#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
ACBD6	84320	genome.wustl.edu	37	1	180471380	180471380	+	Missense_Mutation	SNP	C	C	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:180471380C>T	ENST00000367595.3	-	1	709	c.22G>A	c.(22-24)Gcg>Acg	p.A8T		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	8						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						ATGGCCCCCGCGGGCAGGAAT	0.647													ENSG00000135847																																					0													29.0	33.0	31.0					1																	180471380		2203	4300	6503	SO:0001583	missense	0			-	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.22G>A	1.37:g.180471380C>T	ENSP00000356567:p.Ala8Thr			Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl-CoA-binding_protein,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Acyl-CoA-binding_protein,prints_Ankyrin_rpt	p.A8T	ENST00000367595.3	37	c.22	CCDS1339.1	1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.757146	0.31137	.	.	ENSG00000135847	ENST00000367595	T	0.48836	0.8	4.79	-7.3	0.01446	.	0.501140	0.21459	N	0.074185	T	0.18045	0.0433	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06267	-1.0836	10	0.26408	T	0.33	1.2834	3.0108	0.06044	0.3694:0.3812:0.0854:0.164	.	8	Q9BR61	ACBD6_HUMAN	T	8	ENSP00000356567:A8T	ENSP00000356567:A8T	A	-	1	0	ACBD6	178738003	0.006000	0.16342	0.275000	0.24674	0.759000	0.43091	-0.766000	0.04725	-0.904000	0.03876	0.313000	0.20887	GCG	-	ACBD6	-	NULL		0.647	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACBD6	HGNC	protein_coding	OTTHUMT00000084998.1	0	0	0	42	42	71	0.00	0.00	C	NM_032360		180471380	-1	4	10	24	34	tier1	no_errors	ENST00000367595	ensembl	human	known	74_37	missense	14.29	22.73	SNP	0.002	T	4	24
LRRK2	120892	genome.wustl.edu	37	12	40692941	40692941	+	Silent	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:40692941G>A	ENST00000298910.7	+	25	3436	c.3378G>A	c.(3376-3378)ttG>ttA	p.L1126L	LRRK2_ENST00000343742.2_Silent_p.L1126L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1126					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCTCCCCCTTGAGACTGAAGG	0.333													ENSG00000188906																																					0													116.0	125.0	122.0					12																	40692941		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3378G>A	12.37:g.40692941G>A			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.L1126	ENST00000298910.7	37	c.3378	CCDS31774.1	12																																																																																			-	LRRK2	-	NULL		0.333	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	0	0	0	83	83	194	0.00	0.00	G	XM_058513		40692941	+1	20	19	116	150	tier1	no_errors	ENST00000298910	ensembl	human	known	74_37	silent	14.71	11.24	SNP	0.879	A	20	116
DMD	1756	genome.wustl.edu	37	X	31200986	31200986	+	Missense_Mutation	SNP	G	G	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chrX:31200986G>T	ENST00000357033.4	-	68	10049	c.9843C>A	c.(9841-9843)ttC>ttA	p.F3281L	DMD_ENST00000474231.1_Missense_Mutation_p.F821L|DMD_ENST00000378707.3_Missense_Mutation_p.F821L|DMD_ENST00000541735.1_Missense_Mutation_p.F821L|DMD_ENST00000359836.1_Missense_Mutation_p.F821L|DMD_ENST00000378723.3_Missense_Mutation_p.F213L|DMD_ENST00000361471.4_Missense_Mutation_p.F213L|DMD_ENST00000378702.4_Missense_Mutation_p.F213L|DMD_ENST00000378680.2_Missense_Mutation_p.F213L|DMD_ENST00000343523.2_Missense_Mutation_p.F821L|DMD_ENST00000378677.2_Missense_Mutation_p.F3277L	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	3281	Interaction with SYNM. {ECO:0000250}.				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)				TCCAGTCTAGGAAGAGGGCCG	0.527													ENSG00000198947																																					0													88.0	66.0	74.0					X																	31200986		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.9843C>A	X.37:g.31200986G>T	ENSP00000354923:p.Phe3281Leu		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.F3281L	ENST00000357033.4	37	c.9843	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.257089|4.257089	0.80246|0.80246	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705|ENST00000465285	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.81247|.	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47|.	5.41|5.41	3.64|3.64	0.41730|0.41730	EF-hand domain, type 2 (1);|.	0.000000|.	0.39020|.	U|.	0.001495|.	T|T	0.78432|0.78432	0.4282|0.4282	M|M	0.92880|0.92880	3.355|3.355	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.989;0.983;0.998;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.987;1.0;1.0;0.998|.	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.975;0.94;0.994;0.996;0.996;0.996;0.999;0.999;0.999;0.997;0.995;0.996;0.971;1.0;0.999;0.994|.	T|T	0.78823|0.78823	-0.2052|-0.2052	10|5	0.87932|.	D|.	0|.	.|.	7.6949|7.6949	0.28590|0.28590	0.3273:0.0:0.6727:0.0|0.3273:0.0:0.6727:0.0	.|.	213;3273;3281;3277;1940;1937;821;821;821;821;821;3158;213;213;213;213|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	L|T	3273;1940;1937;213;977;3277;3281;821;821;3281;3158;821;821;213;821;213;213;71|1010	ENSP00000367997:F213L;ENSP00000350765:F977L;ENSP00000367948:F3277L;ENSP00000354923:F3281L;ENSP00000352894:F821L;ENSP00000340057:F821L;ENSP00000367979:F821L;ENSP00000444119:F821L;ENSP00000367974:F213L;ENSP00000417123:F821L;ENSP00000354464:F213L;ENSP00000367951:F213L;ENSP00000367977:F71L|.	ENSP00000340057:F821L|.	F|P	-|-	3|1	2|0	DMD|DMD	31110907|31110907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.009000|2.009000	0.40903|0.40903	0.639000|0.639000	0.30564|0.30564	0.600000|0.600000	0.82982|0.82982	TTC|CCT	-	DMD	-	pfam_EF-hand_dom_typ2,pirsf_Dystrophin/utrophin		0.527	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	0	0	0	71	71	101	0.00	0.00	G	NM_004006		31200986	-1	34	29	54	49	tier1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	38.64	36.71	SNP	1.000	T	34	54
COLEC12	81035	genome.wustl.edu	37	18	346619	346619	+	Missense_Mutation	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr18:346619G>A	ENST00000400256.3	-	5	1210	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	335					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGCTGGAAGCGTTCCTCCAGT	0.468													ENSG00000158270																																					0													165.0	133.0	144.0					18																	346619		2203	4300	6503	SO:0001583	missense	0			-	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1003C>T	18.37:g.346619G>A	ENSP00000383115:p.Arg335Cys		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.R335C	ENST00000400256.3	37	c.1003	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580056	0.46006	.	.	ENSG00000158270	ENST00000400256	T	0.80994	-1.44	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.83852	0.5344	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	P	0.61275	0.886	D	0.85102	0.0958	10	0.87932	D	0	-9.732	15.8302	0.78743	0.0:0.0:0.8561:0.1439	.	335	Q5KU26	COL12_HUMAN	C	335	ENSP00000383115:R335C	ENSP00000383115:R335C	R	-	1	0	COLEC12	336619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.113000	0.71553	2.778000	0.95560	0.655000	0.94253	CGC	-	COLEC12	-	NULL		0.468	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	0	0	0	108	108	188	0.00	0.00	G			346619	-1	23	28	195	160	tier1	no_errors	ENST00000400256	ensembl	human	known	74_37	missense	10.55	14.89	SNP	1.000	A	23	195
PRDM7	11105	genome.wustl.edu	37	16	90161117	90161117	+	5'Flank	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr16:90161117G>A	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000564451.1_RNA|TUBB8P7_ENST00000567960.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AACGCTCCAAGGTCATCCTGT	0.607													ENSG00000261812																																					0																																										SO:0001631	upstream_gene_variant	0			-	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90161117G>A	Exception_encountered		A4Q9G8|Q08EM4|Q9NQW4	R	SNP	-	NULL	ENST00000569206.1	37	NULL		16																																																																																			-	TUBB8P7	-	-		0.607	PRDM7-009	KNOWN	basic	processed_transcript	TUBB8P7	HGNC	protein_coding	OTTHUMT00000420855.1	0	0	0	135	135	33	0.00	0.00	G			90161117	+1	26	5	77	11	tier1	no_errors	ENST00000563927	ensembl	human	known	74_37	rna	25.24	31.25	SNP	0.849	A	26	77
COL4A5	1287	genome.wustl.edu	37	X	107924118	107924118	+	Missense_Mutation	SNP	T	T	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chrX:107924118T>A	ENST00000361603.2	+	44	4245	c.4001T>A	c.(4000-4002)aTg>aAg	p.M1334K	COL4A5_ENST00000328300.6_Missense_Mutation_p.M1340K	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1334	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGTGCAGGCATGAAAGGACCC	0.478									Alport syndrome with Diffuse Leiomyomatosis				ENSG00000188153																																					0													141.0	128.0	132.0					X																	107924118		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database		-	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4001T>A	X.37:g.107924118T>A	ENSP00000354505:p.Met1334Lys		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.M1340K	ENST00000361603.2	37	c.4019	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	T	2.787	-0.252200	0.05829	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94000	-3.33;-3.21	5.19	5.19	0.71726	.	0.153282	0.64402	D	0.000012	D	0.85457	0.5701	N	0.11313	0.125	0.38896	D	0.957223	B;B	0.30889	0.299;0.165	B;B	0.35859	0.212;0.064	T	0.82694	-0.0330	10	0.07030	T	0.85	.	14.1569	0.65424	0.0:0.0:0.0:1.0	.	1337;1334	E7EVY4;P29400	.;CO4A5_HUMAN	K	1340;1334;1340	ENSP00000331902:M1340K;ENSP00000354505:M1334K	ENSP00000331902:M1340K	M	+	2	0	COL4A5	107810774	1.000000	0.71417	0.997000	0.53966	0.586000	0.36452	3.408000	0.52651	1.721000	0.51461	0.350000	0.21858	ATG	-	COL4A5	-	pfam_Collagen		0.478	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	0	0	0	156	156	194	0.00	0.00	T			107924118	+1	55	19	108	73	tier1	no_errors	ENST00000328300	ensembl	human	known	74_37	missense	33.74	20.43	SNP	0.999	A	55	108
CNOT1	23019	genome.wustl.edu	37	16	58568140	58568140	+	Silent	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr16:58568140G>A	ENST00000317147.5	-	40	6138	c.5806C>T	c.(5806-5808)Ctg>Ttg	p.L1936L	CNOT1_ENST00000569240.1_Silent_p.L1931L|CNOT1_ENST00000245138.4_Silent_p.L787L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1936				L -> P (in Ref. 1; CAH18093). {ECO:0000305}.	gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGGCATCCAGGTTGTGATAG	0.493													ENSG00000125107																																					0													185.0	137.0	153.0					16																	58568140		2198	4300	6498	SO:0001819	synonymous_variant	0			-	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5806C>T	16.37:g.58568140G>A			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.L1936	ENST00000317147.5	37	c.5806	CCDS10799.1	16																																																																																			-	CNOT1	-	NULL		0.493	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	0	0	0	95	95	150	0.00	0.00	G	NM_016284		58568140	-1	7	8	70	58	tier1	no_errors	ENST00000317147	ensembl	human	known	74_37	silent	9.09	12.12	SNP	1.000	A	7	70
XKR6	286046	genome.wustl.edu	37	8	10986462	10986462	+	Intron	SNP	A	A	C			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr8:10986462A>C	ENST00000416569.2	-	1	791				AF131215.5_ENST00000400102.3_Missense_Mutation_p.L31R|AF131215.3_ENST00000500944.2_RNA	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6							integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		gcagccagaaagtctttttTT	0.383													ENSG00000215346																																					0																																										SO:0001627	intron_variant	0			-	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.764+71622T>G	8.37:g.10986462A>C			Q8TBA0	Missense_Mutation	SNP	NULL	p.L31R	ENST00000416569.2	37	c.92	CCDS5978.2	8	.	.	.	.	.	.	.	.	.	.	A	6.031	0.374165	0.11409	.	.	ENSG00000215346	ENST00000400102	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	T	0.39655	0.1086	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39143	-0.9628	4	0.87932	D	0	.	.	.	.	.	.	.	.	R	31	.	ENSP00000382973:L31R	L	-	2	0	AF131215.1	11023872	0.044000	0.20184	0.029000	0.17559	0.099000	0.18886	0.539000	0.23175	0.263000	0.21812	0.260000	0.18958	CTT	-	AF131215.5	-	NULL		0.383	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000215346	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000383958.1	0	0	0	49	49	108	0.00	0.00	A	NM_173683		10986462	-1	9	18	34	48	tier1	no_errors	ENST00000400102	ensembl	human	novel	74_37	missense	20.93	27.27	SNP	0.036	C	9	34
PHB2	11331	genome.wustl.edu	37	12	7077684	7077684	+	Missense_Mutation	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:7077684G>A	ENST00000535923.1	-	4	648	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	PHB2_ENST00000399433.2_Missense_Mutation_p.R123C|PHB2_ENST00000546111.1_Intron|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000440277.1_Missense_Mutation_p.R123C|PHB2_ENST00000542912.1_Missense_Mutation_p.R123C|EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000544134.1_5'UTR	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						AGCCCTAGGCGCTGGTACATG	0.547													ENSG00000215021																																					0													83.0	82.0	83.0					12																	7077684		2079	4210	6289	SO:0001583	missense	0			-	AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.367C>T	12.37:g.7077684G>A	ENSP00000441875:p.Arg123Cys			Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Prohibitin	p.R123C	ENST00000535923.1	37	c.367	CCDS53741.1	12	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587386	0.86851	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167;ENST00000536316	D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.31	4.42	0.53409	.	0.074322	0.56097	U	0.000028	D	0.94483	0.8224	L	0.31926	0.97	0.80722	D	1	P;D;D	0.76494	0.944;0.998;0.999	P;P;P	0.61658	0.86;0.892;0.892	D	0.94974	0.8119	10	0.72032	D	0.01	-7.2573	14.2285	0.65875	0.0721:0.0:0.9279:0.0	.	123;123;123	B4DW05;B4DP75;Q99623	.;.;PHB2_HUMAN	C	123;123;123;123;159;134	ENSP00000441875:R123C;ENSP00000440317:R123C;ENSP00000382362:R123C;ENSP00000412856:R123C;ENSP00000441662:R159C;ENSP00000439029:R134C	ENSP00000382362:R123C	R	-	1	0	PHB2	6947945	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.813000	0.99286	1.378000	0.46305	-0.136000	0.14681	CGC	-	PHB2	-	pfam_Band_7,smart_Band_7		0.547	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHB2	HGNC	protein_coding	OTTHUMT00000400040.3	0	0	1	61	61	131	0.00	0.75	G	NM_007273		7077684	-1	16	11	75	69	tier1	no_errors	ENST00000399433	ensembl	human	known	74_37	missense	17.58	13.75	SNP	1.000	A	16	75
