#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
BOLL	66037	genome.wustl.edu	37	2	198607837	198607837	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr2:198607837G>A	ENST00000392296.4	-	10	1085	c.776C>T	c.(775-777)gCt>gTt	p.A259V	BOLL_ENST00000430004.1_Missense_Mutation_p.A281V|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000321801.7_Missense_Mutation_p.A271V|BOLL_ENST00000282278.8_Missense_Mutation_p.A150V|BOLL_ENST00000433157.1_Missense_Mutation_p.A259V	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	259					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						GGCACTTGGAGCATAAACCTG	0.343													ENSG00000152430																																					0													83.0	82.0	82.0					2																	198607837		2203	4300	6503	SO:0001583	missense	0			-		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.776C>T	2.37:g.198607837G>A	ENSP00000376116:p.Ala259Val		B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.A271V	ENST00000392296.4	37	c.812	CCDS2325.1	2	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442326	0.63067	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000282278;ENST00000433157	T;T;T;T	0.28255	1.62;1.79;1.79;1.79	5.25	5.25	0.73442	.	0.155243	0.43416	D	0.000570	T	0.26376	0.0644	N	0.19112	0.55	0.32582	N	0.528316	P;P;B;B;B	0.48089	0.51;0.905;0.29;0.19;0.137	B;B;B;B;B	0.44044	0.197;0.439;0.13;0.068;0.057	T	0.28964	-1.0027	10	0.66056	D	0.02	.	16.7967	0.85604	0.0:0.0:1.0:0.0	.	150;287;271;259;265	B4DZA4;Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;.;BOLL_HUMAN;.	V	281;259;271;150;259	ENSP00000397711:A281V;ENSP00000376116:A259V;ENSP00000314792:A271V;ENSP00000396099:A259V	ENSP00000282278:A150V	A	-	2	0	BOLL	198316082	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.555000	0.67301	2.722000	0.93159	0.561000	0.74099	GCT	-	BOLL	-	NULL		0.343	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	HGNC	protein_coding	OTTHUMT00000256107.3	0	0	0	43	43	83	0.00	0.00	G	NM_033030		198607837	-1	8	25	4	34	tier1	no_errors	ENST00000321801	ensembl	human	known	74_37	missense	66.67	42.37	SNP	1.000	A	8	4
STAG1	10274	genome.wustl.edu	37	3	136261014	136261014	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr3:136261014G>A	ENST00000383202.2	-	6	674	c.418C>T	c.(418-420)Cga>Tga	p.R140*	STAG1_ENST00000480733.1_Nonsense_Mutation_p.R140*|STAG1_ENST00000236698.5_Nonsense_Mutation_p.R140*|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	140					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGCATATTTCGAAACATCTCT	0.313													ENSG00000118007																																					0													139.0	134.0	136.0					3																	136261014		2202	4287	6489	SO:0001587	stop_gained	0			-	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.418C>T	3.37:g.136261014G>A	ENSP00000372689:p.Arg140*		O00539|Q6P275	Nonsense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R140*	ENST00000383202.2	37	c.418	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.884418	0.97062	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	.	.	.	5.06	4.05	0.47172	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	10.5368	0.45009	0.0:0.0:0.5947:0.4053	.	.	.	.	X	140	.	ENSP00000236698:R140X	R	-	1	2	STAG1	137743704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.766000	0.47629	2.501000	0.84356	0.462000	0.41574	CGA	-	STAG1	-	NULL		0.313	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	0	0	0	59	59	80	0.00	0.00	G	NM_005862		136261014	-1	7	6	43	49	tier1	no_errors	ENST00000383202	ensembl	human	known	74_37	nonsense	14.00	10.91	SNP	1.000	A	7	43
GRM5	2915	genome.wustl.edu	37	11	88241643	88241643	+	3'UTR	SNP	G	G	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr11:88241643G>A	ENST00000305447.4	-	0	3905				GRM5_ENST00000418177.2_3'UTR|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000305432.5_3'UTR|GRM5_ENST00000455756.2_3'UTR	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5						activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCATTAAGGGGTGCCCTTGGC	0.552													ENSG00000255082																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.*117C>T	11.37:g.88241643G>A			Q6J164	R	SNP	-	NULL	ENST00000305447.4	37	NULL	CCDS44694.1	11																																																																																			-	GRM5-AS1	-	-		0.552	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5-AS1	HGNC	protein_coding	OTTHUMT00000259226.1	0	0	0	26	26	118	0.00	0.00	G	NM_000842		88241643	+1	4	26	15	67	tier1	no_errors	ENST00000526448	ensembl	human	known	74_37	rna	21.05	27.96	SNP	0.000	A	4	15
BRD8	10902	genome.wustl.edu	37	5	137502401	137502401	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr5:137502401G>A	ENST00000254900.5	-	10	1174	c.803C>T	c.(802-804)tCc>tTc	p.S268F	BRD8_ENST00000230901.5_Missense_Mutation_p.S341F|BRD8_ENST00000402931.1_Missense_Mutation_p.S268F|BRD8_ENST00000411594.2_Intron|BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000455658.2_Missense_Mutation_p.S227F	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	268					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAAAAGCCGGGAAAGAGTGGG	0.433													ENSG00000112983																																					0													50.0	43.0	45.0					5																	137502401		2203	4300	6503	SO:0001583	missense	0			-	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.803C>T	5.37:g.137502401G>A	ENSP00000254900:p.Ser268Phe		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S268F	ENST00000254900.5	37	c.803	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018603	0.75275	.	.	ENSG00000112983	ENST00000254900;ENST00000230901;ENST00000402931;ENST00000455658	T;T;T;T	0.42900	1.17;1.15;0.97;0.96	5.65	5.65	0.86999	.	0.050764	0.85682	D	0.000000	T	0.55561	0.1928	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.997;0.999	D;D;D;D;D	0.83275	0.996;0.991;0.991;0.991;0.996	T	0.56013	-0.8049	10	0.72032	D	0.01	-7.8492	18.891	0.92403	0.0:0.0:1.0:0.0	.	227;252;47;341;268	F8W820;B4DN43;B4DMS9;Q9H0E9-2;Q9H0E9	.;.;.;.;BRD8_HUMAN	F	268;341;268;227	ENSP00000254900:S268F;ENSP00000230901:S341F;ENSP00000384845:S268F;ENSP00000408396:S227F	ENSP00000230901:S341F	S	-	2	0	BRD8	137530300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.529000	0.81952	2.941000	0.99782	0.655000	0.94253	TCC	-	BRD8	-	NULL		0.433	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	0	0	0	31	31	134	0.00	0.00	G	NM_006696		137502401	-1	19	70	20	22	tier1	no_errors	ENST00000254900	ensembl	human	known	74_37	missense	48.72	75.27	SNP	1.000	A	19	20
