#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_ ensembl_gene_id	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_GMAF	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_dbSNP	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_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
SHBG	6462	genome.wustl.edu	37	17	7534625	7534625	+	Silent	SNP	C	C	T			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr17:7534625C>T	ENST00000380450.4	+	4	532	c.501C>T	c.(499-501)atC>atT	p.I167I	SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000575903.1_Silent_p.I167I|SHBG_ENST00000340624.5_Silent_p.I109I|SHBG_ENST00000416273.3_Silent_p.I167I|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000570547.1_Silent_p.I109I|SHBG_ENST00000575314.1_Silent_p.I109I|SHBG_ENST00000574539.1_Silent_p.I109I|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000441599.2_Silent_p.I167I	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	167	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	GCCATCCCATCATGAGGATTG	0.612													ENSG00000129214																																					2	Unknown(1)|Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)											44.0	41.0	42.0					17																	7534625		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.501C>T	17.37:g.7534625C>T			B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf	p.H137Y	ENST00000380450.4	37	c.409	CCDS11117.1	17																																																																																			-	SHBG	-	NULL		0.612	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHBG	HGNC	protein_coding	OTTHUMT00000226957.2	0	0	0	29	29	60	0.00	0.00	C	NM_001040		7534625	+1	24	16	15	22	tier1	no_errors	ENST00000570353	ensembl	human	known	74_37	missense	61.54	42.11	SNP	0.001	T	24	15
SLC25A32	81034	genome.wustl.edu	37	8	104417074	104417074	+	Silent	SNP	C	C	T			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr8:104417074C>T	ENST00000297578.4	-	3	487	c.321G>A	c.(319-321)aaG>aaA	p.K107K	SLC25A32_ENST00000543107.1_Intron|SLC25A32_ENST00000523701.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	107					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TTTTATATGACTTGATGGCAT	0.358													ENSG00000164933																																					0													129.0	104.0	113.0					8																	104417074		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.321G>A	8.37:g.104417074C>T			Q96JZ6|Q96SU7	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.K107	ENST00000297578.4	37	c.321	CCDS6300.1	8																																																																																			-	SLC25A32	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling		0.358	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A32	HGNC	protein_coding	OTTHUMT00000380290.2	0	0	0	39	39	93	0.00	0.00	C	NM_030780		104417074	-1	5	35	14	37	tier1	no_errors	ENST00000297578	ensembl	human	known	74_37	silent	26.32	48.61	SNP	1.000	T	5	14
RB1	5925	genome.wustl.edu	37	13	48939108	48939108	+	Splice_Site	SNP	G	G	A			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr13:48939108G>A	ENST00000267163.4	+	9	1077		c.e9+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACTTCCAGAGGTAATCTGAAA	0.284		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			ENSG00000139687																											yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	22	Whole gene deletion(15)|Unknown(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											19.0	18.0	18.0					13																	48939108		2123	4234	6357	SO:0001630	splice_region_variant	0	Familial Cancer Database		-	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.939+1G>A	13.37:g.48939108G>A			A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	-	e9+1	ENST00000267163.4	37	c.939+1	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165514	0.78339	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2315	0.89936	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47837109	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.662000	0.74426	2.657000	0.90304	0.655000	0.94253	.	-	RB1	-	-		0.284	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	0	0	0	62	62	60	0.00	0.00	G		Intron	48939108	+1	27	11	62	42	tier1	no_errors	ENST00000267163	ensembl	human	known	74_37	splice_site	30.34	20.75	SNP	1.000	A	27	62
PXDNL	137902	genome.wustl.edu	37	8	52284449	52284449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr8:52284449C>T	ENST00000356297.4	-	19	3985	c.3885G>A	c.(3883-3885)tgG>tgA	p.W1295*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.W1295*	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1295					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCAGTCTTGCCACACTCGCA	0.468													ENSG00000147485																																					0													58.0	57.0	57.0					8																	52284449		2059	4191	6250	SO:0001587	stop_gained	0			-		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3885G>A	8.37:g.52284449C>T	ENSP00000348645:p.Trp1295*		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.W1295*	ENST00000356297.4	37	c.3885	CCDS47855.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.934336|8.934336	0.99008|0.99008	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|.	.|.	.|.	4.76|4.76	3.87|3.87	0.44632|0.44632	.|.	.|0.000000	.|0.44483	.|D	.|0.000456	T|.	0.27594|.	0.0678|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29579|.	-1.0007|.	3|.	.|0.02654	.|T	.|1	.|.	12.0494|12.0494	0.53498|0.53498	0.174:0.826:0.0:0.0|0.174:0.826:0.0:0.0	.|.	.|.	.|.	.|.	D|X	369|1295	.|.	.|ENSP00000348645:W1295X	G|W	-|-	2|3	0|0	PXDNL|PXDNL	52447002|52447002	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.264000|0.264000	0.26372|0.26372	5.047000|5.047000	0.64232|0.64232	0.988000|0.988000	0.38734|0.38734	0.491000|0.491000	0.48974|0.48974	GGC|TGG	-	PXDNL	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.468	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	0	0	0	19	19	58	0.00	0.00	C	NM_144651		52284449	-1	6	14	22	42	tier1	no_errors	ENST00000356297	ensembl	human	known	74_37	nonsense	21.43	25.00	SNP	1.000	T	6	22
