAGT	0.408																																						dbGAP											0													113.0	98.0	103.0					X																	35993847		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2530G>A	X.37:g.35993847G>A	ENSP00000297866:p.Val844Ile		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.V844I	ENST00000297866.5	37	c.2530	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	G	3.356	-0.131535	0.06753	.	.	ENSG00000165164	ENST00000297866	T	0.19669	2.13	5.14	3.1	0.35709	.	0.317762	0.30093	N	0.010427	T	0.13841	0.0335	L	0.43554	1.36	0.09310	N	1	P	0.38223	0.623	B	0.32289	0.143	T	0.19877	-1.0292	10	0.14252	T	0.57	-4.3128	9.3949	0.38397	0.1396:0.0:0.8604:0.0	.	844	Q6ZTR5	CX022_HUMAN	I	844	ENSP00000297866:V844I	ENSP00000297866:V844I	V	+	1	0	CXorf22	35903768	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	0.428000	0.21395	0.266000	0.21894	0.600000	0.82982	GTC	CXorf22	-	NULL	ENSG00000165164		0.408	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	183	0.00	0	G	NM_152632		35993847	35993847	+1	no_errors	ENST00000297866	ensembl	human	known	69_37n	missense	224	18.25	50	SNP	0.004	A
DACT3	147906	genome.wustl.edu	37	19	47151768	47151768	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr19:47151768C>A	ENST00000391916.2	-	4	1934	c.1861G>T	c.(1861-1863)Ggt>Tgt	p.G621C	DACT3_ENST00000300875.4_Missense_Mutation_p.G396C	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	621					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		TTGAGAGAACCCGAACGGAAA	0.572																																						dbGAP											0													248.0	253.0	251.0					19																	47151768		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12688.2, CCDS74402.1	19q13.32	2013-05-15	2013-05-15	2006-09-25	ENSG00000197380	ENSG00000197380			30745	protein-coding gene	gene with protein product		611112	"""arginine rich region 1"", ""dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis)"""	RRR1		16881060	Standard	NM_145056		Approved	MGC15476, DAPPER3	uc010ekq.3	Q96B18	OTTHUMG00000153070	ENST00000391916.2:c.1861G>T	19.37:g.47151768C>A	ENSP00000375783:p.Gly621Cys			Missense_Mutation	SNP	NULL	p.G621C	ENST00000391916.2	37	c.1861	CCDS12688.2	19	.	.	.	.	.	.	.	.	.	.	c	19.47	3.833045	0.71258	.	.	ENSG00000197380	ENST00000391916;ENST00000300875	T;T	0.57595	0.39;0.39	3.23	3.23	0.37069	.	0.000000	0.36854	U	0.002377	T	0.67277	0.2876	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71431	-0.4595	10	0.87932	D	0	-5.8809	12.2731	0.54719	0.0:1.0:0.0:0.0	.	621	Q96B18	DACT3_HUMAN	C	621;396	ENSP00000375783:G621C;ENSP00000300875:G396C	ENSP00000300875:G396C	G	-	1	0	DACT3	51843608	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	6.994000	0.76251	1.778000	0.52293	0.289000	0.19496	GGT	DACT3	-	NULL	ENSG00000197380		0.572	DACT3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	DACT3	HGNC	protein_coding	OTTHUMT00000334090.1	199	0.50	1	C	NM_145056		47151768	47151768	-1	no_errors	ENST00000391916	ensembl	human	known	69_37n	missense	250	19.61	61	SNP	0.999	A
DCHS1	8642	genome.wustl.edu	37	11	6646655	6646655	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr11:6646655G>A	ENST00000299441.3	-	19	7331	c.6920C>T	c.(6919-6921)cCc>cTc	p.P2307L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2307	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAGCACGGGTCCTGAGTC	0.562																																						dbGAP											0													140.0	121.0	128.0					11																	6646655		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6920C>T	11.37:g.6646655G>A	ENSP00000299441:p.Pro2307Leu		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P2307L	ENST00000299441.3	37	c.6920	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000624	0.74818	.	.	ENSG00000166341	ENST00000299441	T	0.54071	0.59	4.93	4.93	0.64822	Cadherin (4);Cadherin-like (1);	0.000000	0.42548	D	0.000699	T	0.63721	0.2535	M	0.66939	2.045	0.80722	D	1	D	0.52996	0.957	P	0.52823	0.71	T	0.65450	-0.6165	10	0.46703	T	0.11	.	16.9038	0.86120	0.0:0.0:1.0:0.0	.	2307	Q96JQ0	PCD16_HUMAN	L	2307	ENSP00000299441:P2307L	ENSP00000299441:P2307L	P	-	2	0	DCHS1	6603231	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	9.147000	0.94646	2.561000	0.86390	0.655000	0.94253	CCC	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.562	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	56	0.00	0	G	NM_003737		6646655	6646655	-1	no_errors	ENST00000299441	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	0.998	A
DCHS2	54798	genome.wustl.edu	37	4	155219117	155219117	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr4:155219117T>A	ENST00000357232.4	-	18	4983	c.4984A>T	c.(4984-4986)Att>Ttt	p.I1662F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1662	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGGCTGGAATGCCCTGGTCT	0.428																																						dbGAP											0													75.0	75.0	75.0					4																	155219117		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4984A>T	4.37:g.155219117T>A	ENSP00000349768:p.Ile1662Phe		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I1662F	ENST00000357232.4	37	c.4984	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	T	6.174	0.400359	0.11696	.	.	ENSG00000197410	ENST00000357232	T	0.61158	0.13	5.82	-3.38	0.04883	Cadherin (3);Cadherin-like (1);	1.379080	0.04544	N	0.388666	T	0.44456	0.1294	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17410	-1.0370	10	0.31617	T	0.26	.	4.569	0.12200	0.0953:0.3137:0.0946:0.4964	.	1662	Q6V1P9	PCD23_HUMAN	F	1662	ENSP00000349768:I1662F	ENSP00000349768:I1662F	I	-	1	0	DCHS2	155438567	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-1.078000	0.03413	-0.649000	0.05430	-0.766000	0.03442	ATT	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	106	0.93	1	T	NM_001142552		155219117	155219117	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	missense	27	74.53	79	SNP	0.000	A
DKK3	27122	genome.wustl.edu	37	11	11986224	11986225	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr11:11986224_11986225insA	ENST00000396505.2	-	8	1077_1078	c.839_840insT	c.(838-840)ctgfs	p.L280fs	DKK3_ENST00000326932.4_Frame_Shift_Ins_p.L280fs|DKK3_ENST00000450094.2_Frame_Shift_Ins_p.L252fs|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000525493.1_Frame_Shift_Ins_p.L294fs	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	280	DKK-type Cys-2.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		ACACATACACCAGGCTGTGGCT	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.840dupT	11.37:g.11986225_11986225dupA	ENSP00000379762:p.Leu280fs		A8K1I2|D3DQW1|Q9ULB7	Frame_Shift_Ins	INS	pfam_Dickkopf_N	p.V281fs	ENST00000396505.2	37	c.840_839	CCDS7808.1	11																																																																																			DKK3	-	NULL	ENSG00000050165		0.614	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DKK3	HGNC	protein_coding	OTTHUMT00000385863.1	29	0.00	0	-	NM_013253		11986224	11986225	-1	no_errors	ENST00000326932	ensembl	human	known	69_37n	frame_shift_ins	21	40.00	14	INS	0.998:1.000	A