BDH2	56898	genome.wustl.edu	37	4	104003299	104003299	+	Missense_Mutation	SNP	G	G	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr4:104003299G>T	ENST00000296424.4	-	9	743	c.623C>A	c.(622-624)aCg>aAg	p.T208K		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	208					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.T208M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GAATCTTCCCGTCTTTTGTCT	0.453													ENSG00000164039																																					1	Substitution - Missense(1)	endometrium(1)											137.0	120.0	126.0					4																	104003299		2203	4300	6503	SO:0001583	missense	0			-	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.623C>A	4.37:g.104003299G>T	ENSP00000296424:p.Thr208Lys		A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.T208K	ENST00000296424.4	37	c.623	CCDS3663.1	4	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777518	0.49786	.	.	ENSG00000164039	ENST00000296424	T	0.42513	0.97	5.03	3.31	0.37934	NAD(P)-binding domain (1);	0.093880	0.64402	D	0.000001	T	0.31575	0.0801	L	0.38733	1.17	0.46586	D	0.999118	B	0.28783	0.222	B	0.22152	0.038	T	0.13202	-1.0518	10	0.87932	D	0	.	10.9321	0.47224	0.1567:0.0:0.8433:0.0	.	208	Q9BUT1	BDH2_HUMAN	K	208	ENSP00000296424:T208K	ENSP00000296424:T208K	T	-	2	0	BDH2	104222748	0.995000	0.38212	0.787000	0.31911	0.842000	0.47809	2.227000	0.42972	0.635000	0.30488	-0.137000	0.14449	ACG	-	BDH2	-	prints_Glc/ribitol_DH		0.453	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH2	HGNC	protein_coding	OTTHUMT00000157159.2	0	0	0	61	61	106	0.00	0.00	G	NM_020139		104003299	-1	33	13	31	28	tier1	no_errors	ENST00000296424	ensembl	human	known	74_37	missense	51.56	31.71	SNP	0.949	T	33	31
VAX1	11023	genome.wustl.edu	37	10	118897354	118897354	+	Missense_Mutation	SNP	C	C	A	rs143954756	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr10:118897354C>A	ENST00000369206.5	-	1	213	c.214G>T	c.(214-216)Gat>Tat	p.D72Y	VAX1_ENST00000277905.2_Missense_Mutation_p.D72Y	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	72					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CGGCAGTAATCCGGGTCCGCT	0.667													ENSG00000148704																																					0													25.0	31.0	29.0					10																	118897354		2203	4299	6502	SO:0001583	missense	0			-	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.214G>T	10.37:g.118897354C>A	ENSP00000358207:p.Asp72Tyr		B1AVW5|Q6ZSX0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.D72Y	ENST00000369206.5	37	c.214	CCDS44483.1	10	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098892	0.37048	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.92495	-2.33;-3.05	3.87	3.87	0.44632	.	0.118101	0.56097	D	0.000033	D	0.94404	0.8200	L	0.57536	1.79	0.54753	D	0.999989	D;D	0.89917	0.999;1.0	D;D	0.87578	0.993;0.998	D	0.93590	0.6920	10	0.37606	T	0.19	-9.0901	13.9936	0.64382	0.0:1.0:0.0:0.0	.	72;72	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	Y	72	ENSP00000277905:D72Y;ENSP00000358207:D72Y	ENSP00000277905:D72Y	D	-	1	0	VAX1	118887344	1.000000	0.71417	0.996000	0.52242	0.831000	0.47069	6.595000	0.74109	1.696000	0.51158	0.305000	0.20034	GAT	-	VAX1	-	NULL		0.667	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VAX1	HGNC	protein_coding	OTTHUMT00000050559.3	0	0	0	47	47	51	0.00	0.00	C	XM_301242		118897354	-1	23	10	32	12	tier1	no_errors	ENST00000369206	ensembl	human	known	74_37	missense	41.82	45.45	SNP	1.000	A	23	32
ADCY7	113	genome.wustl.edu	37	16	50342240	50342240	+	Missense_Mutation	SNP	C	C	T	rs148155774	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr16:50342240C>T	ENST00000394697.2	+	16	2193	c.1853C>T	c.(1852-1854)aCg>aTg	p.T618M	ADCY7_ENST00000538642.1_Missense_Mutation_p.T618M|ADCY7_ENST00000254235.3_Missense_Mutation_p.T618M|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.T618M			P51828	ADCY7_HUMAN	adenylate cyclase 7	618					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.T618M(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CTCTCCAGGACGGCGGCACTG	0.647													ENSG00000121281																																					1	Substitution - Missense(1)	stomach(1)						C	MET/THR	2,4394	4.2+/-10.8	0,2,2196	107.0	97.0	101.0		1853	-8.7	0.0	16	dbSNP_134	101	0,8600		0,0,4300	yes	missense	ADCY7	NM_001114.3	81	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	benign	618/1081	50342240	2,12994	2198	4300	6498	SO:0001583	missense	0			-	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1853C>T	16.37:g.50342240C>T	ENSP00000378187:p.Thr618Met		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.T618M	ENST00000394697.2	37	c.1853	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	C	9.766	1.171413	0.21621	4.55E-4	0.0	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;D;D	0.82255	0.96;-1.59;-1.59	4.66	-8.7	0.00851	.	0.304362	0.22680	N	0.056946	T	0.55449	0.1921	N	0.11427	0.14	0.26445	N	0.975709	B;B	0.22541	0.071;0.055	B;B	0.23018	0.028;0.043	T	0.47114	-0.9142	10	0.27785	T	0.31	.	5.4786	0.16710	0.0938:0.5624:0.0944:0.2495	.	618;618	P51828;F5H4D1	ADCY7_HUMAN;.	M	618	ENSP00000445046:T618M;ENSP00000378187:T618M;ENSP00000254235:T618M	ENSP00000254235:T618M	T	+	2	0	ADCY7	48899741	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.317000	0.02707	-1.611000	0.01581	-0.266000	0.10368	ACG	rs148155774	ADCY7	-	NULL		0.647	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	0	0	0	60	60	94	0.00	0.00	C			50342240	+1	11	6	59	47	tier1	no_errors	ENST00000254235	ensembl	human	known	74_37	missense	15.71	11.32	SNP	0.000	T	11	59
TMEM117	84216	genome.wustl.edu	37	12	44783026	44783026	+	3'UTR	SNP	A	A	G			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:44783026A>G	ENST00000266534.3	+	0	2243				TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AAATATAAATACAGATGCAAA	0.383													ENSG00000139173																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.*571A>G	12.37:g.44783026A>G				R	SNP	-	NULL	ENST00000266534.3	37	NULL	CCDS8745.1	12																																																																																			-	TMEM117	-	-		0.383	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	0	0	0	35	35	159	0.00	0.00	A	NM_032256		44783026	+1	14	37	31	67	tier1	no_errors	ENST00000546978	ensembl	human	known	74_37	rna	31.11	35.24	SNP	0.874	G	14	31
RASGRF1	5923	genome.wustl.edu	37	15	79277345	79277345	+	Intron	SNP	G	G	A	rs202089658		TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr15:79277345G>A	ENST00000419573.3	-	24	3737				RASGRF1_ENST00000394745.3_Intron|RASGRF1_ENST00000558480.2_Intron|RASGRF1_ENST00000560334.1_Intron|RP11-16K12.1_ENST00000316148.4_RNA	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1						activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCCTGCCCGCACCTGCTTA	0.597													ENSG00000177699																																					0								G	,,	1,4391	2.1+/-5.4	0,1,2195	66.0	52.0	57.0		,,	0.2	0.4	15		57	2,8584	2.2+/-6.3	0,2,4291	no	intron,intron,intron	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	,,	0,3,6486	AA,AG,GG		0.0233,0.0228,0.0231	,,	,,	79277345	3,12975	2196	4293	6489	SO:0001627	intron_variant	0			-	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3462+3C>T	15.37:g.79277345G>A			F8VPA5|H0YKF2|J3KQP9|Q16027	R	SNP	-	NULL	ENST00000419573.3	37	NULL	CCDS10309.1	15																																																																																			rs202089658	RP11-16K12.1	-	-		0.597	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000177699	Clone_based_vega_gene	protein_coding	OTTHUMT00000291371.3	0	0	0	44	44	31	0.00	0.00	G	NM_002891		79277345	+1	11	4	44	30	tier1	no_errors	ENST00000316148	ensembl	human	known	74_37	rna	20.00	11.76	SNP	0.073	A	11	44
WDR27	253769	genome.wustl.edu	37	6	170070759	170070759	+	Missense_Mutation	SNP	G	G	A	rs201671423	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr6:170070759G>A	ENST00000448612.1	-	4	471	c.362C>T	c.(361-363)tCg>tTg	p.S121L	WDR27_ENST00000420344.2_Missense_Mutation_p.S121L|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000333572.6_Missense_Mutation_p.S121L	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	121						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TCCCAAAAGCGAGCCCATGAC	0.443													ENSG00000184465	G|||	2	0.000399361	0.0	0.0	5008	,	,		17480	0.0		0.0	False		,,,				2504	0.002																0													128.0	126.0	127.0					6																	170070759		1929	4154	6083	SO:0001583	missense	0			-	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.362C>T	6.37:g.170070759G>A	ENSP00000416289:p.Ser121Leu		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S121L	ENST00000448612.1	37	c.362	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693750	0.30052	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000420344	T;T;T	0.70749	1.07;2.18;-0.51	5.52	4.65	0.58169	.	0.214503	0.37669	N	0.002000	T	0.40398	0.1115	L	0.43152	1.355	0.26027	N	0.981797	P;P	0.52692	0.913;0.955	B;B	0.31337	0.089;0.128	T	0.36089	-0.9762	10	0.56958	D	0.05	-13.1103	13.1852	0.59677	0.0782:0.0:0.9217:0.0	.	121;121	F2Z2U5;C9JGV0	.;.	L	121	ENSP00000416289:S121L;ENSP00000330265:S121L;ENSP00000406114:S121L	ENSP00000330265:S121L	S	-	2	0	WDR27	169812684	0.987000	0.35691	0.058000	0.19502	0.009000	0.06853	4.115000	0.57865	1.324000	0.45282	-0.339000	0.08088	TCG	-	WDR27	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.443	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1	0	0	0	74	74	225	0.00	0.00	G	NM_182552		170070759	-1	19	24	65	83	tier1	no_errors	ENST00000448612	ensembl	human	known	74_37	missense	22.62	22.43	SNP	0.787	A	19	65
LRRC8C	84230	genome.wustl.edu	37	1	90180397	90180397	+	Nonsense_Mutation	SNP	C	C	G			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:90180397C>G	ENST00000370454.4	+	3	2523	c.2268C>G	c.(2266-2268)taC>taG	p.Y756*	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	756					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTCTTTCCTACTTAGATGTAA	0.393													ENSG00000171488																																					0													80.0	82.0	81.0					1																	90180397		2203	4300	6503	SO:0001587	stop_gained	0			-		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2268C>G	1.37:g.90180397C>G	ENSP00000359483:p.Tyr756*		B3KXS9|Q29RV6|Q9H075	Nonsense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Y756*	ENST00000370454.4	37	c.2268	CCDS725.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.149310	0.97324	.	.	ENSG00000171488	ENST00000370454	.	.	.	5.87	-2.66	0.06077	.	0.307495	0.36703	N	0.002450	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.468	0.55771	0.0:0.4346:0.0:0.5654	.	.	.	.	X	756	.	ENSP00000359483:Y756X	Y	+	3	2	LRRC8C	89952985	0.055000	0.20627	0.977000	0.42913	0.925000	0.55904	-0.588000	0.05774	-0.409000	0.07553	0.655000	0.94253	TAC	-	LRRC8C	-	smart_Leu-rich_rpt_typical-subtyp		0.393	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8C	HGNC	protein_coding	OTTHUMT00000028435.2	0	0	0	42	42	140	0.00	0.00	C	NM_032270		90180397	+1	14	35	26	52	tier1	no_errors	ENST00000370454	ensembl	human	known	74_37	nonsense	35.00	39.77	SNP	0.969	G	14	26
HEPHL1	341208	genome.wustl.edu	37	11	93806290	93806290	+	Silent	SNP	A	A	G			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr11:93806290A>G	ENST00000315765.9	+	7	1340	c.1332A>G	c.(1330-1332)agA>agG	p.R444R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	444	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTACTAAAAGAAAGAGACTCT	0.428													ENSG00000181333																																					0													90.0	83.0	85.0					11																	93806290		1837	4086	5923	SO:0001819	synonymous_variant	0			-	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1332A>G	11.37:g.93806290A>G			Q3C1W7	Silent	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.R444	ENST00000315765.9	37	c.1332	CCDS44710.1	11																																																																																			-	HEPHL1	-	superfamily_Cupredoxin		0.428	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2	0	0	0	43	43	150	0.00	0.00	A	XM_291947		93806290	+1	6	21	32	51	tier1	no_errors	ENST00000315765	ensembl	human	known	74_37	silent	15.79	29.17	SNP	0.120	G	6	32