KIF1B	23095	genome.wustl.edu	37	1	10318638	10318638	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr1:10318638G>T	ENST00000377086.1	+	4	473	c.271G>T	c.(271-273)Gtc>Ttc	p.V91F	KIF1B_ENST00000377093.4_Missense_Mutation_p.V91F|KIF1B_ENST00000377081.1_Missense_Mutation_p.V91F|KIF1B_ENST00000263934.6_Missense_Mutation_p.V91F|KIF1B_ENST00000377083.1_Missense_Mutation_p.V91F			O60333	KIF1B_HUMAN	kinesin family member 1B	91	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGGATATAATGTCTGTATTTT	0.423													ENSG00000054523																																					0													154.0	144.0	147.0					1																	10318638		2203	4300	6503	SO:0001583	missense	0			-	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.271G>T	1.37:g.10318638G>T	ENSP00000366290:p.Val91Phe		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V91F	ENST00000377086.1	37	c.271		1	.	.	.	.	.	.	.	.	.	.	G	32	5.114101	0.94339	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.69	5.69	0.88448	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.90205	0.6938	M	0.87038	2.855	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.98;0.993;0.992	D	0.90941	0.4797	10	0.66056	D	0.02	.	19.8093	0.96541	0.0:0.0:1.0:0.0	.	91;91;91;91;91;91;91	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	F	91	ENSP00000263934:V91F;ENSP00000366297:V91F;ENSP00000366290:V91F;ENSP00000366287:V91F;ENSP00000366284:V91F	ENSP00000263934:V91F	V	+	1	0	KIF1B	10241225	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.776000	0.99001	2.688000	0.91661	0.460000	0.39030	GTC	-	KIF1B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.423	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	0	0	0	74	74	113	0.00	0.00	G			10318638	+1	21	33	75	90	tier1	no_errors	ENST00000263934	ensembl	human	known	74_37	missense	21.88	26.83	SNP	1.000	T	21	75
IQGAP3	128239	genome.wustl.edu	37	1	156510676	156510676	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr1:156510676G>A	ENST00000361170.2	-	23	2573	c.2563C>T	c.(2563-2565)Cgc>Tgc	p.R855C	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	855					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAAATCTGCGTACCACACTG	0.562													ENSG00000183856																																					0													81.0	77.0	78.0					1																	156510676		2203	4300	6503	SO:0001583	missense	0			-	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2563C>T	1.37:g.156510676G>A	ENSP00000354451:p.Arg855Cys		Q5T3H8	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.R855C	ENST00000361170.2	37	c.2563	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172519	0.38315	.	.	ENSG00000183856	ENST00000361170	T	0.03635	3.86	5.02	1.98	0.26296	.	0.060473	0.64402	N	0.000005	T	0.01421	0.0046	L	0.40543	1.245	0.58432	D	0.999999	B	0.11235	0.004	B	0.08055	0.003	T	0.40794	-0.9544	10	0.54805	T	0.06	-4.5393	8.8453	0.35166	0.2675:0.0:0.7325:0.0	.	855	Q86VI3	IQGA3_HUMAN	C	855	ENSP00000354451:R855C	ENSP00000354451:R855C	R	-	1	0	IQGAP3	154777300	0.997000	0.39634	0.372000	0.25991	0.946000	0.59487	2.862000	0.48388	0.654000	0.30846	0.655000	0.94253	CGC	-	IQGAP3	-	NULL		0.562	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	0	0	0	20	20	57	0.00	0.00	G	NM_178229		156510676	-1	12	17	30	49	tier1	no_errors	ENST00000361170	ensembl	human	known	74_37	missense	28.57	25.76	SNP	0.643	A	12	30
CCDC181	57821	genome.wustl.edu	37	1	169391311	169391311	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr1:169391311C>A	ENST00000367806.3	-	3	510	c.358G>T	c.(358-360)Gat>Tat	p.D120Y	CCDC181_ENST00000545005.1_Missense_Mutation_p.D120Y|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.D120Y	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	120	Poly-Glu.					nucleus (GO:0005634)											ACTTCCTCATCCTCTTCCTCC	0.388													ENSG00000117477																																					0													75.0	76.0	76.0					1																	169391311		2203	4300	6503	SO:0001583	missense	0			-	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.358G>T	1.37:g.169391311C>A	ENSP00000356780:p.Asp120Tyr		O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	NULL	p.D120Y	ENST00000367806.3	37	c.358		1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255019	0.59321	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.44482	1.11;1.12;1.11;0.92	5.18	5.18	0.71444	.	0.051913	0.85682	D	0.000000	T	0.57184	0.2036	M	0.67953	2.075	0.41409	D	0.987725	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.99;0.99	T	0.61247	-0.7101	9	0.66056	D	0.02	-23.1123	17.6843	0.88252	0.0:1.0:0.0:0.0	.	120;120;120	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	Y	120	ENSP00000356779:D120Y;ENSP00000356780:D120Y;ENSP00000442297:D120Y;ENSP00000411000:D120Y	ENSP00000356779:D120Y	D	-	1	0	C1orf114	167657935	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	4.217000	0.58547	2.413000	0.81919	0.563000	0.77884	GAT	-	CCDC181	-	NULL		0.388	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC181	HGNC	protein_coding	OTTHUMT00000086099.1	0	0	0	21	21	29	0.00	0.00	C	NM_021179		169391311	-1	9	15	13	23	tier1	no_errors	ENST00000367806	ensembl	human	known	74_37	missense	40.91	39.47	SNP	1.000	A	9	13
KLC2	64837	genome.wustl.edu	37	11	66032513	66032513	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr11:66032513G>A	ENST00000417856.1	+	10	1479	c.1236G>A	c.(1234-1236)tgG>tgA	p.W412*	KLC2_ENST00000421552.1_Nonsense_Mutation_p.W335*|KLC2_ENST00000394067.2_Nonsense_Mutation_p.W412*|KLC2_ENST00000394066.2_Nonsense_Mutation_p.W335*|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394065.2_Nonsense_Mutation_p.W273*|KLC2_ENST00000316924.5_Nonsense_Mutation_p.W412*|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	412					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGCCCATCTGGATGCACGCAG	0.632											OREG0021098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000174996																																					0													87.0	87.0	87.0					11																	66032513		2200	4295	6495	SO:0001587	stop_gained	0			-	AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1236G>A	11.37:g.66032513G>A	ENSP00000399403:p.Trp412*	1088	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Nonsense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W412*	ENST00000417856.1	37	c.1236	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.610519	0.98387	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	.	.	.	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.85	16.2192	0.82247	0.0:0.0:1.0:0.0	.	.	.	.	X	412;412;412;335;335;273	.	ENSP00000314837:W412X	W	+	3	0	KLC2	65789089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.522000	0.98032	2.351000	0.79841	0.561000	0.74099	TGG	-	KLC2	-	NULL		0.632	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	0	0	0	17	17	60	0.00	0.00	G	NM_022822		66032513	+1	14	18	17	40	tier1	no_errors	ENST00000316924	ensembl	human	known	74_37	nonsense	45.16	30.51	SNP	1.000	A	14	17
