#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA9	10350	genome.wustl.edu	37	17	67045564	67045564	+	Missense_Mutation	SNP	T	T	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr17:67045564T>A	ENST00000340001.4	-	3	375	c.164A>T	c.(163-165)cAt>cTt	p.H55L	ABCA9_ENST00000370732.2_Missense_Mutation_p.H55L|ABCA9_ENST00000453985.2_Missense_Mutation_p.H55L|ABCA9_ENST00000495634.1_Missense_Mutation_p.H55L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	55					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGGAGTGTCATGAACTTGATG	0.338																																																	0													128.0	129.0	129.0					17																	67045564		2203	4300	6503	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.164A>T	17.37:g.67045564T>A	ENSP00000342216:p.His55Leu		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H55L	ENST00000340001.4	37	c.164	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	T	0.212	-1.035446	0.02029	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86769	-2.06;-2.17	4.78	-0.33	0.12683	.	0.796800	0.10628	N	0.652517	T	0.74794	0.3763	L	0.36672	1.1	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.16289	0.015;0.004	T	0.55270	-0.8167	10	0.11794	T	0.64	.	2.6076	0.04882	0.3366:0.192:0.0:0.4714	.	55;55	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	L	55;38;55;50	ENSP00000342216:H55L;ENSP00000359767:H55L	ENSP00000342216:H55L	H	-	2	0	ABCA9	64557159	0.139000	0.22563	0.064000	0.19789	0.001000	0.01503	0.313000	0.19415	0.081000	0.16988	-0.256000	0.11100	CAT	ABCA9	-	NULL		0.338	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	T	NM_172386		67045564	-1	no_errors	ENST00000340001	ensembl	human	known	70_37	missense	SNP	0.003	A
APC	324	genome.wustl.edu	37	5	112179351	112179351	+	Missense_Mutation	SNP	C	C	T	rs144746572		TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr5:112179351C>T	ENST00000457016.1	+	16	8440	c.8060C>T	c.(8059-8061)tCa>tTa	p.S2687L	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.S2687L|APC_ENST00000257430.4_Missense_Mutation_p.S2687L			P25054	APC_HUMAN	adenomatous polyposis coli	2687	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)		GACAGTGTTTCAGAAAAGGCA	0.423		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)		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)						C	LEU/SER,LEU/SER,LEU/SER	0,4404		0,0,2202	84.0	87.0	86.0		8060,8060,8006	4.4	1.0	5	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	145,145,145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	2687/2844,2687/2844,2669/2826	112179351	1,13003	2202	4300	6502	SO:0001583	missense	324	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.8060C>T	5.37:g.112179351C>T	ENSP00000413133:p.Ser2687Leu		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S2687L	ENST00000457016.1	37	c.8060	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	9.072	0.997167	0.19043	0.0	1.16E-4	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.76060	-0.99;-0.99;-0.99	6.17	4.42	0.53409	EB-1 binding (1);	0.296212	0.34002	N	0.004342	T	0.53012	0.1770	N	0.12182	0.205	0.30835	N	0.73627	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.48681	-0.9014	9	.	.	.	-4.9809	9.2598	0.37605	0.0:0.7326:0.0:0.2674	.	2689;2687	Q4LE70;P25054	.;APC_HUMAN	L	2687	ENSP00000413133:S2687L;ENSP00000257430:S2687L;ENSP00000427089:S2687L	.	S	+	2	0	APC	112207250	0.962000	0.33011	0.992000	0.48379	0.998000	0.95712	0.697000	0.25556	0.951000	0.37770	0.655000	0.94253	TCA	APC	-	pfam_EB1-bd		0.423	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	C	NM_000038		112179351	+1	no_errors	ENST00000257430	ensembl	human	known	70_37	missense	SNP	0.974	T
ATP9A	10079	genome.wustl.edu	37	20	50287703	50287703	+	Silent	SNP	C	C	T	rs146526523		TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr20:50287703C>T	ENST00000338821.5	-	12	1395	c.1131G>A	c.(1129-1131)acG>acA	p.T377T	ATP9A_ENST00000311637.5_Silent_p.T241T|ATP9A_ENST00000402822.1_Silent_p.T256T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	377					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTCAGGAATCGTGCTGGAGC	0.552																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	89.0	76.0	81.0		1131	-10.4	0.1	20	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP9A	NM_006045.1		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		377/1048	50287703	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1131G>A	20.37:g.50287703C>T			E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T377	ENST00000338821.5	37	c.1131	CCDS33489.1	20																																																																																			ATP9A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.552	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	C	NM_006045		50287703	-1	no_errors	ENST00000338821	ensembl	human	known	70_37	silent	SNP	0.104	T
BCORL1	63035	genome.wustl.edu	37	X	129139195	129139195	+	5'UTR	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chrX:129139195G>A	ENST00000218147.7	+	0	185				BCORL1_ENST00000359304.2_5'UTR|BCORL1_ENST00000540052.1_5'UTR|BCORL1_ENST00000303743.5_5'UTR|BCORL1_ENST00000607874.1_3'UTR			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTATCTGGTGGTGAGTGGCTG	0.527																																																	0													142.0	126.0	132.0					X																	129139195		2203	4300	6503	SO:0001623	5_prime_UTR_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.-13G>A	X.37:g.129139195G>A			B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	RNA	SNP	-	NULL	ENST00000218147.7	37	NULL	CCDS14616.1	X																																																																																			BCORL1	-	-		0.527	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	G	NM_021946		129139195	+1	no_errors	ENST00000488135	ensembl	human	known	70_37	rna	SNP	0.997	A
BPIFB4	149954	genome.wustl.edu	37	20	31695549	31695549	+	Splice_Site	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr20:31695549G>A	ENST00000375483.3	+	15	1744		c.e15-1		BPIFB4_ENST00000494121.1_Splice_Site	NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4							cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TTATTTTACAGCTGTGCTGGG	0.458																																																	0													128.0	108.0	115.0					20																	31695549		2203	4300	6503	SO:0001630	splice_region_variant	149954			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1745-1G>A	20.37:g.31695549G>A			Q5TDX6	Splice_Site	SNP	-	e15-1	ENST00000375483.3	37	c.1745-1	CCDS13213.2	20	.	.	.	.	.	.	.	.	.	.	.	12.18	1.859516	0.32884	.	.	ENSG00000186191	ENST00000375483	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7318	0.69388	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPIFB4	31159210	1.000000	0.71417	0.988000	0.46212	0.229000	0.25112	5.030000	0.64128	2.860000	0.98153	0.655000	0.94253	.	BPIFB4	-	-		0.458	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	G	NM_182519	Intron	31695549	+1	no_errors	ENST00000375483	ensembl	human	known	70_37	splice_site	SNP	0.999	A
CASKIN2	57513	genome.wustl.edu	37	17	73497691	73497691	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr17:73497691G>A	ENST00000321617.3	-	19	3962	c.3376C>T	c.(3376-3378)Cgc>Tgc	p.R1126C	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R1044C	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1126	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCACTGGGCGGGGGCCGAGC	0.667																																																	0													22.0	32.0	29.0					17																	73497691		2155	4224	6379	SO:0001583	missense	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3376C>T	17.37:g.73497691G>A	ENSP00000325355:p.Arg1126Cys		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.R1126C	ENST00000321617.3	37	c.3376	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516479	0.64634	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70045	-0.45;-0.27	5.61	5.61	0.85477	.	0.000000	0.47093	D	0.000253	T	0.55593	0.1930	N	0.24115	0.695	0.80722	D	1	B	0.19706	0.038	B	0.10450	0.005	T	0.53549	-0.8423	10	0.62326	D	0.03	.	16.7958	0.85601	0.0:0.0:1.0:0.0	.	1126	Q8WXE0	CSKI2_HUMAN	C	1126;1044	ENSP00000325355:R1126C;ENSP00000406963:R1044C	ENSP00000325355:R1126C	R	-	1	0	CASKIN2	71009286	0.976000	0.34144	0.999000	0.59377	0.465000	0.32709	2.881000	0.48538	2.641000	0.89580	0.591000	0.81541	CGC	CASKIN2	-	NULL		0.667	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	G	NM_020753		73497691	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	missense	SNP	0.999	A