B3GALNT2	148789	genome.wustl.edu	37	1	235643459	235643459	+	Missense_Mutation	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:235643459G>A	ENST00000366600.3	-	5	790	c.562C>T	c.(562-564)Ctc>Ttc	p.L188F	B3GALNT2_ENST00000313984.3_Missense_Mutation_p.L229F|B3GALNT2_ENST00000494378.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	188					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GCAATGAAGAGGGCCTCCTAC	0.428													ENSG00000162885																																					0													84.0	77.0	80.0					1																	235643459		2203	4300	6503	SO:0001583	missense	0			-	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.562C>T	1.37:g.235643459G>A	ENSP00000355559:p.Leu188Phe		Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.L188F	ENST00000366600.3	37	c.562	CCDS1606.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468240	0.84533	.	.	ENSG00000162885	ENST00000366599;ENST00000366600;ENST00000313984	T;T	0.64991	-0.13;1.04	6.02	6.02	0.97574	.	0.055808	0.64402	D	0.000001	T	0.79747	0.4499	M	0.77616	2.38	0.41763	D	0.989729	D;D	0.76494	0.999;0.975	D;P	0.72982	0.979;0.721	T	0.81013	-0.1125	10	0.66056	D	0.02	-21.7582	16.763	0.85517	0.0:0.0:0.8705:0.1295	.	229;188	Q8NCR0-2;Q8NCR0	.;B3GL2_HUMAN	F	229;188;229	ENSP00000355559:L188F;ENSP00000315678:L229F	ENSP00000315678:L229F	L	-	1	0	B3GALNT2	233710082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.222000	0.51223	2.850000	0.98022	0.650000	0.86243	CTC	-	B3GALNT2	-	NULL		0.428	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALNT2	HGNC	protein_coding	OTTHUMT00000097376.1	0	0	0	77	77	191	0.00	0.00	G	NM_152490		235643459	-1	28	21	75	87	tier1	no_errors	ENST00000366600	ensembl	human	known	74_37	missense	27.18	19.44	SNP	1.000	A	28	75
LRRK2	120892	genome.wustl.edu	37	12	40693045	40693045	+	Missense_Mutation	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:40693045G>A	ENST00000298910.7	+	25	3540	c.3482G>A	c.(3481-3483)aGa>aAa	p.R1161K	LRRK2_ENST00000343742.2_Missense_Mutation_p.R1161K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1161					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCAGTGCCAGAATGAATTTT	0.408													ENSG00000188906																																					0													169.0	179.0	175.0					12																	40693045		2203	4300	6503	SO:0001583	missense	0			-	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3482G>A	12.37:g.40693045G>A	ENSP00000298910:p.Arg1161Lys		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.R1161K	ENST00000298910.7	37	c.3482	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250404	0.39797	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.25085	2.21;1.82	5.12	4.23	0.50019	.	0.194250	0.43260	N	0.000600	T	0.14657	0.0354	N	0.21240	0.645	0.25307	N	0.989239	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.26573	-1.0099	10	0.11794	T	0.64	.	9.3216	0.37968	0.0768:0.1444:0.7788:0.0	.	1161;1161	E9PC85;Q5S007	.;LRRK2_HUMAN	K	1161	ENSP00000341930:R1161K;ENSP00000298910:R1161K	ENSP00000298910:R1161K	R	+	2	0	LRRK2	38979312	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	3.609000	0.54117	1.142000	0.42291	0.313000	0.20887	AGA	-	LRRK2	-	NULL		0.408	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	0	0	0	117	117	285	0.00	0.00	G	XM_058513		40693045	+1	19	42	119	183	tier1	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	13.77	18.67	SNP	0.998	A	19	119
SETD1B	23067	genome.wustl.edu	37	12	122247688	122247688	+	Silent	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:122247688G>A	ENST00000604567.1	+	6	905	c.837G>A	c.(835-837)ctG>ctA	p.L279L	SETD1B_ENST00000542440.1_Silent_p.L279L|SETD1B_ENST00000267197.5_Silent_p.L279L			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	279					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						CACCGCGCCTGGGCACCCCTT	0.642													ENSG00000139718																																					0													62.0	69.0	67.0					12																	122247688		692	1591	2283	SO:0001819	synonymous_variant	0			-	AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.837G>A	12.37:g.122247688G>A			F6MFW1	Silent	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.L279	ENST00000604567.1	37	c.837		12																																																																																			-	SETD1B	-	NULL		0.642	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1	0	0	0	151	151	111	0.00	0.00	G	XM_037523		122247688	+1	30	15	139	75	tier1	no_errors	ENST00000267197	ensembl	human	known	74_37	silent	17.65	16.67	SNP	1.000	A	30	139
CHD7	55636	genome.wustl.edu	37	8	61654811	61654811	+	Missense_Mutation	SNP	A	A	G			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr8:61654811A>G	ENST00000423902.2	+	2	1299	c.820A>G	c.(820-822)Aga>Gga	p.R274G	CHD7_ENST00000525508.1_Missense_Mutation_p.R274G|CHD7_ENST00000524602.1_Missense_Mutation_p.R274G	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	274					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCACAGTCCCAGATTCTCCCC	0.557													ENSG00000171316																																					0													105.0	106.0	105.0					8																	61654811		1982	4156	6138	SO:0001583	missense	0			-	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.820A>G	8.37:g.61654811A>G	ENSP00000392028:p.Arg274Gly		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R274G	ENST00000423902.2	37	c.820	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447330	0.25987	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	D;T;T	0.81739	-1.53;1.98;-1.14	5.09	2.57	0.30868	.	0.000000	0.46758	D	0.000273	T	0.52613	0.1745	N	0.03608	-0.345	0.37139	D	0.901632	P	0.43477	0.808	B	0.30943	0.122	T	0.59209	-0.7497	10	0.27785	T	0.31	-13.2456	12.0981	0.53767	0.5566:0.4434:0.0:0.0	.	274	Q9P2D1	CHD7_HUMAN	G	274	ENSP00000392028:R274G;ENSP00000437061:R274G;ENSP00000436027:R274G	ENSP00000307304:R274G	R	+	1	2	CHD7	61817365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.799000	0.47892	0.794000	0.33899	0.533000	0.62120	AGA	-	CHD7	-	NULL		0.557	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	0	0	0	33	33	207	0.00	0.00	A	XM_098762		61654811	+1	10	22	85	136	tier1	no_errors	ENST00000423902	ensembl	human	known	74_37	missense	10.53	13.92	SNP	1.000	G	10	85
ZNF479	90827	genome.wustl.edu	37	7	57188073	57188073	+	Missense_Mutation	SNP	T	T	C			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr7:57188073T>C	ENST00000331162.4	-	5	1319	c.1049A>G	c.(1048-1050)gAg>gGg	p.E350G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATAGGGTTTCTCTCTAGTATG	0.433													ENSG00000185177																																					0													25.0	27.0	26.0					7																	57188073		2085	4254	6339	SO:0001583	missense	0			-	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1049A>G	7.37:g.57188073T>C	ENSP00000333776:p.Glu350Gly			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E350G	ENST00000331162.4	37	c.1049	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	t	14.09	2.432845	0.43224	.	.	ENSG00000185177	ENST00000331162	T	0.27557	1.66	0.946	0.946	0.19549	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44973	0.1319	L	0.57536	1.79	0.32089	N	0.592173	D	0.89917	1.0	D	0.80764	0.994	T	0.51687	-0.8674	9	0.87932	D	0	.	5.7317	0.18042	0.0:0.0:0.0:1.0	.	350	Q96JC4	ZN479_HUMAN	G	350	ENSP00000333776:E350G	ENSP00000333776:E350G	E	-	2	0	ZNF479	57192015	0.467000	0.25831	0.037000	0.18230	0.035000	0.12851	1.481000	0.35476	0.339000	0.23719	0.329000	0.21502	GAG	-	ZNF479	-	pfscan_Znf_C2H2		0.433	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	0	0	0	136	136	66	0.00	0.00	T	XM_291202		57188073	-1	29	8	141	49	tier1	no_errors	ENST00000331162	ensembl	human	known	74_37	missense	17.06	14.04	SNP	1.000	C	29	141
TGM7	116179	genome.wustl.edu	37	15	43568678	43568678	+	Missense_Mutation	SNP	A	A	G			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr15:43568678A>G	ENST00000452443.2	-	13	2112	c.2108T>C	c.(2107-2109)tTc>tCc	p.F703S		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	703					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CACAGTGACGAAGATGTCCTT	0.602													ENSG00000159495																																					0													135.0	116.0	123.0					15																	43568678		2202	4299	6501	SO:0001583	missense	0			-	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.2108T>C	15.37:g.43568678A>G	ENSP00000389466:p.Phe703Ser			Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.F703S	ENST00000452443.2	37	c.2108	CCDS32213.1	15	.	.	.	.	.	.	.	.	.	.	A	8.969	0.972470	0.18736	.	.	ENSG00000159495	ENST00000452443	T	0.67523	-0.27	4.47	2.05	0.26809	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.517672	0.19039	N	0.124329	T	0.62612	0.2442	L	0.46157	1.445	0.09310	N	1	D	0.55172	0.97	P	0.54815	0.761	T	0.50684	-0.8799	10	0.19147	T	0.46	-0.2483	4.4299	0.11522	0.7245:0.0:0.0993:0.1762	.	703	Q96PF1	TGM7_HUMAN	S	703	ENSP00000389466:F703S	ENSP00000389466:F703S	F	-	2	0	TGM7	41355970	0.327000	0.24678	0.134000	0.22075	0.212000	0.24457	1.668000	0.37481	0.641000	0.30601	0.477000	0.44152	TTC	-	TGM7	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.602	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	HGNC	protein_coding	OTTHUMT00000432489.1	0	0	0	61	61	98	0.00	0.00	A	NM_052955		43568678	-1	40	34	64	42	tier1	no_errors	ENST00000452443	ensembl	human	known	74_37	missense	38.46	44.74	SNP	0.139	G	40	64
ENTPD1	953	genome.wustl.edu	37	10	97607265	97607265	+	Missense_Mutation	SNP	C	C	G	rs199648967	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr10:97607265C>G	ENST00000371205.4	+	7	1159	c.876C>G	c.(874-876)aaC>aaG	p.N292K	ENTPD1_ENST00000543964.1_Missense_Mutation_p.N184K|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.N299K|ENTPD1_ENST00000371207.3_Missense_Mutation_p.N304K|ENTPD1_ENST00000539125.1_Missense_Mutation_p.N154K|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371203.5_Missense_Mutation_p.N154K			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	292					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGGTAGTGAACGTAAGTGACC	0.418													ENSG00000138185																																					0													130.0	126.0	127.0					10																	97607265		2203	4300	6503	SO:0001583	missense	0			-	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.876C>G	10.37:g.97607265C>G	ENSP00000360248:p.Asn292Lys		A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.N304K	ENST00000371205.4	37	c.912	CCDS7444.1	10	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322139	0.23994	.	.	ENSG00000138185	ENST00000453258;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78	5.77	-11.5	0.00074	.	0.512547	0.24479	N	0.038167	T	0.04452	0.0122	N	0.25992	0.78	0.09310	N	1	B;B;B	0.25351	0.102;0.006;0.124	B;B;B	0.32393	0.089;0.015;0.145	T	0.30238	-0.9985	10	0.06891	T	0.86	-7.215	9.1455	0.36930	0.0776:0.6575:0.1571:0.1079	.	304;299;292	G3XAF6;P49961-2;P49961	.;.;ENTP1_HUMAN	K	299;304;184;154;154;292	ENSP00000390955:N299K;ENSP00000360250:N304K;ENSP00000442968:N184K;ENSP00000440027:N154K;ENSP00000360246:N154K;ENSP00000360248:N292K	ENSP00000360246:N154K	N	+	3	2	ENTPD1	97597255	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-2.168000	0.01270	-2.926000	0.00302	-0.300000	0.09419	AAC	-	ENTPD1	-	pfam_GDA1_CD39_NTPase		0.418	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD1	HGNC	protein_coding	OTTHUMT00000049566.1	0	0	0	80	80	225	0.00	0.00	C	NM_001776		97607265	+1	21	25	57	86	tier1	no_errors	ENST00000371207	ensembl	human	known	74_37	missense	26.92	22.52	SNP	0.000	G	21	57
SLC12A3	6559	genome.wustl.edu	37	16	56914083	56914083	+	Silent	SNP	C	C	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr16:56914083C>T	ENST00000563236.1	+	12	1510	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	SLC12A3_ENST00000566786.1_Silent_p.F494F|SLC12A3_ENST00000438926.2_Silent_p.F495F|SLC12A3_ENST00000262502.5_Silent_p.F494F			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	495					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCGGCTTCTTCGGCAAAGGCT	0.617													ENSG00000070915																																					0			GRCh37	CM081805	SLC12A3	M							47.0	38.0	41.0					16																	56914083		2198	4300	6498	SO:0001819	synonymous_variant	0			-		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1485C>T	16.37:g.56914083C>T			A8MSJ2|C9JNN9	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.F495	ENST00000563236.1	37	c.1485	CCDS58464.1	16																																																																																			-	SLC12A3	-	pfam_AA-permease/SLC12A_dom,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS		0.617	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	0	0	0	238	238	115	0.00	0.00	C			56914083	+1	98	20	135	42	tier1	no_errors	ENST00000438926	ensembl	human	known	74_37	silent	42.06	32.26	SNP	0.994	T	98	135
ZNF268	10795	genome.wustl.edu	37	12	133780214	133780214	+	Missense_Mutation	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:133780214G>A	ENST00000536435.2	+	6	2272	c.1942G>A	c.(1942-1944)Gcc>Acc	p.A648T	ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.A487T|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.A648T	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	648					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATGTGGAAAAGCCTTTACGTT	0.383													ENSG00000090612																																					0													87.0	77.0	80.0					12																	133780214		692	1591	2283	SO:0001583	missense	0			-	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.1942G>A	12.37:g.133780214G>A	ENSP00000444412:p.Ala648Thr		Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A648T	ENST00000536435.2	37	c.1942	CCDS45012.1	12	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672277	0.29693	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	T;T	0.13778	2.56;2.56	4.28	-1.39	0.08997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07908	0.0198	N	0.25957	0.775	0.09310	N	1	B;B	0.22003	0.063;0.051	B;B	0.18263	0.021;0.012	T	0.40627	-0.9553	8	.	.	.	.	6.269	0.20943	0.1629:0.0:0.2451:0.592	.	648;487	Q14587;Q14587-2	ZN268_HUMAN;.	T	648;648;487;487	ENSP00000228289:A648T;ENSP00000445713:A487T	.	A	+	1	0	ZNF268	.	0.000000	0.05858	0.843000	0.33291	0.940000	0.58332	-1.013000	0.03645	-0.184000	0.10567	-0.182000	0.12963	GCC	-	ZNF268	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF268	HGNC	protein_coding	OTTHUMT00000397191.2	0	0	0	62	62	93	0.00	0.00	G	NM_152943		133780214	+1	5	5	34	27	tier1	no_errors	ENST00000228289	ensembl	human	known	74_37	missense	12.82	15.62	SNP	0.001	A	5	34