PARP8	79668	genome.wustl.edu	37	5	50130827	50130827	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr5:50130827G>A	ENST00000281631.5	+	25	2598	c.2440G>A	c.(2440-2442)Gtc>Atc	p.V814I	PARP8_ENST00000505697.2_Missense_Mutation_p.V814I|PARP8_ENST00000514067.2_Missense_Mutation_p.V772I|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.V793I|PARP8_ENST00000503750.2_Missense_Mutation_p.V772I	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	814	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TACTGACCATGTCTGCACACG	0.383													ENSG00000151883																																					0													125.0	114.0	118.0					5																	50130827		2203	4300	6503	SO:0001583	missense	0			-	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2440G>A	5.37:g.50130827G>A	ENSP00000281631:p.Val814Ile		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.V814I	ENST00000281631.5	37	c.2440	CCDS3954.1	5	.	.	.	.	.	.	.	.	.	.	G	29.4	5.007230	0.93287	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.81	5.81	0.92471	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.65228	0.2671	N	0.25201	0.72	0.80722	D	1	P;D;P	0.53312	0.92;0.959;0.92	D;D;D	0.68192	0.956;0.949;0.956	T	0.61173	-0.7116	8	.	.	.	-12.426	20.0784	0.97758	0.0:0.0:1.0:0.0	.	706;772;814	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	I	814;772;814;772;793	.	.	V	+	1	0	PARP8	50166584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GTC	-	PARP8	-	pfscan_Poly(ADP-ribose)pol_cat_dom		0.383	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	HGNC	protein_coding	OTTHUMT00000214035.3	0	0	0	59	59	107	0.00	0.00	G	NM_024615		50130827	+1	14	46	32	65	tier1	no_errors	ENST00000281631	ensembl	human	known	74_37	missense	30.43	41.44	SNP	1.000	A	14	32
TOP1MT	116447	genome.wustl.edu	37	8	144397980	144397980	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr8:144397980C>G	ENST00000329245.4	-	12	1504	c.1470G>C	c.(1468-1470)aaG>aaC	p.K490N	TOP1MT_ENST00000523676.1_Missense_Mutation_p.K392N|TOP1MT_ENST00000521193.1_Missense_Mutation_p.K392N|AC087793.1_ENST00000585120.1_RNA|TOP1MT_ENST00000519148.1_Missense_Mutation_p.K392N	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	490					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CCTGCTCCTTCTTTGCCTGGA	0.657													ENSG00000184428																																					0													97.0	66.0	76.0					8																	144397980		2203	4300	6503	SO:0001583	missense	0			-	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1470G>C	8.37:g.144397980C>G	ENSP00000328835:p.Lys490Asn		B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	pfam_TopoI_D-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_D-bd_euk,superfamily_D_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.K490N	ENST00000329245.4	37	c.1470	CCDS6400.1	8	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309845	0.40895	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	3.56	1.65	0.23941	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerases I, dispensable insert, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);	0.000000	0.46758	U	0.000278	T	0.71719	0.3373	M	0.93763	3.455	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.74241	-0.3729	9	.	.	.	.	8.6222	0.33868	0.0:0.7832:0.0:0.2168	.	285;490	E7ESI1;Q969P6	.;TOP1M_HUMAN	N	490;392;392;392	ENSP00000328835:K490N;ENSP00000428369:K392N;ENSP00000429169:K392N;ENSP00000429181:K392N	.	K	-	3	2	TOP1MT	144469355	1.000000	0.71417	0.007000	0.13788	0.135000	0.20990	1.527000	0.35975	0.598000	0.29829	0.514000	0.50259	AAG	-	TOP1MT	-	pfam_TopoI_cat_euk,superfamily_D_brk_join_enz,smart_TopoI_euk		0.657	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1MT	HGNC	protein_coding	OTTHUMT00000381247.3	0	0	0	60	60	31	0.00	0.00	C	NM_052963		144397980	-1	16	4	60	26	tier1	no_errors	ENST00000329245	ensembl	human	known	74_37	missense	21.05	13.33	SNP	1.000	G	16	60
BCL7A	605	genome.wustl.edu	37	12	122492735	122492735	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr12:122492735A>C	ENST00000261822.4	+	5	670	c.464A>C	c.(463-465)cAg>cCg	p.Q155P	BCL7A_ENST00000538010.1_Missense_Mutation_p.Q155P	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	155					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CAGAATTCACAGTCCTCGATG	0.537			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000110987																									GBM(17;197 467 16477 23242 44349)			Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	0													129.0	136.0	134.0					12																	122492735		2203	4300	6503	SO:0001583	missense	0			-	X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.464A>C	12.37:g.122492735A>C	ENSP00000261822:p.Gln155Pro	1519	B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP	pfam_BCL7	p.Q155P	ENST00000261822.4	37	c.464	CCDS53841.1	12	.	.	.	.	.	.	.	.	.	.	A	13.18	2.161526	0.38119	.	.	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.48522	0.81;0.83	6.07	4.91	0.64330	.	0.171731	0.52532	D	0.000080	T	0.40171	0.1106	N	0.12182	0.205	0.49051	D	0.999744	D;D	0.59767	0.976;0.986	P;P	0.54174	0.454;0.744	T	0.16778	-1.0391	10	0.21014	T	0.42	.	12.6969	0.57010	0.8763:0.0:0.0:0.1236	.	155;155	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	P	155	ENSP00000445868:Q155P;ENSP00000261822:Q155P	ENSP00000261822:Q155P	Q	+	2	0	BCL7A	120977118	1.000000	0.71417	0.976000	0.42696	0.819000	0.46315	4.651000	0.61447	1.093000	0.41377	-0.333000	0.08304	CAG	-	BCL7A	-	NULL		0.537	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	BCL7A	HGNC	protein_coding	OTTHUMT00000401712.1	0	0	0	41	41	52	0.00	0.00	A			122492735	+1	7	5	30	45	tier1	no_errors	ENST00000538010	ensembl	human	known	74_37	missense	18.92	10.00	SNP	1.000	C	7	30
FAM135B	51059	genome.wustl.edu	37	8	139164696	139164696	+	Silent	SNP	C	C	T	rs578029235		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr8:139164696C>T	ENST00000395297.1	-	13	2192	c.2022G>A	c.(2020-2022)ggG>ggA	p.G674G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	674										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTTGATGACCCCGGATAGCA	0.522										HNSCC(54;0.14)			ENSG00000147724																																					0													84.0	83.0	83.0					8																	139164696		1928	4124	6052	SO:0001819	synonymous_variant	0			-	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2022G>A	8.37:g.139164696C>T			B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.G674	ENST00000395297.1	37	c.2022	CCDS6375.2	8																																																																																			-	FAM135B	-	NULL		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	0	0	0	30	30	90	0.00	0.00	C	NM_015912		139164696	-1	11	23	25	83	tier1	no_errors	ENST00000395297	ensembl	human	known	74_37	silent	30.56	21.70	SNP	0.136	T	11	25