CELP	1057	genome.wustl.edu	37	9	135960308	135960308	+	RNA	SNP	C	C	T	rs202223575	byFrequency	TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr9:135960308C>T	ENST00000411440.2	+	0	357					NR_001275.2				carboxyl ester lipase pseudogene																		ATGTCTACACCGAGTCCTGGG	0.557													T|||	884	0.176518	0.118	0.2334	5008	,	,		19683	0.2698		0.0855	False		,,,				2504	0.2127																0																																												1057			L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135960308C>T				RNA	SNP	-	NULL	ENST00000411440.2	37	NULL		9																																																																																			CELP	-	-		0.557	CELP-002	KNOWN	basic	processed_transcript	CELP	HGNC	pseudogene	OTTHUMT00000339837.1	C	NM_001808		135960308	+1	no_errors	ENST00000411440	ensembl	human	known	70_37	rna	SNP	0.001	T
CHERP	10523	genome.wustl.edu	37	19	16636365	16636365	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr19:16636365C>T	ENST00000198939.6	-	10	1498	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Missense_Mutation_p.D477N|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CAGGGCGCGTCGCGCTGGCCG	0.741																																																	0													4.0	6.0	5.0					19																	16636365		1666	3526	5192	SO:0001583	missense	10523			U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1462G>A	19.37:g.16636365C>T	ENSP00000198939:p.Asp488Asn			Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.D477N	ENST00000198939.6	37	c.1429		19	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502437	0.44455	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.27104	1.7;1.69	4.99	4.99	0.66335	.	.	.	.	.	T	0.19886	0.0478	L	0.29908	0.895	0.40434	D	0.979974	B	0.33857	0.429	B	0.24269	0.052	T	0.06807	-1.0806	9	0.56958	D	0.05	-14.9372	17.2681	0.87093	0.0:1.0:0.0:0.0	.	477	Q8IWX8	CHERP_HUMAN	N	477;488	ENSP00000439856:D477N;ENSP00000198939:D488N	ENSP00000198939:D488N	D	-	1	0	CHERP	16497365	1.000000	0.71417	0.092000	0.20876	0.343000	0.28985	6.279000	0.72620	2.314000	0.78098	0.549000	0.68633	GAC	CHERP	-	NULL		0.741	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000403372.1	C	NM_006387		16636365	-1	no_errors	ENST00000546361	ensembl	human	known	70_37	missense	SNP	0.854	T
CNKSR2	22866	genome.wustl.edu	37	X	21581385	21581385	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chrX:21581385G>C	ENST00000379510.3	+	13	1459	c.1423G>C	c.(1423-1425)Gaa>Caa	p.E475Q	CNKSR2_ENST00000543067.1_Missense_Mutation_p.E426Q|AL928874.1_ENST00000579338.1_RNA|CNKSR2_ENST00000279451.4_Missense_Mutation_p.E475Q|CNKSR2_ENST00000425654.2_Missense_Mutation_p.E445Q|CNKSR2_ENST00000485012.1_3'UTR	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	475	DUF1170.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TATGAGCAATGAAAAGATTGC	0.328																																																	0													66.0	63.0	64.0					X																	21581385		2202	4298	6500	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1423G>C	X.37:g.21581385G>C	ENSP00000368824:p.Glu475Gln		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.E475Q	ENST00000379510.3	37	c.1423	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706313	0.89018	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.28895	2.19;1.59;1.8;2.12	5.88	5.88	0.94601	Connector enhancer of kinase suppressor of ras 2 (1);	0.051805	0.85682	D	0.000000	T	0.45796	0.1360	L	0.49778	1.585	0.49483	D	0.999799	P;P;D;P	0.53151	0.754;0.924;0.958;0.876	B;P;P;P	0.54174	0.403;0.588;0.744;0.653	T	0.35599	-0.9782	10	0.66056	D	0.02	3.8276	19.1445	0.93459	0.0:0.0:1.0:0.0	.	445;426;67;475	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	Q	445;426;475;475	ENSP00000397906:E445Q;ENSP00000444633:E426Q;ENSP00000279451:E475Q;ENSP00000368824:E475Q	ENSP00000279451:E475Q	E	+	1	0	CNKSR2	21491306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.842000	0.86851	2.471000	0.83476	0.600000	0.82982	GAA	CNKSR2	-	pfam_CNKSR2		0.328	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	G	NM_014927		21581385	+1	no_errors	ENST00000379510	ensembl	human	known	70_37	missense	SNP	1.000	C
CYP21A2	1589	genome.wustl.edu	37	6	32006938	32006938	+	Silent	SNP	C	C	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr6:32006938C>T	ENST00000418967.2	+	3	518	c.360C>T	c.(358-360)caC>caT	p.H120H	C4B-AS1_ENST00000415626.1_RNA|CYP21A2_ENST00000435122.2_Silent_p.H90H	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	119					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	GGAAAGCCCACAAGAAGCTCA	0.617																																					Melanoma(174;1669 1998 3915 34700 46447)												0													38.0	34.0	36.0					6																	32006938		2202	4300	6502	SO:0001819	synonymous_variant	1589			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.360C>T	6.37:g.32006938C>T			A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.H120	ENST00000418967.2	37	c.360	CCDS4735.1	6																																																																																			CYP21A2	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.617	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	HGNC	protein_coding	OTTHUMT00000268768.2	C	NM_000500		32006938	+1	no_errors	ENST00000418967	ensembl	human	known	70_37	silent	SNP	0.986	T
DAP3	7818	genome.wustl.edu	37	1	155658795	155658795	+	5'Flank	SNP	G	G	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:155658795G>T	ENST00000368336.5	+	0	0				DAP3_ENST00000471642.2_Intron|YY1AP1_ENST00000347088.5_5'Flank|YY1AP1_ENST00000438245.2_5'Flank|YY1AP1_ENST00000368330.2_5'Flank|YY1AP1_ENST00000359205.5_5'Flank|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000476093.1_5'Flank|YY1AP1_ENST00000295566.4_5'Flank|YY1AP1_ENST00000407221.1_5'Flank|DAP3_ENST00000421487.2_5'Flank|YY1AP1_ENST00000355499.4_5'Flank|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_5'Flank|YY1AP1_ENST00000405763.3_5'Flank|YY1AP1_ENST00000368339.5_5'Flank|DAP3_ENST00000535183.1_5'Flank|YY1AP1_ENST00000311573.5_5'Flank|YY1AP1_ENST00000361831.5_5'Flank|DAP3_ENST00000465375.1_5'Flank|YY1AP1_ENST00000404643.1_5'Flank|YY1AP1_ENST00000368340.5_5'Flank	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3						apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ATCGAGGGCGGCCTAGCGCCC	0.711																																																	0													12.0	12.0	12.0					1																	155658795		2188	4274	6462	SO:0001631	upstream_gene_variant	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439		1.37:g.155658795G>T	Exception_encountered		B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	RNA	SNP	-	NULL	ENST00000368336.5	37	NULL	CCDS1120.1	1																																																																																			DAP3	-	-		0.711	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	G	NM_004632		155658795	+1	no_errors	ENST00000461479	ensembl	human	known	70_37	rna	SNP	0.000	T
DLC1	10395	genome.wustl.edu	37	8	12943867	12943867	+	Silent	SNP	G	G	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr8:12943867G>T	ENST00000276297.4	-	17	4807	c.4398C>A	c.(4396-4398)tcC>tcA	p.S1466S	DLC1_ENST00000520226.1_Silent_p.S955S|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.S1029S|DLC1_ENST00000512044.2_Silent_p.S1063S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1466	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCAAATACCTGGACAAGAGCA	0.458																																																	0													135.0	128.0	130.0					8																	12943867		2203	4300	6503	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4398C>A	8.37:g.12943867G>T			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.S1466	ENST00000276297.4	37	c.4398	CCDS5989.1	8																																																																																			DLC1	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.458	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		12943867	-1	no_errors	ENST00000276297	ensembl	human	known	70_37	silent	SNP	0.997	T
DZIP1L	199221	genome.wustl.edu	37	3	137787115	137787115	+	Silent	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr3:137787115G>A	ENST00000327532.2	-	13	2072	c.1710C>T	c.(1708-1710)ccC>ccT	p.P570P	DZIP1L_ENST00000488595.1_5'Flank	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	570					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GAGTTGGTGGGGGTGGCTCTG	0.662																																																	0													58.0	67.0	64.0					3																	137787115		2203	4300	6503	SO:0001819	synonymous_variant	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1710C>T	3.37:g.137787115G>A			C9JUG5|Q96M38	Silent	SNP	pfscan_Znf_C2H2	p.P570	ENST00000327532.2	37	c.1710	CCDS3096.1	3																																																																																			DZIP1L	-	NULL		0.662	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	G	NM_173543		137787115	-1	no_errors	ENST00000327532	ensembl	human	known	70_37	silent	SNP	0.000	A