CHDH	55349	genome.wustl.edu	37	3	53857739	53857739	+	Silent	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr3:53857739G>A	ENST00000315251.6	-	3	734	c.297C>T	c.(295-297)tgC>tgT	p.C99C		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	99					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	ACCTGTCGTCGCACAGGTTGG	0.697													ENSG00000016391																																					0													10.0	13.0	12.0					3																	53857739		2091	4085	6176	SO:0001819	synonymous_variant	0			-	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.297C>T	3.37:g.53857739G>A			Q9NY17	Silent	SNP	pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase	p.C99	ENST00000315251.6	37	c.297	CCDS2873.1	3																																																																																			-	CHDH	-	pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase		0.697	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDH	HGNC	protein_coding	OTTHUMT00000350567.2	0	0	0	62	62	50	0.00	0.00	G	NM_018397		53857739	-1	11	8	30	18	tier1	no_errors	ENST00000315251	ensembl	human	known	74_37	silent	26.83	30.77	SNP	0.710	A	11	30
CCDC7	79741	genome.wustl.edu	37	10	33165274	33165274	+	Splice_Site	SNP	G	G	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr10:33165274G>T	ENST00000375030.2	+	23	2335		c.e23-1		C10orf68_ENST00000375025.4_Splice_Site|C10orf68_ENST00000375028.3_Splice_Site			Q9H943	CJ068_HUMAN												breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTTCTTTAAAGTGTTACATGC	0.303													ENSG00000150076																																					0													67.0	65.0	66.0					10																	33165274		2203	4300	6503	SO:0001630	splice_region_variant	0			-																												ENST00000375030.2:c.1718-1G>T	10.37:g.33165274G>T			B0QZ71|Q08AN7|Q8N7T7	Splice_Site	SNP	-	e22-1	ENST00000375030.2	37	c.2033-1		10	.	.	.	.	.	.	.	.	.	.	.	8.710	0.911834	0.17907	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	.	.	.	4.23	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.33809	D	0.627637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1748	0.31275	0.1083:0.0:0.8917:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf68	33205280	0.366000	0.25014	0.030000	0.17652	0.046000	0.14306	0.692000	0.25482	1.370000	0.46153	-0.140000	0.14226	.	-	C10orf68	-	-		0.303	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	0	0	0	99	99	120	0.00	0.00	G		Intron	33165274	+1	20	9	27	23	tier1	no_errors	ENST00000375025	ensembl	human	known	74_37	splice_site	42.55	28.12	SNP	0.040	T	20	27
CTIF	9811	genome.wustl.edu	37	18	46163008	46163008	+	Silent	SNP	G	G	A	rs577092756	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr18:46163008G>A	ENST00000256413.3	+	3	499	c.204G>A	c.(202-204)ccG>ccA	p.P68P	CTIF_ENST00000382998.4_Silent_p.P68P	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	68	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GCAGCGAACCGCTGGACAGCA	0.627													ENSG00000134030	G|||	2	0.000399361	0.0	0.0029	5008	,	,		17984	0.0		0.0	False		,,,				2504	0.0																0													30.0	27.0	28.0					18																	46163008		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.204G>A	18.37:g.46163008G>A			B3KTR8|Q8IVD5	Silent	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.P68	ENST00000256413.3	37	c.204	CCDS11935.1	18																																																																																			-	CTIF	-	NULL		0.627	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTIF	HGNC	protein_coding	OTTHUMT00000255907.1	0	0	0	85	85	34	0.00	0.00	G	NM_014772		46163008	+1	20	3	57	16	tier1	no_errors	ENST00000382998	ensembl	human	known	74_37	silent	25.64	15.79	SNP	0.918	A	20	57
LRRK2	120892	genome.wustl.edu	37	12	40693049	40693049	+	Missense_Mutation	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:40693049G>A	ENST00000298910.7	+	25	3544	c.3486G>A	c.(3484-3486)atG>atA	p.M1162I	LRRK2_ENST00000343742.2_Missense_Mutation_p.M1162I	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1162					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTGCCAGAATGAATTTTCTTG	0.398													ENSG00000188906																																					0													167.0	177.0	173.0					12																	40693049		2203	4300	6503	SO:0001583	missense	0			-	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3486G>A	12.37:g.40693049G>A	ENSP00000298910:p.Met1162Ile		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.M1162I	ENST00000298910.7	37	c.3486	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512916	0.27123	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.24151	2.25;1.87	5.12	3.06	0.35304	.	0.205916	0.51477	N	0.000092	T	0.12860	0.0312	N	0.17082	0.46	0.31181	N	0.702017	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.17349	-1.0372	10	0.22109	T	0.4	.	6.1283	0.20192	0.165:0.0:0.6877:0.1473	.	1162;1162	E9PC85;Q5S007	.;LRRK2_HUMAN	I	1162	ENSP00000341930:M1162I;ENSP00000298910:M1162I	ENSP00000298910:M1162I	M	+	3	0	LRRK2	38979316	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	1.912000	0.39946	0.403000	0.25479	0.313000	0.20887	ATG	-	LRRK2	-	NULL		0.398	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	0	0	0	110	110	284	0.00	0.00	G	XM_058513		40693049	+1	19	44	116	177	tier1	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	14.07	19.91	SNP	1.000	A	19	116
C8B	732	genome.wustl.edu	37	1	57425757	57425757	+	Missense_Mutation	SNP	G	G	A	rs151070962		TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:57425757G>A	ENST00000371237.4	-	2	251	c.185C>T	c.(184-186)cCc>cTc	p.P62L	C8B_ENST00000535057.1_5'UTR|C8B_ENST00000543257.1_Missense_Mutation_p.P10L|C8B_ENST00000494324.1_5'UTR	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	62					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAATCAATGGGCATCAGGGT	0.493													ENSG00000021852																																					0								G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	173.0	141.0	152.0		185	4.0	1.0	1	dbSNP_134	152	0,8600		0,0,4300	no	missense	C8B	NM_000066.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	62/592	57425757	1,13005	2203	4300	6503	SO:0001583	missense	0			-	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.185C>T	1.37:g.57425757G>A	ENSP00000360281:p.Pro62Leu		A1L4K7	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.P62L	ENST00000371237.4	37	c.185	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.180949	0.57800	2.27E-4	0.0	ENSG00000021852	ENST00000371237;ENST00000543257	T;T	0.35048	1.33;1.4	4.92	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.946	T	0.63462	-0.6632	10	0.87932	D	0	-8.1555	8.8935	0.35449	0.0817:0.0:0.7704:0.1479	.	10;62	F5H7G1;P07358	.;CO8B_HUMAN	L	62;10	ENSP00000360281:P62L;ENSP00000442548:P10L	ENSP00000360281:P62L	P	-	2	0	C8B	57198345	1.000000	0.71417	0.975000	0.42487	0.453000	0.32348	4.251000	0.58778	1.408000	0.46895	0.563000	0.77884	CCC	rs151070962	C8B	-	superfamily_Thrombospondin_1_rpt		0.493	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	0	0	0	65	65	196	0.00	0.00	G			57425757	-1	21	32	46	83	tier1	no_errors	ENST00000371237	ensembl	human	known	74_37	missense	30.88	27.83	SNP	0.983	A	21	46
CLDN2	9075	genome.wustl.edu	37	X	106171471	106171471	+	Missense_Mutation	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chrX:106171471G>A	ENST00000541806.1	+	2	532	c.13G>A	c.(13-15)Ggc>Agc	p.G5S	CLDN2_ENST00000336803.1_Missense_Mutation_p.G5S|CLDN2_ENST00000540876.1_Missense_Mutation_p.G5S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	5					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GGCCTCTCTTGGCCTCCAACT	0.547													ENSG00000165376																																					0													69.0	60.0	63.0					X																	106171471		2203	4300	6503	SO:0001583	missense	0			-	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.13G>A	X.37:g.106171471G>A	ENSP00000441283:p.Gly5Ser		B2R6B9	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14	p.G5S	ENST00000541806.1	37	c.13	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979460	0.53827	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.89270	-2.49;-2.49;-2.49	5.61	3.84	0.44239	.	0.049621	0.85682	D	0.000000	D	0.88588	0.6477	M	0.83774	2.66	0.47659	D	0.999488	B	0.09022	0.002	B	0.21151	0.033	D	0.83751	0.0209	10	0.56958	D	0.05	.	9.2028	0.37270	0.1809:0.0:0.8191:0.0	.	5	P57739	CLD2_HUMAN	S	5	ENSP00000441283:G5S;ENSP00000443230:G5S;ENSP00000336571:G5S	ENSP00000336571:G5S	G	+	1	0	CLDN2	106058127	1.000000	0.71417	0.838000	0.33150	0.994000	0.84299	4.468000	0.60162	0.538000	0.28769	0.600000	0.82982	GGC	-	CLDN2	-	pfam_PMP22/EMP/MP20/Claudin		0.547	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN2	HGNC	protein_coding	OTTHUMT00000057815.1	0	0	0	60	60	133	0.00	0.00	G			106171471	+1	15	21	42	46	tier1	no_errors	ENST00000336803	ensembl	human	known	74_37	missense	26.32	30.88	SNP	1.000	A	15	42
CNTNAP5	129684	genome.wustl.edu	37	2	124999855	124999855	+	Missense_Mutation	SNP	C	C	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr2:124999855C>T	ENST00000431078.1	+	3	630	c.266C>T	c.(265-267)aCa>aTa	p.T89I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	89	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTAGAGATTACAGCAGTGGCC	0.522													ENSG00000155052																																					0													67.0	71.0	70.0					2																	124999855		2046	4190	6236	SO:0001583	missense	0			-	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.266C>T	2.37:g.124999855C>T	ENSP00000399013:p.Thr89Ile		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T89I	ENST00000431078.1	37	c.266	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390218	0.82902	.	.	ENSG00000155052	ENST00000431078	D	0.98567	-5.0	5.71	5.71	0.89125	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.246954	0.28549	N	0.014958	D	0.97999	0.9341	M	0.91768	3.24	0.48395	D	0.999647	B	0.27910	0.193	B	0.30646	0.118	D	0.96828	0.9609	10	0.72032	D	0.01	.	12.1234	0.53903	0.0:0.9134:0.0:0.0866	.	89	Q8WYK1	CNTP5_HUMAN	I	89	ENSP00000399013:T89I	ENSP00000399013:T89I	T	+	2	0	CNTNAP5	124716325	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	4.799000	0.62517	2.696000	0.92011	0.650000	0.86243	ACA	-	CNTP5	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.522	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTP5	HGNC	protein_coding	OTTHUMT00000330864.3	0	0	0	97	97	168	0.00	0.00	C			124999855	+1	61	93	59	61	tier1	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	50.41	60.00	SNP	0.997	T	61	59
SLC25A48	153328	genome.wustl.edu	37	5	135188287	135188287	+	Silent	SNP	C	C	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr5:135188287C>T	ENST00000420621.1	+	4	370	c.198C>T	c.(196-198)ctC>ctT	p.L66L	SLC25A48_ENST00000274513.5_Silent_p.L66L|SLC25A48_ENST00000433282.2_Silent_p.L12L|SLC25A48_ENST00000412661.2_Silent_p.L66L|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	66					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCTTCCCCCTCGCCAGCATTG	0.622													ENSG00000145832																																					0													129.0	138.0	135.0					5																	135188287		2035	4193	6228	SO:0001819	synonymous_variant	0			-		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.198C>T	5.37:g.135188287C>T			Q8TAV9	Missense_Mutation	SNP	NULL	p.R53C	ENST00000420621.1	37	c.157		5																																																																																			-	SLC25A48	-	NULL		0.622	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	SLC25A48	HGNC	protein_coding		0	0	0	39	39	157	0.00	0.00	C	NM_145282		135188287	+1	10	15	32	39	tier1	no_errors	ENST00000462340	ensembl	human	known	74_37	missense	23.81	27.78	SNP	0.582	T	10	32
SIPA1L3	23094	genome.wustl.edu	37	19	38633272	38633272	+	Missense_Mutation	SNP	C	C	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr19:38633272C>T	ENST00000222345.6	+	12	3964	c.3455C>T	c.(3454-3456)cCt>cTt	p.P1152L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1152					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GACAGAGTCCCTCCCTACCGA	0.582											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000105738																																					0													217.0	209.0	211.0					19																	38633272		2203	4300	6503	SO:0001583	missense	0			-	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3455C>T	19.37:g.38633272C>T	ENSP00000222345:p.Pro1152Leu	879	Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.P1152L	ENST00000222345.6	37	c.3455	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900581	0.33535	.	.	ENSG00000105738	ENST00000222345	T	0.75367	-0.93	4.82	3.74	0.42951	.	0.513030	0.19730	N	0.107362	T	0.65626	0.2709	L	0.52905	1.665	0.50467	D	0.999878	B	0.10296	0.003	B	0.06405	0.002	T	0.59059	-0.7525	10	0.20519	T	0.43	-8.2667	10.0247	0.42063	0.3489:0.6511:0.0:0.0	.	1152	O60292	SI1L3_HUMAN	L	1152	ENSP00000222345:P1152L	ENSP00000222345:P1152L	P	+	2	0	SIPA1L3	43325112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.581000	0.36558	2.506000	0.84524	0.563000	0.77884	CCT	-	SIPA1L3	-	NULL		0.582	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	0	0	1	88	88	116	0.00	0.85	C	XM_032278		38633272	+1	83	62	114	109	tier1	no_errors	ENST00000222345	ensembl	human	known	74_37	missense	42.13	36.26	SNP	1.000	T	83	114