DSCAM	1826	genome.wustl.edu	37	21	42080507	42080507	+	Silent	SNP	G	G	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr21:42080507G>A	ENST00000400454.1	-	2	711	c.234C>T	c.(232-234)aaC>aaT	p.N78N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	78	Ig-like C2-type 1.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGAGTGCCGTTGGGGTGGA	0.522																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													98.0	100.0	99.0					21																	42080507		1947	4144	6091	-	-	-	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.234C>T	21.37:g.42080507G>A			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.N78	ENST00000400454.1	37	c.234	CCDS42929.1	21																																																																																			DSCAM	-	smart_Ig_sub2	ENSG00000171587		0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	108	0.00	0	G	NM_001389		42080507	42080507	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	silent	107	24.48	35	SNP	1.000	A
DUS3L	56931	genome.wustl.edu	37	19	5789306	5789307	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr19:5789306_5789307insC	ENST00000309061.7	-	3	907_908	c.811_812insG	c.(811-813)actfs	p.T271fs	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	271							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						AGGGGTGCTAGTGCCCGGCCCT	0.723																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.811_812insG	19.37:g.5789306_5789307insC	ENSP00000311977:p.Thr271fs		Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Frame_Shift_Ins	INS	pfam_tRNA_hU_synthase	p.T271fs	ENST00000309061.7	37	c.812_811	CCDS32880.1	19																																																																																			DUS3L	-	NULL	ENSG00000141994		0.723	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	HGNC	protein_coding	OTTHUMT00000451870.2	8	0.00	0	-	NM_020175		5789306	5789307	-1	no_errors	ENST00000309061	ensembl	human	known	69_37n	frame_shift_ins	9	35.71	5	INS	0.000:0.000	C
EPHB6	2051	genome.wustl.edu	37	7	142568064	142568064	+	Missense_Mutation	SNP	G	G	A	rs529859076		TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr7:142568064G>A	ENST00000392957.2	+	18	3492	c.2705G>A	c.(2704-2706)cGt>cAt	p.R902H	EPHB6_ENST00000442129.1_Missense_Mutation_p.R902H|EPHB6_ENST00000411471.2_Missense_Mutation_p.R625H|EPHB6_ENST00000476059.1_3'UTR	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	902	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)					CAGAAGGACCGTGCCCGGCGG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		16693	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													99.0	115.0	109.0					7																	142568064		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.2705G>A	7.37:g.142568064G>A	ENSP00000376684:p.Arg902His		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.R902H	ENST00000392957.2	37	c.2705	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334185	0.60853	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.62364	0.03;0.03;0.03	5.58	3.66	0.41972	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.297000	0.24774	N	0.035719	T	0.52677	0.1749	L	0.39514	1.22	0.54753	D	0.999986	B;B	0.16802	0.019;0.015	B;B	0.10450	0.005;0.003	T	0.55211	-0.8176	10	0.87932	D	0	.	12.0467	0.53483	0.0745:0.1326:0.7929:0.0	.	902;625	O15197;O15197-2	EPHB6_HUMAN;.	H	902;902;625	ENSP00000376684:R902H;ENSP00000410789:R902H;ENSP00000409061:R625H	ENSP00000376684:R902H	R	+	2	0	EPHB6	142278186	0.970000	0.33590	1.000000	0.80357	0.997000	0.91878	5.499000	0.66937	1.345000	0.45676	0.655000	0.94253	CGT	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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000106123		0.577	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	111	0.00	0	G			142568064	142568064	+1	no_errors	ENST00000392957	ensembl	human	known	69_37n	missense	112	22.76	33	SNP	0.999	A
FCAR	2204	genome.wustl.edu	37	19	55399582	55399582	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr19:55399582delC	ENST00000355524.3	+	4	580	c.570delC	c.(568-570)atcfs	p.I190fs	FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Intron|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000353758.4_Frame_Shift_Del_p.I81fs|FCAR_ENST00000469767.1_Frame_Shift_Del_p.I190fs|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391724.3_Frame_Shift_Del_p.I178fs|FCAR_ENST00000391725.3_Frame_Shift_Del_p.I190fs|FCAR_ENST00000391723.3_Frame_Shift_Del_p.I178fs|FCAR_ENST00000359272.4_Frame_Shift_Del_p.I178fs	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	190	Ig-like C2-type 2.				immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCTCAGGGATCTACAGGTGCT	0.572																																						dbGAP											0													77.0	67.0	70.0					19																	55399582		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.570delC	19.37:g.55399582delC	ENSP00000347714:p.Ile190fs		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Frame_Shift_Del	DEL	smart_Ig_sub	p.Y191fs	ENST00000355524.3	37	c.570	CCDS12907.1	19																																																																																			FCAR	-	smart_Ig_sub	ENSG00000186431		0.572	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCAR	HGNC	protein_coding	OTTHUMT00000141243.1	24	0.00	0	C	NM_002000		55399582	55399582	+1	no_errors	ENST00000355524	ensembl	human	known	69_37n	frame_shift_del	47	44.83	39	DEL	0.012	-
IKBKAP	8518	genome.wustl.edu	37	9	111668755	111668755	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr9:111668755C>T	ENST00000374647.5	-	14	1778	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	IKBKAP_ENST00000537196.1_Missense_Mutation_p.E142K	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	491					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCATTATTCTCAAACTGGATT	0.403																																						dbGAP											0													94.0	91.0	92.0					9																	111668755		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1471G>A	9.37:g.111668755C>T	ENSP00000363779:p.Glu491Lys		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.E491K	ENST00000374647.5	37	c.1471	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849609	0.32699	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.26518	1.73;1.73	5.6	5.6	0.85130	.	0.485483	0.22480	N	0.059515	T	0.27278	0.0669	M	0.65975	2.015	0.27112	N	0.962345	P	0.36392	0.551	B	0.37144	0.242	T	0.35351	-0.9792	10	0.06365	T	0.9	-11.1942	15.4873	0.75575	0.0:1.0:0.0:0.0	.	491	O95163	ELP1_HUMAN	K	491;142	ENSP00000363779:E491K;ENSP00000439367:E142K	ENSP00000363779:E491K	E	-	1	0	IKBKAP	110708576	0.035000	0.19736	0.636000	0.29352	0.669000	0.39330	2.477000	0.45180	2.813000	0.96785	0.637000	0.83480	GAG	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.403	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	149	0.00	0	C			111668755	111668755	-1	no_errors	ENST00000374647	ensembl	human	known	69_37n	missense	182	17.27	38	SNP	0.990	T