ELAVL4	1996	genome.wustl.edu	37	1	50661260	50661260	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:50661260G>A	ENST00000371823.4	+	5	760	c.536G>A	c.(535-537)cGc>cAc	p.R179H	ELAVL4_ENST00000371827.1_Missense_Mutation_p.R179H|ELAVL4_ENST00000371819.1_Missense_Mutation_p.R184H|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R196H|ELAVL4_ENST00000371824.1_Missense_Mutation_p.R179H|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R184H|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R182H	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	179	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGATTCATCCGCTTTGATAAG	0.493																																																	0													96.0	99.0	98.0					1																	50661260		2203	4300	6503	SO:0001583	missense	1996			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.536G>A	1.37:g.50661260G>A	ENSP00000360888:p.Arg179His		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.R184H	ENST00000371823.4	37	c.551	CCDS553.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.573234	0.96553	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	L	0.42529	1.33	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.997;0.999;0.996;1.0;0.995;0.99;0.992	P;D;P;D;P;P;P	0.76575	0.841;0.963;0.64;0.988;0.717;0.655;0.767	T	0.00516	-1.1694	10	0.30854	T	0.27	.	20.2087	0.98285	0.0:0.0:1.0:0.0	.	184;184;179;179;196;179;182	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	H	182;179;196;179;179;184;184	ENSP00000399939:R182H;ENSP00000360892:R179H;ENSP00000349594:R196H;ENSP00000360889:R179H;ENSP00000360888:R179H;ENSP00000360886:R184H;ENSP00000360884:R184H	ENSP00000349594:R196H	R	+	2	0	ELAVL4	50433847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.791000	0.96007	0.655000	0.94253	CGC	ELAVL4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF		0.493	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	ELAVL4	HGNC	protein_coding	OTTHUMT00000021712.1	G	NM_021952		50661260	+1	no_errors	ENST00000371821	ensembl	human	known	70_37	missense	SNP	1.000	A
LOC148709	148709	genome.wustl.edu	37	1	202828216	202828216	+	lincRNA	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:202828216G>A	ENST00000456105.2	+	0	0				RP11-480I12.5_ENST00000443294.1_RNA	NR_002929.2																						CCACATGGATGGAGATGCACT	0.597																																																	0																																												0																															1.37:g.202828216G>A				RNA	SNP	-	NULL	ENST00000456105.2	37	NULL		1																																																																																			RP11-480I12.5	-	-		0.597	RP11-480I12.7-001	KNOWN	basic	lincRNA	ENSG00000214796	Clone_based_vega_gene	lincRNA	OTTHUMT00000099158.2	G			202828216	-1	no_errors	ENST00000430114	ensembl	human	known	70_37	rna	SNP	0.998	A
ESRP1	54845	genome.wustl.edu	37	8	95677406	95677406	+	Missense_Mutation	SNP	T	T	G			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr8:95677406T>G	ENST00000433389.2	+	9	1103	c.913T>G	c.(913-915)Ttc>Gtc	p.F305V	ESRP1_ENST00000423620.2_Missense_Mutation_p.F305V|ESRP1_ENST00000454170.2_Missense_Mutation_p.F305V|ESRP1_ENST00000358397.5_Missense_Mutation_p.F305V	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	305					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGGTGAAGATTTCCTTAAAAT	0.358																																																	0													88.0	85.0	86.0					8																	95677406		1845	4101	5946	SO:0001583	missense	54845			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.913T>G	8.37:g.95677406T>G	ENSP00000405738:p.Phe305Val		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.F305V	ENST00000433389.2	37	c.913	CCDS47897.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.2|26.2	4.717053|4.717053	0.89205|0.89205	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000522756;ENST00000517610	.|T;T;T;T;T;T	.|0.28454	.|1.61;3.43;3.43;1.61;1.61;3.43	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.53546|0.53546	0.1803|0.1803	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.985;0.999;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.999;0.999;0.943;0.987;0.998;0.999	T|T	0.57130|0.57130	-0.7864|-0.7864	6|10	.|0.87932	.|D	.|0	-8.3861|-8.3861	15.3306|15.3306	0.74208|0.74208	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|305;305;305;305;305;305	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	C|V	170|305;305;305;305;88;164	.|ENSP00000407349:F305V;ENSP00000405738:F305V;ENSP00000351168:F305V;ENSP00000402766:F305V;ENSP00000428490:F88V;ENSP00000429125:F164V	.|ENSP00000351168:F305V	F|F	+|+	2|1	0|0	ESRP1|ESRP1	95746582|95746582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	8.040000|8.040000	0.89188|0.89188	2.022000|2.022000	0.59522|0.59522	0.460000|0.460000	0.39030|0.39030	TTT|TTC	ESRP1	-	NULL		0.358	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1	T	NM_017697		95677406	+1	no_errors	ENST00000433389	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM98C	147965	genome.wustl.edu	37	19	38897559	38897559	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr19:38897559G>A	ENST00000252530.5	+	7	779	c.760G>A	c.(760-762)Gag>Aag	p.E254K	FAM98C_ENST00000588262.1_Missense_Mutation_p.R120K|FAM98C_ENST00000343358.7_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	254										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCCAAGGAGAGGCCATGAG	0.567																																																	0													74.0	78.0	77.0					19																	38897559		2009	4173	6182	SO:0001583	missense	147965				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.760G>A	19.37:g.38897559G>A	ENSP00000252530:p.Glu254Lys		A6NMW3|Q66K45	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.E254K	ENST00000252530.5	37	c.760	CCDS42562.1	19	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395969	0.42512	.	.	ENSG00000130244	ENST00000252530	T	0.45276	0.9	4.9	-2.47	0.06442	.	1.093510	0.07173	N	0.852751	T	0.38904	0.1058	M	0.63428	1.95	0.21064	N	0.999799	B	0.14012	0.009	B	0.17433	0.018	T	0.43766	-0.9371	10	0.41790	T	0.15	-23.5239	9.5662	0.39400	0.4885:0.0:0.5115:0.0	.	254	Q17RN3	FA98C_HUMAN	K	254	ENSP00000252530:E254K	ENSP00000252530:E254K	E	+	1	0	FAM98C	43589399	0.182000	0.23173	0.741000	0.31004	0.948000	0.59901	0.333000	0.19768	-0.323000	0.08602	-0.142000	0.14014	GAG	FAM98C	-	pfam_Uncharacterised_FAM98		0.567	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1	G	NM_174905		38897559	+1	no_errors	ENST00000252530	ensembl	human	known	70_37	missense	SNP	0.208	A
GPX7	2882	genome.wustl.edu	37	1	53072514	53072514	+	Silent	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:53072514G>A	ENST00000361314.4	+	2	335	c.297G>A	c.(295-297)gaG>gaA	p.E99E	GPX7_ENST00000459779.1_3'UTR	NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	99					response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	GCAACAAGGAGATTGAGAGCT	0.582																																																	0													142.0	132.0	135.0					1																	53072514		2203	4300	6503	SO:0001819	synonymous_variant	2882			AF091092	CCDS569.1	1p32	2008-02-05			ENSG00000116157	ENSG00000116157			4559	protein-coding gene	gene with protein product		615784				15294905	Standard	NM_015696		Approved	FLJ14777, GPX6, NPGPx	uc001cue.3	Q96SL4	OTTHUMG00000008322	ENST00000361314.4:c.297G>A	1.37:g.53072514G>A			O95337|Q5T501	Silent	SNP	pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7	p.E99	ENST00000361314.4	37	c.297	CCDS569.1	1																																																																																			GPX7	-	pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7		0.582	GPX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX7	HGNC	protein_coding	OTTHUMT00000022913.1	G	NM_015696		53072514	+1	no_errors	ENST00000361314	ensembl	human	known	70_37	silent	SNP	1.000	A
GABPB2	126626	genome.wustl.edu	37	1	151076068	151076068	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:151076068C>G	ENST00000368918.3	+	6	984	c.653C>G	c.(652-654)tCa>tGa	p.S218*	GABPB2_ENST00000368916.1_Intron|GABPB2_ENST00000368917.1_Intron|GABPB2_ENST00000467551.1_Intron	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	218					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GTACAGTTTTCAAATTCTACC	0.453																																																	0													115.0	106.0	109.0					1																	151076068		2203	4300	6503	SO:0001587	stop_gained	126626				CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.653C>G	1.37:g.151076068C>G	ENSP00000357914:p.Ser218*		B1AVJ8|D3DV14|Q8NAR5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S218*	ENST00000368918.3	37	c.653	CCDS983.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.416734	0.97550	.	.	ENSG00000143458	ENST00000368918;ENST00000446567	.	.	.	5.13	5.13	0.70059	.	0.908093	0.09217	N	0.832463	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-14.3363	13.9417	0.64059	0.0:1.0:0.0:0.0	.	.	.	.	X	218;234	.	ENSP00000357914:S218X	S	+	2	0	GABPB2	149342692	0.994000	0.37717	1.000000	0.80357	0.958000	0.62258	0.743000	0.26231	2.659000	0.90383	0.543000	0.68304	TCA	GABPB2	-	NULL		0.453	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABPB2	HGNC	protein_coding	OTTHUMT00000033700.2	C	NM_144618		151076068	+1	no_errors	ENST00000368918	ensembl	human	known	70_37	nonsense	SNP	1.000	G