C17orf74	201243	genome.wustl.edu	37	17	7330144	7330144	+	Silent	SNP	G	G	A	rs374298397		TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr17:7330144G>A	ENST00000333870.3	+	3	908	c.834G>A	c.(832-834)tcG>tcA	p.S278S	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	278						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AGTGGGCCTCGTCTCCACCAC	0.657													ENSG00000184560																																					0										1,4161		0,1,2080	36.0	39.0	38.0		834	-9.2	0.0	17		38	0,8434		0,0,4217	no	coding-synonymous	C17orf74	NM_175734.4		0,1,6297	AA,AG,GG		0.0,0.024,0.0079		278/502	7330144	1,12595	2081	4217	6298	SO:0001819	synonymous_variant	0			-	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.834G>A	17.37:g.7330144G>A				Silent	SNP	NULL	p.S278	ENST00000333870.3	37	c.834	CCDS42255.1	17																																																																																			-	C17orf74	-	NULL		0.657	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf74	HGNC	protein_coding	OTTHUMT00000440933.2	0	0	0	93	93	48	0.00	0.00	G	NM_175734		7330144	+1	20	3	87	25	tier1	no_errors	ENST00000333870	ensembl	human	known	74_37	silent	18.69	10.71	SNP	0.000	A	20	87
IGSF3	3321	genome.wustl.edu	37	1	117146496	117146496	+	Missense_Mutation	SNP	G	G	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:117146496G>T	ENST00000369486.3	-	6	2139	c.1374C>A	c.(1372-1374)agC>agA	p.S458R	IGSF3_ENST00000318837.6_Missense_Mutation_p.S478R|IGSF3_ENST00000369483.1_Missense_Mutation_p.S478R	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	458	Ig-like C2-type 4.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACATGATATTGCTGCGGCGGT	0.652													ENSG00000143061																																					0													70.0	68.0	68.0					1																	117146496		2202	4299	6501	SO:0001583	missense	0			-	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1374C>A	1.37:g.117146496G>T	ENSP00000358498:p.Ser458Arg		A6NJZ6|A6NMC7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S478R	ENST00000369486.3	37	c.1434	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854894	0.32791	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64438	-0.1;-0.1;-0.1	5.27	3.27	0.37495	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.241069	0.45606	D	0.000356	T	0.21718	0.0523	L	0.27053	0.805	0.38126	D	0.937994	B;P;B	0.38827	0.087;0.649;0.106	B;B;B	0.36030	0.113;0.216;0.18	T	0.07501	-1.0769	10	0.12430	T	0.62	-37.3051	4.4564	0.11645	0.2008:0.1865:0.6127:0.0	.	478;458;478	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	R	458;478;478	ENSP00000358498:S458R;ENSP00000358495:S478R;ENSP00000321184:S478R	ENSP00000321184:S478R	S	-	3	2	IGSF3	116948019	0.898000	0.30612	1.000000	0.80357	0.989000	0.77384	0.041000	0.13927	1.460000	0.47911	0.557000	0.71058	AGC	-	IGSF3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.652	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	0	0	0	82	82	26	0.00	0.00	G	NM_001542		117146496	-1	21	3	65	21	tier1	no_errors	ENST00000318837	ensembl	human	known	74_37	missense	24.42	12.50	SNP	1.000	T	21	65
MAST1	22983	genome.wustl.edu	37	19	12975906	12975906	+	Missense_Mutation	SNP	C	C	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr19:12975906C>T	ENST00000251472.4	+	14	1591	c.1552C>T	c.(1552-1554)Ctc>Ttc	p.L518F		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGATTTCGGCCTCTCCAAGAT	0.572													ENSG00000105613																																					0													128.0	109.0	116.0					19																	12975906		2203	4300	6503	SO:0001583	missense	0			-	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1552C>T	19.37:g.12975906C>T	ENSP00000251472:p.Leu518Phe			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.L518F	ENST00000251472.4	37	c.1552	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629919	0.46944	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.34072	1.38	4.64	4.64	0.57946	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082187	0.49305	N	0.000141	T	0.56455	0.1986	L	0.58669	1.825	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.60357	-0.7279	10	0.87932	D	0	-34.0227	15.363	0.74496	0.0:1.0:0.0:0.0	.	518	Q9Y2H9	MAST1_HUMAN	F	518	ENSP00000251472:L518F	ENSP00000251472:L518F	L	+	1	0	MAST1	12836906	0.999000	0.42202	0.977000	0.42913	0.343000	0.28985	4.020000	0.57189	2.314000	0.78098	0.561000	0.74099	CTC	-	MAST1	-	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		0.572	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	0	0	0	29	29	97	0.00	0.00	C	NM_014975		12975906	+1	8	13	42	104	tier1	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	16.00	11.11	SNP	0.997	T	8	42
THBS1	7057	genome.wustl.edu	37	15	39882082	39882082	+	Missense_Mutation	SNP	A	A	C			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr15:39882082A>C	ENST00000260356.5	+	13	2168	c.2003A>C	c.(2002-2004)cAc>cCc	p.H668P		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	668	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.H668R(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TACCTGGGCCACTATAGCGAC	0.602													ENSG00000137801																																					1	Substitution - Missense(1)	prostate(1)											113.0	96.0	102.0					15																	39882082		2200	4297	6497	SO:0001583	missense	0			-		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2003A>C	15.37:g.39882082A>C	ENSP00000260356:p.His668Pro		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.H668P	ENST00000260356.5	37	c.2003	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337583	0.60963	.	.	ENSG00000137801	ENST00000260356	T	0.77489	-1.1	5.99	4.85	0.62838	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.37857	N	0.001907	T	0.68220	0.2977	L	0.35288	1.05	0.51767	D	0.999937	B;B	0.16166	0.016;0.001	B;B	0.23852	0.049;0.003	T	0.60495	-0.7252	10	0.22706	T	0.39	-35.3274	13.3861	0.60797	0.8685:0.1315:0.0:0.0	.	583;668	B4E3J7;P07996	.;TSP1_HUMAN	P	668	ENSP00000260356:H668P	ENSP00000260356:H668P	H	+	2	0	THBS1	37669374	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.171000	0.71926	1.058000	0.40530	0.533000	0.62120	CAC	-	THBS1	-	smart_EG-like_dom,pfscan_EG-like_dom		0.602	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	0	0	1	80	80	159	0.00	0.62	A	NM_003246		39882082	+1	27	36	65	75	tier1	no_errors	ENST00000260356	ensembl	human	known	74_37	missense	29.35	32.43	SNP	1.000	C	27	65
MIR7162	102466227	genome.wustl.edu	37	15	62538270	62538270	+	RNA	SNP	T	T	C			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr15:62538270T>C	ENST00000570077.1	-	0	946				AC126323.1_ENST00000408214.1_RNA																							GCTTCTGCTCTAGCAGCCTCT	0.597													ENSG00000166104																																					0																																												0			-																													15.37:g.62538270T>C				R	SNP	-	NULL	ENST00000570077.1	37	NULL		15																																																																																			-	hsa-mir-7162	-	-		0.597	hsa-mir-7162.1-004	KNOWN	basic	processed_transcript	ENSG00000166104	miRBase	pseudogene	OTTHUMT00000422143.1	0	0	0	69	69	50	0.00	0.00	T			62538270	-1	8	11	73	38	tier1	no_errors	ENST00000570077	ensembl	human	known	74_37	rna	9.88	22.45	SNP	0.000	C	8	73
PSMB9	5698	genome.wustl.edu	37	6	32823978	32823978	+	Missense_Mutation	SNP	G	G	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr6:32823978G>T	ENST00000374859.2	+	2	193	c.124G>T	c.(124-126)Gca>Tca	p.A42S	TAP1_ENST00000354258.4_5'Flank|PSMB9_ENST00000395330.1_Missense_Mutation_p.A19S|PSMB9_ENST00000453265.2_Missense_Mutation_p.A42S	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	42					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	CCGAGTGTCTGCAGGGTGAGT	0.468													ENSG00000240065																																					0													178.0	147.0	158.0					6																	32823978		1511	2709	4220	SO:0001583	missense	0			-		CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"""Proteasome (prosome, macropain) subunits"""	9546	protein-coding gene	gene with protein product		177045	"""proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)"", ""large multifunctional peptidase 2"""	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.124G>T	6.37:g.32823978G>T	ENSP00000363993:p.Ala42Ser		B0V0T1|Q16523|Q5JNW4	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.A42S	ENST00000374859.2	37	c.124	CCDS4759.1	6	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464677	0.43736	.	.	ENSG00000240065	ENST00000395330;ENST00000414474;ENST00000374859;ENST00000453265;ENST00000395333	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.4	5.4	0.78164	Proteasome, beta-type subunit, conserved site (1);	0.118882	0.56097	D	0.000034	T	0.31638	0.0803	L	0.28274	0.84	0.49213	D	0.999766	D;D	0.65815	0.995;0.987	D;D	0.69307	0.913;0.963	T	0.01791	-1.1273	10	0.32370	T	0.25	-28.1064	16.7172	0.85399	0.0:0.0:1.0:0.0	.	42;42	B4DZW2;P28065	.;PSB9_HUMAN	S	19;19;42;42;42	ENSP00000378739:A19S;ENSP00000394363:A19S;ENSP00000363993:A42S;ENSP00000394773:A42S	ENSP00000363993:A42S	A	+	1	0	PSMB9	32931956	0.983000	0.35010	1.000000	0.80357	0.130000	0.20726	2.661000	0.46758	2.808000	0.96608	0.551000	0.68910	GCA	-	PSMB9	-	pfam_Proteasome_sua/b,prints_Pept_T1A_subB		0.468	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB9	HGNC	protein_coding	OTTHUMT00000076624.5	0	0	1	127	127	193	0.00	0.52	G	NM_002800		32823978	+1	18	22	99	112	tier1	no_errors	ENST00000374859	ensembl	human	known	74_37	missense	15.38	16.42	SNP	1.000	T	18	99
TMEM132B	114795	genome.wustl.edu	37	12	126139120	126139120	+	Missense_Mutation	SNP	C	C	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:126139120C>A	ENST00000299308.3	+	9	3109	c.3101C>A	c.(3100-3102)cCa>cAa	p.P1034Q	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P546Q	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1034						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCATCCTCCCAGAGGACGGC	0.473													ENSG00000139364																																					0													65.0	63.0	64.0					12																	126139120		1877	4107	5984	SO:0001583	missense	0			-	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.3101C>A	12.37:g.126139120C>A	ENSP00000299308:p.Pro1034Gln		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.P1034Q	ENST00000299308.3	37	c.3101	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396708	0.83120	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13089	3.38;2.62	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000003	T	0.38161	0.1030	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.03374	-1.1043	10	0.87932	D	0	.	20.0839	0.97794	0.0:1.0:0.0:0.0	.	1034	Q14DG7	T132B_HUMAN	Q	1034;546	ENSP00000299308:P1034Q;ENSP00000440436:P546Q	ENSP00000299308:P1034Q	P	+	2	0	TMEM132B	124705073	1.000000	0.71417	0.945000	0.38365	0.976000	0.68499	5.864000	0.69575	2.741000	0.93983	0.655000	0.94253	CCA	-	TMEM132B	-	NULL		0.473	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	0	0	0	49	49	57	0.00	0.00	C	NM_052907		126139120	+1	12	8	51	14	tier1	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	19.05	36.36	SNP	1.000	A	12	51
ASPDH	554235	genome.wustl.edu	37	19	51017820	51017820	+	5'Flank	SNP	C	C	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr19:51017820C>T	ENST00000389208.4	-	0	0				ASPDH_ENST00000376916.3_5'UTR|ASPDH_ENST00000597030.1_5'UTR	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing						NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CCGTCCCTCCCGTTCCCCAGC	0.632													ENSG00000204653																																					0													220.0	175.0	189.0					19																	51017820		692	1591	2283	SO:0001631	upstream_gene_variant	0			-		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91			19.37:g.51017820C>T	Exception_encountered		Q6NZ37	R	SNP	-	NULL	ENST00000389208.4	37	NULL	CCDS46153.1	19																																																																																			-	ASPDH	-	-		0.632	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPDH	HGNC	protein_coding	OTTHUMT00000464861.1	0	0	0	20	20	48	0.00	0.00	C	NM_001024656		51017820	-1	7	8	29	42	tier1	no_errors	ENST00000597030	ensembl	human	known	74_37	rna	19.44	16.00	SNP	0.000	T	7	29
BRAP	8315	genome.wustl.edu	37	12	112110525	112110525	+	Silent	SNP	T	T	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:112110525T>A	ENST00000327551.6	-	5	737	c.597A>T	c.(595-597)atA>atT	p.I199I	BRAP_ENST00000539060.1_Intron|BRAP_ENST00000419234.4_Silent_p.I229I			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CGTCATCTTCTATTGAGTTGA	0.368													ENSG00000089234																									Pancreas(146;846 1904 7830 25130 26065)												0													106.0	93.0	98.0					12																	112110525		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.597A>T	12.37:g.112110525T>A			B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.I229	ENST00000327551.6	37	c.687		12																																																																																			-	BRAP	-	pfam_BRAP2		0.368	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	0	0	0	64	64	161	0.00	0.00	T			112110525	-1	13	21	51	71	tier1	no_errors	ENST00000419234	ensembl	human	known	74_37	silent	20.31	22.83	SNP	0.993	A	13	51
SGCG	6445	genome.wustl.edu	37	13	23853610	23853610	+	Silent	SNP	A	A	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr13:23853610A>T	ENST00000218867.3	+	5	622	c.498A>T	c.(496-498)cgA>cgT	p.R166R	SGCG_ENST00000545013.1_Silent_p.R166R|SGCG_ENST00000537476.1_Silent_p.R166R	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	166					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		ATAAACTTCGAGTAACTGGTA	0.383													ENSG00000102683																																					0													101.0	87.0	92.0					13																	23853610		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.498A>T	13.37:g.23853610A>T			Q32M32|Q5T9J6	Silent	SNP	pfam_Sarcoglycan	p.R166	ENST00000218867.3	37	c.498	CCDS9299.1	13																																																																																			-	SGCG	-	pfam_Sarcoglycan		0.383	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCG	HGNC	protein_coding	OTTHUMT00000044151.1	0	0	0	62	62	169	0.00	0.00	A	NM_000231		23853610	+1	9	19	50	72	tier1	no_errors	ENST00000218867	ensembl	human	known	74_37	silent	15.25	20.88	SNP	0.998	T	9	50