PCSK5	5125	genome.wustl.edu	37	9	78710909	78710909	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr9:78710909T>C	ENST00000545128.1	+	8	1536	c.998T>C	c.(997-999)aTc>aCc	p.I333T	PCSK5_ENST00000376752.4_Missense_Mutation_p.I333T|PCSK5_ENST00000376767.3_Missense_Mutation_p.I333T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	333	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATCTACACCATCTCCATCAGC	0.542													ENSG00000099139																																					0													177.0	144.0	156.0					9																	78710909		2203	4300	6503	SO:0001583	missense	0			-		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.998T>C	9.37:g.78710909T>C	ENSP00000446280:p.Ile333Thr		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.I333T	ENST00000545128.1	37	c.998	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508667	0.85282	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376767;ENST00000396108;ENST00000376752;ENST00000424854	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.8	5.8	0.92144	.	0.045626	0.85682	D	0.000000	D	0.96552	0.8875	M	0.93720	3.45	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	D;D	0.77557	0.974;0.99	D	0.97527	1.0077	10	0.87932	D	0	-25.5858	16.1459	0.81569	0.0:0.0:0.0:1.0	.	333;333	Q92824-2;B1AMG5	.;.	T	333;36;333;333;333;6	ENSP00000446280:I333T;ENSP00000365958:I333T;ENSP00000365943:I333T;ENSP00000411654:I6T	ENSP00000365943:I333T	I	+	2	0	PCSK5	77900729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.221000	0.72209	0.528000	0.53228	ATC	-	PCSK5	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom		0.542	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		0	0	0	46	46	142	0.00	0.00	T			78710909	+1	7	23	29	142	tier1	no_errors	ENST00000545128	ensembl	human	known	74_37	missense	19.44	13.94	SNP	1.000	C	7	29
LAPTM5	7805	genome.wustl.edu	37	1	31214657	31214657	+	Intron	SNP	G	G	C			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr1:31214657G>C	ENST00000294507.3	-	3	256				MIR4420_ENST00000583944.1_RNA|LAPTM5_ENST00000476492.1_5'UTR	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5						transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGTTtggggacatgaggat	0.587													ENSG00000162511																																					0																																										SO:0001627	intron_variant	0			-	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.182-94C>G	1.37:g.31214657G>C			Q13240|Q14698|Q3KP54	R	SNP	-	NULL	ENST00000294507.3	37	NULL	CCDS337.1	1																																																																																			-	LAPTM5	-	-		0.587	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAPTM5	HGNC	protein_coding	OTTHUMT00000010463.1	0	0	0	25	25	79	0.00	0.00	G	NM_006762		31214657	-1	4	20	13	61	tier1	no_errors	ENST00000476492	ensembl	human	known	74_37	rna	23.53	24.69	SNP	0.000	C	4	13
OCRL	4952	genome.wustl.edu	37	X	128723702	128723702	+	Intron	SNP	A	A	G			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chrX:128723702A>G	ENST00000371113.4	+	23	2634				OCRL_ENST00000357121.5_Intron	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe						cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TAGAAGTTAGACAGATGAAAT	0.428													ENSG00000122126																																					0																																										SO:0001627	intron_variant	0			-	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2470-120A>G	X.37:g.128723702A>G			A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	R	SNP	-	NULL	ENST00000371113.4	37	NULL	CCDS35393.1	X																																																																																			-	OCRL	-	-		0.428	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	0	0	0	41	41	133	0.00	0.00	A	NM_000276		128723702	+1	6	47	8	57	tier1	no_errors	ENST00000463271	ensembl	human	known	74_37	rna	42.86	45.19	SNP	0.000	G	6	8
GPR37	2861	genome.wustl.edu	37	7	124404110	124404110	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr7:124404110G>C	ENST00000303921.2	-	1	1571	c.921C>G	c.(919-921)gaC>gaG	p.D307E		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	307					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGATGAGAAAGTCCCAGAAGG	0.547													ENSG00000170775																																					0													125.0	133.0	130.0					7																	124404110		2203	4300	6503	SO:0001583	missense	0			-		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.921C>G	7.37:g.124404110G>C	ENSP00000306449:p.Asp307Glu		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.D307E	ENST00000303921.2	37	c.921	CCDS5792.1	7	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699112	0.68501	.	.	ENSG00000170775	ENST00000303921	D	0.87966	-2.32	5.53	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.167388	0.51477	D	0.000081	D	0.93015	0.7777	M	0.88775	2.98	0.43667	D	0.996094	D	0.89917	1.0	D	0.91635	0.999	D	0.92363	0.5899	10	0.87932	D	0	-40.3063	8.6167	0.33835	0.32:0.0:0.68:0.0	.	307	O15354	GPR37_HUMAN	E	307	ENSP00000306449:D307E	ENSP00000306449:D307E	D	-	3	2	GPR37	124191346	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.867000	0.39499	0.903000	0.36546	-0.163000	0.13421	GAC	-	GPR37	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.547	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	HGNC	protein_coding	OTTHUMT00000347873.1	0	0	0	33	33	86	0.00	0.00	G	NM_005302		124404110	-1	18	24	31	56	tier1	no_errors	ENST00000303921	ensembl	human	known	74_37	missense	36.73	30.00	SNP	1.000	C	18	31
ANO7	50636	genome.wustl.edu	37	2	242162614	242162614	+	Missense_Mutation	SNP	C	C	T	rs372507979		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr2:242162614C>T	ENST00000274979.8	+	22	2600	c.2497C>T	c.(2497-2499)Cgg>Tgg	p.R833W	ANO7_ENST00000402430.3_Missense_Mutation_p.R832W	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	833					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCGGGCTTTCCGGGATGACGA	0.567													ENSG00000146205																																					0								C	TRP/ARG	0,4406		0,0,2203	227.0	202.0	210.0		2497	-3.8	0.4	2		210	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANO7	NM_001001891.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	833/934	242162614	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2497C>T	2.37:g.242162614C>T	ENSP00000274979:p.Arg833Trp		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.R833W	ENST00000274979.8	37	c.2497	CCDS33423.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.498233|2.498233	0.44455|0.44455	0.0|0.0	1.16E-4|1.16E-4	ENSG00000146205|ENSG00000146205	ENST00000451047|ENST00000274979;ENST00000402430	.|T;T	.|0.76968	.|-0.89;-1.06	3.45|3.45	-3.77|-3.77	0.04346|0.04346	.|.	.|.	.|.	.|.	.|.	D|D	0.88890|0.88890	0.6560|0.6560	H|H	0.95187|0.95187	3.635|3.635	0.36162|0.36162	D|D	0.848205|0.848205	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.88456|0.88456	0.3052|0.3052	5|9	.|0.87932	.|D	.|0	.|.	9.2136|9.2136	0.37333|0.37333	0.4817:0.4031:0.1152:0.0|0.4817:0.4031:0.1152:0.0	.|.	.|833	.|Q6IWH7	.|ANO7_HUMAN	L|W	145|833;832	.|ENSP00000274979:R833W;ENSP00000385418:R832W	.|ENSP00000274979:R833W	P|R	+|+	2|1	0|2	ANO7|ANO7	241811287|241811287	0.002000|0.002000	0.14202|0.14202	0.421000|0.421000	0.26609|0.26609	0.472000|0.472000	0.32918|0.32918	-0.539000|-0.539000	0.06113|0.06113	-0.575000|-0.575000	0.05982|0.05982	0.467000|0.467000	0.42956|0.42956	CCG|CGG	-	ANO7	-	pfam_Anoctamin		0.567	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	0	0	0	55	55	105	0.00	0.00	C	NM_001001891		242162614	+1	19	42	58	103	tier1	no_errors	ENST00000274979	ensembl	human	known	74_37	missense	24.68	28.77	SNP	0.985	T	19	58