TTN	7273	genome.wustl.edu	37	2	179435239	179435239	+	Missense_Mutation	SNP	G	G	A	rs72646900		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr2:179435239G>A	ENST00000591111.1	-	276	70921	c.70697C>T	c.(70696-70698)cCa>cTa	p.P23566L	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P16142L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P25207L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P22639L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16267L|TTN_ENST00000342175.6_Missense_Mutation_p.P16334L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23566	Fibronectin type-III 71. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTCAGGTGGCCCTGGTCT	0.448													ENSG00000155657																																					0													58.0	55.0	56.0					2																	179435239		1938	4131	6069	SO:0001583	missense	0			-	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70697C>T	2.37:g.179435239G>A	ENSP00000465570:p.Pro23566Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P22639L	ENST00000591111.1	37	c.67916		2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981253	0.34942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.27	4.39	0.52855	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79435	0.4445	H	0.95079	3.62	0.80722	D	1	D;D;D;D	0.56968	0.978;0.978;0.978;0.978	P;P;P;P	0.55749	0.783;0.783;0.783;0.783	D	0.86742	0.1955	9	0.87932	D	0	.	15.7021	0.77549	0.0:0.0:0.862:0.138	.	16142;16267;16334;23566	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	22639;16142;16334;16267;16140	ENSP00000343764:P22639L;ENSP00000434586:P16142L;ENSP00000340554:P16334L;ENSP00000352154:P16267L	ENSP00000340554:P16334L	P	-	2	0	TTN	179143485	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.518000	0.73764	1.337000	0.45525	0.650000	0.86243	CCA	-	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	46	46	112	0.00	0.00	G	NM_133378		179435239	-1	9	13	21	105	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	30.00	11.02	SNP	1.000	A	9	21
AKR1D1	6718	genome.wustl.edu	37	7	137776523	137776523	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr7:137776523A>G	ENST00000242375.3	+	3	313	c.271A>G	c.(271-273)Aca>Gca	p.T91A	AKR1D1_ENST00000411726.2_Missense_Mutation_p.T91A|RN7SKP223_ENST00000410582.1_RNA|AKR1D1_ENST00000432161.1_Missense_Mutation_p.T91A|AKR1D1_ENST00000468877.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	91					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	GCTATGGGCTACAAATCATGT	0.448													ENSG00000122787																																					0													96.0	93.0	94.0					7																	137776523		2203	4300	6503	SO:0001583	missense	0			-	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.271A>G	7.37:g.137776523A>G	ENSP00000242375:p.Thr91Ala		A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.T91A	ENST00000242375.3	37	c.271	CCDS5846.1	7	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956940	0.73902	.	.	ENSG00000122787	ENST00000432161;ENST00000411726;ENST00000242375;ENST00000438242	T;T;T;T	0.51325	1.93;1.93;1.93;0.71	5.4	5.4	0.78164	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	L	0.54965	1.715	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.996;0.982	D;D;P	0.76575	0.988;0.943;0.768	T	0.65734	-0.6096	10	0.72032	D	0.01	.	13.4313	0.61057	1.0:0.0:0.0:0.0	.	91;91;91	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	A	91;91;91;35	ENSP00000389197:T91A;ENSP00000402374:T91A;ENSP00000242375:T91A;ENSP00000397042:T35A	ENSP00000242375:T91A	T	+	1	0	AKR1D1	137427063	1.000000	0.71417	0.680000	0.29994	0.701000	0.40568	8.184000	0.89702	2.271000	0.75665	0.533000	0.62120	ACA	-	AKR1D1	-	pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom		0.448	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1D1	HGNC	protein_coding	OTTHUMT00000341637.1	0	0	0	77	77	120	0.00	0.00	A	NM_005989		137776523	+1	31	39	39	49	tier1	no_errors	ENST00000242375	ensembl	human	known	74_37	missense	44.29	44.32	SNP	0.996	G	31	39
HIPK1	204851	genome.wustl.edu	37	1	114506024	114506024	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr1:114506024C>A	ENST00000369558.1	+	10	2351	c.2119C>A	c.(2119-2121)Cta>Ata	p.L707I	HIPK1_ENST00000406344.1_Missense_Mutation_p.L313I|HIPK1_ENST00000369561.4_Missense_Mutation_p.L673I|HIPK1_ENST00000369555.2_Intron|HIPK1_ENST00000369554.2_Intron|HIPK1_ENST00000426820.2_Missense_Mutation_p.L707I|HIPK1_ENST00000369553.1_Missense_Mutation_p.L313I|HIPK1_ENST00000369559.4_Missense_Mutation_p.L707I|HIPK1_ENST00000340480.4_Missense_Mutation_p.L333I			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	707					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTACACCACTAATGGTAGC	0.547													ENSG00000163349																																					0													80.0	75.0	77.0					1																	114506024		2203	4300	6503	SO:0001583	missense	0			-	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2119C>A	1.37:g.114506024C>A	ENSP00000358571:p.Leu707Ile		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L707I	ENST00000369558.1	37	c.2119	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992570	0.74703	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T	0.54071	0.66;0.68;0.71;0.71;0.59;3.72;2.79;2.79	5.51	5.51	0.81932	.	0.000000	0.45361	D	0.000363	T	0.47078	0.1426	N	0.14661	0.345	0.80722	D	1	B;D;D	0.67145	0.138;0.993;0.996	B;D;D	0.72625	0.022;0.952;0.978	T	0.38542	-0.9656	10	0.20046	T	0.44	.	19.7866	0.96442	0.0:1.0:0.0:0.0	.	313;707;707	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	I	778;707;707;707;673;333;313;313	ENSP00000407442:L778I;ENSP00000358572:L707I;ENSP00000409673:L707I;ENSP00000358571:L707I;ENSP00000358574:L673I;ENSP00000340956:L333I;ENSP00000358566:L313I;ENSP00000384960:L313I	ENSP00000340956:L333I	L	+	1	2	HIPK1	114307547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.414000	0.80117	2.756000	0.94617	0.655000	0.94253	CTA	-	HIPK1	-	NULL		0.547	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	0	0	0	100	100	117	0.00	0.00	C	NM_198268		114506024	+1	42	36	58	68	tier1	no_errors	ENST00000369558	ensembl	human	known	74_37	missense	42.00	34.62	SNP	1.000	A	42	58
