#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
APC	324	genome.wustl.edu	37	5	112177283	112177283	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chr5:112177283G>A	ENST00000457016.1	+	16	6372	c.5992G>A	c.(5992-5994)Gaa>Aaa	p.E1998K	APC_ENST00000508376.2_Missense_Mutation_p.E1998K|APC_ENST00000257430.4_Missense_Mutation_p.E1998K|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1998	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTCACAGGGAGAACCAAGTAA	0.403		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)											74.0	74.0	74.0					5																	112177283		2201	4298	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5992G>A	5.37:g.112177283G>A	ENSP00000413133:p.Glu1998Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E1998K	ENST00000457016.1	37	c.5992	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242049	0.22796	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.88277	-2.36;-2.36;-2.36	5.86	4.99	0.66335	.	0.138197	0.64402	D	0.000003	D	0.82683	0.5090	L	0.27053	0.805	0.45762	D	0.998658	B;B	0.24258	0.1;0.1	B;B	0.21708	0.036;0.036	T	0.77343	-0.2623	9	.	.	.	-16.8821	17.2461	0.87028	0.0:0.1254:0.8746:0.0	.	2000;1998	Q4LE70;P25054	.;APC_HUMAN	K	1998	ENSP00000413133:E1998K;ENSP00000257430:E1998K;ENSP00000427089:E1998K	.	E	+	1	0	APC	112205182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.226000	0.78060	1.464000	0.47987	0.650000	0.86243	GAA	APC	-	NULL	ENSG00000134982		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	238	0.00	0	G	NM_000038		112177283	112177283	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	202	11.79	27	SNP	1.000	A
ARHGAP26	23092	genome.wustl.edu	37	5	142150475	142150475	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chr5:142150475T>C	ENST00000274498.4	+	1	527	c.149T>C	c.(148-150)cTc>cCc	p.L50P	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.L50P	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	50					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATAAGCGCGCTCAAGAGTGAG	0.627																																						dbGAP											0													52.0	49.0	50.0					5																	142150475		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.149T>C	5.37:g.142150475T>C	ENSP00000274498:p.Leu50Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.L50P	ENST00000274498.4	37	c.149	CCDS4277.1	5	.	.	.	.	.	.	.	.	.	.	T	19.67	3.871506	0.72065	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	T;T	0.32023	1.47;1.47	5.71	5.71	0.89125	IRSp53/MIM homology domain (IMD) (2);	0.153604	0.42294	D	0.000729	T	0.42314	0.1197	L	0.43923	1.385	0.80722	D	1	P;P	0.48016	0.904;0.572	P;B	0.56042	0.79;0.395	T	0.11542	-1.0583	10	0.36615	T	0.2	.	14.9771	0.71283	0.0:0.0:0.0:1.0	.	50;50	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	P	50	ENSP00000274498:L50P;ENSP00000367243:L50P	ENSP00000274498:L50P	L	+	2	0	ARHGAP26	142130659	0.608000	0.26966	1.000000	0.80357	0.455000	0.32408	2.136000	0.42121	2.172000	0.68678	0.460000	0.39030	CTC	ARHGAP26	-	pfam_IRSp53/MIM_homology_IMD	ENSG00000145819		0.627	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP26	HGNC	protein_coding	OTTHUMT00000132744.3	38	0.00	0	T	NM_015071		142150475	142150475	+1	no_errors	ENST00000274498	ensembl	human	known	69_37n	missense	26	12.90	4	SNP	1.000	C
CARD16	114769	genome.wustl.edu	37	11	104915136	104915136	+	Missense_Mutation	SNP	G	G	A	rs148140246		TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chr11:104915136G>A	ENST00000375706.2	-	2	274	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CARD16_ENST00000375704.3_Missense_Mutation_p.T86M|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.T86M|CASP1_ENST00000415981.2_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	86	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						GAGTCCCAGCGTCTCTGCCAG	0.463													.