KCNA6	3742	genome.wustl.edu	37	12	4919672	4919672	+	Silent	SNP	C	C	T			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr12:4919672C>T	ENST00000280684.3	+	1	1331	c.465C>T	c.(463-465)ccC>ccT	p.P155P	KCNA6_ENST00000433855.1_Silent_p.P155P|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	155					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CCTCCCAGCCCTTCCAGCGCC	0.667										HNSCC(72;0.22)																												dbGAP											0													35.0	38.0	37.0					12																	4919672		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.465C>T	12.37:g.4919672C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.P155	ENST00000280684.3	37	c.465	CCDS8534.1	12																																																																																			KCNA6	-	NULL	ENSG00000151079		0.667	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	52	0.00	0	C	NM_002235		4919672	4919672	+1	no_errors	ENST00000280684	ensembl	human	known	69_37n	silent	25	24.24	8	SNP	1.000	T
KCNJ12	3768	genome.wustl.edu	37	17	21318782	21318782	+	Missense_Mutation	SNP	G	G	A	rs78117732	byFrequency	TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr17:21318782G>A	ENST00000583088.1	+	3	1023	c.128G>A	c.(127-129)cGc>cAc	p.R43H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R43H	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	43				R -> H (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CGCAGGTGCCGCAACCGCTTC	0.602										Prostate(3;0.18)																												dbGAP											0																																										-	-	-	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.128G>A	17.37:g.21318782G>A	ENSP00000463778:p.Arg43His		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2	p.R43H	ENST00000583088.1	37	c.128	CCDS11219.1	17	1089	0.49862637362637363	246	0.5	180	0.4972375690607735	286	0.5	377	0.4973614775725594	G	17.56	3.420800	0.62622	.	.	ENSG00000184185	ENST00000331718	T	0.35789	1.29	5.33	4.37	0.52481	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	L	0.49350	1.555	0.58432	D	0.999997	B	0.27594	0.182	B	0.20184	0.028	T	0.52997	-0.8500	10	0.54805	T	0.06	.	14.0406	0.64672	0.0731:0.0:0.9269:0.0	.	43	Q14500	IRK12_HUMAN	H	43	ENSP00000328150:R43H	ENSP00000328150:R43H	R	+	2	0	KCNJ12	21259375	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.690000	0.98676	1.265000	0.44215	0.591000	0.81541	CGC	KCNJ12	-	pfam_K_chnl_inward-rec_Kir_N,pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.602	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	8	0.00	0	G	NM_021012		21318782	21318782	+1	no_errors	ENST00000331718	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	A
KCNK9	51305	genome.wustl.edu	37	8	140631121	140631121	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr8:140631121C>T	ENST00000520439.1	-	2	568	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.G169R	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	169					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CACAGCGTCCCCATGCAGGAG	0.562																																						dbGAP											0													127.0	110.0	116.0					8																	140631121		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.505G>A	8.37:g.140631121C>T	ENSP00000430676:p.Gly169Arg		Q2M290|Q540F2	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.G169R	ENST00000520439.1	37	c.505	CCDS6377.1	8	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167561	0.78339	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.24350	1.86;1.86;1.86	5.85	5.85	0.93711	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	M	0.84082	2.675	0.80722	D	1	P	0.36733	0.567	B	0.43194	0.411	T	0.22034	-1.0228	10	0.25751	T	0.34	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	169	Q9NPC2	KCNK9_HUMAN	R	169	ENSP00000429847:G169R;ENSP00000302166:G169R;ENSP00000430676:G169R	ENSP00000302166:G169R	G	-	1	0	KCNK9	140700303	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.635000	0.83286	2.753000	0.94483	0.655000	0.94253	GGG	KCNK9	-	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK	ENSG00000169427		0.562	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	48	0.00	0	C	NM_016601		140631121	140631121	-1	no_errors	ENST00000303015	ensembl	human	known	69_37n	missense	41	45.33	34	SNP	1.000	T
KIAA0922	23240	genome.wustl.edu	37	4	154553903	154553904	+	Frame_Shift_Ins	INS	-	-	G	rs369534013		TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr4:154553903_154553904insG	ENST00000409663.3	+	32	4290_4291	c.4238_4239insG	c.(4237-4242)ccgccafs	p.P1414fs	KIAA0922_ENST00000440693.1_Frame_Shift_Ins_p.P1331fs|KIAA0922_ENST00000409959.3_Frame_Shift_Ins_p.P1415fs	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1414						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGGCCCACTCCGCCAGTGTGTG	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4239dupG	4.37:g.154553904_154553904dupG	ENSP00000386574:p.Pro1414fs		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Frame_Shift_Ins	INS	pfam_DUF3651_TMEM131	p.P1415fs	ENST00000409663.3	37	c.4241_4242	CCDS3783.2	4																																																																																			KIAA0922	-	NULL	ENSG00000121210		0.559	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	28	0.00	0	-	NM_015196		154553903	154553904	+1	no_errors	ENST00000409959	ensembl	human	known	69_37n	frame_shift_ins	30	16.67	6	INS	0.989:0.992	G
LMO7	4008	genome.wustl.edu	37	13	76382190	76382190	+	Missense_Mutation	SNP	C	C	T	rs190179934		TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr13:76382190C>T	ENST00000321797.8	+	8	1793	c.1072C>T	c.(1072-1074)Cgt>Tgt	p.R358C	LMO7_ENST00000465261.2_Missense_Mutation_p.R358C|LMO7_ENST00000526202.1_Intron|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.R643C|LMO7_ENST00000377534.3_Missense_Mutation_p.R643C|LMO7_ENST00000341547.4_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	643					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CATGCTGACACGTAAGATTCA	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18924	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													68.0	65.0	66.0					13																	76382190		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1072C>T	13.37:g.76382190C>T	ENSP00000317802:p.Arg358Cys		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.R643C	ENST00000321797.8	37	c.1927		13	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	18.78|18.78	3.696342|3.696342	0.68386|0.68386	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261|ENST00000447038	T;T;T;T|T	0.56611|0.56103	0.45;0.45;0.45;0.45|0.48	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.115168|.	0.64402|.	D|.	0.000018|.	T|T	0.68091|0.68091	0.2963|0.2963	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.65553|0.65553	-0.6140|-0.6140	10|7	0.87932|0.35671	D|T	0|0.21	-12.5622|-12.5622	14.9253|14.9253	0.70871|0.70871	0.1431:0.8569:0.0:0.0|0.1431:0.8569:0.0:0.0	.|.	643;358|.	Q8WWI1;E9PLH4|.	LMO7_HUMAN;.|.	C|M	643;643;358;358|266	ENSP00000349571:R643C;ENSP00000366757:R643C;ENSP00000317802:R358C;ENSP00000433352:R358C|ENSP00000388955:T266M	ENSP00000317802:R358C|ENSP00000388955:T266M	R|T	+|+	1|2	0|0	LMO7|LMO7	75280191|75280191	0.985000|0.985000	0.35326|0.35326	0.937000|0.937000	0.37676|0.37676	0.964000|0.964000	0.63967|0.63967	2.635000|2.635000	0.46537|0.46537	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	CGT|ACG	LMO7	-	NULL	ENSG00000136153		0.478	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	51	0.00	0	C	NM_005358		76382190	76382190	+1	no_errors	ENST00000357063	ensembl	human	known	69_37n	missense	40	57.45	54	SNP	0.999	T