CACNA1C	775	genome.wustl.edu	37	12	2602406	2602406	+	Missense_Mutation	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:2602406G>A	ENST00000347598.4	+	7	967	c.967G>A	c.(967-969)Ggg>Agg	p.G323R	CACNA1C_ENST00000399603.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G323R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G323R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G323R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G323R|CACNA1C_ENST00000480911.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399655.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G323R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G323R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G323R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	323					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AACGGGCCACGGGCGGCAGTG	0.602													ENSG00000151067																																					0													80.0	82.0	81.0					12																	2602406		2160	4279	6439	SO:0001583	missense	0			-	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.967G>A	12.37:g.2602406G>A	ENSP00000266376:p.Gly323Arg		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.G323R	ENST00000347598.4	37	c.967	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216876	0.79352	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97480	-4.34;-4.34;-4.33;-4.34;-4.33;-4.33;-4.35;-4.26;-4.3;-4.36;-4.28;-4.27;-4.35;-4.39;-4.27;-4.19;-4.4;-4.35;-4.33;-4.4;-4.28;-4.38;-4.4	5.06	5.06	0.68205	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.921;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;B;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.996;1.0;0.999;1.0;1.0;1.0;1.0;0.999;0.399;1.0;0.998;0.999;1.0;1.0;0.999;0.999	D	0.99490	1.0950	10	0.87932	D	0	.	18.6169	0.91305	0.0:0.0:1.0:0.0	.	323;320;323;323;323;323;323;323;323;323;323;294;323;323;323;323;323;323;323;323;323;323;323;323	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;323;164	ENSP00000336982:G323R;ENSP00000382563:G323R;ENSP00000437936:G323R;ENSP00000382552:G323R;ENSP00000382547:G323R;ENSP00000382506:G323R;ENSP00000382530:G323R;ENSP00000382546:G323R;ENSP00000382500:G323R;ENSP00000382549:G323R;ENSP00000266376:G323R;ENSP00000382515:G323R;ENSP00000382510:G323R;ENSP00000341092:G323R;ENSP00000382537:G323R;ENSP00000329877:G323R;ENSP00000382557:G323R;ENSP00000385724:G323R;ENSP00000382512:G323R;ENSP00000382542:G323R;ENSP00000382526:G323R;ENSP00000385896:G323R;ENSP00000382504:G323R	ENSP00000323129:G164R	G	+	1	0	CACNA1C	2472667	1.000000	0.71417	0.962000	0.40283	0.400000	0.30750	9.601000	0.98297	2.633000	0.89246	0.455000	0.32223	GGG	-	CAC1C	-	pfam_Ion_trans_dom		0.602	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CAC1C	HGNC	protein_coding	OTTHUMT00000317035.1	0	0	0	55	55	47	0.00	0.00	G	NM_000719		2602406	+1	11	4	63	23	tier1	no_errors	ENST00000399634	ensembl	human	known	74_37	missense	14.86	14.81	SNP	1.000	A	11	63
MKI67	4288	genome.wustl.edu	37	10	129907069	129907069	+	Missense_Mutation	SNP	G	G	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr10:129907069G>T	ENST00000368654.3	-	13	3410	c.3035C>A	c.(3034-3036)cCa>cAa	p.P1012Q	MKI67_ENST00000368653.3_Missense_Mutation_p.P652Q|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1012	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TATTGGTTCTGGTTGTAATGA	0.483													ENSG00000148773																																					0													524.0	512.0	516.0					10																	129907069		2203	4300	6503	SO:0001583	missense	0			-	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3035C>A	10.37:g.129907069G>T	ENSP00000357643:p.Pro1012Gln		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.P1012Q	ENST00000368654.3	37	c.3035	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	9.084	1.000101	0.19121	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03035	4.07;4.07	3.77	-0.48	0.12085	.	2.862750	0.01484	N	0.016790	T	0.08358	0.0208	L	0.58101	1.795	0.09310	N	1	P;D;P	0.53312	0.835;0.959;0.918	B;P;P	0.52267	0.368;0.66;0.694	T	0.35773	-0.9775	10	0.19147	T	0.46	.	4.8605	0.13581	0.2845:0.1551:0.5604:0.0	.	1011;652;1012	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1012;652;1011	ENSP00000357643:P1012Q;ENSP00000357642:P652Q	ENSP00000357642:P652Q	P	-	2	0	MKI67	129797059	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.147000	0.16202	-0.192000	0.10432	-0.264000	0.10439	CCA	-	MKI67	-	pfam_K167R		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	0	0	1	30	30	221	0.00	0.45	G	NM_002417		129907069	-1	5	18	17	75	tier1	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	22.73	19.35	SNP	0.000	T	5	17
DFNA5	1687	genome.wustl.edu	37	7	24784186	24784186	+	Silent	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr7:24784186G>A	ENST00000342947.3	-	3	824	c.399C>T	c.(397-399)gcC>gcT	p.A133A	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.A133A|DFNA5_ENST00000419307.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	133					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CTTACCTCTCGGCAGAGTCTC	0.488													ENSG00000105928																									GBM(78;184 1250 20134 20900 23600)												0													116.0	113.0	114.0					7																	24784186		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.399C>T	7.37:g.24784186G>A			A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	pfam_Gasdermin	p.A133	ENST00000342947.3	37	c.399	CCDS5389.1	7																																																																																			-	DF5	-	pfam_Gasdermin		0.488	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DF5	HGNC	protein_coding	OTTHUMT00000214060.2	0	0	0	58	58	190	0.00	0.00	G	NM_004403		24784186	-1	32	73	46	104	tier1	no_errors	ENST00000342947	ensembl	human	known	74_37	silent	41.03	41.01	SNP	0.000	A	32	46
MTUS2	23281	genome.wustl.edu	37	13	29599892	29599892	+	Missense_Mutation	SNP	C	C	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr13:29599892C>T	ENST00000431530.3	+	1	1145	c.1087C>T	c.(1087-1089)Cac>Tac	p.H363Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	353						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGGGAAGCACACCCGGAAGC	0.567													ENSG00000132938																																					0													50.0	54.0	53.0					13																	29599892		2076	4209	6285	SO:0001583	missense	0			-	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1087C>T	13.37:g.29599892C>T	ENSP00000392057:p.His363Tyr		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.H363Y	ENST00000431530.3	37	c.1087	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	c	0.223	-1.026984	0.02045	.	.	ENSG00000132938	ENST00000431530	T	0.11385	2.78	4.81	2.03	0.26663	.	2.113130	0.01909	N	0.039738	T	0.05044	0.0135	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32745	-0.9895	9	.	.	.	.	3.5666	0.07903	0.1891:0.5113:0.0:0.2996	.	353	Q5JR59	MTUS2_HUMAN	Y	363	ENSP00000392057:H363Y	.	H	+	1	0	MTUS2	28497892	0.014000	0.17966	0.000000	0.03702	0.001000	0.01503	0.664000	0.25068	0.605000	0.29947	0.591000	0.81541	CAC	-	MTUS2	-	NULL		0.567	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	0	0	0	33	33	146	0.00	0.00	C	XM_166270		29599892	+1	3	26	10	51	tier1	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	23.08	33.77	SNP	0.000	T	3	10
RBFOX1	54715	genome.wustl.edu	37	16	7637263	7637263	+	Silent	SNP	C	C	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr16:7637263C>T	ENST00000550418.1	+	7	1417	c.429C>T	c.(427-429)atC>atT	p.I143I	RBFOX1_ENST00000340209.4_Silent_p.I148I|RBFOX1_ENST00000535565.2_Silent_p.I131I|RBFOX1_ENST00000422070.4_Silent_p.I186I|RBFOX1_ENST00000436368.2_Silent_p.I163I|RBFOX1_ENST00000355637.4_Silent_p.I163I|RBFOX1_ENST00000547372.1_Silent_p.I186I|RBFOX1_ENST00000547338.1_Silent_p.I143I|RBFOX1_ENST00000311745.5_Silent_p.I163I|RBFOX1_ENST00000553186.1_Silent_p.I143I|RBFOX1_ENST00000552089.1_Intron	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	143	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTGGTAAAATCTTAGATGTTG	0.284													ENSG00000078328																									Ovarian(157;934 2567 15163 39509)												0													62.0	67.0	65.0					16																	7637263		2197	4294	6491	SO:0001819	synonymous_variant	0			-	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.429C>T	16.37:g.7637263C>T			Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_R-bd_Fox-1,pfscan_RRM_dom	p.I186	ENST00000550418.1	37	c.558	CCDS55983.1	16																																																																																			-	RBFOX1	-	pfam_RRM_dom,smart_RRM_dom,pirsf_R-bd_Fox-1,pfscan_RRM_dom		0.284	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	0	0	0	128	128	90	0.00	0.00	C	NM_145891		7637263	+1	26	9	122	48	tier1	no_errors	ENST00000547372	ensembl	human	known	74_37	silent	17.57	15.79	SNP	1.000	T	26	122
ALPK1	80216	genome.wustl.edu	37	4	113303659	113303659	+	Missense_Mutation	SNP	A	A	G			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr4:113303659A>G	ENST00000458497.1	+	4	506	c.227A>G	c.(226-228)gAc>gGc	p.D76G	ALPK1_ENST00000177648.9_Missense_Mutation_p.D76G|ALPK1_ENST00000504176.2_Intron	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	76							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGCCCAGAGGACAAAACAAAC	0.537													ENSG00000073331																																					0													89.0	74.0	79.0					4																	113303659		2203	4300	6503	SO:0001583	missense	0			-	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.227A>G	4.37:g.113303659A>G	ENSP00000398048:p.Asp76Gly		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.D76G	ENST00000458497.1	37	c.227	CCDS3697.1	4	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433128	0.83776	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000309610	T;T	0.27557	1.66;1.66	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.61768	-0.6995	10	0.87932	D	0	-27.5908	15.839	0.78831	1.0:0.0:0.0:0.0	.	51;76;76	E7EX13;Q96QP1;B3KUH8	.;ALPK1_HUMAN;.	G	76;76;51	ENSP00000398048:D76G;ENSP00000177648:D76G	ENSP00000177648:D76G	D	+	2	0	ALPK1	113523108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.406000	0.90216	2.130000	0.65690	0.533000	0.62120	GAC	-	ALPK1	-	NULL		0.537	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	0	0	0	109	109	183	0.00	0.00	A	NM_025144		113303659	+1	15	24	108	96	tier1	no_errors	ENST00000177648	ensembl	human	known	74_37	missense	12.20	20.00	SNP	1.000	G	15	108
EML4	27436	genome.wustl.edu	37	2	42522363	42522363	+	Silent	SNP	C	C	T	rs201724206		TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr2:42522363C>T	ENST00000318522.5	+	12	1579	c.1317C>T	c.(1315-1317)agC>agT	p.S439S	EML4_ENST00000402711.2_Silent_p.S381S|EML4_ENST00000401738.3_Silent_p.S450S	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	439					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GGACCTGGAGCGGCAATTCAC	0.333			T	ALK	NSCLC								ENSG00000143924	C|||	1	0.000199681	0.0008	0.0	5008	,	,		18251	0.0		0.0	False		,,,				2504	0.0							Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													101.0	103.0	103.0					2																	42522363		2203	4300	6503	SO:0001819	synonymous_variant	0			GMAF=0.0005	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1317C>T	2.37:g.42522363C>T			A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S439	ENST00000318522.5	37	c.1317	CCDS1807.1	2																																																																																			rs201724206	EML4	-	superfamily_Quinonprotein_ADH-like_supfam		0.333	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	0	0	0	95	95	174	0.00	0.00	C	NM_019063		42522363	+1	22	55	45	50	tier1	no_errors	ENST00000318522	ensembl	human	known	74_37	silent	32.35	51.89	SNP	1.000	T	22	45
AFAP1L2	84632	genome.wustl.edu	37	10	116093020	116093020	+	Silent	SNP	C	C	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr10:116093020C>T	ENST00000304129.4	-	3	209	c.180G>A	c.(178-180)gtG>gtA	p.V60V	AFAP1L2_ENST00000545353.1_Silent_p.V60V|AFAP1L2_ENST00000369271.3_Silent_p.V60V			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	60					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGTTGATGGTCACTTTGTTCA	0.502													ENSG00000169129																																					0													301.0	230.0	254.0					10																	116093020		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.180G>A	10.37:g.116093020C>T			A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V60	ENST00000304129.4	37	c.180	CCDS31286.1	10																																																																																			-	AFAP1L2	-	NULL		0.502	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1	0	0	0	48	48	130	0.00	0.00	C	NM_032550		116093020	-1	4	17	22	62	tier1	no_errors	ENST00000545353	ensembl	human	known	74_37	silent	15.38	21.52	SNP	0.972	T	4	22
COL4A3BP	10087	genome.wustl.edu	37	5	74696029	74696029	+	Splice_Site	SNP	C	C	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr5:74696029C>A	ENST00000405807.4	-	10	1532		c.e10+1		COL4A3BP_ENST00000261415.7_Splice_Site|COL4A3BP_ENST00000380494.5_Splice_Site	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein						cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CATTAGCTTACCTTTTGGACA	0.398													ENSG00000113163																																					0													105.0	101.0	102.0					5																	74696029		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1110+1G>T	5.37:g.74696029C>A			A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Splice_Site	SNP	-	e11+1	ENST00000405807.4	37	c.1494+1	CCDS4028.1	5	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733506	0.89482	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.134	0.93418	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL4A3BP	74731785	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.529000	0.73812	2.531000	0.85337	0.650000	0.86243	.	-	COL4A3BP	-	-		0.398	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2	0	0	0	139	139	209	0.00	0.00	C	NM_005713	Intron	74696029	-1	10	15	71	64	tier1	no_errors	ENST00000380494	ensembl	human	known	74_37	splice_site	12.20	18.99	SNP	1.000	A	10	71