HERC2	8924	genome.wustl.edu	37	15	28463704	28463704	+	Missense_Mutation	SNP	T	T	G			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr15:28463704T>G	ENST00000261609.7	-	38	6067	c.5959A>C	c.(5959-5961)Agc>Cgc	p.S1987R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGGCTTCGCTCTGCATGATC	0.488																																																	0													132.0	141.0	138.0					15																	28463704		1399	2382	3781	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5959A>C	15.37:g.28463704T>G	ENSP00000261609:p.Ser1987Arg			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.S1987R	ENST00000261609.7	37	c.5959	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	7.084	0.570814	0.13623	.	.	ENSG00000128731	ENST00000261609	T	0.37411	1.2	4.4	2.0	0.26442	.	0.595355	0.17661	N	0.166304	T	0.19366	0.0465	N	0.25647	0.755	0.28577	N	0.910348	B	0.19583	0.037	B	0.18871	0.023	T	0.21621	-1.0240	10	0.14656	T	0.56	.	4.4616	0.11669	0.1434:0.1595:0.0:0.6971	.	1987	O95714	HERC2_HUMAN	R	1987	ENSP00000261609:S1987R	ENSP00000261609:S1987R	S	-	1	0	HERC2	26137299	0.993000	0.37304	0.724000	0.30704	0.745000	0.42441	1.834000	0.39171	0.296000	0.22592	0.528000	0.53228	AGC	HERC2	-	NULL		0.488	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	T	NM_004667		28463704	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	0.311	G
ITGA10	8515	genome.wustl.edu	37	1	145534935	145534935	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:145534935G>A	ENST00000369304.3	+	15	2013	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	ITGA10_ENST00000538811.1_Missense_Mutation_p.R482Q|ITGA10_ENST00000539363.1_Missense_Mutation_p.R470Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	613					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.R613Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACTTTGGCCGAAGTGTGGAT	0.577																																																	1	Substitution - Missense(1)	prostate(1)											181.0	151.0	161.0					1																	145534935		2203	4300	6503	SO:0001583	missense	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1838G>A	1.37:g.145534935G>A	ENSP00000358310:p.Arg613Gln		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R613Q	ENST00000369304.3	37	c.1838	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916809	0.52546	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.55588	0.51;0.51;0.51	5.07	4.15	0.48705	.	0.085098	0.45361	D	0.000373	T	0.18467	0.0443	N	0.13140	0.3	0.58432	D	0.999999	B;B;D;B	0.54047	0.421;0.132;0.964;0.072	B;B;P;B	0.44623	0.126;0.043;0.455;0.027	T	0.05920	-1.0856	10	0.07482	T	0.82	.	10.8941	0.47012	0.0923:0.0:0.9077:0.0	.	579;482;470;613	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Q	613;579;470;482	ENSP00000358310:R613Q;ENSP00000439894:R470Q;ENSP00000440011:R482Q	ENSP00000358310:R613Q	R	+	2	0	ITGA10	144246292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.772000	0.68889	2.542000	0.85734	0.609000	0.83330	CGA	ITGA10	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.577	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	G	NM_003637		145534935	+1	no_errors	ENST00000369304	ensembl	human	known	70_37	missense	SNP	1.000	A
HRNR	388697	genome.wustl.edu	37	1	152186614	152186614	+	Silent	SNP	C	C	G			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:152186614C>G	ENST00000368801.2	-	3	7566	c.7491G>C	c.(7489-7491)tcG>tcC	p.S2497S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2497					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.557																																																	0													1.0	1.0	1.0					1																	152186614		84	271	355	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7491G>C	1.37:g.152186614C>G			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S2497	ENST00000368801.2	37	c.7491	CCDS30859.1	1																																																																																			HRNR	-	NULL		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152186614	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	silent	SNP	0.000	G
KAT2A	2648	genome.wustl.edu	37	17	40266039	40266039	+	Missense_Mutation	SNP	C	C	T	rs373255391		TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr17:40266039C>T	ENST00000225916.5	-	17	2352	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	767	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CGGATGACCTCGTAGTAGTCA	0.637																																																	0								C	LYS/GLU	0,4340		0,0,2170	69.0	71.0	70.0		2299	4.8	1.0	17		70	1,8467		0,1,4233	no	missense	KAT2A	NM_021078.2	56	0,1,6403	TT,TC,CC		0.0118,0.0,0.0078	benign	767/838	40266039	1,12807	2170	4234	6404	SO:0001583	missense	2648			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2299G>A	17.37:g.40266039C>T	ENSP00000225916:p.Glu767Lys		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.E767K	ENST00000225916.5	37	c.2299	CCDS11417.1	17	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451763	0.84209	0.0	1.18E-4	ENSG00000108773	ENST00000225916	T	0.28895	1.59	4.79	4.79	0.61399	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	L	0.35341	1.055	0.80722	D	1	B	0.31989	0.35	B	0.31812	0.136	T	0.14811	-1.0459	10	0.72032	D	0.01	-16.8948	17.8406	0.88714	0.0:1.0:0.0:0.0	.	767	Q92830	KAT2A_HUMAN	K	767	ENSP00000225916:E767K	ENSP00000225916:E767K	E	-	1	0	KAT2A	37519565	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.902000	0.69869	2.212000	0.71576	0.491000	0.48974	GAG	KAT2A	-	pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain		0.637	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	HGNC	protein_coding	OTTHUMT00000257458.1	C	NM_021078		40266039	-1	no_errors	ENST00000225916	ensembl	human	known	70_37	missense	SNP	1.000	T
LINC00623	728855	genome.wustl.edu	37	1	149581234	149581235	+	RNA	INS	-	-	T	rs368537587		TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:149581234_149581235insT	ENST00000598569.1	+	0	711_712																											GAGACCTCACATTTTTTTCACC	0.262																																																	0																																												728855																															1.37:g.149581241_149581241dupT				RNA	INS	-	NULL	ENST00000598569.1	37	NULL		1																																																																																			RP11-353N4.6	-	-		0.262	RP11-353N4.6-002	KNOWN	basic	processed_transcript	LINC00623	Clone_based_vega_gene	pseudogene	OTTHUMT00000462966.1	-			149581235	+1	no_errors	ENST00000598569	ensembl	human	known	70_37	rna	INS	0.000:0.005	T
MDS2	259283	genome.wustl.edu	37	1	23966894	23966895	+	In_Frame_Ins	INS	-	-	AAG	rs371268033|rs3072132|rs5773050	byFrequency	TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:23966894_23966895insAAG	ENST00000374555.3	+	7	865_866	c.278_279insAAG	c.(277-282)gtaaga>gtAAGaaga	p.95_96insR	MDS2_ENST00000477916.1_3'UTR			Q8NDY4	MDS2_HUMAN	myelodysplastic syndrome 2 translocation associated	95						extracellular space (GO:0005615)				breast(1)|ovary(2)	3						Ggtggctttgtaagaagaaaag	0.45			T	ETV6	MDS									1386	0.276757	0.0832	0.4006	5008	,	,		20101	0.4306		0.2505	False		,,,				2504	0.319							Dom	yes		1	1p36	259283	myelodysplastic syndrome 2		L	0																																										SO:0001652	inframe_insertion	259283			AJ310434		1p36	2008-02-05			ENSG00000197880	ENSG00000197880			29633	protein-coding gene	gene with protein product		607305				12203785	Standard	NR_027042		Approved		uc001bhi.3	Q8NDY4	OTTHUMG00000002927	ENST00000374555.3:c.282_284dupAAG	1.37:g.23966898_23966900dupAAG	ENSP00000363683:p.Arg95_Arg95dup			In_Frame_Ins	INS	NULL	p.96in_frame_insR	ENST00000374555.3	37	c.278_279		1																																																																																			MDS2	-	NULL		0.450	MDS2-001	KNOWN	basic|appris_principal	protein_coding	MDS2	HGNC	protein_coding	OTTHUMT00000008172.1	-	NM_148895		23966895	+1	no_errors	ENST00000374555	ensembl	human	known	70_37	in_frame_ins	INS	0.391:0.362	AAG