IGFBP7	3490	genome.wustl.edu	37	4	57907080	57907080	+	Silent	SNP	G	G	A			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr4:57907080G>A	ENST00000295666.4	-	2	528	c.495C>T	c.(493-495)ccC>ccT	p.P165P	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Silent_p.P165P	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	165	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGTCCTTGGGGGGCGTCACTA	0.498													ENSG00000163453																																					0													73.0	63.0	67.0					4																	57907080		2203	4300	6503	SO:0001819	synonymous_variant	0			-	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"""Immunoglobulin superfamily / I-set domain containing"""	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.495C>T	4.37:g.57907080G>A			B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Silent	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_IGFBP-like,smart_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom	p.P165	ENST00000295666.4	37	c.495	CCDS3512.1	4																																																																																			-	IGFBP7	-	pfam_Ig_I-set,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom		0.498	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IGFBP7	HGNC	protein_coding	OTTHUMT00000250693.1	0	0	0	24	24	111	0.00	0.00	G			57907080	-1	18	28	31	99	tier1	no_errors	ENST00000295666	ensembl	human	known	74_37	silent	36.73	21.88	SNP	0.989	A	18	31
USP45	85015	genome.wustl.edu	37	6	99894289	99894289	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr6:99894289T>A	ENST00000327681.6	-	14	1891	c.1359A>T	c.(1357-1359)gaA>gaT	p.E453D	USP45_ENST00000500704.2_Missense_Mutation_p.E453D|USP45_ENST00000392738.2_Missense_Mutation_p.E133D|USP45_ENST00000369233.2_Missense_Mutation_p.E405D|USP45_ENST00000539675.1_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	453	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATGTGACAGTTTCTCCAGATG	0.358													ENSG00000123552																																					0													42.0	39.0	40.0					6																	99894289		2203	4300	6503	SO:0001583	missense	0			-	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1359A>T	6.37:g.99894289T>A	ENSP00000333376:p.Glu453Asp		B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.E453D	ENST00000327681.6	37	c.1359	CCDS34501.1	6	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210455	0.58343	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000369233	T;T;T;T	0.19532	2.14;3.67;3.67;3.49	5.51	3.17	0.36434	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.453160	0.23405	N	0.048527	T	0.05364	0.0142	L	0.39245	1.2	0.80722	D	1	B;B	0.14012	0.007;0.009	B;B	0.15484	0.007;0.013	T	0.15435	-1.0437	10	0.10636	T	0.68	.	8.0409	0.30521	0.0:0.1585:0.0:0.8415	.	453;133	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	D	133;453;453;405	ENSP00000376495:E133D;ENSP00000424372:E453D;ENSP00000333376:E453D;ENSP00000358236:E405D	ENSP00000333376:E453D	E	-	3	2	USP45	100001010	0.692000	0.27719	0.662000	0.29724	0.397000	0.30659	0.555000	0.23422	0.929000	0.37192	0.477000	0.44152	GAA	-	USP45	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.358	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP45	HGNC	protein_coding	OTTHUMT00000041609.2	0	0	0	47	47	85	0.00	0.00	T	NM_032929		99894289	-1	10	21	31	50	tier1	no_errors	ENST00000327681	ensembl	human	known	74_37	missense	24.39	29.58	SNP	0.934	A	10	31
DCLK3	85443	genome.wustl.edu	37	3	36759571	36759571	+	Silent	SNP	G	G	A	rs370718609		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr3:36759571G>A	ENST00000416516.2	-	4	2173	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	561	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TAAAGAGCTCGTCCTGGTCCC	0.552													ENSG00000163673																																					0								G		1,4085		0,1,2042	152.0	166.0	161.0		1683	-6.3	0.9	3		161	0,8414		0,0,4207	no	coding-synonymous	DCLK3	NM_033403.1		0,1,6249	AA,AG,GG		0.0,0.0245,0.0080		561/649	36759571	1,12499	2043	4207	6250	SO:0001819	synonymous_variant	0			-	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1683C>T	3.37:g.36759571G>A				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D561	ENST00000416516.2	37	c.1683	CCDS43064.1	3																																																																																			-	DCLK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.552	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	HGNC	protein_coding	OTTHUMT00000341727.1	0	0	0	58	58	98	0.00	0.00	G	XM_047355		36759571	-1	29	28	43	67	tier1	no_errors	ENST00000416516	ensembl	human	known	74_37	silent	40.28	29.47	SNP	0.748	A	29	43
RYR2	6262	genome.wustl.edu	37	1	237780697	237780697	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr1:237780697C>G	ENST00000366574.2	+	38	6144	c.5827C>G	c.(5827-5829)Cga>Gga	p.R1943G	RYR2_ENST00000542537.1_Missense_Mutation_p.R1927G|RYR2_ENST00000360064.6_Missense_Mutation_p.R1941G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1943	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAACGTTTCCGATACAACGA	0.468													ENSG00000198626																																					0													102.0	94.0	96.0					1																	237780697		1982	4187	6169	SO:0001583	missense	0			-	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5827C>G	1.37:g.237780697C>G	ENSP00000355533:p.Arg1943Gly		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R1941G	ENST00000366574.2	37	c.5821	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062420	0.76187	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73897	-0.79;-0.79;-0.79	5.39	4.45	0.53987	.	0.000000	0.56097	D	0.000033	D	0.85217	0.5646	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86910	0.2060	10	0.87932	D	0	.	14.1661	0.65477	0.2793:0.7207:0.0:0.0	.	1943	Q92736	RYR2_HUMAN	G	1943;1941;1927	ENSP00000355533:R1943G;ENSP00000353174:R1941G;ENSP00000443798:R1927G	ENSP00000353174:R1941G	R	+	1	2	RYR2	235847320	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	3.310000	0.51911	1.199000	0.43173	0.650000	0.86243	CGA	-	RYR2	-	NULL		0.468	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	0	0	0	36	36	122	0.00	0.00	C	NM_001035		237780697	+1	6	10	29	75	tier1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	17.14	11.76	SNP	1.000	G	6	29