PREX2	80243	genome.wustl.edu	37	8	69030858	69030858	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr8:69030858C>A	ENST00000288368.4	+	27	3677	c.3400C>A	c.(3400-3402)Cac>Aac	p.H1134N		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1134					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCGTATTTCCACAGTGATGA	0.438													ENSG00000046889																																					0													149.0	132.0	138.0					8																	69030858		2203	4300	6503	SO:0001583	missense	0			-	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3400C>A	8.37:g.69030858C>A	ENSP00000288368:p.His1134Asn		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.H1134N	ENST00000288368.4	37	c.3400	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831717	0.71258	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.35421	1.31	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	L	0.44542	1.39	0.80722	D	1	P	0.38395	0.629	B	0.41036	0.346	T	0.09487	-1.0672	10	0.32370	T	0.25	.	18.7437	0.91784	0.0:1.0:0.0:0.0	.	1134	Q70Z35	PREX2_HUMAN	N	1134;1139	ENSP00000288368:H1134N	ENSP00000288368:H1134N	H	+	1	0	PREX2	69193412	1.000000	0.71417	0.933000	0.37362	0.983000	0.72400	7.439000	0.80444	2.435000	0.82474	0.591000	0.81541	CAC	-	PREX2	-	NULL		0.438	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	0	0	0	87	87	98	0.00	0.00	C	NM_025170		69030858	+1	8	18	68	82	tier1	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	10.53	18.00	SNP	1.000	A	8	68
SEMA4D	10507	genome.wustl.edu	37	9	92006299	92006299	+	Silent	SNP	T	T	C			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr9:92006299T>C	ENST00000450295.1	-	9	1430	c.654A>G	c.(652-654)cgA>cgG	p.R218R	SEMA4D_ENST00000343780.4_Silent_p.R218R|SEMA4D_ENST00000356444.2_Silent_p.R218R|SEMA4D_ENST00000339861.4_Silent_p.R218R|SEMA4D_ENST00000420987.1_Silent_p.R218R|SEMA4D_ENST00000455551.2_Silent_p.R218R|SEMA4D_ENST00000438547.2_Silent_p.R218R|SEMA4D_ENST00000422704.2_Silent_p.R218R			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	218	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTGGGCTTTTTCGGATCACGT	0.552													ENSG00000187764																																					0													138.0	117.0	124.0					9																	92006299		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.654A>G	9.37:g.92006299T>C			B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.R218	ENST00000450295.1	37	c.654	CCDS6685.1	9																																																																																			-	SEMA4D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.552	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1	0	0	0	35	35	115	0.00	0.00	T	NM_006378		92006299	-1	8	54	8	66	tier1	no_errors	ENST00000356444	ensembl	human	known	74_37	silent	50.00	45.00	SNP	0.012	C	8	8
EEF1A1	1915	genome.wustl.edu	37	6	74227622	74227622	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr6:74227622C>T	ENST00000316292.9	-	7	2291	c.1300G>A	c.(1300-1302)Gcg>Acg	p.A434T	EEF1A1_ENST00000309268.6_Missense_Mutation_p.A434T|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A434T|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	434					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACACCCACCGCAACTGTCTGT	0.413											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	ENSG00000156508																																					0													38.0	40.0	39.0					6																	74227622		2203	4300	6503	SO:0001583	missense	0			-	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1300G>A	6.37:g.74227622C>T	ENSP00000339063:p.Ala434Thr	1151	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.A434T	ENST00000316292.9	37	c.1300	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036670	0.54896	.	.	ENSG00000156508	ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.55760	0.5;0.5;0.5	4.81	4.81	0.61882	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.000000	0.85682	U	0.000000	T	0.71854	0.3389	H	0.99940	5	0.80722	D	1	B;B;B	0.15141	0.012;0.012;0.012	B;B;B	0.22880	0.042;0.042;0.042	T	0.79923	-0.1598	10	0.87932	D	0	.	18.3119	0.90203	0.0:1.0:0.0:0.0	.	434;434;434	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	T	434;434;434;413	ENSP00000339063:A434T;ENSP00000339053:A434T;ENSP00000330054:A434T	ENSP00000339053:A434T	A	-	1	0	EEF1A1	74284343	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.405000	0.80007	2.381000	0.81170	0.556000	0.70494	GCG	-	EEF1A1	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc		0.413	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	0	0	0	119	119	20	0.00	0.00	C	NM_001402		74227622	-1	64	2	85	14	tier1	no_errors	ENST00000309268	ensembl	human	known	74_37	missense	42.67	12.50	SNP	1.000	T	64	85
COL24A1	255631	genome.wustl.edu	37	1	86362070	86362070	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr1:86362070A>G	ENST00000370571.2	-	29	3167	c.2801T>C	c.(2800-2802)cTc>cCc	p.L934P	COL24A1_ENST00000436319.1_Missense_Mutation_p.L934P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	934	Collagen-like 7.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCCCCTAAGAGACCATCTGG	0.333													ENSG00000171502																																					0													116.0	109.0	111.0					1																	86362070		1829	4082	5911	SO:0001583	missense	0			-	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2801T>C	1.37:g.86362070A>G	ENSP00000359603:p.Leu934Pro		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.L934P	ENST00000370571.2	37	c.2801	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	A	9.110	1.006262	0.19199	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.89875	-2.58;-1.96	5.46	4.33	0.51752	.	2.339190	0.02353	N	0.076112	T	0.59293	0.2183	N	0.01771	-0.73	0.49687	D	0.999813	B;B	0.02656	0.0;0.0	B;B	0.10450	0.002;0.005	T	0.35101	-0.9802	10	0.22706	T	0.39	.	8.3653	0.32382	0.8385:0.0:0.1615:0.0	.	934;934	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	P	934	ENSP00000359603:L934P;ENSP00000392531:L934P	ENSP00000359603:L934P	L	-	2	0	COL24A1	86134658	0.999000	0.42202	0.967000	0.41034	0.991000	0.79684	2.817000	0.48034	0.904000	0.36572	0.533000	0.62120	CTC	-	COL24A1	-	NULL		0.333	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	0	0	0	40	40	165	0.00	0.00	A	NM_152890		86362070	-1	6	9	52	71	tier1	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	10.34	11.11	SNP	0.989	G	6	52