MACF1	23499	genome.wustl.edu	37	1	39789874	39789874	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr1:39789874G>A	ENST00000372915.3	+	33	4348	c.4261G>A	c.(4261-4263)Gaa>Aaa	p.E1421K	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.E1421K|MACF1_ENST00000317713.7_Missense_Mutation_p.E1421K|MACF1_ENST00000567887.1_Missense_Mutation_p.E1453K|MACF1_ENST00000564288.1_Missense_Mutation_p.E1416K|MACF1_ENST00000545844.1_Missense_Mutation_p.E1421K|MACF1_ENST00000539005.1_Missense_Mutation_p.E1421K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1421					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAAGTGGTAGAAGAGGAGAA	0.393																																																	0													80.0	78.0	79.0					1																	39789874		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4261G>A	1.37:g.39789874G>A	ENSP00000362006:p.Glu1421Lys		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E1421K	ENST00000372915.3	37	c.4261		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.968806|3.968806	0.74131|0.74131	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262|ENST00000372925	T;T;T;T;T;T|.	0.65732|.	-0.11;-0.17;-0.11;-0.16;0.04;2.02|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|.	.|.	.|.	.|.	T|T	0.76292|0.76292	0.3967|0.3967	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;B|.	0.62365|.	0.991;0.971;0.02|.	D;P;B|.	0.65874|.	0.939;0.717;0.03|.	T|T	0.71879|0.71879	-0.4459|-0.4459	9|5	0.25751|.	T|.	0.34|.	.|.	20.4549|20.4549	0.99139|0.99139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1421;1421;1386|.	F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	.;.;.|.	K|K	1421;1421;1421;1421;1421;1570|554	ENSP00000439537:E1421K;ENSP00000362006:E1421K;ENSP00000354573:E1421K;ENSP00000313438:E1421K;ENSP00000444364:E1421K;ENSP00000437059:E1570K|.	ENSP00000313438:E1421K|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39562461|39562461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	8.608000|8.608000	0.90895|0.90895	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|AGA	MACF1	-	NULL		0.393	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39789874	+1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	A
MUC2	4583	genome.wustl.edu	37	11	1079662	1079662	+	Silent	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr11:1079662G>A	ENST00000441003.2	+	7	906	c.879G>A	c.(877-879)aaG>aaA	p.K293K	MUC2_ENST00000359061.5_Silent_p.K293K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	293					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TTCCAGCCAAGACCTGCCCCG	0.677																																																	0													19.0	25.0	23.0					11																	1079662		2116	4221	6337	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.879G>A	11.37:g.1079662G>A			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.K293	ENST00000441003.2	37	c.879		11																																																																																			MUC2	-	superfamily_TIL_dom		0.677	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	G	NM_002457		1079662	+1	no_errors	ENST00000441003	ensembl	human	known	70_37	silent	SNP	0.810	A
NBEAL2	23218	genome.wustl.edu	37	3	47049909	47049909	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr3:47049909C>T	ENST00000450053.3	+	51	8035	c.7856C>T	c.(7855-7857)gCg>gTg	p.A2619V	NBEAL2_ENST00000383740.2_Missense_Mutation_p.A868V|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2435V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2619					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGAGCTCAGCGTGGGAACGT	0.602																																																	0													47.0	47.0	47.0					3																	47049909		2068	4188	6256	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7856C>T	3.37:g.47049909C>T	ENSP00000415034:p.Ala2619Val		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2619V	ENST00000450053.3	37	c.7856	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.30|11.30	1.597770|1.597770	0.28445|0.28445	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000416683	T;T;T|.	0.17370|.	2.28;2.28;2.28|.	5.15|5.15	5.15|5.15	0.70609|0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.460865|.	0.24147|.	N|.	0.041114|.	T|T	0.45357|0.45357	0.1338|0.1338	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999999|0.999999	P;B|.	0.34837|.	0.472;0.024|.	B;B|.	0.28991|.	0.097;0.004|.	T|T	0.34104|0.34104	-0.9842|-0.9842	10|5	0.19590|.	T|.	0.45|.	.|.	13.9938|13.9938	0.64382|0.64382	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2435;2619|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	V|C	2435;868;2619;562|1907	ENSP00000292309:A2435V;ENSP00000373246:A868V;ENSP00000415034:A2619V|.	ENSP00000292309:A2435V|.	A|R	+|+	2|1	0|0	NBEAL2|NBEAL2	47024913|47024913	0.083000|0.083000	0.21467|0.21467	0.771000|0.771000	0.31576|0.31576	0.979000|0.979000	0.70002|0.70002	1.313000|1.313000	0.33585|0.33585	2.669000|2.669000	0.90835|0.90835	0.561000|0.561000	0.74099|0.74099	GCG|CGT	NBEAL2	-	superfamily_WD40_repeat_dom		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	C	XM_291064		47049909	+1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	0.147	T
NDUFAF3	25915	genome.wustl.edu	37	3	49059635	49059635	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr3:49059635C>T	ENST00000326925.6	+	1	1192	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S	NDUFAF3_ENST00000451378.2_Intron|DALRD3_ENST00000313778.5_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000326912.4_Intron|MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000395458.2_Intron	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	20					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GCTGCGCTGTCCGCCCGTTGA	0.706											OREG0015566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													30.0	29.0	29.0					3																	49059635		2203	4298	6501	SO:0001583	missense	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.58C>T	3.37:g.49059635C>T	ENSP00000323076:p.Pro20Ser	959		Missense_Mutation	SNP	pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3	p.P20S	ENST00000326925.6	37	c.58	CCDS2784.1	3	.	.	.	.	.	.	.	.	.	.	C	9.782	1.175504	0.21704	.	.	ENSG00000178057	ENST00000326925	D	0.88046	-2.33	3.8	0.9	0.19278	.	0.873760	0.09876	N	0.744308	T	0.73032	0.3535	N	0.19112	0.55	0.09310	N	0.999994	B	0.06786	0.001	B	0.01281	0.0	T	0.54616	-0.8267	10	0.06891	T	0.86	-4.3987	7.3546	0.26711	0.0:0.5818:0.3223:0.0958	.	20	Q9BU61	NDUF3_HUMAN	S	20	ENSP00000323076:P20S	ENSP00000323076:P20S	P	+	1	0	NDUFAF3	49034639	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.053000	0.14184	0.169000	0.19679	0.655000	0.94253	CCG	NDUFAF3	-	NULL		0.706	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF3	HGNC	protein_coding	OTTHUMT00000345683.2	C	NM_199069		49059635	+1	no_errors	ENST00000326925	ensembl	human	known	70_37	missense	SNP	0.000	T
NRXN2	9379	genome.wustl.edu	37	11	64421184	64421184	+	Silent	SNP	G	G	A	rs371387618		TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr11:64421184G>A	ENST00000377551.1	-	11	2611	c.2400C>T	c.(2398-2400)cgC>cgT	p.R800R	NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Silent_p.R793R|NRXN2_ENST00000265459.6_Silent_p.R800R|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	800	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGCAGCCGACGCGCAGGCAGT	0.577																																																	0								G	,	0,4356		0,0,2178	9.0	12.0	11.0		2400,	2.8	1.0	11		11	2,8530		0,2,4264	no	coding-synonymous,intron	NRXN2	NM_015080.3,NM_138732.2	,	0,2,6442	AA,AG,GG		0.0234,0.0,0.0155	,	800/1713,	64421184	2,12886	2178	4266	6444	SO:0001819	synonymous_variant	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2400C>T	11.37:g.64421184G>A			A7E2C1|Q9Y2D6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R800	ENST00000377551.1	37	c.2400	CCDS8077.1	11																																																																																			NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.577	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	G	NM_015080		64421184	-1	no_errors	ENST00000265459	ensembl	human	known	70_37	silent	SNP	1.000	A
NEAT1	283131	genome.wustl.edu	37	11	65211894	65211894	+	lincRNA	SNP	C	C	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr11:65211894C>T	ENST00000384994.1	+	0	0					NR_030343.1				nuclear paraspeckle assembly transcript 1 (non-protein coding)																		catgtgtgtccctgagcaggt	0.567																																																	0													36.0	31.0	32.0					11																	65211894		1400	3224	4624			283131			AF080092		11q13.1	2013-11-01	2009-07-24	2009-07-24	ENSG00000245532	ENSG00000245532		"""Long non-coding RNAs"", ""-"""	30815	non-coding RNA	RNA, long non-coding	"""trophoblast derived non-protein coding RNA"", ""nuclear enriched abundant transcript 1"", ""long intergenic non-protein coding RNA 84"", ""virus inducible non-coding RNA"""	612769	"""non-protein coding RNA 84"""	NCRNA00084		9253601, 9858482, 12565840	Standard	NR_028272		Approved	TncRNA, MENepsilon/beta, LINC00084, VINC	uc010rog.2		OTTHUMG00000166321		11.37:g.65211894C>T				RNA	SNP	-	NULL	ENST00000384994.1	37	NULL		11																																																																																			NEAT1	-	-		0.567	NEAT1-201	KNOWN	basic	miRNA	NEAT1	HGNC	lincRNA		C	NR_028272		65211894	+1	no_errors	ENST00000501122	ensembl	human	known	70_37	rna	SNP	0.002	T