DMD	1756	genome.wustl.edu	37	X	32519917	32519917	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chrX:32519917C>A	ENST00000357033.4	-	19	2541	c.2335G>T	c.(2335-2337)Gat>Tat	p.D779Y	DMD_ENST00000378677.2_Missense_Mutation_p.D775Y	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	779					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCTGGCATCTTGCAGTTTT	0.413													ENSG00000198947																																					0													99.0	80.0	87.0					X																	32519917		2202	4300	6502	SO:0001583	missense	0			-	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2335G>T	X.37:g.32519917C>A	ENSP00000354923:p.Asp779Tyr		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.D779Y	ENST00000357033.4	37	c.2335	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109785	0.77096	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.51817	0.69;0.69	5.35	5.35	0.76521	.	0.000000	0.35903	U	0.002919	T	0.66733	0.2819	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.77004	0.982;0.972;0.989	T	0.69617	-0.5097	10	0.72032	D	0.01	.	18.2209	0.89901	0.0:1.0:0.0:0.0	.	771;779;775	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	Y	771;775;779;779;656	ENSP00000367948:D775Y;ENSP00000354923:D779Y	ENSP00000354923:D779Y	D	-	1	0	DMD	32429838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.013000	0.70776	2.241000	0.73720	0.544000	0.68410	GAT	-	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	0	0	0	35	35	58	0.00	0.00	C	NM_004006		32519917	-1	8	17	4	25	tier1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	66.67	40.48	SNP	1.000	A	8	4
ATN1	1822	genome.wustl.edu	37	12	7045892	7045900	+	In_Frame_Del	DEL	CAGCAGCAG	CAGCAGCAG	-	rs377147612|rs60216939		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	CAGCAGCAG	CAGCAGCAG	CAGCAGCAG	-	CAGCAGCAG	CAGCAGCAG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr12:7045892_7045900delCAGCAGCAG	ENST00000356654.4	+	5	1699_1707	c.1462_1470delCAGCAGCAG	c.(1462-1470)cagcagcagdel	p.QQQ500del	ATN1_ENST00000396684.2_In_Frame_Del_p.QQQ500del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	500	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.Q487_Q488insQ(1)|p.Q488delQ(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						gcaacagcaacagcagcagcagcagcagc	0.636													ENSG00000111676																																					2	Insertion - In frame(1)|Deletion - In frame(1)	breast(2)							,	195,409,115,3543		7,8,0,173,9,2,381,0,113,1438					,	-3.1	0.2		dbSNP_130	89	46,26,517,7663		0,0,0,46,1,0,24,0,517,3538	no	codingComplex,codingComplex	ATN1	NM_001940.3,NM_001007026.1	,	7,8,0,219,10,2,405,0,630,4976	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		7.1377,16.87,10.4523	,	,		241,435,632,11206				SO:0001651	inframe_deletion	0				U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1462_1470delCAGCAGCAG	12.37:g.7045901_7045909delCAGCAGCAG	ENSP00000349076:p.Gln500_Gln502del		Q99495|Q99621|Q9UEK7	In_Frame_Del	DEL	pfam_Atrophin-like,prints_Atrophin-1	p.QQQ491in_frame_del	ENST00000356654.4	37	c.1462_1470	CCDS31734.1	12																																																																																				ATN1	-	pfam_Atrophin-like		0.636	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	0	0	0	18	18	18	0.00	0.00	CAGCAGCAG	NM_001940		7045900	+1	5	5	14	14	tier1	no_errors	ENST00000356654	ensembl	human	known	74_37	in_frame_del	26.32	26.32	DEL	0.834:0.709:0.730:0.772:0.719:0.700:0.962:0.955:0.948	-	5	14
NR0B1	190	genome.wustl.edu	37	X	30326646	30326646	+	Missense_Mutation	SNP	G	G	A	rs183613764		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chrX:30326646G>A	ENST00000378970.4	-	1	1069	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	NR0B1_ENST00000453287.1_Missense_Mutation_p.P279S|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	279	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGGTCCAGGGGCAGCACCTGG	0.637											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000169297	G|||	1	0.000264901	0.0008	0.0	3775	,	,		12822	0.0		0.0	False		,,,				2504	0.0																0			GRCh37	CD066384	NR0B1	D	rs183613764						16.0	11.0	12.0					X																	30326646		2174	4250	6424	SO:0001583	missense	0			GMAF=0	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.835C>T	X.37:g.30326646G>A	ENSP00000368253:p.Pro279Ser	816	Q96F69	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.P279S	ENST00000378970.4	37	c.835	CCDS14223.1	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	20.8	4.046844	0.75846	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.96522	-4.04;-4.04	5.6	4.73	0.59995	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.096374	0.64402	D	0.000001	D	0.97343	0.9131	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97704	1.0186	10	0.72032	D	0.01	-6.9654	15.5829	0.76459	0.0:0.1344:0.8656:0.0	.	279	P51843	NR0B1_HUMAN	S	279	ENSP00000368253:P279S;ENSP00000396403:P279S	ENSP00000368253:P279S	P	-	1	0	NR0B1	30236567	1.000000	0.71417	0.837000	0.33122	0.948000	0.59901	7.433000	0.80362	1.107000	0.41642	0.600000	0.82982	CCC	rs183613764	NR0B1	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.637	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	HGNC	protein_coding	OTTHUMT00000056161.1	0	0	0	48	48	15	0.00	0.00	G	NM_000475		30326646	-1	18	4	34	7	tier1	no_errors	ENST00000378970	ensembl	human	known	74_37	missense	34.62	36.36	SNP	1.000	A	18	34
WDR24	84219	genome.wustl.edu	37	16	736871	736871	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr16:736871G>A	ENST00000248142.6	-	7	1594	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	WDR24_ENST00000293883.4_Missense_Mutation_p.T402M|LA16c-313D11.12_ENST00000566927.1_RNA|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000412368.2_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	532										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				ACCTGGCTCCGTCTCAAAGAC	0.647													ENSG00000127580																																					0													17.0	18.0	18.0					16																	736871		2194	4296	6490	SO:0001583	missense	0			-	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1595C>T	16.37:g.736871G>A	ENSP00000248142:p.Thr532Met		A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T532M	ENST00000248142.6	37	c.1595		16	.	.	.	.	.	.	.	.	.	.	G	1.556	-0.538070	0.04082	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.78364	-1.17;0.24	4.38	-0.581	0.11713	.	0.419185	0.26578	N	0.023599	T	0.60418	0.2267	N	0.24115	0.695	0.30214	N	0.797429	B	0.10296	0.003	B	0.04013	0.001	T	0.52741	-0.8535	10	0.46703	T	0.11	-12.9468	9.5144	0.39095	0.1551:0.0:0.8449:0.0	.	402	Q96S15-2	.	M	532;402	ENSP00000248142:T532M;ENSP00000293883:T402M	ENSP00000248142:T532M	T	-	2	0	WDR24	676872	1.000000	0.71417	0.072000	0.20136	0.145000	0.21501	3.346000	0.52190	-0.173000	0.10761	-0.302000	0.09304	ACG	-	WDR24	-	NULL		0.647	WDR24-201	KNOWN	basic	protein_coding	WDR24	HGNC	protein_coding		0	0	0	33	33	12	0.00	0.00	G	NM_032259		736871	-1	15	5	47	8	tier1	no_errors	ENST00000248142	ensembl	human	known	74_37	missense	24.19	38.46	SNP	0.358	A	15	47