SLC26A9	115019	genome.wustl.edu	37	1	205897159	205897159	+	Silent	SNP	C	C	T	rs147218911		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr1:205897159C>T	ENST00000367135.3	-	9	1085	c.972G>A	c.(970-972)tcG>tcA	p.S324S	SLC26A9_ENST00000367134.2_Silent_p.S324S|SLC26A9_ENST00000340781.4_Silent_p.S324S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	324					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGACCACAGGCGACACCGGGG	0.627													ENSG00000174502																																					0								C	,	1,4405	2.1+/-5.4	0,1,2202	50.0	46.0	48.0		972,972	-5.5	0.0	1	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC26A9	NM_052934.3,NM_134325.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	324/792,324/888	205897159	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.972G>A	1.37:g.205897159C>T			A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.S324	ENST00000367135.3	37	c.972	CCDS30990.1	1																																																																																			rs147218911	SLC26A9	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.627	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	0	0	1	59	59	86	0.00	1.15	C	NM_052934		205897159	-1	24	30	27	39	tier1	no_errors	ENST00000340781	ensembl	human	known	74_37	silent	45.28	42.86	SNP	0.001	T	24	27
RPRD1B	58490	genome.wustl.edu	37	20	36718299	36718299	+	3'UTR	SNP	T	T	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr20:36718299T>A	ENST00000373433.4	+	0	1405				RPRD1B_ENST00000471511.1_3'UTR	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B						dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TGTCCCAGATTTCTGTTTGTA	0.557													ENSG00000101413																																					0													55.0	54.0	54.0					20																	36718299		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			-	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.*22T>A	20.37:g.36718299T>A			Q1WDE7|Q6PKF4	R	SNP	-	NULL	ENST00000373433.4	37	NULL	CCDS13301.1	20																																																																																			-	RPRD1B	-	-		0.557	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRD1B	HGNC	protein_coding	OTTHUMT00000079142.2	0	0	0	46	46	84	0.00	0.00	T	NM_021215		36718299	+1	37	41	28	45	tier1	no_errors	ENST00000471511	ensembl	human	known	74_37	rna	56.92	47.67	SNP	1.000	A	37	28
ADCY9	115	genome.wustl.edu	37	16	4033317	4033317	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr16:4033317G>A	ENST00000294016.3	-	7	2973	c.2435C>T	c.(2434-2436)gCc>gTc	p.A812V		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	812					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 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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGCACGGTGGCCGCCTCGTA	0.642											OREG0023573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000162104																																					0													39.0	30.0	33.0					16																	4033317		2186	4295	6481	SO:0001583	missense	0			-	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2435C>T	16.37:g.4033317G>A	ENSP00000294016:p.Ala812Val	615	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A812V	ENST00000294016.3	37	c.2435	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	G	8.318	0.823569	0.16678	.	.	ENSG00000162104	ENST00000294016	D	0.82711	-1.64	5.94	5.94	0.96194	.	0.731345	0.13522	N	0.381627	T	0.70631	0.3246	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.55970	-0.8056	10	0.30854	T	0.27	.	10.302	0.43659	0.0691:0.0:0.7961:0.1348	.	812	O60503	ADCY9_HUMAN	V	812	ENSP00000294016:A812V	ENSP00000294016:A812V	A	-	2	0	ADCY9	3973318	0.209000	0.23505	0.008000	0.14137	0.006000	0.05464	3.046000	0.49846	2.826000	0.97356	0.561000	0.74099	GCC	-	ADCY9	-	NULL		0.642	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	0	0	0	45	45	27	0.00	0.00	G			4033317	-1	26	17	19	26	tier1	no_errors	ENST00000294016	ensembl	human	known	74_37	missense	57.78	39.53	SNP	0.014	A	26	19
PBX3	5090	genome.wustl.edu	37	9	128678030	128678030	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr9:128678030A>G	ENST00000373489.5	+	3	356	c.340A>G	c.(340-342)Atg>Gtg	p.M114V	PBX3_ENST00000373483.2_Intron|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373487.4_Missense_Mutation_p.M114V|PBX3_ENST00000342287.5_Missense_Mutation_p.M114V|PBX3_ENST00000447726.2_Missense_Mutation_p.M39V	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	114					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						ACTGGACAATATGCTTTTGGC	0.557													ENSG00000167081																																					0													61.0	66.0	64.0					9																	128678030		2203	4300	6503	SO:0001583	missense	0			-		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.340A>G	9.37:g.128678030A>G	ENSP00000362588:p.Met114Val		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.M114V	ENST00000373489.5	37	c.340	CCDS6865.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.03|19.03	3.748510|3.748510	0.69533|0.69533	.|.	.|.	ENSG00000167081|ENSG00000167081	ENST00000373489;ENST00000342287;ENST00000373487;ENST00000447726;ENST00000538998|ENST00000428092	T;T;T;T;T|.	0.39592|.	1.07;1.07;1.07;1.07;1.07|.	5.87|5.87	5.87|5.87	0.94306|0.94306	PBX (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83459|0.83459	0.5259|0.5259	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.957;1.0|.	D;D;D|.	0.91635|.	0.999;0.981;0.999|.	D|D	0.86018|0.86018	0.1505|0.1505	10|5	0.72032|.	D|.	0.01|.	.|.	16.5764|16.5764	0.84681|0.84681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	25;114;114|.	B7Z5Q0;Q5JS98;P40426|.	.;.;PBX3_HUMAN|.	V|C	114;114;114;39;25|34	ENSP00000362588:M114V;ENSP00000341990:M114V;ENSP00000362586:M114V;ENSP00000387456:M39V;ENSP00000444005:M25V|.	ENSP00000341990:M114V|.	M|Y	+|+	1|2	0|0	PBX3|PBX3	127717851|127717851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.910000|8.910000	0.92685|0.92685	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATG|TAT	-	PBX3	-	pfam_PBX		0.557	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	0	0	0	71	71	94	0.00	0.00	A			128678030	+1	37	34	38	53	tier1	no_errors	ENST00000373489	ensembl	human	known	74_37	missense	49.33	39.08	SNP	1.000	G	37	38