|||	0	0.0	0.0	0.0	5008	,	,		20974	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													192.0	168.0	176.0					11																	104915136		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.257C>T	11.37:g.104915136G>A	ENSP00000364858:p.Thr86Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96RJ9	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	p.T86M	ENST00000375706.2	37	c.257	CCDS31661.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	8.414	0.844860	0.16963	.	.	ENSG00000204397	ENST00000375706;ENST00000375704;ENST00000525374;ENST00000528513	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	3.12	-6.24	0.02046	DEATH-like (2);Caspase Recruitment (3);	0.517985	0.19227	U	0.119509	T	0.14787	0.0357	M	0.70595	2.14	0.09310	N	1	P;P	0.43826	0.818;0.723	B;B	0.38842	0.283;0.07	T	0.02698	-1.1122	10	0.42905	T	0.14	.	3.488	0.07627	0.2884:0.0:0.4288:0.2828	.	86;86	Q5EG05;Q5EG05-2	CAR16_HUMAN;.	M	86;86;86;70	ENSP00000364858:T86M;ENSP00000364856:T86M;ENSP00000433700:T86M;ENSP00000432485:T70M	ENSP00000364856:T86M	T	-	2	0	CARD16	104420346	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.655000	0.01982	-1.117000	0.02965	0.484000	0.47621	ACG	CARD16	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	ENSG00000204397		0.463	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CARD16	HGNC	protein_coding	OTTHUMT00000388147.1	320	0.00	0	G			104915136	104915136	-1	no_errors	ENST00000375706	ensembl	human	known	69_37n	missense	327	11.35	42	SNP	0.000	A
DMD	1756	genome.wustl.edu	37	X	31525503	31525503	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chrX:31525503delA	ENST00000357033.4	-	56	8491	c.8285delT	c.(8284-8286)atcfs	p.I2762fs	DMD_ENST00000541735.1_Frame_Shift_Del_p.I302fs|DMD_ENST00000359836.1_Frame_Shift_Del_p.I302fs|DMD_ENST00000343523.2_Frame_Shift_Del_p.I302fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.I2758fs|DMD_ENST00000474231.1_Frame_Shift_Del_p.I302fs|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378707.3_Frame_Shift_Del_p.I302fs	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2762					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGATCTCAGGATTTTTTGGCT	0.433																																						dbGAP											0													151.0	123.0	133.0					X																	31525503		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8285delT	X.37:g.31525503delA	ENSP00000354923:p.Ile2762fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.I2762fs	ENST00000357033.4	37	c.8285	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.433	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	667	0.00	0	A	NM_004006		31525503	31525503	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	frame_shift_del	470	13.70	77	DEL	1.000	-
HS6ST1	9394	genome.wustl.edu	37	2	129025860	129025860	+	Missense_Mutation	SNP	C	C	T	rs147436494		TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chr2:129025860C>T	ENST00000259241.6	-	2	1125	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	371					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCTCCTCAGGCGCTGCTCCCT	0.677																																						dbGAP											0													32.0	41.0	38.0					2																	129025860		2097	4251	6348	-	-	-	SO:0001583	missense	0			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.1112G>A	2.37:g.129025860C>T	ENSP00000259241:p.Arg371His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	pfam_Sulfotransferase	p.R371H	ENST00000259241.6	37	c.1112	CCDS42748.1	2	591	0.2706043956043956	87	0.17682926829268292	106	0.292817679558011	168	0.2937062937062937	230	0.3034300791556728	C	28.0	4.883726	0.91814	.	.	ENSG00000136720	ENST00000259241	D	0.85339	-1.97	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.00039	0.0001	M	0.74647	2.275	0.09310	P	0.99999999795479	D	0.76494	0.999	D	0.76071	0.987	T	0.00000	-1.3594	8	.	.	.	-12.2845	17.1367	0.86742	0.0:1.0:0.0:0.0	.	371	O60243	H6ST1_HUMAN	H	371	ENSP00000259241:R371H	.	R	-	2	0	HS6ST1	128742330	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.243000	0.78219	2.099000	0.63709	0.462000	0.41574	CGC	HS6ST1	-	NULL	ENSG00000136720		0.677	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	24	0.00	0	C	NM_004807		129025860	129025860	-1	no_errors	ENST00000259241	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	1.000	T