C6orf132	647024	genome.wustl.edu	37	6	42074123	42074123	+	Silent	SNP	C	C	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr6:42074123C>A	ENST00000341865.4	-	4	1526	c.1527G>T	c.(1525-1527)ctG>ctT	p.L509L		NM_001164446.1	NP_001157918.1	Q5T0Z8	CF132_HUMAN	chromosome 6 open reading frame 132	509										breast(1)	1						CCTTCTCAGGCAGGCGGGGGC	0.617													ENSG00000188112																																					0													7.0	9.0	8.0					6																	42074123		688	1585	2273	SO:0001819	synonymous_variant	0			-		CCDS47428.1	6p21.1	2012-02-06			ENSG00000188112	ENSG00000188112			21288	protein-coding gene	gene with protein product							Standard	NM_001164446		Approved	bA7K24.2	uc003orw.2	Q5T0Z8	OTTHUMG00000014695	ENST00000341865.4:c.1527G>T	6.37:g.42074123C>A			A6NI05	Silent	SNP	NULL	p.L509	ENST00000341865.4	37	c.1527	CCDS47428.1	6																																																																																			-	C6orf132	-	NULL		0.617	C6orf132-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	C6orf132	HGNC	protein_coding	OTTHUMT00000040548.2	0	0	0	12	12	31	0.00	0.00	C	NM_001164446		42074123	-1	6	9	13	15	tier1	no_errors	ENST00000341865	ensembl	human	putative	74_37	silent	31.58	37.50	SNP	0.000	A	6	13
PTPRF	5792	genome.wustl.edu	37	1	44054430	44054430	+	Silent	SNP	C	C	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:44054430C>T	ENST00000359947.4	+	8	1048	c.708C>T	c.(706-708)atC>atT	p.I236I	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372413.3_Silent_p.I236I|PTPRF_ENST00000372414.3_Silent_p.I236I|PTPRF_ENST00000438120.1_Silent_p.I236I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	236	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTTTCTCCATCCCTCCCAGCA	0.667													ENSG00000142949																																					0													56.0	49.0	51.0					1																	44054430		2203	4300	6503	SO:0001819	synonymous_variant	0			-	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.708C>T	1.37:g.44054430C>T			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.I236	ENST00000359947.4	37	c.708	CCDS489.2	1																																																																																			-	PTPRF	-	pfam_Ig_I-set,pfscan_Ig-like_dom		0.667	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	0	0	0	21	21	25	0.00	0.00	C			44054430	+1	6	2	20	10	tier1	no_errors	ENST00000359947	ensembl	human	known	74_37	silent	23.08	16.67	SNP	1.000	T	6	20
NTRK2	4915	genome.wustl.edu	37	9	87342760	87342761	+	In_Frame_Ins	INS	-	-	ATA			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	-	-	-	ATA	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr9:87342760_87342761insATA	ENST00000323115.4	+	8	1398_1399	c.1045_1046insATA	c.(1045-1047)gat>gATAat	p.350_351insN	NTRK2_ENST00000304053.6_In_Frame_Ins_p.350_351insN|NTRK2_ENST00000277120.3_In_Frame_Ins_p.350_351insN|NTRK2_ENST00000376208.1_In_Frame_Ins_p.350_351insN|NTRK2_ENST00000395882.1_In_Frame_Ins_p.350_351insN|NTRK2_ENST00000395866.2_In_Frame_Ins_p.194_195insN|NTRK2_ENST00000376214.1_In_Frame_Ins_p.350_351insN|NTRK2_ENST00000376213.1_In_Frame_Ins_p.350_351insN|NTRK2_ENST00000359847.3_In_Frame_Ins_p.350_351insN			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	350	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CCTCCAGCTGGATAATCCCACT	0.446										TSP Lung(25;0.17)			ENSG00000148053																																					0																																										SO:0001652	inframe_insertion	0				AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1046_1048dupATA	9.37:g.87342761_87342763dupATA	ENSP00000314586:p.Asn350_Asn350dup		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	In_Frame_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.351in_frame_insN	ENST00000323115.4	37	c.1045_1046	CCDS35050.1	9																																																																																				NTRK2	-	pfam_Ig_I-set,prints_Tyr_kinase_NGF_rcpt		0.446	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	0	0	0	56	56	258	0.00	0.00	-			87342761	+1	15	37	39	116	tier1	no_errors	ENST00000277120	ensembl	human	known	74_37	in_frame_ins	27.78	24.18	INS	1.000:1.000	ATA	15	39
SAMD9	54809	genome.wustl.edu	37	7	92731597	92731598	+	Frame_Shift_Ins	INS	-	-	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr7:92731597_92731598insA	ENST00000379958.2	-	3	4082_4083	c.3813_3814insT	c.(3811-3816)tttgatfs	p.D1272fs		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1272						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGTATTCATCAAAAAAATCAA	0.312													ENSG00000205413																																					0									,	4,4208		0,4,2102					,	2.7	1.0			47	2,8214		0,2,4106	no	frameshift,frameshift	SAMD9	NM_017654.3,NM_001193307.1	,	0,6,6208	A1A1,A1R,RR		0.0243,0.095,0.0483	,	,		6,12422				SO:0001589	frameshift_variant	0				AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3814dupT	7.37:g.92731604_92731604dupA	ENSP00000369292:p.Asp1272fs		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Frame_Shift_Ins	INS	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.D1271fs	ENST00000379958.2	37	c.3814_3813	CCDS34680.1	7																																																																																				SAMD9	-	NULL		0.312	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	0	0	0	82	82	153	0.00	0.00	-	NM_017654		92731598	-1	16	22	68	70	tier1	no_errors	ENST00000379958	ensembl	human	known	74_37	frame_shift_ins	19.05	23.91	INS	1.000:1.000	A	16	68
ZNF534	147658	genome.wustl.edu	37	19	52941698	52941698	+	Missense_Mutation	SNP	A	A	G			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr19:52941698A>G	ENST00000332323.6	+	4	1085	c.1024A>G	c.(1024-1026)Aag>Gag	p.K342E	ZNF534_ENST00000433050.1_Missense_Mutation_p.K329E|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TTATGATTGTAAGGAATGTGG	0.418													ENSG00000198633																																					0													59.0	53.0	55.0					19																	52941698		1568	3582	5150	SO:0001583	missense	0			-	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1024A>G	19.37:g.52941698A>G	ENSP00000327538:p.Lys342Glu		Q76KX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K342E	ENST00000332323.6	37	c.1024	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	A	9.279	1.047720	0.19827	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.08370	3.1;3.1	1.82	-0.687	0.11320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03136	0.0092	N	0.04355	-0.22	0.09310	N	1	B;B	0.18461	0.009;0.028	B;B	0.18263	0.015;0.021	T	0.45279	-0.9272	9	0.25751	T	0.34	.	3.4954	0.07653	0.5098:0.2026:0.2876:0.0	.	329;342	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	E	342;329;341	ENSP00000327538:K342E;ENSP00000391358:K329E	ENSP00000327538:K342E	K	+	1	0	ZNF534	57633510	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-5.268000	0.00136	-0.483000	0.06772	-0.456000	0.05471	AAG	-	ZNF534	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	0	0	0	66	66	136	0.00	0.00	A	NM_182512		52941698	+1	10	4	95	74	tier1	no_errors	ENST00000332323	ensembl	human	known	74_37	missense	9.43	5.13	SNP	0.001	G	10	95
LRRK2	120892	genome.wustl.edu	37	12	40692910	40692910	+	Splice_Site	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:40692910G>A	ENST00000298910.7	+	25	3405		c.e25-1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTGTGACTAGAAATAAAATA	0.313													ENSG00000188906																																					0													77.0	82.0	80.0					12																	40692910		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3348-1G>A	12.37:g.40692910G>A			A6NJU2|Q6ZS50|Q8NCX9	Splice_Site	SNP	-	e25-1	ENST00000298910.7	37	c.3348-1	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756488	0.49362	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4993	0.90876	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRK2	38979177	1.000000	0.71417	0.996000	0.52242	0.568000	0.35870	7.722000	0.84778	2.365000	0.80145	0.491000	0.48974	.	-	LRRK2	-	-		0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	0	0	0	70	70	165	0.00	0.00	G	XM_058513	Intron	40692910	+1	15	13	88	123	tier1	no_errors	ENST00000298910	ensembl	human	known	74_37	splice_site	14.56	9.49	SNP	1.000	A	15	88
MYH1	4619	genome.wustl.edu	37	17	10411236	10411236	+	Silent	SNP	A	A	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr17:10411236A>T	ENST00000226207.5	-	17	2029	c.1935T>A	c.(1933-1935)ggT>ggA	p.G645G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	645	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGAAAGAAGAACCCTTCTTCT	0.403													ENSG00000109061																																					0													72.0	80.0	77.0					17																	10411236		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1935T>A	17.37:g.10411236A>T			Q14CA4|Q9Y622	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G645	ENST00000226207.5	37	c.1935	CCDS11155.1	17																																																																																			-	MYH1	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.403	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	0	0	1	147	147	108	0.00	0.92	A	NM_005963		10411236	-1	37	10	237	116	tier1	no_errors	ENST00000226207	ensembl	human	known	74_37	silent	13.45	7.94	SNP	1.000	T	37	237
KLHL22	84861	genome.wustl.edu	37	22	20825717	20825717	+	Missense_Mutation	SNP	G	G	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr22:20825717G>T	ENST00000328879.4	-	3	469	c.313C>A	c.(313-315)Cta>Ata	p.L105I	KLHL22_ENST00000440659.2_Intron	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	105	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATGAAATGTAGGATTTGGCAC	0.507													ENSG00000099910																																					0													162.0	141.0	148.0					22																	20825717		2203	4300	6503	SO:0001583	missense	0			-		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.313C>A	22.37:g.20825717G>T	ENSP00000331682:p.Leu105Ile		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L105I	ENST00000328879.4	37	c.313	CCDS13780.1	22	.	.	.	.	.	.	.	.	.	.	G	3.624	-0.077016	0.07184	.	.	ENSG00000099910	ENST00000328879;ENST00000451553;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430	T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.3	4.29	0.51040	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.154073	0.44097	D	0.000495	T	0.68449	0.3002	L	0.37466	1.105	0.80722	D	1	B	0.31769	0.339	B	0.38296	0.27	T	0.61038	-0.7143	10	0.02654	T	1	.	6.9801	0.24698	0.0885:0.0:0.7403:0.1712	.	105	Q53GT1	KLH22_HUMAN	I	105;28;137;105;139;105	ENSP00000331682:L105I;ENSP00000400095:L28I;ENSP00000403999:L137I;ENSP00000398616:L105I;ENSP00000397882:L139I;ENSP00000409092:L105I	ENSP00000331682:L105I	L	-	1	2	KLHL22	19155717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.086000	0.50159	1.243000	0.43853	0.650000	0.86243	CTA	-	KLHL22	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.507	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL22	HGNC	protein_coding	OTTHUMT00000320045.2	0	0	0	66	66	131	0.00	0.00	G	NM_032775		20825717	-1	9	11	77	135	tier1	no_errors	ENST00000328879	ensembl	human	known	74_37	missense	10.47	7.53	SNP	1.000	T	9	77
SLC52A2	79581	genome.wustl.edu	37	8	145583332	145583332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr8:145583332delG	ENST00000532887.1	+	3	763	c.180delG	c.(178-180)ctgfs	p.L60fs	SLC52A2_ENST00000530047.1_Frame_Shift_Del_p.L60fs|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Frame_Shift_Del_p.L60fs|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000402965.1_Frame_Shift_Del_p.L60fs|SLC52A2_ENST00000526891.1_3'UTR|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000329994.2_Frame_Shift_Del_p.L60fs|SLC52A2_ENST00000540505.1_5'UTR|FBXL6_ENST00000455319.2_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	60					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TGGGGAACCTGGGTCTGCTGG	0.647													ENSG00000185803																																					0													151.0	140.0	144.0					8																	145583332		2203	4300	6503	SO:0001589	frameshift_variant	0				AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.180delG	8.37:g.145583332delG	ENSP00000436768:p.Leu60fs		A8K6B6|D3DWL8|G1UCY1|Q86UT1	Frame_Shift_Del	DEL	pfam_Endogenous_retrovirus_rcpt	p.G61fs	ENST00000532887.1	37	c.180	CCDS6423.1	8																																																																																				SLC52A2	-	NULL		0.647	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC52A2	HGNC	protein_coding	OTTHUMT00000382405.1	0	0	0	57	57	92	0.00	0.00	G	NM_024531		145583332	+1	10	4	54	53	tier1	no_errors	ENST00000329994	ensembl	human	known	74_37	frame_shift_del	15.62	7.02	DEL	1.000	-	10	54