ERBB2	2064	genome.wustl.edu	37	17	37864783	37864783	+	Silent	SNP	C	C	T			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr17:37864783C>T	ENST00000269571.5	+	3	594	c.435C>T	c.(433-435)ctC>ctT	p.L145L	ERBB2_ENST00000540147.1_Silent_p.L115L|ERBB2_ENST00000584450.1_Silent_p.L145L|ERBB2_ENST00000578199.1_Silent_p.L115L|ERBB2_ENST00000540042.1_Silent_p.L115L|ERBB2_ENST00000541774.1_Silent_p.L130L|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Silent_p.L115L|ERBB2_ENST00000406381.2_Silent_p.L115L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	145					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TTCGAAGCCTCACAGGTGGCC	0.577		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			ENSG00000141736																												Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													47.0	52.0	50.0					17																	37864783		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.435C>T	17.37:g.37864783C>T			B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L145	ENST00000269571.5	37	c.435	CCDS32642.1	17																																																																																			-	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	0	0	0	58	58	79	0.00	0.00	C			37864783	+1	6	9	33	67	tier1	no_errors	ENST00000269571	ensembl	human	known	74_37	silent	15.38	11.84	SNP	1.000	T	6	33
CBWD1	55871	genome.wustl.edu	37	9	121796	121796	+	Intron	SNP	C	C	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr9:121796C>A	ENST00000356521.4	-	14	1170				CBWD1_ENST00000377400.4_Intron|CBWD1_ENST00000475411.1_5'Flank|CBWD1_ENST00000382447.4_Intron|CBWD1_ENST00000314367.10_Intron	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AAAGTCCTAACAAGCTTTTAC	0.353													ENSG00000172785																																					0																																										SO:0001627	intron_variant	0			-	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.1081+164G>T	9.37:g.121796C>A			A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	R	SNP	-	NULL	ENST00000356521.4	37	NULL	CCDS6438.1	9																																																																																			-	CBWD1	-	-		0.353	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	HGNC	protein_coding	OTTHUMT00000051463.1	1	1	0	102	102	84	0.97	0.00	C	NM_018491		121796	-1	25	14	32	16	tier1	no_errors	ENST00000475990	ensembl	human	known	74_37	rna	43.86	46.67	SNP	0.000	A	25	32
MTRF1	9617	genome.wustl.edu	37	13	41834665	41834665	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr13:41834665C>T	ENST00000379480.4	-	2	479	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000430347.2_Missense_Mutation_p.E140K|MTRF1_ENST00000379477.1_Missense_Mutation_p.E127K	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	127					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		ATTGCTTGTTCAGTCTCCTGA	0.393													ENSG00000120662																																					0													162.0	157.0	159.0					13																	41834665		2203	4300	6503	SO:0001583	missense	0			-	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.379G>A	13.37:g.41834665C>T	ENSP00000368793:p.Glu127Lys		B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF	p.E140K	ENST00000379480.4	37	c.418	CCDS9378.1	13	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103747	0.37145	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347;ENST00000239852;ENST00000452359	T;T;T;T	0.24538	2.8;2.8;2.8;1.85	4.41	2.64	0.31445	.	0.620154	0.16219	N	0.224121	T	0.17874	0.0429	L	0.34521	1.04	0.39409	D	0.966728	B;B	0.17852	0.024;0.008	B;B	0.15484	0.013;0.003	T	0.05566	-1.0877	10	0.51188	T	0.08	-6.7378	6.6021	0.22707	0.0:0.6668:0.1636:0.1696	.	140;127	B4DG01;O75570	.;RF1M_HUMAN	K	127;127;140;127;127	ENSP00000368793:E127K;ENSP00000368790:E127K;ENSP00000400031:E140K;ENSP00000399279:E127K	ENSP00000239852:E127K	E	-	1	0	MTRF1	40732665	0.659000	0.27411	0.923000	0.36655	0.982000	0.71751	1.025000	0.30090	0.450000	0.26774	0.467000	0.42956	GAA	-	MTRF1	-	NULL		0.393	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1	HGNC	protein_coding	OTTHUMT00000044666.3	0	0	0	62	62	86	0.00	0.00	C	NM_004294		41834665	-1	5	7	45	59	tier1	no_errors	ENST00000430347	ensembl	human	known	74_37	missense	10.00	10.45	SNP	0.942	T	5	45
MIER2	54531	genome.wustl.edu	37	19	306713	306713	+	Splice_Site	SNP	T	T	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr19:306713T>A	ENST00000264819.4	-	14	1627		c.e14-2		CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTTACAGCTGCAGGGGAGA	0.662													ENSG00000105556																																					0													89.0	72.0	78.0					19																	306713		2170	4244	6414	SO:0001630	splice_region_variant	0			-	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1617-2A>T	19.37:g.306713T>A			Q9ULM7	Splice_Site	SNP	-	e14-2	ENST00000264819.4	37	c.1617-2	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648287	0.47258	.	.	ENSG00000105556	ENST00000264819	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4846	0.44713	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MIER2	257713	0.988000	0.35896	0.958000	0.39756	0.489000	0.33432	1.039000	0.30266	1.751000	0.51876	0.402000	0.26972	.	-	MIER2	-	-		0.662	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	0	0	0	61	61	47	0.00	0.00	T	XM_041843	Intron	306713	-1	43	13	41	26	tier1	no_errors	ENST00000264819	ensembl	human	known	74_37	splice_site	51.19	33.33	SNP	0.997	A	43	41