LRBA	987	genome.wustl.edu	37	4	151392779	151392779	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr4:151392779C>T	ENST00000357115.3	-	44	6940	c.6697G>A	c.(6697-6699)Gca>Aca	p.A2233T	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.A2222T|LRBA_ENST00000510413.1_Missense_Mutation_p.A2222T|LRBA_ENST00000535741.1_Missense_Mutation_p.A2222T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2233	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGTTACCTGCTATCGTGTTG	0.313																																						dbGAP											0													100.0	98.0	98.0					4																	151392779		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6697G>A	4.37:g.151392779C>T	ENSP00000349629:p.Ala2233Thr		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	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	p.A2233T	ENST00000357115.3	37	c.6697	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323462	0.81580	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.28	5.28	0.74379	BEACH domain (4);	0.248350	0.41605	D	0.000852	D	0.91026	0.7177	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.96	D;D;P	0.87578	0.998;0.974;0.807	D	0.92936	0.6368	10	0.87932	D	0	.	18.0374	0.89308	0.0:1.0:0.0:0.0	.	2233;2222;123	P50851;P50851-2;Q68D03	LRBA_HUMAN;.;.	T	2222;2222;2233;2222	ENSP00000446299:A2222T;ENSP00000421552:A2222T;ENSP00000349629:A2233T;ENSP00000422180:A2222T	ENSP00000349629:A2233T	A	-	1	0	LRBA	151612229	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.685000	0.46959	2.608000	0.88229	0.650000	0.86243	GCA	LRBA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000198589		0.313	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	97	0.00	0	C			151392779	151392779	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	missense	70	38.05	43	SNP	1.000	T
MAP4	4134	genome.wustl.edu	37	3	47894422	47894423	+	3'UTR	INS	-	-	G			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr3:47894422_47894423insG	ENST00000360240.6	-	0	4076_4077				MAP4_ENST00000420772.2_Frame_Shift_Ins_p.T783fs|MAP4_ENST00000441748.2_Frame_Shift_Ins_p.T204fs|MAP4_ENST00000264724.11_3'UTR|MAP4_ENST00000383737.4_3'UTR|MAP4_ENST00000426837.2_3'UTR|MAP4_ENST00000395734.3_Frame_Shift_Ins_p.T1090fs	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	AGCCTGTAGGTCTCAATCTGCA	0.634																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.*100->C	3.37:g.47894422_47894423insG			Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Frame_Shift_Ins	INS	pfam_Tau/MAP_tubulin-bd_rpt	p.T1089fs	ENST00000360240.6	37	c.3268_3267	CCDS33750.1	3																																																																																			MAP4	-	NULL	ENSG00000047849		0.634	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	14	0.00	0	-	NM_002375		47894422	47894423	-1	no_errors	ENST00000395734	ensembl	human	known	69_37n	frame_shift_ins	14	56.25	18	INS	1.000:1.000	G
OBSL1	23363	genome.wustl.edu	37	2	220427290	220427292	+	In_Frame_Del	DEL	CAC	CAC	-	rs368405827		TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	CAC	CAC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr2:220427290_220427292delCAC	ENST00000404537.1	-	8	2841_2843	c.2785_2787delGTG	c.(2785-2787)gtgdel	p.V929del	OBSL1_ENST00000603926.1_In_Frame_Del_p.V929del|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_In_Frame_Del_p.V929del|OBSL1_ENST00000373873.4_In_Frame_Del_p.V929del|OBSL1_ENST00000373876.1_In_Frame_Del_p.V929del|OBSL1_ENST00000289656.3_In_Frame_Del_p.V516del	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	929	Ig-like 7.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGGTCCAGCGCACCTCTGCCCAG	0.665																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2785_2787delGTG	2.37:g.220427290_220427292delCAC	ENSP00000385636:p.Val929del		A4KVA4|A4KVA5|Q96IW3|S4R3M6	In_Frame_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V929in_frame_del	ENST00000404537.1	37	c.2787_2785	CCDS46520.1	2																																																																																			OBSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000124006		0.665	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	13	0.00	0	CAC			220427290	220427292	-1	no_errors	ENST00000404537	ensembl	human	known	69_37n	in_frame_del	10	33.33	5	DEL	1.000:1.000:1.000	-
OR5T1	390155	genome.wustl.edu	37	11	56043133	56043133	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr11:56043133G>T	ENST00000313033.2	+	1	105	c.19G>T	c.(19-21)Gat>Tat	p.D7Y		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GTTGCCTTCAGATATGGATCT	0.313																																						dbGAP											0													132.0	147.0	142.0					11																	56043133		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.19G>T	11.37:g.56043133G>T	ENSP00000323612:p.Asp7Tyr		B2RNM9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D7Y	ENST00000313033.2	37	c.19	CCDS31525.1	11	.	.	.	.	.	.	.	.	.	.	G	1.875	-0.459259	0.04508	.	.	ENSG00000181698	ENST00000313033	T	0.37058	1.22	2.89	-5.71	0.02413	.	11.022400	0.00357	N	0.000025	T	0.21267	0.0512	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.19811	-1.0294	10	0.42905	T	0.14	.	7.5942	0.28037	0.671:0.1383:0.1907:0.0	.	7	Q8NG75	OR5T1_HUMAN	Y	7	ENSP00000323612:D7Y	ENSP00000323612:D7Y	D	+	1	0	OR5T1	55799709	0.009000	0.17119	0.000000	0.03702	0.033000	0.12548	0.926000	0.28804	-1.324000	0.02272	-0.990000	0.02549	GAT	OR5T1	-	NULL	ENSG00000181698		0.313	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T1	HGNC	protein_coding	OTTHUMT00000391600.1	332	0.00	0	G	NM_001004745		56043133	56043133	+1	no_errors	ENST00000313033	ensembl	human	known	69_37n	missense	439	15.41	80	SNP	0.000	T