NT5E	4907	genome.wustl.edu	37	6	86199239	86199239	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr6:86199239G>A	ENST00000257770.3	+	6	1181	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	NT5E_ENST00000369651.3_Missense_Mutation_p.E378K	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	378					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	ACACACGGATGAAATGTTCTG	0.473																																					Melanoma(140;797 1765 2035 2752 18208)												0													140.0	118.0	126.0					6																	86199239		2203	4300	6503	SO:0001583	missense	4907			X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1132G>A	6.37:g.86199239G>A	ENSP00000257770:p.Glu378Lys		B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	pfam_5'-Nucleotdase_C,pfam_Metallo_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase	p.E378K	ENST00000257770.3	37	c.1132	CCDS5002.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.62|11.62	1.692340|1.692340	0.30052|0.30052	.|.	.|.	ENSG00000135318|ENSG00000135318	ENST00000369647;ENST00000257770;ENST00000369651|ENST00000416334;ENST00000437581	T;T|.	0.55234|.	0.56;0.53|.	5.21|5.21	5.21|5.21	0.72293|0.72293	5&apos (3);-Nucleotidase, C-terminal (3);|.	0.322765|.	0.36740|.	N|.	0.002426|.	T|T	0.42653|0.42653	0.1212|0.1212	L|L	0.35249|0.35249	1.045|1.045	0.41102|0.41102	D|D	0.985674|0.985674	B;B|.	0.19445|.	0.036;0.02|.	B;B|.	0.26310|.	0.068;0.068|.	T|T	0.35325|0.35325	-0.9793|-0.9793	10|5	0.30078|.	T|.	0.28|.	-18.4886|-18.4886	12.6015|12.6015	0.56499|0.56499	0.0867:0.0:0.9133:0.0|0.0867:0.0:0.9133:0.0	.|.	378;378|.	B3KQI8;P21589|.	.;5NTD_HUMAN|.	K|I	154;378;378|142;73	ENSP00000257770:E378K;ENSP00000358665:E378K|.	ENSP00000257770:E378K|.	E|M	+|+	1|3	0|0	NT5E|NT5E	86255958|86255958	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.559000|0.559000	0.35586|0.35586	3.233000|3.233000	0.51311|0.51311	2.441000|2.441000	0.82636|0.82636	0.462000|0.462000	0.41574|0.41574	GAA|ATG	NT5E	-	pfam_5'-Nucleotdase_C,superfamily_5'-Nucleotdase_C		0.473	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5E	HGNC	protein_coding	OTTHUMT00000041388.1	G			86199239	+1	no_errors	ENST00000257770	ensembl	human	known	70_37	missense	SNP	0.991	A
OFD1	8481	genome.wustl.edu	37	X	13775835	13775835	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chrX:13775835G>A	ENST00000340096.6	+	14	1795	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Missense_Mutation_p.E350K|OFD1_ENST00000380550.3_Missense_Mutation_p.E450K	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	490					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACGGAAAGCCGAAAAGGCTAT	0.438																																																	0													83.0	75.0	78.0					X																	13775835		2203	4300	6503	SO:0001583	missense	8481			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1468G>A	X.37:g.13775835G>A	ENSP00000344314:p.Glu490Lys		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.E490K	ENST00000340096.6	37	c.1468	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	.	16.13	3.035800	0.54896	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D	0.96856	-2.21;-4.15;-1.87	5.16	5.16	0.70880	.	0.167784	0.52532	D	0.000072	D	0.97374	0.9141	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.984;0.978;0.999;0.991;0.984	D	0.96781	0.9575	10	0.33141	T	0.24	-20.7613	15.2475	0.73517	0.0:0.0:1.0:0.0	.	490;450;158;350;490	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	K	450;490;350;313	ENSP00000369923:E450K;ENSP00000344314:E490K;ENSP00000369941:E350K	ENSP00000344314:E490K	E	+	1	0	OFD1	13685756	1.000000	0.71417	0.100000	0.21137	0.006000	0.05464	3.479000	0.53165	2.279000	0.76181	0.544000	0.68410	GAA	OFD1	-	superfamily_Lipoprotein_6		0.438	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	G	NM_003611		13775835	+1	no_errors	ENST00000340096	ensembl	human	known	70_37	missense	SNP	0.801	A
OR4S1	256148	genome.wustl.edu	37	11	48327879	48327879	+	Silent	SNP	C	C	G			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr11:48327879C>G	ENST00000319988.1	+	1	105	c.105C>G	c.(103-105)ctC>ctG	p.L35L		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TTCATGTGCTCACTGTCCTGG	0.443																																																	0													283.0	235.0	251.0					11																	48327879		2201	4288	6489	SO:0001819	synonymous_variant	256148			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.105C>G	11.37:g.48327879C>G			Q6IFB4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L35	ENST00000319988.1	37	c.105	CCDS31488.1	11																																																																																			OR4S1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.443	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	HGNC	protein_coding	OTTHUMT00000390556.1	C	NM_001004725		48327879	+1	no_errors	ENST00000319988	ensembl	human	known	70_37	silent	SNP	0.102	G
OR10AG1	282770	genome.wustl.edu	37	11	55735343	55735343	+	Silent	SNP	C	C	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr11:55735343C>T	ENST00000312345.2	-	1	647	c.597G>A	c.(595-597)acG>acA	p.T199T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T199T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAAATGGCACCGTGATAAACA	0.408																																																	1	Substitution - coding silent(1)	lung(1)											80.0	80.0	80.0					11																	55735343		2201	4296	6497	SO:0001819	synonymous_variant	282770			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.597G>A	11.37:g.55735343C>T			B2RNH4|Q6IEU3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T199	ENST00000312345.2	37	c.597	CCDS31514.1	11																																																																																			OR10AG1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.408	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	HGNC	protein_coding	OTTHUMT00000391531.1	C	NM_001005491		55735343	-1	no_errors	ENST00000312345	ensembl	human	known	70_37	silent	SNP	0.000	T
PCDH12	51294	genome.wustl.edu	37	5	141337076	141337076	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr5:141337076C>T	ENST00000231484.3	-	1	1551	c.341G>A	c.(340-342)gGg>gAg	p.G114E	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	114	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAAATCCCCTGTGGCAAG	0.572																																																	0													98.0	104.0	102.0					5																	141337076		2203	4300	6503	SO:0001583	missense	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.341G>A	5.37:g.141337076C>T	ENSP00000231484:p.Gly114Glu		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G114E	ENST00000231484.3	37	c.341	CCDS4269.1	5	.	.	.	.	.	.	.	.	.	.	C	1.101	-0.661188	0.03454	.	.	ENSG00000113555	ENST00000231484	T	0.52754	0.65	5.08	1.14	0.20703	Cadherin (3);	0.306298	0.36303	N	0.002679	T	0.28134	0.0694	N	0.25647	0.755	0.09310	N	1	B	0.18013	0.025	B	0.20184	0.028	T	0.09662	-1.0664	10	0.35671	T	0.21	.	4.5548	0.12131	0.0:0.4582:0.2708:0.271	.	114	Q9NPG4	PCD12_HUMAN	E	114	ENSP00000231484:G114E	ENSP00000231484:G114E	G	-	2	0	PCDH12	141317260	0.000000	0.05858	0.388000	0.26195	0.977000	0.68977	-0.571000	0.05889	0.731000	0.32448	0.563000	0.77884	GGG	PCDH12	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.572	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	C	NM_016580		141337076	-1	no_errors	ENST00000231484	ensembl	human	known	70_37	missense	SNP	0.020	T
PCDH19	57526	genome.wustl.edu	37	X	99661981	99661981	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chrX:99661981C>T	ENST00000373034.4	-	1	3290	c.1615G>A	c.(1615-1617)Ggc>Agc	p.G539S	PCDH19_ENST00000255531.7_Missense_Mutation_p.G539S|PCDH19_ENST00000420881.2_Missense_Mutation_p.G539S	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGGGAAGGCCGCCGTCCTTG	0.577																																																	0													130.0	127.0	128.0					X																	99661981		2160	4252	6412	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1615G>A	X.37:g.99661981C>T	ENSP00000362125:p.Gly539Ser		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G539S	ENST00000373034.4	37	c.1615	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438968	0.83885	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.66280	-0.2;-0.2;-0.2	5.81	5.81	0.92471	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82921	0.5142	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85682	0.1301	10	0.87932	D	0	.	18.9952	0.92810	0.0:1.0:0.0:0.0	.	539;539;539	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	S	539	ENSP00000400327:G539S;ENSP00000362125:G539S;ENSP00000255531:G539S	ENSP00000255531:G539S	G	-	1	0	PCDH19	99548637	1.000000	0.71417	0.970000	0.41538	0.925000	0.55904	7.818000	0.86416	2.434000	0.82447	0.513000	0.50165	GGC	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.577	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	C	NM_020766		99661981	-1	no_errors	ENST00000373034	ensembl	human	known	70_37	missense	SNP	1.000	T