KDM4A	9682	genome.wustl.edu	37	1	44137307	44137307	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chr1:44137307C>T	ENST00000372396.3	+	11	1629	c.1495C>T	c.(1495-1497)Ctt>Ttt	p.L499F		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	499					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGGGGGACGCCTTGTCTTCTC	0.478																																						dbGAP											0													95.0	96.0	96.0					1																	44137307		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1495C>T	1.37:g.44137307C>T	ENSP00000361473:p.Leu499Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.L499F	ENST00000372396.3	37	c.1495	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	C	6.798	0.516321	0.12944	.	.	ENSG00000066135	ENST00000372396	T	0.16073	2.37	5.06	5.06	0.68205	.	0.926261	0.09263	N	0.826251	T	0.15478	0.0373	N	0.22421	0.69	0.30562	N	0.76437	P	0.48407	0.91	B	0.41135	0.348	T	0.06917	-1.0800	10	0.56958	D	0.05	-18.2565	14.6516	0.68800	0.0:1.0:0.0:0.0	.	499	O75164	KDM4A_HUMAN	F	499	ENSP00000361473:L499F	ENSP00000361473:L499F	L	+	1	0	KDM4A	43909894	0.014000	0.17966	0.976000	0.42696	0.815000	0.46073	0.409000	0.21082	2.729000	0.93468	0.650000	0.86243	CTT	KDM4A	-	NULL	ENSG00000066135		0.478	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	268	0.00	0	C	NM_014663		44137307	44137307	+1	no_errors	ENST00000372396	ensembl	human	known	69_37n	missense	216	10.00	24	SNP	0.950	T
MAGIX	79917	genome.wustl.edu	37	X	49021218	49021218	+	Silent	SNP	A	A	T			TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chrX:49021218A>T	ENST00000412696.2	+	4	297	c.297A>T	c.(295-297)acA>acT	p.T99T	MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000376339.1_Silent_p.T40T|MAGIX_ENST00000376338.3_Silent_p.T40T|MAGIX_ENST00000498742.1_Intron	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	99																	GGTTAGAGACATGTAACGCAC	0.552																																						dbGAP											0													124.0	122.0	123.0					X																	49021218		2052	4167	6219	-	-	-	SO:0001819	synonymous_variant	0			AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.297A>T	X.37:g.49021218A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6XND4|A8MSX9|B7WP26|Q14C81	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T99	ENST00000412696.2	37	c.297	CCDS48106.1	X																																																																																			MAGIX	-	superfamily_PDZ	ENSG00000017621		0.552	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGIX	HGNC	protein_coding	OTTHUMT00000378832.1	93	0.00	0	A	NM_024859		49021218	49021218	+1	no_errors	ENST00000412696	ensembl	human	known	69_37n	silent	107	12.80	16	SNP	0.000	T
ANK1	286	genome.wustl.edu	37	8	41517976	41517976	+	Intron	SNP	G	G	T			TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chr8:41517976G>T	ENST00000347528.4	-	41	5703				RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000522231.1_Intron|MIR486_ENST00000408108.1_RNA|ANK1_ENST00000522543.1_Intron|ANK1_ENST00000314214.8_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000265709.8_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000396942.1_Intron|ANK1_ENST00000289734.7_Intron	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTACTGAGCTGCCCCGAGCTG	0.652																																						dbGAP											0													6.0	7.0	7.0					8																	41517976		1190	2710	3900	-	-	-	SO:0001627	intron_variant	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5619+1342C>A	8.37:g.41517976G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	RNA	SNP	-	NULL	ENST00000347528.4	37	NULL	CCDS6119.1	8																																																																																			MIR486	-	-	ENSG00000221035		0.652	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MIR486	HGNC	protein_coding	OTTHUMT00000317297.1	19	0.00	0	G	NM_020475		41517976	41517976	+1	no_errors	ENST00000408108	ensembl	human	known	69_37n	rna	10	28.57	4	SNP	1.000	T