OR6B1	135946	genome.wustl.edu	37	7	143701799	143701799	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr7:143701799C>T	ENST00000408922.2	+	1	778	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	237						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(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					AAAGCGTTCTCCACTTGTGCC	0.453																																						dbGAP											0													193.0	184.0	187.0					7																	143701799		2029	4186	6215	-	-	-	SO:0001583	missense	0				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.710C>T	7.37:g.143701799C>T	ENSP00000386151:p.Ser237Phe		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S237F	ENST00000408922.2	37	c.710	CCDS43667.1	7	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837236	0.50951	.	.	ENSG00000221813	ENST00000408922	T	0.00311	8.15	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36778	U	0.002412	T	0.01092	0.0036	H	0.95004	3.61	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21827	-1.0234	10	0.87932	D	0	.	16.2042	0.82108	0.0:1.0:0.0:0.0	.	237	O95007	OR6B1_HUMAN	F	237	ENSP00000386151:S237F	ENSP00000386151:S237F	S	+	2	0	OR6B1	143332732	0.990000	0.36364	0.894000	0.35097	0.991000	0.79684	1.652000	0.37313	2.683000	0.91414	0.655000	0.94253	TCC	OR6B1	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221813		0.453	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	162	0.00	0	C			143701799	143701799	+1	no_errors	ENST00000408922	ensembl	human	known	69_37n	missense	177	20.98	47	SNP	0.159	T
OR8B8	26493	genome.wustl.edu	37	11	124310466	124310466	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr11:124310466G>T	ENST00000328064.2	-	1	588	c.516C>A	c.(514-516)aaC>aaA	p.N172K		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	172					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGTTGACAAGGTTATTGGCAC	0.502																																						dbGAP											0													163.0	132.0	142.0					11																	124310466		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.516C>A	11.37:g.124310466G>T	ENSP00000330280:p.Asn172Lys		A1L446|Q96RC8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.N172K	ENST00000328064.2	37	c.516	CCDS8446.1	11	.	.	.	.	.	.	.	.	.	.	G	6.005	0.369423	0.11352	.	.	ENSG00000197125	ENST00000328064	T	0.00216	8.53	3.67	-5.83	0.02325	GPCR, rhodopsin-like superfamily (1);	0.410441	0.20535	N	0.090433	T	0.00178	0.0005	M	0.69823	2.125	0.09310	N	1	B	0.21071	0.051	B	0.30029	0.11	T	0.51521	-0.8695	10	0.72032	D	0.01	.	1.6197	0.02711	0.4568:0.2244:0.1057:0.2131	.	172	Q15620	OR8B8_HUMAN	K	172	ENSP00000330280:N172K	ENSP00000330280:N172K	N	-	3	2	OR8B8	123815676	0.000000	0.05858	0.000000	0.03702	0.384000	0.30261	-2.717000	0.00813	-1.334000	0.02244	-0.252000	0.11476	AAC	OR8B8	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197125		0.502	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B8	HGNC	protein_coding	OTTHUMT00000387056.1	179	0.00	0	G	NM_012378		124310466	124310466	-1	no_errors	ENST00000328064	ensembl	human	putative	69_37n	missense	37	54.32	44	SNP	0.000	T
PAWR	5074	genome.wustl.edu	37	12	79990324	79990324	+	Silent	SNP	G	G	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr12:79990324G>A	ENST00000328827.4	-	5	1170	c.798C>T	c.(796-798)agC>agT	p.S266S		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	266					actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTTCCAGTGTGCTACTTGAAA	0.323																																						dbGAP											0													102.0	101.0	101.0					12																	79990324		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"""prostate apoptosis response-4"""	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.798C>T	12.37:g.79990324G>A			O75796|Q6FHY9|Q8N700	Silent	SNP	NULL	p.S266	ENST00000328827.4	37	c.798	CCDS31863.1	12																																																																																			PAWR	-	NULL	ENSG00000177425		0.323	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAWR	HGNC	protein_coding	OTTHUMT00000407175.1	67	0.00	0	G	NM_002583		79990324	79990324	-1	no_errors	ENST00000328827	ensembl	human	known	69_37n	silent	76	31.25	35	SNP	0.775	A
PDE12	201626	genome.wustl.edu	37	3	57542498	57542499	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr3:57542498_57542499delCA	ENST00000311180.8	+	1	495_496	c.392_393delCA	c.(391-393)gcafs	p.A131fs	PDE12_ENST00000487257.1_Frame_Shift_Del_p.A131fs	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	131					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CGGGAAGAGGCAGTGGCTGAGG	0.658																																					Colon(125;308 1634 19198 50622 50717)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.392_393delCA	3.37:g.57542498_57542499delCA	ENSP00000309142:p.Ala131fs		B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Frame_Shift_Del	DEL	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.A131fs	ENST00000311180.8	37	c.392_393	CCDS33772.1	3																																																																																			PDE12	-	NULL	ENSG00000174840		0.658	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE12	HGNC	protein_coding	OTTHUMT00000351440.2	11	0.00	0	CA	NM_177966		57542498	57542499	+1	no_errors	ENST00000311180	ensembl	human	known	69_37n	frame_shift_del	13	40.91	9	DEL	1.000:0.955	-
PEX5	5830	genome.wustl.edu	37	12	7343051	7343051	+	Silent	SNP	G	G	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr12:7343051G>A	ENST00000455147.2	+	3	658	c.78G>A	c.(76-78)caG>caA	p.Q26Q	PEX5_ENST00000434354.2_Silent_p.Q26Q|PEX5_ENST00000266564.3_Silent_p.Q26Q|PEX5_ENST00000412720.2_Silent_p.Q47Q|RP11-273B20.3_ENST00000543061.1_RNA|RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000420616.2_Silent_p.Q26Q|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000266563.5_Silent_p.Q26Q	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	26					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						ACTTCACCCAGGACAAGGCCC	0.672																																						dbGAP											0													43.0	48.0	46.0					12																	7343051		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.78G>A	12.37:g.7343051G>A			A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q26	ENST00000455147.2	37	c.78	CCDS44823.1	12																																																																																			PEX5	-	NULL	ENSG00000139197		0.672	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	16	0.00	0	G	NM_000319		7343051	7343051	+1	no_errors	ENST00000434354	ensembl	human	known	69_37n	silent	4	69.23	9	SNP	1.000	A