ZDHHC1	29800	genome.wustl.edu	37	16	67432540	67432540	+	Silent	SNP	G	G	A			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr16:67432540G>A	ENST00000348579.2	-	7	1091	c.750C>T	c.(748-750)ctC>ctT	p.L250L	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	250					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CCAGAAGGATGAGCAGGGCGG	0.627													ENSG00000159714																																					0													31.0	37.0	35.0					16																	67432540		2197	4300	6497	SO:0001819	synonymous_variant	0			-	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.750C>T	16.37:g.67432540G>A			O15461	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.L250	ENST00000348579.2	37	c.750	CCDS10836.1	16																																																																																			-	ZDHHC1	-	NULL		0.627	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC1	HGNC	protein_coding	OTTHUMT00000268845.1	0	0	0	30	30	16	0.00	0.00	G	NM_013304		67432540	-1	11	5	17	8	tier1	no_errors	ENST00000348579	ensembl	human	known	74_37	silent	39.29	38.46	SNP	0.998	A	11	17
GJD2	57369	genome.wustl.edu	37	15	35045372	35045372	+	Silent	SNP	A	A	G			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr15:35045372A>G	ENST00000290374.4	-	2	749	c.273T>C	c.(271-273)ctT>ctC	p.L91L	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	91					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGATGAAGCAAAGACTGGGGG	0.572													ENSG00000159248																																					0													97.0	90.0	92.0					15																	35045372		2201	4298	6499	SO:0001819	synonymous_variant	0			-	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.273T>C	15.37:g.35045372A>G			Q2M241|Q9P2R0	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36	p.L91	ENST00000290374.4	37	c.273	CCDS10040.1	15																																																																																			-	GJD2	-	pfam_Connexin_N,prints_Connexin		0.572	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD2	HGNC	protein_coding	OTTHUMT00000251875.2	0	0	0	42	42	85	0.00	0.00	A			35045372	-1	5	4	27	65	tier1	no_errors	ENST00000290374	ensembl	human	known	74_37	silent	15.62	5.80	SNP	1.000	G	5	27
MAGIX	79917	genome.wustl.edu	37	X	49022648	49022648	+	Silent	SNP	G	G	T			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chrX:49022648G>T	ENST00000412696.2	+	6	915	c.915G>T	c.(913-915)gtG>gtT	p.V305V	MAGIX_ENST00000376339.1_Silent_p.V241V|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000425661.2_Silent_p.V229V|MAGIX_ENST00000376338.3_Silent_p.V246V	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	305																	CCTGGCTAGTGCCCAGCGAGG	0.706													ENSG00000017621																																					0													4.0	5.0	4.0					X																	49022648		1691	3792	5483	SO:0001819	synonymous_variant	0			-	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.915G>T	X.37:g.49022648G>T			A6XND4|A8MSX9|B7WP26|Q14C81	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V305	ENST00000412696.2	37	c.915	CCDS48106.1	X																																																																																			-	MAGIX	-	NULL		0.706	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGIX	HGNC	protein_coding	OTTHUMT00000378832.1	0	0	0	38	38	13	0.00	0.00	G	NM_024859		49022648	+1	4	0	46	9	tier1	no_errors	ENST00000412696	ensembl	human	known	74_37	silent	8.00	0.00	SNP	0.996	T	4	46
RP11-402P6.11	0	genome.wustl.edu	37	X	70979242	70979259	+	lincRNA	DEL	GCGCGCGCGTGCACATGT	GCGCGCGCGTGCACATGT	-	rs200199869|rs200807082|rs199772875|rs367771547|rs201976710		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	GCGCGCGCGTGCACATGT	GCGCGCGCGTGCACATGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chrX:70979242_70979259delGCGCGCGCGTGCACATGT	ENST00000439926.1	-	0	440				BX276092.1_ENST00000408757.1_RNA																							acatgtgcgcgcgcgcgcgtgcacatgtgcgcgcgcgc	0.555													ENSG00000221684																																					0																																												0																																X.37:g.70979242_70979259delGCGCGCGCGTGCACATGT				R	DEL	-	NULL	ENST00000439926.1	37	NULL		X																																																																																				BX276092.1	-	-		0.555	RP11-402P6.11-001	KNOWN	basic	lincRNA	ENSG00000221684	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000057168.1	0	0	0	1	1	1	0.00	0.00	GCGCGCGCGTGCACATGT			70979259	-1	0	0	1	1	tier1	no_errors	ENST00000408757	ensembl	human	novel	74_37	rna	0.00	0.00	DEL	0.033:0.033:0.033:0.033:0.033:0.032:0.030:0.029:0.027:0.024:0.022:0.019:0.015:0.012:0.007:0.002:0.000:0.000	-	0	1
RP11-815J4.6	0	genome.wustl.edu	37	18	12076541	12076542	+	RNA	INS	-	-	CGCCGCCGCCGC	rs553400288	byFrequency	TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr18:12076541_12076542insCGCCGCCGCCGC	ENST00000591780.1	-	0	53_54																											CAGTGCCGCGGcgccgccgccg	0.797													ENSG00000256616																																					0																																												0																																18.37:g.12076541_12076542insCGCCGCCGCCGC				R	INS	-	NULL	ENST00000591780.1	37	NULL		18																																																																																				RP11-815J4.6	-	-		0.797	RP11-815J4.6-002	KNOWN	basic	processed_transcript	ENSG00000256616	Clone_based_vega_gene	pseudogene	OTTHUMT00000452539.1	0	0	0	0	0	0	0.00	0.00	-			12076542	-1	0	0	0	0	tier1	no_errors	ENST00000591780	ensembl	human	known	74_37	rna	0.00	0.00	INS	0.834:0.844	CGCCGCCGCCGC	0	0
PCDHA3	56145	genome.wustl.edu	37	5	140182991	140182991	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr5:140182991C>T	ENST00000522353.2	+	1	2209	c.2209C>T	c.(2209-2211)Ccc>Tcc	p.P737S	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P737S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	737	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGGGCAAGCCCACGCTGGT	0.647													ENSG00000255408																																					0													78.0	85.0	83.0					5																	140182991		2203	4300	6503	SO:0001583	missense	0			-	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2209C>T	5.37:g.140182991C>T	ENSP00000429808:p.Pro737Ser		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P737S	ENST00000522353.2	37	c.2209	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	c	9.384	1.073870	0.20147	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.75704	-0.96;-0.96	3.88	2.98	0.34508	.	0.000000	0.41605	U	0.000845	T	0.75649	0.3878	M	0.89214	3.015	0.09310	N	1	B;B	0.29612	0.251;0.043	B;B	0.33750	0.169;0.031	T	0.70346	-0.4897	10	0.54805	T	0.06	.	6.7557	0.23512	0.0:0.6373:0.249:0.1137	.	737;737	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	S	737	ENSP00000429808:P737S;ENSP00000434086:P737S	ENSP00000429808:P737S	P	+	1	0	PCDHA3	140163175	0.000000	0.05858	0.912000	0.35992	0.273000	0.26683	0.049000	0.14099	1.854000	0.53819	0.467000	0.42956	CCC	-	PCDHA3	-	NULL		0.647	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	0	0	0	41	41	4	0.00	0.00	C	NM_018906		140182991	+1	4	0	35	1	tier1	no_errors	ENST00000522353	ensembl	human	known	74_37	missense	10.26	0.00	SNP	0.005	T	4	35