PDCD6IP	10015	genome.wustl.edu	37	3	33855109	33855109	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chr3:33855109C>T	ENST00000307296.3	+	3	700	c.323C>T	c.(322-324)tCt>tTt	p.S108F	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.S108F|PDCD6IP_ENST00000498147.1_3'UTR			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	108	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTTGGAGGCTCTGTAAAACTG	0.318																																						dbGAP											0													137.0	143.0	141.0					3																	33855109		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.323C>T	3.37:g.33855109C>T	ENSP00000307387:p.Ser108Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.S108F	ENST00000307296.3	37	c.323	CCDS2660.1	3	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880947	0.91740	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.13778	2.56;2.57	5.41	5.41	0.78517	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.35653	0.0939	M	0.74881	2.28	0.80722	D	1	P;B;P	0.52577	0.782;0.297;0.954	B;B;P	0.56823	0.276;0.259;0.807	T	0.08785	-1.0705	10	0.72032	D	0.01	-5.8159	19.1809	0.93623	0.0:1.0:0.0:0.0	.	108;108;108	C5MQH7;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	F	108	ENSP00000307387:S108F;ENSP00000411825:S108F	ENSP00000307387:S108F	S	+	2	0	PDCD6IP	33830113	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.382000	0.79729	2.534000	0.85438	0.563000	0.77884	TCT	PDCD6IP	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000170248		0.318	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	496	0.00	0	C			33855109	33855109	+1	no_errors	ENST00000457054	ensembl	human	known	69_37n	missense	241	10.41	28	SNP	1.000	T
PHACTR3	116154	genome.wustl.edu	37	20	58322833	58322833	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chr20:58322833G>A	ENST00000371015.1	+	3	768	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	PHACTR3_ENST00000541461.1_Missense_Mutation_p.G60S|PHACTR3_ENST00000361300.4_Missense_Mutation_p.G60S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.G60S|PHACTR3_ENST00000395639.4_Missense_Mutation_p.G60S|PHACTR3_ENST00000359926.3_Missense_Mutation_p.G98S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.G60S	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	101						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAAGATGGCCGGCAGGCAAGG	0.617																																						dbGAP											0													148.0	134.0	138.0					20																	58322833		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.301G>A	20.37:g.58322833G>A	ENSP00000360054:p.Gly101Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.G101S	ENST00000371015.1	37	c.301	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	G	5.861	0.343116	0.11069	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.28454	2.01;2.02;1.61;2.02;2.02;2.02;1.61	4.26	-2.16	0.07080	.	0.937252	0.09109	N	0.847357	T	0.16938	0.0407	N	0.25647	0.755	0.09310	N	1	B;B;B	0.15719	0.003;0.002;0.014	B;B;B	0.08055	0.003;0.002;0.003	T	0.37103	-0.9720	10	0.07175	T	0.84	-10.9516	10.0621	0.42282	0.4612:0.0:0.5388:0.0	.	60;101;98	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	S	98;101;60;60;60;60;60	ENSP00000353002:G98S;ENSP00000360054:G101S;ENSP00000379001:G60S;ENSP00000442483:G60S;ENSP00000347866:G60S;ENSP00000378998:G60S;ENSP00000354555:G60S	ENSP00000347866:G60S	G	+	1	0	PHACTR3	57756228	0.042000	0.20092	0.553000	0.28255	0.916000	0.54674	0.572000	0.23684	-0.191000	0.10448	-0.251000	0.11542	GGC	PHACTR3	-	smart_RPEL_repeat,pfscan_RPEL_repeat	ENSG00000087495		0.617	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	255	0.00	0	G	NM_080672		58322833	58322833	+1	no_errors	ENST00000371015	ensembl	human	known	69_37n	missense	269	10.30	31	SNP	0.037	A