LINC01362	103283057	genome.wustl.edu	37	1	83451871	83451871	+	lincRNA	SNP	A	A	T			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr1:83451871A>T	ENST00000452901.1	+	0	756				RP11-170N11.1_ENST00000452834.1_lincRNA																							caaattactcacagcctgaga	0.333													ENSG00000236268																																					0																																												0			-																													1.37:g.83451871A>T				R	SNP	-	NULL	ENST00000452901.1	37	NULL		1																																																																																			-	RP11-170N11.1	-	-		0.333	RP4-601K24.1-001	KNOWN	non_canonical_polymorphism|basic	lincRNA	LOC101927498	Clone_based_vega_gene	lincRNA	OTTHUMT00000026937.1	0	0	0	137	137	99	0.00	0.00	A			83451871	-1	29	19	80	64	tier1	no_errors	ENST00000421931	ensembl	human	known	74_37	rna	26.61	22.89	SNP	1.000	T	29	80
ADAM5	255926	genome.wustl.edu	37	8	39239107	39239107	+	RNA	SNP	T	T	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr8:39239107T>A	ENST00000505455.1	+	0	1270							Q6NVV9	ADAM5_HUMAN	ADAM metallopeptidase domain 5, pseudogene								metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)										TTTATGCACATGTACGAGACC	0.388													ENSG00000196115																																					0																																												0			-	BC047448		8p11.23	2012-08-22	2010-03-12	2012-08-22	ENSG00000196115	ENSG00000196115		"""ADAM metallopeptidase domain containing"""	212	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 5"""	ADAM5P		8786143, 10417343	Standard	NR_001448		Approved	tMDCII	uc003xnb.3	Q6NVV9	OTTHUMG00000154982		8.37:g.39239107T>A			A8MW71|Q4G196	R	SNP	-	NULL	ENST00000505455.1	37	NULL		8																																																																																			-	ADAM5	-	-		0.388	ADAM5-006	KNOWN	basic	processed_transcript	ADAM5	HGNC	pseudogene	OTTHUMT00000337882.1	0	0	0	72	72	123	0.00	0.00	T	NR_001448		39239107	+1	26	45	44	40	tier1	no_errors	ENST00000359790	ensembl	human	known	74_37	rna	36.62	52.94	SNP	0.140	A	26	44
ANK2	287	genome.wustl.edu	37	4	114288730	114288730	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr4:114288730G>A	ENST00000357077.4	+	42	11094	c.11041G>A	c.(11041-11043)Gta>Ata	p.V3681I	ANK2_ENST00000264366.6_Missense_Mutation_p.V3648I|ANK2_ENST00000509550.1_Missense_Mutation_p.V772I|ANK2_ENST00000506722.1_Missense_Mutation_p.V1587I|ANK2_ENST00000394537.3_Missense_Mutation_p.V1596I|ANK2_ENST00000510275.2_Missense_Mutation_p.V248I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3681					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGGTTCTCGGTACTTCAAGA	0.363													ENSG00000145362																																					0													69.0	69.0	69.0					4																	114288730		2203	4300	6503	SO:0001583	missense	0			-	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11041G>A	4.37:g.114288730G>A	ENSP00000349588:p.Val3681Ile		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.V3681I	ENST00000357077.4	37	c.11041	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.26|12.26	1.885231|1.885231	0.33255|0.33255	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|T;T;T;T;T;D;D	.|0.96200	.|-0.27;-0.25;-0.29;-0.3;-1.02;-2.01;-3.94	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.49305	.|D	.|0.000151	D|D	0.94506|0.94506	0.8231|0.8231	L|L	0.59436|0.59436	1.845|1.845	0.18873|0.18873	N|N	0.999987|0.999987	.|B;B;P;B;P;B	.|0.39480	.|0.146;0.442;0.524;0.217;0.675;0.363	.|B;B;B;B;B;B	.|0.39840	.|0.057;0.219;0.095;0.098;0.311;0.281	D|D	0.88774|0.88774	0.3266|0.3266	5|10	.|0.36615	.|T	.|0.2	.|.	19.6306|19.6306	0.95700|0.95700	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|772;631;597;1596;3681;1587	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	D|I	597|1587;631;1596;3681;3648;1587;772;248;691	.|ENSP00000421067:V1587I;ENSP00000378044:V1596I;ENSP00000349588:V3681I;ENSP00000264366:V3648I;ENSP00000426944:V772I;ENSP00000421023:V248I;ENSP00000422498:V691I	.|ENSP00000264366:V3648I	G|V	+|+	2|1	0|0	ANK2|ANK2	114508179|114508179	0.930000|0.930000	0.31532|0.31532	0.227000|0.227000	0.23927|0.23927	0.623000|0.623000	0.37688|0.37688	3.690000|3.690000	0.54713|0.54713	2.647000|2.647000	0.89833|0.89833	0.484000|0.484000	0.47621|0.47621	GGT|GTA	-	ANK2	-	NULL		0.363	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	0	0	0	49	49	69	0.00	0.00	G	NM_001148		114288730	+1	15	26	24	33	tier1	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	38.46	44.07	SNP	0.168	A	15	24
GPR158	57512	genome.wustl.edu	37	10	25877983	25877983	+	Missense_Mutation	SNP	C	C	T	rs377328410		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr10:25877983C>T	ENST00000376351.3	+	8	2160	c.1801C>T	c.(1801-1803)Cgg>Tgg	p.R601W		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	601					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTATGCAGTGCGGACAGTCCC	0.398													ENSG00000151025																																					0								C	TRP/ARG	0,4406		0,0,2203	115.0	106.0	109.0		1801	4.9	1.0	10		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR158	NM_020752.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	601/1216	25877983	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1801C>T	10.37:g.25877983C>T	ENSP00000365529:p.Arg601Trp		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.R601W	ENST00000376351.3	37	c.1801	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137238	0.77775	0.0	1.16E-4	ENSG00000151025	ENST00000376351	D	0.91577	-2.87	4.94	4.94	0.65067	GPCR, family 3, C-terminal (2);	0.082130	0.48767	D	0.000171	D	0.96147	0.8744	M	0.88906	2.99	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.96878	0.9644	10	0.87932	D	0	.	18.5361	0.91011	0.0:1.0:0.0:0.0	.	601	Q5T848	GP158_HUMAN	W	601	ENSP00000365529:R601W	ENSP00000365529:R601W	R	+	1	2	GPR158	25917989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.740000	0.38228	2.447000	0.82792	0.655000	0.94253	CGG	-	GPR158	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.398	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	0	0	0	95	95	59	0.00	0.00	C	XM_166110		25877983	+1	42	24	54	24	tier1	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	43.75	50.00	SNP	1.000	T	42	54