PDXK	8566	genome.wustl.edu	37	21	45157549	45157590	+	Intron	DEL	GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC	GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC	-			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC	GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr21:45157549_45157590delGGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC	ENST00000291565.4	+	2	325				PDXK_ENST00000327574.4_3'UTR|PDXK_ENST00000468090.1_Intron|PDXK_ENST00000398081.1_3'UTR|PDXK_ENST00000476313.1_3'UTR	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase						cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GAGAAGGCCAGGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCCGGGCCAGGAG	0.723													ENSG00000160209																																					0																																										SO:0001627	intron_variant	0				U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.142+3545GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC>-	21.37:g.45157549_45157590delGGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC			Q7Z2Y0|Q9BS02	R	DEL	-	NULL	ENST00000291565.4	37	NULL	CCDS13699.1	21																																																																																				PDXK	-	-		0.723	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDXK	HGNC	protein_coding	OTTHUMT00000195636.1	0	0	0	1	1	1	0.00	0.00	GGGCCAGGAGCCTGCCGACGGACACCAGCGAGGGGCCAGGCC	NM_003681		45157590	+1	0	0	4	4	tier1	no_errors	ENST00000476313	ensembl	human	known	74_37	rna	0.00	0.00	DEL	0.002:0.002:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.001:0.000:0.001:0.002:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.002:0.003:0.003:0.004:0.003:0.003:0.001:0.000:0.001:0.000:0.000:0.000	-	0	4
TMEM191A	84222	genome.wustl.edu	37	22	21055368	21055369	+	RNA	INS	-	-	A	rs113134575|rs74469280|rs76073377	byFrequency	TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr22:21055368_21055369insA	ENST00000450925.2	+	0	0					NR_026815.1		Q9H0A3	T191A_HUMAN	transmembrane protein 191A (pseudogene)							integral component of membrane (GO:0016021)											ctctgtctcagaaaaaaaaaaa	0.47													ENSG00000226287																																					0																																												0				AL136879		22q11.21	2012-04-20	2012-04-20		ENSG00000226287	ENSG00000226287			25317	pseudogene	pseudogene			"""transmembrane protein 191A"""			11230166	Standard	NR_026815		Approved	DKFZp434N035, TMEM191AP	uc002zsx.1	Q9H0A3	OTTHUMG00000150164		22.37:g.21055379_21055379dupA			B2R8E2	R	INS	-	NULL	ENST00000450925.2	37	NULL		22																																																																																				TMEM191A	-	-		0.470	TMEM191A-001	KNOWN	basic	processed_transcript	TMEM191A	HGNC	processed_transcript	OTTHUMT00000316649.1	0	0	0	13	13	0	0.00	0.00	-			21055369	+1	2	0	7	0	tier1	no_errors	ENST00000359859	ensembl	human	known	74_37	rna	22.22	0.00	INS	0.006:0.005	A	2	7
NR1D2	9975	genome.wustl.edu	37	3	24009400	24009426	+	In_Frame_Del	DEL	ATGGGAGCAGGGGATCTGCTAAACTCT	ATGGGAGCAGGGGATCTGCTAAACTCT	-	rs369670854|rs150332369		TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	ATGGGAGCAGGGGATCTGCTAAACTCT	ATGGGAGCAGGGGATCTGCTAAACTCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr3:24009400_24009426delATGGGAGCAGGGGATCTGCTAAACTCT	ENST00000312521.4	+	7	1748_1774	c.1429_1455delATGGGAGCAGGGGATCTGCTAAACTCT	c.(1429-1455)atgggagcaggggatctgctaaactctdel	p.MGAGDLLNS477del	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	477	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G478fs*6(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TTTACACTCAATGGGAGCAGGGGATCTGCTAAACTCTATGTTTGAAT	0.405													ENSG00000174738																																					1	Deletion - Frameshift(1)	prostate(1)																																								SO:0001651	inframe_deletion	0				BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1429_1455delATGGGAGCAGGGGATCTGCTAAACTCT	3.37:g.24009400_24009426delATGGGAGCAGGGGATCTGCTAAACTCT	ENSP00000310006:p.Met477_Ser485del		B2R8Q3|O00402|Q86XD4	In_Frame_Del	DEL	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.GAGDLLNSM478in_frame_del	ENST00000312521.4	37	c.1429_1455	CCDS33718.1	3																																																																																				NR1D2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.405	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	HGNC	protein_coding	OTTHUMT00000341017.3	0	0	0	135	135	135	0.00	0.00	ATGGGAGCAGGGGATCTGCTAAACTCT			24009426	+1	2	2	104	104	tier1	no_errors	ENST00000312521	ensembl	human	known	74_37	in_frame_del	1.89	1.89	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.919:1.000:1.000:0.089:1.000:1.000:0.973:1.000:1.000:0.998:1.000:1.000:0.963:1.000:1.000:1.000:1.000:1.000:0.903	-	2	104
MUC4	4585	genome.wustl.edu	37	3	195512406	195512406	+	Silent	SNP	G	G	T			TCGA-DX-A8BO-01A-11D-A417-09	TCGA-DX-A8BO-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7451845d-6c6f-44fe-adb1-38fc5e9a3792	97a5fef7-598e-4438-b671-e66791a6de2d	g.chr3:195512406G>T	ENST00000463781.3	-	2	6504	c.6045C>A	c.(6043-6045)acC>acA	p.T2015T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2015T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGGAAGAGGGGTGGCCTGTC	0.597													ENSG00000145113																																					0													34.0	35.0	35.0					3																	195512406		680	1583	2263	SO:0001819	synonymous_variant	0			-	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6045C>A	3.37:g.195512406G>T			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.T2015	ENST00000463781.3	37	c.6045	CCDS54700.1	3																																																																																			-	MUC4	-	NULL		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	0	0	0	123	123	49	0.00	0.00	G	NM_018406		195512406	-1	27	2	119	21	tier1	no_errors	ENST00000463781	ensembl	human	known	74_37	silent	18.49	8.70	SNP	0.008	T	27	119