PRKD2	25865	genome.wustl.edu	37	19	47204110	47204110	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chr19:47204110T>C	ENST00000291281.4	-	7	1292	c.1067A>G	c.(1066-1068)gAg>gGg	p.E356G	PRKD2_ENST00000595515.1_Missense_Mutation_p.E356G|PRKD2_ENST00000600194.1_Missense_Mutation_p.E199G|PRKD2_ENST00000433867.1_Missense_Mutation_p.E356G|PRKD2_ENST00000601806.1_Missense_Mutation_p.E199G			Q9BZL6	KPCD2_HUMAN	protein kinase D2	356					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GAGCGCATTCTCTGAGTGGGA	0.617																																						dbGAP											0													64.0	52.0	56.0					19																	47204110		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1067A>G	19.37:g.47204110T>C	ENSP00000291281:p.Glu356Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_DAG/PE-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E356G	ENST00000291281.4	37	c.1067	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	T	10.12	1.263658	0.23136	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.67523	-0.27;-0.27	4.18	4.18	0.49190	.	0.294465	0.28388	N	0.015521	T	0.58104	0.2099	L	0.51422	1.61	0.28062	N	0.932931	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.51434	-0.8706	10	0.32370	T	0.25	-30.255	11.1497	0.48451	0.0:0.0:0.0:1.0	.	356;356	E7ER94;Q9BZL6	.;KPCD2_HUMAN	G	356	ENSP00000291281:E356G;ENSP00000393978:E356G	ENSP00000291281:E356G	E	-	2	0	PRKD2	51895950	1.000000	0.71417	0.629000	0.29254	0.517000	0.34286	2.438000	0.44837	1.903000	0.55091	0.454000	0.30748	GAG	PRKD2	-	NULL	ENSG00000105287		0.617	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	52	0.00	0	T	NM_016457		47204110	47204110	-1	no_errors	ENST00000291281	ensembl	human	known	69_37n	missense	57	19.72	14	SNP	0.854	C
RGPD3	653489	genome.wustl.edu	37	2	107041128	107041128	+	Silent	SNP	G	G	A			TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chr2:107041128G>A	ENST00000409886.3	-	20	3382	c.3295C>T	c.(3295-3297)Ctg>Ttg	p.L1099L	RGPD3_ENST00000304514.7_Silent_p.L1099L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1099	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTTTGCATCAGCATTCTTACT	0.398																																						dbGAP											0													30.0	22.0	24.0					2																	107041128		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3295C>T	2.37:g.107041128G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZM4	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L1099	ENST00000409886.3	37	c.3295	CCDS46379.1	2																																																																																			RGPD3	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000153165		0.398	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	279	0.00	0	G	XM_929931		107041128	107041128	-1	no_errors	ENST00000304514	ensembl	human	known	69_37n	silent	177	14.49	30	SNP	1.000	A
SLC1A6	6511	genome.wustl.edu	37	19	15063812	15063812	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chr19:15063812A>G	ENST00000221742.3	-	8	1434	c.1427T>C	c.(1426-1428)aTg>aCg	p.M476T	SLC1A6_ENST00000600144.1_Missense_Mutation_p.M398T|SLC1A6_ENST00000430939.2_Missense_Mutation_p.M412T	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	476					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CACAATGACCATGGTGACCAG	0.617																																						dbGAP											0													150.0	127.0	135.0					19																	15063812		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1427T>C	19.37:g.15063812A>G	ENSP00000221742:p.Met476Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.M476T	ENST00000221742.3	37	c.1427	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	-	19.56	3.849734	0.71603	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.58797	0.31;0.31	4.41	4.41	0.53225	.	0.039989	0.85682	D	0.000000	T	0.71846	0.3388	M	0.76433	2.335	0.80722	D	1	D;D	0.71674	0.998;0.99	D;P	0.63703	0.917;0.877	T	0.75994	-0.3121	10	0.87932	D	0	-37.2258	11.9112	0.52739	1.0:0.0:0.0:0.0	.	412;476	E7EV13;P48664	.;EAA4_HUMAN	T	412;476	ENSP00000409386:M412T;ENSP00000221742:M476T	ENSP00000221742:M476T	M	-	2	0	SLC1A6	14924812	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.899000	0.92544	1.983000	0.57843	0.366000	0.22137	ATG	SLC1A6	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	ENSG00000105143		0.617	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	61	0.00	0	A	NM_005071		15063812	15063812	-1	no_errors	ENST00000221742	ensembl	human	known	69_37n	missense	69	15.85	13	SNP	1.000	G