POMC	5443	genome.wustl.edu	37	2	25384197	25384197	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr2:25384197C>T	ENST00000405623.1	-	3	1012	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	POMC_ENST00000395826.2_Missense_Mutation_p.R186Q|POMC_ENST00000380794.1_Missense_Mutation_p.R186Q|POMC_ENST00000264708.3_Missense_Mutation_p.R186Q|RP11-509E16.1_ENST00000567599.1_lincRNA			P01189	COLI_HUMAN	proopiomelanocortin	186					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	ATCTCCCTCCCGGAGTCGCTG	0.706																																					Colon(110;1515 1566 8452 10082 43216)												0													11.0	12.0	12.0					2																	25384197		2199	4291	6490	SO:0001583	missense	5443				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.557G>A	2.37:g.25384197C>T	ENSP00000384092:p.Arg186Gln		P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH	p.R186Q	ENST00000405623.1	37	c.557	CCDS1717.1	2	.	.	.	.	.	.	.	.	.	.	C	8.742	0.919274	0.17982	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	4.91	-9.82	0.00484	.	4.595200	0.00797	U	0.001392	T	0.54398	0.1856	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.48747	-0.9008	10	0.45353	T	0.12	-15.6596	2.5058	0.04645	0.2959:0.3845:0.1007:0.2189	.	186	P01189	COLI_HUMAN	Q	186	ENSP00000370171:R186Q;ENSP00000384092:R186Q;ENSP00000264708:R186Q;ENSP00000379170:R186Q;ENSP00000387993:R186Q	ENSP00000264708:R186Q	R	-	2	0	POMC	25237701	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.848000	0.04326	-2.784000	0.00359	-1.401000	0.01141	CGG	POMC	-	NULL		0.706	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMC	HGNC	protein_coding	OTTHUMT00000211573.3	C	NM_001035256		25384197	-1	no_errors	ENST00000264708	ensembl	human	known	70_37	missense	SNP	0.000	T
RICTOR	253260	genome.wustl.edu	37	5	38954960	38954960	+	Silent	SNP	T	T	C			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr5:38954960T>C	ENST00000357387.3	-	27	2643	c.2613A>G	c.(2611-2613)ttA>ttG	p.L871L	RICTOR_ENST00000296782.5_Silent_p.L871L|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GAGGACGCTGTAATCTAGTAT	0.299																																																	0													96.0	94.0	95.0					5																	38954960		2203	4300	6503	SO:0001819	synonymous_variant	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2613A>G	5.37:g.38954960T>C				Silent	SNP	superfamily_ARM-type_fold	p.L871	ENST00000357387.3	37	c.2613	CCDS34148.1	5																																																																																			RICTOR	-	superfamily_ARM-type_fold		0.299	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	T	NM_152756		38954960	-1	no_errors	ENST00000296782	ensembl	human	known	70_37	silent	SNP	1.000	C
RLTPR	146206	genome.wustl.edu	37	16	67680869	67680869	+	Missense_Mutation	SNP	G	G	A	rs201634531		TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr16:67680869G>A	ENST00000334583.6	+	8	932	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	RLTPR_ENST00000545661.1_Missense_Mutation_p.G202S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	202					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGCCACCTCGGCAGTCGGTG	0.627																																																	0								G	SER/GLY	2,3956		0,2,1977	22.0	24.0	23.0		604	-0.6	0.9	16		23	0,8336		0,0,4168	yes	missense	RLTPR	NM_001013838.1	56	0,2,6145	AA,AG,GG		0.0,0.0505,0.0163	benign	202/1436	67680869	2,12292	1979	4168	6147	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.604G>A	16.37:g.67680869G>A	ENSP00000334958:p.Gly202Ser		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.G202S	ENST00000334583.6	37	c.604	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789774	0.31685	5.05E-4	0.0	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.50548	0.74;0.74	5.06	-0.642	0.11486	.	0.363988	0.29791	N	0.011197	T	0.18173	0.0436	N	0.08118	0	0.23636	N	0.997234	B;B	0.26547	0.0;0.152	B;B	0.16722	0.001;0.016	T	0.21381	-1.0247	10	0.11485	T	0.65	-10.1894	5.7809	0.18306	0.3214:0.2027:0.4759:0.0	.	202;202	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	S	202	ENSP00000334958:G202S;ENSP00000441481:G202S	ENSP00000334958:G202S	G	+	1	0	RLTPR	66238370	0.233000	0.23772	0.936000	0.37596	0.426000	0.31534	0.994000	0.29693	0.252000	0.21531	-0.244000	0.11960	GGC	RLTPR	-	NULL		0.627	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	G	NM_001013838		67680869	+1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	0.918	A
RPS6KA6	27330	genome.wustl.edu	37	X	83351215	83351215	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chrX:83351215G>A	ENST00000262752.2	-	20	1965	c.1958C>T	c.(1957-1959)tCa>tTa	p.S653L	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S653L|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	653	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TGCTCCGTCTGAAATATTGTC	0.373																																																	0													77.0	63.0	68.0					X																	83351215		2203	4300	6503	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1958C>T	X.37:g.83351215G>A	ENSP00000262752:p.Ser653Leu		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.S653L	ENST00000262752.2	37	c.1958	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409172	0.83340	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.52057	0.68;0.68	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.147752	0.47852	D	0.000212	T	0.77164	0.4090	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.979	D	0.84648	0.0699	10	0.87932	D	0	.	17.3393	0.87291	0.0:0.0:1.0:0.0	.	653;653	B7ZL90;Q9UK32	.;KS6A6_HUMAN	L	653	ENSP00000262752:S653L;ENSP00000440830:S653L	ENSP00000262752:S653L	S	-	2	0	RPS6KA6	83237871	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.527000	0.98044	2.106000	0.64143	0.544000	0.68410	TCA	RPS6KA6	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.373	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	G	NM_014496		83351215	-1	no_errors	ENST00000262752	ensembl	human	known	70_37	missense	SNP	1.000	A
SAMD8	142891	genome.wustl.edu	37	10	76910349	76910349	+	Silent	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr10:76910349G>A	ENST00000542569.1	+	2	166	c.63G>A	c.(61-63)ctG>ctA	p.L21L	SAMD8_ENST00000372690.3_Silent_p.L84L|SAMD8_ENST00000372687.4_Silent_p.L21L	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	21	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.L21L(1)|p.L84L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTGTGTGGCTGAAGGATGAAG	0.453																																																	2	Substitution - coding silent(2)	lung(2)											134.0	124.0	127.0					10																	76910349		2203	4300	6503	SO:0001819	synonymous_variant	142891			AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.63G>A	10.37:g.76910349G>A			Q5JSC5|Q5JSC8|Q66K52	Silent	SNP	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L84	ENST00000542569.1	37	c.252	CCDS53543.1	10																																																																																			SAMD8	-	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.453	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD8	HGNC	protein_coding		G	NM_144660		76910349	+1	no_errors	ENST00000372690	ensembl	human	known	70_37	silent	SNP	1.000	A