MAP3K5	4217	genome.wustl.edu	37	6	136934374	136934374	+	Missense_Mutation	SNP	G	G	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr6:136934374G>A	ENST00000359015.4	-	17	2659	c.2299C>T	c.(2299-2301)Cgt>Tgt	p.R767C	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R14C	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	767	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CATTTGGAACGAAGGAGAGCA	0.318													ENSG00000197442																																					0													89.0	84.0	86.0					6																	136934374		2203	4300	6503	SO:0001583	missense	0			-	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2299C>T	6.37:g.136934374G>A	ENSP00000351908:p.Arg767Cys		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R767C	ENST00000359015.4	37	c.2299	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684138	0.68157	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.66815	-0.23;-0.23	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101256	0.64402	D	0.000003	T	0.75236	0.3822	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.76575	0.988;0.896	T	0.78011	-0.2371	10	0.87932	D	0	.	13.2619	0.60111	0.0:0.0:0.7227:0.2773	.	847;767	Q59GL6;Q99683	.;M3K5_HUMAN	C	767;14;847	ENSP00000351908:R767C;ENSP00000348104:R14C	ENSP00000348104:R14C	R	-	1	0	MAP3K5	136976067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.620000	0.36976	2.667000	0.90743	0.655000	0.94253	CGT	-	MAP3K5	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom		0.318	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	0	0	2	99	99	200	0.00	0.99	G			136934374	-1	11	8	100	113	tier1	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	9.91	6.56	SNP	0.997	A	11	100
SPTBN2	6712	genome.wustl.edu	37	11	66460047	66460047	+	Missense_Mutation	SNP	G	G	A	rs376579703		TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr11:66460047G>A	ENST00000533211.1	-	26	5481	c.5150C>T	c.(5149-5151)gCg>gTg	p.A1717V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1717V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1717V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1717					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTGGGAGGCCGCCACCACCTC	0.672													ENSG00000173898																																					0								G	VAL/ALA	1,4399	2.1+/-5.4	0,1,2199	62.0	57.0	59.0		5150	4.9	1.0	11		59	0,8590		0,0,4295	no	missense	SPTBN2	NM_006946.2	64	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1717/2391	66460047	1,12989	2200	4295	6495	SO:0001583	missense	0			-	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5150C>T	11.37:g.66460047G>A	ENSP00000432568:p.Ala1717Val		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A1717V	ENST00000533211.1	37	c.5150	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.332684	0.95733	2.27E-4	0.0	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.48836	0.8;0.8;0.8	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63180	-0.6695	10	0.31617	T	0.26	.	17.0374	0.86480	0.0:0.0:1.0:0.0	.	1717	O15020	SPTN2_HUMAN	V	1717	ENSP00000432568:A1717V;ENSP00000311489:A1717V;ENSP00000433593:A1717V	ENSP00000311489:A1717V	A	-	2	0	SPTBN2	66216623	1.000000	0.71417	0.973000	0.42090	0.931000	0.56810	9.563000	0.98148	2.550000	0.86006	0.462000	0.41574	GCG	-	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	0	0	1	24	24	28	0.00	3.45	G	NM_006946		66460047	-1	21	20	12	14	tier1	no_errors	ENST00000309996	ensembl	human	known	74_37	missense	61.76	58.82	SNP	1.000	A	21	12
FAM230A	653203	genome.wustl.edu	37	22	20710005	20710005	+	Silent	SNP	C	C	A			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr22:20710005C>A	ENST00000434783.3	+	8	1921	c.1737C>A	c.(1735-1737)ccC>ccA	p.P579P	USP41_ENST00000486536.2_Intron|USP41_ENST00000454608.2_Intron					family with sequence similarity 230, member A																		GGAGGCCGCCCAGGCCATCGC	0.672													ENSG00000188280																																					0																																										SO:0001819	synonymous_variant	0			-	JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.1737C>A	22.37:g.20710005C>A				Silent	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.P579	ENST00000434783.3	37	c.1737		22																																																																																			-	FAM230A	-	superfamily_Kinase-like_dom		0.672	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	0	0	0	47	47	6	0.00	0.00	C			20710005	+1	12	1	45	2	tier1	no_errors	ENST00000434783	ensembl	human	known	74_37	silent	21.05	33.33	SNP	0.114	A	12	45
LCMT2	9836	genome.wustl.edu	37	15	43622562	43622562	+	Silent	SNP	A	A	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr15:43622562A>T	ENST00000305641.5	-	1	241	c.126T>A	c.(124-126)gtT>gtA	p.V42V	ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000544735.1_Intron|LCMT2_ENST00000567039.1_Intron|ADAL_ENST00000422466.2_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	42					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CCGCGCCCGGAACCAGCAACG	0.697													ENSG00000168806																																					0													21.0	27.0	25.0					15																	43622562		2092	4093	6185	SO:0001819	synonymous_variant	0			-	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.126T>A	15.37:g.43622562A>T			Q4JFT6|Q96B55|Q9NR10	Silent	SNP	pfam_LCM_MeTrfase	p.V42	ENST00000305641.5	37	c.126	CCDS10094.1	15																																																																																			-	LCMT2	-	pfam_LCM_MeTrfase		0.697	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT2	HGNC	protein_coding	OTTHUMT00000253205.1	0	0	0	39	39	6	0.00	0.00	A	NM_014793		43622562	-1	8	0	33	5	tier1	no_errors	ENST00000305641	ensembl	human	known	74_37	silent	19.05	0.00	SNP	0.003	T	8	33
METTL13	51603	genome.wustl.edu	37	1	171753532	171753532	+	Missense_Mutation	SNP	C	C	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr1:171753532C>T	ENST00000361735.3	+	2	1072	c.806C>T	c.(805-807)tCt>tTt	p.S269F	METTL13_ENST00000367737.5_Intron|METTL13_ENST00000362019.3_Missense_Mutation_p.S183F|METTL13_ENST00000458517.1_Missense_Mutation_p.S268F	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	269							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGGAGTGTGTCTCTGGACTTG	0.647													ENSG00000010165																																					0													22.0	21.0	21.0					1																	171753532		2199	4298	6497	SO:0001583	missense	0			-	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.806C>T	1.37:g.171753532C>T	ENSP00000354920:p.Ser269Phe		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.S269F	ENST00000361735.3	37	c.806	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439719	0.83885	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T	0.35236	2.08;1.32;2.08;2.95	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	M	0.62209	1.925	0.80722	D	1	D;D	0.69078	0.994;0.997	P;D	0.63597	0.864;0.916	T	0.23226	-1.0194	10	0.29301	T	0.29	-46.9349	18.6211	0.91321	0.0:1.0:0.0:0.0	.	268;269	B4E2X3;Q8N6R0	.;MTL13_HUMAN	F	268;183;269;186;183	ENSP00000401955:S268F;ENSP00000355393:S183F;ENSP00000354920:S269F;ENSP00000356710:S186F	ENSP00000341732:S183F	S	+	2	0	METTL13	170020155	0.999000	0.42202	0.998000	0.56505	0.996000	0.88848	4.260000	0.58835	2.465000	0.83290	0.655000	0.94253	TCT	-	METTL13	-	NULL		0.647	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5	0	0	0	51	51	17	0.00	0.00	C	NM_014955		171753532	+1	10	0	34	9	tier1	no_errors	ENST00000361735	ensembl	human	known	74_37	missense	22.73	0.00	SNP	1.000	T	10	34
SLC12A4	6560	genome.wustl.edu	37	16	67981265	67981265	+	Missense_Mutation	SNP	C	C	T			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr16:67981265C>T	ENST00000316341.3	-	16	2181	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K	CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Missense_Mutation_p.E683K|SLC12A4_ENST00000338335.3_Missense_Mutation_p.E681K|SLC12A4_ENST00000537830.2_Missense_Mutation_p.E675K|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E650K|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E681K|SLC12A4_ENST00000572037.1_Missense_Mutation_p.E633K	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	681					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCCCCTCCTCCAGCCGCAAC	0.672													ENSG00000124067																																					0													31.0	39.0	36.0					16																	67981265		2193	4299	6492	SO:0001583	missense	0			-		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2041G>A	16.37:g.67981265C>T	ENSP00000318557:p.Glu681Lys		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.E683K	ENST00000316341.3	37	c.2047	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987437	0.93106	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96	5.76	5.76	0.90799	Amino acid permease domain (1);	0.046590	0.85682	N	0.000000	D	0.98833	0.9606	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D	0.89917	0.984;1.0;0.996;0.999;0.999;0.998	D;D;D;D;D;D	0.81914	0.939;0.995;0.954;0.979;0.979;0.978	D	0.99827	1.1051	10	0.66056	D	0.02	.	19.9738	0.97296	0.0:1.0:0.0:0.0	.	683;681;650;675;681;681	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	K	683;650;675;681;681	ENSP00000395983:E683K;ENSP00000438334:E650K;ENSP00000445962:E675K;ENSP00000343374:E681K;ENSP00000318557:E681K	ENSP00000318557:E681K	E	-	1	0	SLC12A4	66538766	1.000000	0.71417	0.977000	0.42913	0.245000	0.25701	7.768000	0.85345	2.732000	0.93576	0.655000	0.94253	GAG	-	SLC12A4	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS		0.672	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	0	0	0	12	12	16	0.00	0.00	C	NM_005072		67981265	-1	4	0	9	6	tier1	no_errors	ENST00000422611	ensembl	human	known	74_37	missense	30.77	0.00	SNP	1.000	T	4	9
AC136188.1	0	genome.wustl.edu	37	12	74293700	74293709	+	RNA	DEL	ACACACACAC	ACACACACAC	-	rs146159159|rs61932867|rs375254855|rs61932865|rs61932866|rs199815745|rs61932868|rs142009105|rs71437008	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	ACACACACAC	ACACACACAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr12:74293700_74293709delACACACACAC	ENST00000606199.1	+	0	51_60																											atatacacatacacacacacacacacacac	0.295													ENSG00000272231																																					0																																												0																																12.37:g.74293710_74293719delACACACACAC				R	DEL	-	NULL	ENST00000606199.1	37	NULL		12																																																																																				AC136188.1	-	-		0.295	AC136188.1-201	NOVEL	basic	miRNA	ENSG00000272231	Clone_based_ensembl_gene	miRNA		0	0	0	0	0	0	0.00	0.00	ACACACACAC			74293709	+1	0	0	0	0	tier1	no_errors	ENST00000606199	ensembl	human	novel	74_37	rna	0.00	0.00	DEL	0.011:0.011:0.017:0.021:0.026:0.029:0.033:0.036:0.039:0.041	-	0	0
LRRC16A	55604	genome.wustl.edu	37	6	25279425	25279447	+	5'Flank	DEL	CGGAGGCCGGCCTCGCACCGGTG	CGGAGGCCGGCCTCGCACCGGTG	-	rs559614087	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	CGGAGGCCGGCCTCGCACCGGTG	CGGAGGCCGGCCTCGCACCGGTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr6:25279425_25279447delCGGAGGCCGGCCTCGCACCGGTG	ENST00000329474.6	+	0	0				LRRC16A_ENST00000377969.3_5'Flank	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCTCGGGCACCGGAGGCCGGCCTCGCACCGGTGCGGAGGCCGG	0.749													ENSG00000079691		26	0.00519169	0.0182	0.0014	5008	,	,		14170	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001631	upstream_gene_variant	0				AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393		6.37:g.25279425_25279447delCGGAGGCCGGCCTCGCACCGGTG	Exception_encountered		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	R	DEL	-	NULL	ENST00000329474.6	37	NULL	CCDS54973.1	6																																																																																				LRRC16A	-	-		0.749	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	0	0	0	2	2	2	0.00	0.00	CGGAGGCCGGCCTCGCACCGGTG	NM_017640		25279447	+1	0	0	0	0	tier1	no_errors	ENST00000461945	ensembl	human	known	74_37	rna	0.00	0.00	DEL	0.002:0.067:0.543:0.412:0.391:0.373:0.090:0.001:0.000:0.000:0.001:0.001:0.000:0.001:0.002:0.001:0.001:0.000:0.000:0.000:0.001:0.000:0.021	-	0	0
RCVRN	5957	genome.wustl.edu	37	17	9801318	9801318	+	3'UTR	SNP	C	C	T	rs549924573	byFrequency	TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr17:9801318C>T	ENST00000226193.5	-	0	1137				RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin						phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						tgtgtgtgtgcgcgcgcgtgt	0.592													ENSG00000109047	C|||	18	0.00359425	0.0061	0.0014	5008	,	,		16139	0.003		0.002	False		,,,				2504	0.0041																0																																										SO:0001624	3_prime_UTR_variant	0			-	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.*94G>A	17.37:g.9801318C>T			Q53XL0	R	SNP	-	NULL	ENST00000226193.5	37	NULL	CCDS11151.1	17																																																																																			-	RCVRN	-	-		0.592	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCVRN	HGNC	protein_coding	OTTHUMT00000252600.2	0	0	0	33	33	0	0.00	0.00	C	NM_002903		9801318	-1	9	0	26	0	tier1	no_errors	ENST00000570909	ensembl	human	putative	74_37	rna	25.71	0.00	SNP	0.000	T	9	26
ASTN2	23245	genome.wustl.edu	37	9	119495717	119495717	+	Frame_Shift_Del	DEL	C	C	-			TCGA-X6-A8C3-01A-11D-A36J-09	TCGA-X6-A8C3-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0106ac31-330d-4d39-b9d4-3d3e84e20d39	f855dc78-d931-4312-8cb7-5f7187895b37	g.chr9:119495717delC	ENST00000313400.4	-	14	2582	c.2482delG	c.(2482-2484)gtcfs	p.V828fs	ASTN2_ENST00000361209.2_Frame_Shift_Del_p.V777fs|ASTN2_ENST00000373996.3_Frame_Shift_Del_p.V824fs|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	828					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCGGAGAGGACCCCCCGGCAC	0.612													ENSG00000148219																																					0													91.0	98.0	96.0					9																	119495717		2203	4300	6503	SO:0001589	frameshift_variant	0				AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2482delG	9.37:g.119495717delC	ENSP00000314038:p.Val828fs		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Frame_Shift_Del	DEL	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.V828fs	ENST00000313400.4	37	c.2482		9																																																																																				ASTN2	-	NULL		0.612	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		0	0	0	46	46	37	0.00	0.00	C	NM_014010		119495717	-1	9	2	58	21	tier1	no_errors	ENST00000313400	ensembl	human	known	74_37	frame_shift_del	13.43	8.70	DEL	1.000	-	9	58