PIGV	55650	genome.wustl.edu	37	1	27124150	27124150	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr1:27124150A>T	ENST00000374145.1	+	4	1979	c.1297A>T	c.(1297-1299)Act>Tct	p.T433S	PIGV_ENST00000078527.4_Missense_Mutation_p.T433S|PIGV_ENST00000449950.2_Missense_Mutation_p.T205S	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	433					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ATCCTTAAAGACTGTGCCTTG	0.493																																						dbGAP											0													96.0	89.0	91.0					1																	27124150		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.1297A>T	1.37:g.27124150A>T	ENSP00000363260:p.Thr433Ser		D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Missense_Mutation	SNP	pfam_GPI_Mannosyltransferase_2-like	p.T433S	ENST00000374145.1	37	c.1297	CCDS287.1	1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.283970	0.23392	.	.	ENSG00000060642	ENST00000078527;ENST00000449950;ENST00000374145	D;D;D	0.82167	-1.58;-1.58;-1.58	5.14	1.43	0.22495	.	0.360610	0.31010	N	0.008439	T	0.77322	0.4113	L	0.50333	1.59	0.09310	N	1	B;P	0.40534	0.099;0.72	B;P	0.46389	0.058;0.515	T	0.63554	-0.6611	10	0.21014	T	0.42	0.0214	4.3996	0.11379	0.608:0.0:0.247:0.145	.	433;205	Q9NUD9;B4DWP9	PIGV_HUMAN;.	S	433;205;433	ENSP00000078527:T433S;ENSP00000395156:T205S;ENSP00000363260:T433S	ENSP00000078527:T433S	T	+	1	0	PIGV	26996737	0.561000	0.26578	0.011000	0.14972	0.125000	0.20455	0.507000	0.22675	0.415000	0.25817	0.379000	0.24179	ACT	PIGV	-	pfam_GPI_Mannosyltransferase_2-like	ENSG00000060642		0.493	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGV	HGNC	protein_coding	OTTHUMT00000011441.1	55	0.00	0	A	NM_017837		27124150	27124150	+1	no_errors	ENST00000078527	ensembl	human	known	69_37n	missense	56	36.36	32	SNP	0.007	T
PPP2R5B	5526	genome.wustl.edu	37	11	64700359	64700359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr11:64700359G>A	ENST00000164133.2	+	12	1861	c.1239G>A	c.(1237-1239)tgG>tgA	p.W413*		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	413					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						AGGAGCACTGGAACCAGTGAG	0.542																																						dbGAP											0													71.0	65.0	67.0					11																	64700359		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.1239G>A	11.37:g.64700359G>A	ENSP00000164133:p.Trp413*		Q13853	Nonsense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.W413*	ENST00000164133.2	37	c.1239	CCDS8085.1	11	.	.	.	.	.	.	.	.	.	.	G	43	9.844443	0.99277	.	.	ENSG00000068971	ENST00000164133;ENST00000527441	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8226	15.5514	0.76155	0.0:0.0:1.0:0.0	.	.	.	.	X	413	.	ENSP00000164133:W413X	W	+	3	0	PPP2R5B	64456935	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.192000	0.94947	2.608000	0.88229	0.655000	0.94253	TGG	PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000068971		0.542	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	25	0.00	0	G	NM_006244		64700359	64700359	+1	no_errors	ENST00000164133	ensembl	human	known	69_37n	nonsense	181	28.46	72	SNP	1.000	A
PTEN	5728	genome.wustl.edu	37	10	89653840	89653840	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr10:89653840C>G	ENST00000371953.3	+	2	1495	c.138C>G	c.(136-138)taC>taG	p.Y46*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	46	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.G44fs*11(1)|p.Y46*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGGCGTATACAGGAACAATA	0.289		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	49	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(2)|Substitution - Nonsense(1)|Complex - frameshift(1)	prostate(15)|central_nervous_system(9)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|urinary_tract(1)|NS(1)|kidney(1)											112.0	112.0	112.0					10																	89653840		2203	4296	6499	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.138C>G	10.37:g.89653840C>G	ENSP00000361021:p.Tyr46*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Y46*	ENST00000371953.3	37	c.138	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	47	13.541629	0.99748	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.423	17.4682	0.87639	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	.	Y	+	3	2	PTEN	89643820	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.415000	0.66411	2.421000	0.82119	0.655000	0.94253	TAC	PTEN	-	smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.289	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	110	0.00	0	C	NM_000314		89653840	89653840	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	nonsense	32	67.35	66	SNP	1.000	G
SH3PXD2A	9644	genome.wustl.edu	37	10	105362404	105362404	+	Silent	SNP	C	C	T	rs199688290		TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr10:105362404C>T	ENST00000369774.4	-	15	2847	c.2571G>A	c.(2569-2571)tcG>tcA	p.S857S	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.S692S|SH3PXD2A_ENST00000540321.1_Silent_p.S724S|SH3PXD2A_ENST00000355946.2_Silent_p.S829S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	857	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGCTGATCTCCGAGTCCTGGA	0.642																																						dbGAP											0													62.0	63.0	63.0					10																	105362404		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2571G>A	10.37:g.105362404C>T			D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.G784R	ENST00000369774.4	37	c.2350		10	.	.	.	.	.	.	.	.	.	.	C	2.919	-0.223520	0.06061	.	.	ENSG00000107957	ENST00000420222	.	.	.	4.56	-9.12	0.00707	.	.	.	.	.	T	0.33265	0.0857	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38802	-0.9644	4	.	.	.	-8.6589	1.5832	0.02638	0.2007:0.2019:0.1338:0.4636	.	.	.	.	R	784	.	.	G	-	1	0	SH3PXD2A	105352394	0.000000	0.05858	0.601000	0.28877	0.953000	0.61014	-4.135000	0.00288	-2.422000	0.00563	-1.250000	0.01514	GGA	SH3PXD2A	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000107957		0.642	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1	59	0.00	0	C	NM_014631		105362404	105362404	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000420222	ensembl	human	known	69_37n	missense	23	43.90	18	SNP	0.035	T
SLC18A2	6571	genome.wustl.edu	37	10	119012920	119012920	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr10:119012920C>A	ENST00000298472.5	+	4	618	c.475C>A	c.(475-477)Cca>Aca	p.P159T	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	159					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AATTGGCTATCCAATTCCCAT	0.418																																						dbGAP											0													248.0	215.0	226.0					10																	119012920		2203	4300	6503	-	-	-	SO:0001583	missense	0			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.475C>A	10.37:g.119012920C>A	ENSP00000298472:p.Pro159Thr		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P159T	ENST00000298472.5	37	c.475	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724248	0.30593	.	.	ENSG00000165646	ENST00000298472	T	0.57273	0.41	5.65	5.65	0.86999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.172009	0.52532	D	0.000069	T	0.24624	0.0597	N	0.00583	-1.355	0.48975	D	0.999739	B	0.10296	0.003	B	0.16722	0.016	T	0.21042	-1.0257	10	0.29301	T	0.29	-4.6159	17.9112	0.88934	0.0:1.0:0.0:0.0	.	159	Q05940	VMAT2_HUMAN	T	159	ENSP00000298472:P159T	ENSP00000298472:P159T	P	+	1	0	SLC18A2	119002910	1.000000	0.71417	0.858000	0.33744	0.986000	0.74619	7.584000	0.82572	2.644000	0.89710	0.650000	0.86243	CCA	SLC18A2	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165646		0.418	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1	44	0.00	0	C	NM_003054		119012920	119012920	+1	no_errors	ENST00000298472	ensembl	human	known	69_37n	missense	34	30.61	15	SNP	0.999	A