SYNE2	23224	genome.wustl.edu	37	14	64557671	64557671	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chr14:64557671A>G	ENST00000344113.4	+	60	12093	c.11881A>G	c.(11881-11883)Atg>Gtg	p.M3961V	SYNE2_ENST00000358025.3_Missense_Mutation_p.M3961V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.M346V|SYNE2_ENST00000555002.1_Missense_Mutation_p.M595V|SYNE2_ENST00000394768.2_Missense_Mutation_p.M346V|SYNE2_ENST00000554584.1_Missense_Mutation_p.M3994V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3961					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAAACAGGAATGAAACCTCT	0.358																																						dbGAP											0													78.0	73.0	74.0					14																	64557671		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11881A>G	14.37:g.64557671A>G	ENSP00000341781:p.Met3961Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.M3961V	ENST00000344113.4	37	c.11881	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	A	7.040	0.562319	0.13498	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.52526	1.06;4.33;1.06;0.66;4.4;4.33	5.8	-0.839	0.10759	.	0.939847	0.09001	N	0.862988	T	0.35098	0.0920	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.33675	-0.9859	10	0.09338	T	0.73	.	7.523	0.27639	0.4734:0.1224:0.4042:0.0	.	346;3995;3961;3961	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	V	3961;346;3961;3994;3994;595;346	ENSP00000350719:M3961V;ENSP00000349969:M346V;ENSP00000341781:M3961V;ENSP00000452570:M3994V;ENSP00000450831:M595V;ENSP00000378249:M346V	ENSP00000261678:M3994V	M	+	1	0	SYNE2	63627424	0.145000	0.22656	0.002000	0.10522	0.957000	0.61999	0.013000	0.13310	-0.097000	0.12307	-0.379000	0.06801	ATG	SYNE2	-	NULL	ENSG00000054654		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	161	0.00	0	A	NM_182914		64557671	64557671	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	80	12.09	11	SNP	0.003	G
ZNF565	147929	genome.wustl.edu	37	19	36673496	36673496	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AX-01A-11D-A12Q-09	TCGA-AR-A1AX-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	71a3cf72-3539-4ade-97d1-6a1bd1ee4205	9bb2ccce-9687-4194-b8c5-207e5f18bc1e	g.chr19:36673496G>A	ENST00000355114.5	-	5	2218	c.1492C>T	c.(1492-1494)Cgt>Tgt	p.R498C	ZNF565_ENST00000304116.5_Missense_Mutation_p.R458C|ZNF565_ENST00000392173.2_Missense_Mutation_p.R458C			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	498					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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TGTGAACTACGAATAAAGGCC	0.433																																						dbGAP											0													135.0	110.0	119.0					19																	36673496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1492C>T	19.37:g.36673496G>A	ENSP00000347234:p.Arg498Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ35|Q6NUS2	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.R458C	ENST00000355114.5	37	c.1372		19	.	.	.	.	.	.	.	.	.	.	g	7.809	0.715208	0.15306	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.08102	3.13;3.13;3.13	4.81	3.75	0.43078	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37809	N	0.001926	T	0.07188	0.0182	L	0.42008	1.315	0.09310	N	1	B	0.30664	0.289	B	0.17433	0.018	T	0.25950	-1.0117	10	0.37606	T	0.19	.	10.3854	0.44136	0.0:0.0:0.6435:0.3565	.	458	Q8N9K5	ZN565_HUMAN	C	458;458;498	ENSP00000376013:R458C;ENSP00000306869:R458C;ENSP00000347234:R498C	ENSP00000306869:R458C	R	-	1	0	ZNF565	41365336	0.000000	0.05858	0.918000	0.36340	0.005000	0.04900	-0.045000	0.12003	1.377000	0.46286	-0.187000	0.12897	CGT	ZNF565	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196357		0.433	ZNF565-003	PUTATIVE	basic	protein_coding	ZNF565	HGNC	protein_coding	OTTHUMT00000451697.1	249	0.00	0	G	NM_152477		36673496	36673496	-1	no_errors	ENST00000304116	ensembl	human	known	69_37n	missense	263	11.15	33	SNP	0.007	A