SP3	6670	genome.wustl.edu	37	2	174774850	174774850	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr2:174774850G>A	ENST00000310015.6	-	7	2695	c.2165C>T	c.(2164-2166)gCg>gTg	p.A722V	SP3_ENST00000455789.2_Missense_Mutation_p.A669V|SP3_ENST00000418194.2_Missense_Mutation_p.A654V	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	722					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ATCATCTCGCGCAGCTTCCAC	0.423																																																	0													119.0	113.0	115.0					2																	174774850		2203	4300	6503	SO:0001583	missense	6670			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2165C>T	2.37:g.174774850G>A	ENSP00000310301:p.Ala722Val		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A722V	ENST00000310015.6	37	c.2165	CCDS2254.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.401|8.401	0.842053|0.842053	0.16963|0.16963	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194|ENST00000416195	T;T;T|.	0.05786|.	3.4;3.39;3.4|.	5.14|5.14	4.26|4.26	0.50523|0.50523	.|.	0.450476|.	0.23476|.	N|.	0.047775|.	T|T	0.25005|0.25005	0.0607|0.0607	N|N	0.17082|0.17082	0.46|0.46	0.22199|0.22199	N|N	0.9993|0.9993	B;B;B|.	0.28605|.	0.217;0.009;0.117|.	B;B;B|.	0.21546|.	0.015;0.001;0.035|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|5	0.33141|.	T|.	0.24|.	.|.	9.9589|9.9589	0.41684|0.41684	0.0:0.1829:0.6811:0.136|0.0:0.1829:0.6811:0.136	.|.	719;722;669|.	B7ZLN9;Q02447;Q02447-6|.	.;SP3_HUMAN;.|.	V|C	722;669;654|679	ENSP00000310301:A722V;ENSP00000388903:A669V;ENSP00000406140:A654V|.	ENSP00000310301:A722V|.	A|R	-|-	2|1	0|0	SP3|SP3	174483096|174483096	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	5.973000|5.973000	0.70456|0.70456	1.287000|1.287000	0.44583|0.44583	0.557000|0.557000	0.71058|0.71058	GCG|CGC	SP3	-	NULL		0.423	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	G	NM_003111		174774850	-1	no_errors	ENST00000310015	ensembl	human	known	70_37	missense	SNP	0.995	A
SPATA20	64847	genome.wustl.edu	37	17	48625393	48625393	+	Intron	SNP	C	C	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr17:48625393C>T	ENST00000356488.4	+	2	160				SPATA20_ENST00000006658.6_Intron|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Intron	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			AGCCATCCTTCCCACCGCCAG	0.627																																																	0																																										SO:0001627	intron_variant	64847				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.78-251C>T	17.37:g.48625393C>T			Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	RNA	SNP	-	NULL	ENST00000356488.4	37	NULL	CCDS58563.1	17																																																																																			SPATA20	-	-		0.627	SPATA20-004	KNOWN	basic|CCDS	protein_coding	SPATA20	HGNC	protein_coding	OTTHUMT00000367651.1	C	NM_022827		48625393	+1	no_errors	ENST00000511937	ensembl	human	known	70_37	rna	SNP	0.017	T
ZBTB22	9278	genome.wustl.edu	37	6	33281175	33281175	+	IGR	SNP	G	G	C			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr6:33281175G>C	ENST00000431845.2	-	0	2651				TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000475304.1_Missense_Mutation_p.F96L|TAPBP_ENST00000426633.2_Missense_Mutation_p.F96L|TAPBP_ENST00000434618.2_Missense_Mutation_p.F96L|TAPBP_ENST00000456592.2_Missense_Mutation_p.F96L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGAGAGGCACGAAGCGGCTCA	0.687																																																	0													12.0	16.0	14.0					6																	33281175		2194	4294	6488	SO:0001628	intergenic_variant	6892			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281175G>C			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin	p.F96L	ENST00000431845.2	37	c.288	CCDS4775.1	6	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576486	0.28092	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000458089;ENST00000437741;ENST00000467025	T;T;T;T	0.40225	1.3;1.04;1.23;1.3	4.55	0.51	0.16983	.	0.461255	0.22692	N	0.056809	T	0.13030	0.0316	L	0.46157	1.445	0.09310	N	1	P;P;P;P;P	0.48162	0.839;0.727;0.906;0.906;0.751	B;B;B;B;B	0.37304	0.233;0.246;0.228;0.228;0.08	T	0.10382	-1.0632	10	0.46703	T	0.11	-7.5328	6.2026	0.20585	0.4568:0.0:0.5432:0.0	.	96;96;96;96;96	G5E9H8;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;TPSN_HUMAN	L	96;96;96;96;96;96;96;39	ENSP00000395701:F96L;ENSP00000417949:F96L;ENSP00000404833:F96L;ENSP00000387803:F96L	ENSP00000404833:F96L	F	-	3	2	TAPBP	33389153	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	0.076000	0.14712	0.188000	0.20168	-0.262000	0.10625	TTC	TAPBP	-	NULL		0.687	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000076183.2	G			33281175	-1	no_errors	ENST00000426633	ensembl	human	known	70_37	missense	SNP	0.000	C
TTLL2	83887	genome.wustl.edu	37	6	167754940	167754940	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr6:167754940C>T	ENST00000239587.5	+	3	1640	c.1552C>T	c.(1552-1554)Cac>Tac	p.H518Y		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	518					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCACACGCCTCACAAGACACT	0.572																																																	0													145.0	119.0	128.0					6																	167754940		2203	4300	6503	SO:0001583	missense	83887			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1552C>T	6.37:g.167754940C>T	ENSP00000239587:p.His518Tyr		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.H518Y	ENST00000239587.5	37	c.1552	CCDS5301.1	6	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.771142	0.00645	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02301	4.35	3.67	0.648	0.17801	.	1.796010	0.02774	N	0.120051	T	0.00440	0.0014	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34650	-0.9820	10	0.02654	T	1	.	5.3156	0.15854	0.0:0.4923:0.3226:0.1852	.	518	Q9BWV7	TTLL2_HUMAN	Y	518;445	ENSP00000239587:H518Y	ENSP00000239587:H518Y	H	+	1	0	TTLL2	167674930	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.596000	0.05720	0.218000	0.20820	-0.479000	0.04858	CAC	TTLL2	-	NULL		0.572	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	HGNC	protein_coding	OTTHUMT00000043127.3	C	NM_031949		167754940	+1	no_errors	ENST00000239587	ensembl	human	known	70_37	missense	SNP	0.000	T
TSIX	9383	genome.wustl.edu	37	X	73046776	73046776	+	lincRNA	SNP	C	C	T			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chrX:73046776C>T	ENST00000604411.1	+	0	34737				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		CCATCCAACTCAGGCCTTCGG	0.493																																																	0													105.0	95.0	98.0					X																	73046776		876	1991	2867			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73046776C>T				RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-		0.493	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	C	NR_003255		73046776	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.021	T
ZNF521	25925	genome.wustl.edu	37	18	22805422	22805422	+	Silent	SNP	C	C	T	rs199692978		TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr18:22805422C>T	ENST00000361524.3	-	4	2608	c.2460G>A	c.(2458-2460)gcG>gcA	p.A820A	ZNF521_ENST00000584787.1_Silent_p.A600A|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.A820A	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	820					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.A820A(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACAAAATGATCGCATGGAAGG	0.468			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - coding silent(1)	lung(1)						C		1,4405	2.1+/-5.4	0,1,2202	162.0	154.0	157.0		2460	-2.6	0.7	18		157	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF521	NM_015461.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		820/1312	22805422	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2460G>A	18.37:g.22805422C>T			A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A820	ENST00000361524.3	37	c.2460	CCDS32806.1	18																																																																																			ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	C	NM_015461		22805422	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	silent	SNP	0.619	T
ZNF536	9745	genome.wustl.edu	37	19	31039377	31039377	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A4AU-01A-32D-A243-09	TCGA-LP-A4AU-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8a53198f-ee29-4cca-8cb2-9944790bcc53	e6f97122-0a11-4a7e-9332-9aaf33cb0d38	g.chr19:31039377G>A	ENST00000355537.3	+	4	2998	c.2851G>A	c.(2851-2853)Gga>Aga	p.G951R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	951					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAAAGTCCACGGAGTGGATGG	0.532																																																	0													118.0	128.0	124.0					19																	31039377		2203	4300	6503	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2851G>A	19.37:g.31039377G>A	ENSP00000347730:p.Gly951Arg		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G951R	ENST00000355537.3	37	c.2851	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	0.226	-1.025085	0.02061	.	.	ENSG00000198597	ENST00000355537	T	0.09255	3.0	5.46	2.94	0.34122	.	0.596428	0.18534	N	0.138408	T	0.04770	0.0129	N	0.14661	0.345	0.19300	N	0.999975	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.44937	-0.9295	10	0.08381	T	0.77	-6.5312	5.0915	0.14710	0.1953:0.0:0.6474:0.1574	.	951;951	A7E228;O15090	.;ZN536_HUMAN	R	951	ENSP00000347730:G951R	ENSP00000347730:G951R	G	+	1	0	ZNF536	35731217	1.000000	0.71417	0.004000	0.12327	0.874000	0.50279	4.239000	0.58694	0.430000	0.26230	0.491000	0.48974	GGA	ZNF536	-	NULL		0.532	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	G	NM_014717		31039377	+1	no_errors	ENST00000355537	ensembl	human	known	70_37	missense	SNP	0.250	A