SORBS2	8470	genome.wustl.edu	37	4	186544746	186544747	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr4:186544746_186544747insT	ENST00000284776.7	-	13	2333_2334	c.1824_1825insA	c.(1822-1827)agtgacfs	p.D609fs	SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.D513fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.D709fs|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Frame_Shift_Ins_p.D609fs|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	609					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TGAATGTAGTCACTGTGGTCGG	0.54																																					Esophageal Squamous(153;41 2433 9491 36028)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1824_1825insA	4.37:g.186544746_186544747insT	ENSP00000284776:p.Asp609fs		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Ins	INS	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.D608fs	ENST00000284776.7	37	c.1825_1824	CCDS3845.1	4																																																																																			SORBS2	-	NULL	ENSG00000154556		0.540	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	45	0.00	0	-	NM_003603		186544746	186544747	-1	no_errors	ENST00000284776	ensembl	human	known	69_37n	frame_shift_ins	45	44.44	36	INS	1.000:0.761	T
TNKS1BP1	85456	genome.wustl.edu	37	11	57076427	57076428	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr11:57076427_57076428delCT	ENST00000532437.1	-	5	4068_4069	c.3757_3758delAG	c.(3757-3759)agtfs	p.S1253fs	TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.S1253fs|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1253	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCCCACGCCACTCTCTCTGGCC	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3757_3758delAG	11.37:g.57076433_57076434delCT	ENSP00000437271:p.Ser1253fs		A7E2F8|Q6PJ35|Q6ZV74	Frame_Shift_Del	DEL	NULL	p.S1253fs	ENST00000532437.1	37	c.3758_3757	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL	ENSG00000149115		0.574	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	290	0.00	0	CT	NM_033396		57076427	57076428	-1	no_errors	ENST00000358252	ensembl	human	known	69_37n	frame_shift_del	159	42.60	118	DEL	1.000:0.998	-
TTN	7273	genome.wustl.edu	37	2	179595715	179595715	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr2:179595715A>G	ENST00000591111.1	-	58	16950	c.16726T>C	c.(16726-16728)Tat>Cat	p.Y5576H	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y5893H|TTN_ENST00000342992.6_Missense_Mutation_p.Y4649H|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12393	Ig-like 36.				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)			TCGAAAGTATATTCTCCACTA	0.388																																						dbGAP											0													189.0	187.0	187.0					2																	179595715		1873	4105	5978	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16726T>C	2.37:g.179595715A>G	ENSP00000465570:p.Tyr5576His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Y4649H	ENST00000591111.1	37	c.13945		2	.	.	.	.	.	.	.	.	.	.	A	11.79	1.742723	0.30865	.	.	ENSG00000155657	ENST00000342992	T	0.79454	-1.27	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91998	0.7465	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94362	0.7588	9	0.87932	D	0	.	16.2605	0.82541	1.0:0.0:0.0:0.0	.	5576	Q8WZ42	TITIN_HUMAN	H	4649	ENSP00000343764:Y4649H	ENSP00000343764:Y4649H	Y	-	1	0	TTN	179303960	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.237000	0.73441	0.460000	0.39030	TAT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	318	0.00	0	A	NM_133378		179595715	179595715	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	175	48.98	168	SNP	1.000	G
TUBGCP5	114791	genome.wustl.edu	37	15	22866766	22866766	+	Missense_Mutation	SNP	T	T	A	rs540487781		TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr15:22866766T>A	ENST00000283645.4	+	17	2508	c.2378T>A	c.(2377-2379)gTt>gAt	p.V793D	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.V793D	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	793					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AAGCTGCCTGTTCATATCTTA	0.353																																						dbGAP											0													109.0	103.0	105.0					15																	22866766		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2378T>A	15.37:g.22866766T>A	ENSP00000283645:p.Val793Asp		E9PB12|Q6IQ52|Q96PY8	Nonsense_Mutation	SNP	pfam_Spc97_Spc98	p.C114*	ENST00000283645.4	37	c.342	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	T	21.4	4.139279	0.77775	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.07327	3.2;3.2	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000002	T	0.21103	0.0508	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73708	0.962;0.981	T	0.01874	-1.1256	10	0.23891	T	0.37	-20.7513	13.0179	0.58768	0.0:0.0:0.0:1.0	.	793;793	Q96RT8;E9PB12	GCP5_HUMAN;.	D	793	ENSP00000283645:V793D;ENSP00000409217:V793D	ENSP00000283645:V793D	V	+	2	0	TUBGCP5	20418207	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.124000	0.77185	2.018000	0.59344	0.402000	0.26972	GTT	TUBGCP5	-	pfam_Spc97_Spc98	ENSG00000153575		0.353	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	15	0.00	0	T	NM_052903		22866766	22866766	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000561214	ensembl	human	novel	69_37n	nonsense	22	29.03	9	SNP	1.000	A
UCK1	83549	genome.wustl.edu	37	9	134400562	134400563	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr9:134400562_134400563insT	ENST00000372215.4	-	7	791_792	c.698_699insA	c.(697-699)ggtfs	p.G233fs	RP11-334J6.6_ENST00000415423.1_RNA|UCK1_ENST00000372208.3_Stop_Codon_Ins|UCK1_ENST00000372211.3_Frame_Shift_Ins_p.G238fs|UCK1_ENST00000459858.1_5'Flank|UCK1_ENST00000372210.3_Frame_Shift_Ins_p.G224fs	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	233					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		TGCAGATGTCACCATTCAGAAT	0.579																																					Melanoma(42;523 1129 28385 43975 48113)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.698_699insA	9.37:g.134400562_134400563insT	ENSP00000361289:p.Gly233fs		Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Frame_Shift_Ins	INS	pfam_PRK/URK,prints_Uridine_kinase	p.D239fs	ENST00000372215.4	37	c.714_713	CCDS6944.1	9																																																																																			UCK1	-	NULL	ENSG00000130717		0.579	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCK1	HGNC	protein_coding	OTTHUMT00000054726.1	9	0.00	0	-	NM_031432		134400562	134400563	-1	no_errors	ENST00000372211	ensembl	human	known	69_37n	frame_shift_ins	10	44.44	8	INS	0.058:0.998	T