ZFP30	22835	genome.wustl.edu	37	19	38126321	38126321	+	Missense_Mutation	SNP	C	C	T	rs541723751		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr19:38126321C>T	ENST00000351218.2	-	6	1678	c.1121G>A	c.(1120-1122)aGa>aAa	p.R374K	ZFP30_ENST00000392144.1_Missense_Mutation_p.R374K|ZFP30_ENST00000514101.2_Missense_Mutation_p.R374K|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	374					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)	p.R374I(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTATGTATTCTCTGATGGAG	0.408													ENSG00000120784	C|||	1	0.000199681	0.0	0.0	5008	,	,		23114	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)											69.0	72.0	71.0					19																	38126321		2203	4300	6503	SO:0001583	missense	0			-	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1121G>A	19.37:g.38126321C>T	ENSP00000343581:p.Arg374Lys		Q58EY8	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.R374K	ENST00000351218.2	37	c.1121	CCDS33005.1	19	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983845	0.53827	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.18338	2.22;2.22;2.22	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38058	N	0.001838	T	0.30665	0.0772	L	0.44542	1.39	0.26230	N	0.979036	D;D	0.53745	0.962;0.962	D;D	0.73380	0.98;0.98	T	0.02037	-1.1225	10	0.41790	T	0.15	.	11.7606	0.51900	0.0:0.82:0.18:0.0	.	374;374	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	K	374;374;374;289	ENSP00000343581:R374K;ENSP00000422930:R374K;ENSP00000375988:R374K	ENSP00000343581:R374K	R	-	2	0	ZFP30	42818161	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	0.472000	0.22116	2.175000	0.68902	0.591000	0.81541	AGA	-	ZFP30	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP30	HGNC	protein_coding	OTTHUMT00000109601.2	0	0	0	47	47	50	0.00	0.00	C	NM_014898		38126321	-1	20	17	22	19	tier1	no_errors	ENST00000351218	ensembl	human	known	74_37	missense	47.62	47.22	SNP	0.996	T	20	22
RICTOR	253260	genome.wustl.edu	37	5	38982076	38982076	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr5:38982076T>G	ENST00000357387.3	-	8	676	c.646A>C	c.(646-648)Atc>Ctc	p.I216L	RICTOR_ENST00000296782.5_Missense_Mutation_p.I216L	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGGCAATCGATCACATTTTTC	0.388													ENSG00000164327																																					0													151.0	159.0	156.0					5																	38982076		2203	4300	6503	SO:0001583	missense	0			-		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.646A>C	5.37:g.38982076T>G	ENSP00000349959:p.Ile216Leu			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I216L	ENST00000357387.3	37	c.646	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	T	9.573	1.121570	0.20877	.	.	ENSG00000164327	ENST00000357387;ENST00000296782;ENST00000514735	T;T;T	0.63744	-0.06;-0.06;-0.06	4.98	4.98	0.66077	Armadillo-like helical (1);Armadillo-type fold (1);	0.100558	0.64402	D	0.000003	T	0.61286	0.2335	N	0.05414	-0.055	0.80722	D	1	P;B;B;P	0.51147	0.942;0.034;0.066;0.942	D;B;B;D	0.64595	0.927;0.023;0.024;0.927	T	0.70579	-0.4833	10	0.87932	D	0	-6.2934	14.6687	0.68929	0.0:0.0:0.0:1.0	.	216;216;216;216	Q8N6M7;E7ETT0;Q6R327;Q6R327-3	.;.;RICTR_HUMAN;.	L	216;216;200	ENSP00000349959:I216L;ENSP00000296782:I216L;ENSP00000423162:I200L	ENSP00000296782:I216L	I	-	1	0	RICTOR	39017833	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.551000	0.82182	1.864000	0.54056	0.383000	0.25322	ATC	-	RICTOR	-	superfamily_ARM-type_fold		0.388	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	0	0	0	105	105	155	0.00	0.00	T	NM_152756		38982076	-1	41	46	79	90	tier1	no_errors	ENST00000296782	ensembl	human	known	74_37	missense	34.17	33.82	SNP	1.000	G	41	79
GPR132	29933	genome.wustl.edu	37	14	105517724	105517724	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr14:105517724G>C	ENST00000329797.3	-	4	1661	c.750C>G	c.(748-750)atC>atG	p.I250M	GPR132_ENST00000539291.2_Missense_Mutation_p.I250M|GPR132_ENST00000546679.1_5'Flank|GPR132_ENST00000392585.2_Missense_Mutation_p.I241M	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	250					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGACTAGGAAGATGACAACCA	0.577													ENSG00000183484																																					0													114.0	112.0	112.0					14																	105517724		2203	4300	6503	SO:0001583	missense	0			-	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.750C>G	14.37:g.105517724G>C	ENSP00000328818:p.Ile250Met		A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.I250M	ENST00000329797.3	37	c.750	CCDS9997.1	14	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179120	0.38511	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.72505	-0.66;-0.66;-0.66	4.88	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.170357	0.44285	D	0.000464	T	0.78748	0.4332	M	0.81239	2.535	0.37012	D	0.895778	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	T	0.77910	-0.2411	10	0.41790	T	0.15	.	1.9588	0.03381	0.344:0.0:0.3926:0.2634	.	241;250	B4E144;Q9UNW8	.;GP132_HUMAN	M	250;241;250	ENSP00000328818:I250M;ENSP00000376364:I241M;ENSP00000438094:I250M	ENSP00000328818:I250M	I	-	3	3	GPR132	104588769	1.000000	0.71417	0.997000	0.53966	0.164000	0.22412	0.854000	0.27791	1.040000	0.40099	0.563000	0.77884	ATC	-	GPR132	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.577	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR132	HGNC	protein_coding	OTTHUMT00000409278.1	0	0	0	35	35	93	0.00	0.00	G	NM_013345		105517724	-1	12	39	14	51	tier1	no_errors	ENST00000329797	ensembl	human	known	74_37	missense	46.15	43.33	SNP	1.000	C	12	14