UNC5D	137970	genome.wustl.edu	37	8	35544126	35544126	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr8:35544126G>A	ENST00000404895.2	+	7	1311	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	UNC5D_ENST00000416672.1_Missense_Mutation_p.R328Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R272Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.R323Q|UNC5D_ENST00000287272.2_Missense_Mutation_p.R272Q	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	328	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.R323Q(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAACATTTGCGGATCCGGGAG	0.498																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											128.0	110.0	116.0					8																	35544126		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.983G>A	8.37:g.35544126G>A	ENSP00000385143:p.Arg328Gln		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.R328Q	ENST00000404895.2	37	c.983	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	36	5.701371	0.96812	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.80738	-1.41;0.81;0.81;-1.41;-1.41	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.91074	0.7191	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	D	0.91288	0.5057	10	0.87932	D	0	-23.8563	20.3431	0.98773	0.0:0.0:1.0:0.0	.	328;323;328	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	Q	328;272;272;328;323	ENSP00000385143:R328Q;ENSP00000392739:R272Q;ENSP00000287272:R272Q;ENSP00000412652:R328Q;ENSP00000394303:R323Q	ENSP00000287272:R272Q	R	+	2	0	UNC5D	35663668	1.000000	0.71417	0.977000	0.42913	0.981000	0.71138	9.813000	0.99286	2.880000	0.98712	0.650000	0.86243	CGG	UNC5D	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000156687		0.498	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	26	0.00	0	G			35544126	35544126	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	missense	32	27.27	12	SNP	0.973	A
VCAM1	7412	genome.wustl.edu	37	1	101190191	101190191	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr1:101190191A>T	ENST00000294728.2	+	4	774	c.673A>T	c.(673-675)Aat>Tat	p.N225Y	VCAM1_ENST00000370115.1_Missense_Mutation_p.N225Y|VCAM1_ENST00000370119.4_Missense_Mutation_p.N163Y|VCAM1_ENST00000347652.2_Missense_Mutation_p.N225Y	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	225	Ig-like C2-type 3.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ATCACCCAAGAATACAGTTAT	0.418																																						dbGAP											0													98.0	91.0	93.0					1																	101190191		2203	4299	6502	-	-	-	SO:0001583	missense	0			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.673A>T	1.37:g.101190191A>T	ENSP00000294728:p.Asn225Tyr		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N	p.N225Y	ENST00000294728.2	37	c.673	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	a	15.05	2.719253	0.48728	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.63417	2.79;-0.04;2.79;2.79	5.68	2.12	0.27331	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.045706	0.85682	D	0.000000	T	0.60508	0.2274	L	0.59436	1.845	0.38935	D	0.958029	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.73380	0.98;0.971;0.977	T	0.62205	-0.6903	10	0.59425	D	0.04	-17.5293	7.0613	0.25127	0.7262:0.0:0.2738:0.0	.	163;225;225	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	Y	163;225;225;225	ENSP00000359137:N163Y;ENSP00000304611:N225Y;ENSP00000294728:N225Y;ENSP00000359133:N225Y	ENSP00000294728:N225Y	N	+	1	0	VCAM1	100962779	0.990000	0.36364	0.687000	0.30102	0.872000	0.50106	0.950000	0.29122	0.115000	0.18071	-0.264000	0.10439	AAT	VCAM1	-	pfscan_Ig-like,prints_VCAM-1	ENSG00000162692		0.418	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	108	0.00	0	A	NM_001078		101190191	101190191	+1	no_errors	ENST00000294728	ensembl	human	known	69_37n	missense	91	11.65	12	SNP	0.980	T
MOG	4340	genome.wustl.edu	37	6	29640364	29640364	+	IGR	SNP	G	G	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr6:29640364G>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Silent_p.I488I|ZFP57_ENST00000376881.3_Silent_p.I488I|ZFP57_ENST00000488757.1_Silent_p.I508I	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TGGGGGTATGGATCCTGGGGG	0.527																																						dbGAP											0													85.0	90.0	88.0					6																	29640364		1233	2566	3799	-	-	-	SO:0001628	intergenic_variant	0				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640364G>A			A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	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.I508	ENST00000376917.3	37	c.1524	CCDS34370.1	6																																																																																			ZFP57	-	NULL	ENSG00000204644		0.527	MOG-001	KNOWN	basic|CCDS	protein_coding	ZFP57	HGNC	protein_coding	OTTHUMT00000076160.3	83	0.00	0	G	NM_002433		29640364	29640364	-1	no_errors	ENST00000488757	ensembl	human	known	69_37n	silent	100	23.08	30	SNP	0.025	A
ZNF726	730087	genome.wustl.edu	37	19	24116032	24116032	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09E-01A-11W-A019-09	TCGA-A8-A09E-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d6465963-5ea6-44a5-96b0-dff0b0fae4c4	950408ef-e597-4d7c-852d-865fbc66f75d	g.chr19:24116032G>A	ENST00000594466.1	+	4	1219	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000322487.7_Missense_Mutation_p.E372K|ZNF726_ENST00000334589.5_Intron|ZNF726_ENST00000575986.1_Intron	NM_001244038.1	NP_001230967.1	A6NNF4	ZN726_HUMAN	zinc finger protein 726	372					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)										CTACAAATGTGAAGAATGTGG	0.403																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			DQ036016, BC046415	CCDS59372.1	19p12	2013-01-08			ENSG00000213967	ENSG00000213967		"""Zinc fingers, C2H2-type"", ""-"""	32462	protein-coding gene	gene with protein product							Standard	NM_001244038		Approved		uc021urw.1	A6NNF4	OTTHUMG00000167681	ENST00000594466.1:c.1114G>A	19.37:g.24116032G>A	ENSP00000471516:p.Glu372Lys		M0R0X8|Q86Y87	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.E372K	ENST00000594466.1	37	c.1114	CCDS59372.1	19	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.711136	0.00712	.	.	ENSG00000213967	ENST00000322487	T	0.06608	3.28	0.814	-0.527	0.11909	.	.	.	.	.	T	0.01976	0.0062	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.46610	-0.9179	6	0.07030	T	0.85	.	1.4174	0.02305	0.3154:0.0:0.3355:0.349	.	.	.	.	K	372	ENSP00000317125:E372K	ENSP00000317125:E372K	E	+	1	0	ZNF726	23907872	0.000000	0.05858	0.419000	0.26584	0.420000	0.31355	-2.614000	0.00883	0.183000	0.20059	0.186000	0.17326	GAA	ZNF726	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213967		0.403	ZNF726-005	PUTATIVE	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF726	HGNC	protein_coding	OTTHUMT00000466443.1	182	0.55	1	G	XM_001715134		24116032	24116032	+1	no_errors	ENST00000322487	ensembl	human	known	69_37n	missense	127	35.86	71	SNP	0.007	A