ZNF2	7549	genome.wustl.edu	37	2	95847067	95847067	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr2:95847067G>A	ENST00000340539.5	+	5	956	c.494G>A	c.(493-495)aGg>aAg	p.R165K	ZNF2_ENST00000295210.6_Missense_Mutation_p.R127K|ZNF2_ENST00000398107.2_Missense_Mutation_p.R123K|ZNF2_ENST00000425369.1_Missense_Mutation_p.R85K|ZNF2_ENST00000453539.2_Missense_Mutation_p.R178K	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GCCCTGTCCAGGGAAATTCTC	0.557													ENSG00000163067																																					0													54.0	62.0	59.0					2																	95847067		2061	4234	6295	SO:0001583	missense	0			-	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.494G>A	2.37:g.95847067G>A	ENSP00000345392:p.Arg165Lys		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	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.R165K	ENST00000340539.5	37	c.494	CCDS42712.1	2	.	.	.	.	.	.	.	.	.	.	G	2.901	-0.227413	0.06022	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.05580	3.42;3.57;3.46;3.56;3.55	5.53	0.347	0.16022	.	0.435365	0.19871	N	0.104195	T	0.03434	0.0099	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39482	-0.9612	10	0.44086	T	0.13	-11.3356	7.5837	0.27980	0.6512:0.0:0.3488:0.0	.	127;123;164	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	K	123;165;85;127;178	ENSP00000381178:R123K;ENSP00000345392:R165K;ENSP00000406017:R85K;ENSP00000295210:R127K;ENSP00000411051:R178K	ENSP00000295210:R127K	R	+	2	0	ZNF2	95210794	0.038000	0.19896	0.009000	0.14445	0.005000	0.04900	0.183000	0.16919	-0.035000	0.13691	-0.290000	0.09829	AGG	-	ZNF2	-	NULL		0.557	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF2	HGNC	protein_coding	OTTHUMT00000338595.2	0	0	0	122	122	68	0.00	0.00	G	NM_021088		95847067	+1	37	11	76	31	tier1	no_errors	ENST00000340539	ensembl	human	known	74_37	missense	32.46	26.19	SNP	0.427	A	37	76
ZNF862	643641	genome.wustl.edu	37	7	149545354	149545354	+	Silent	SNP	C	C	T			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr7:149545354C>T	ENST00000223210.4	+	4	1017	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GGCTGAGCTCCTGCCAAGTTC	0.527													ENSG00000106479																																					0													16.0	18.0	17.0					7																	149545354		1850	4098	5948	SO:0001819	synonymous_variant	0			-	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.772C>T	7.37:g.149545354C>T			A0AUL8	Silent	SNP	pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box	p.L258	ENST00000223210.4	37	c.772	CCDS47741.1	7																																																																																			-	ZNF862	-	NULL		0.527	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF862	HGNC	protein_coding	OTTHUMT00000350165.1	0	0	0	78	78	57	0.00	0.00	C	NM_001099220		149545354	+1	10	4	45	29	tier1	no_errors	ENST00000223210	ensembl	human	known	74_37	silent	18.18	12.12	SNP	0.997	T	10	45
OTOP2	92736	genome.wustl.edu	37	17	72927065	72927065	+	Silent	SNP	C	C	T			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr17:72927065C>T	ENST00000580223.1	+	5	1365	c.1335C>T	c.(1333-1335)gaC>gaT	p.D445D	OTOP2_ENST00000331427.4_Silent_p.D445D			Q7RTS6	OTOP2_HUMAN	otopetrin 2	445						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTGCCAAGACCTCACCTTCA	0.637													ENSG00000183034																																					0													105.0	85.0	92.0					17																	72927065		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1335C>T	17.37:g.72927065C>T				Silent	SNP	pfam_Otopetrin	p.D445	ENST00000580223.1	37	c.1335	CCDS11708.1	17																																																																																			-	OTOP2	-	NULL		0.637	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP2	HGNC	protein_coding	OTTHUMT00000445306.1	0	0	0	82	82	62	0.00	0.00	C	NM_178160		72927065	+1	12	10	39	61	tier1	no_errors	ENST00000331427	ensembl	human	known	74_37	silent	23.53	14.08	SNP	0.952	T	12	39
MYF5	4617	genome.wustl.edu	37	12	81111289	81111289	+	Silent	SNP	G	G	A	rs141800220		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr12:81111289G>A	ENST00000228644.3	+	1	599	c.447G>A	c.(445-447)ccG>ccA	p.P149P		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	149					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATAGCCTGCCGGGACAGAGCT	0.557													ENSG00000111049																																					0													121.0	130.0	127.0					12																	81111289		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.447G>A	12.37:g.81111289G>A			Q6ISR9	Silent	SNP	pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.P149	ENST00000228644.3	37	c.447	CCDS9020.1	12																																																																																			-	MYF5	-	pfam_Myf5,superfamily_bHLH_dom		0.557	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF5	HGNC	protein_coding	OTTHUMT00000407757.1	0	0	0	58	58	89	0.00	0.00	G	NM_005593		81111289	+1	28	28	30	29	tier1	no_errors	ENST00000228644	ensembl	human	known	74_37	silent	48.28	49.12	SNP	0.888	A	28	30
EHBP1	23301	genome.wustl.edu	37	2	63175630	63175630	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr2:63175630A>G	ENST00000263991.5	+	14	2236	c.1754A>G	c.(1753-1755)tAt>tGt	p.Y585C	EHBP1_ENST00000354487.3_Missense_Mutation_p.Y550C|EHBP1_ENST00000405289.1_Missense_Mutation_p.Y550C|EHBP1_ENST00000431489.1_Missense_Mutation_p.Y550C|EHBP1_ENST00000405015.3_Missense_Mutation_p.Y550C	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	585						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAAAATTCTATGCAGAGCTT	0.383													ENSG00000115504																																					0													65.0	66.0	65.0					2																	63175630		2203	4300	6503	SO:0001583	missense	0			-	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1754A>G	2.37:g.63175630A>G	ENSP00000263991:p.Tyr585Cys		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.Y585C	ENST00000263991.5	37	c.1754	CCDS1872.1	2	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156972	0.57259	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.75821	-0.97;-0.97;-0.96;-0.95;-0.95	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.84183	0.5416	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.83682	0.0172	10	0.40728	T	0.16	.	16.0152	0.80434	1.0:0.0:0.0:0.0	.	550;550;585	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	C	550;550;585;550;550	ENSP00000384143:Y550C;ENSP00000403783:Y550C;ENSP00000263991:Y585C;ENSP00000346482:Y550C;ENSP00000385524:Y550C	ENSP00000263991:Y585C	Y	+	2	0	EHBP1	63029134	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.829000	0.92055	2.180000	0.69256	0.533000	0.62120	TAT	-	EHBP1	-	NULL		0.383	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1	0	0	0	32	32	95	0.00	0.00	A	NM_015252		63175630	+1	11	38	15	41	tier1	no_errors	ENST00000263991	ensembl	human	known	74_37	missense	42.31	48.10	SNP	1.000	G	11	15
PXDC1	221749	genome.wustl.edu	37	6	3739162	3739162	+	Intron	SNP	G	G	A	rs545007742		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr6:3739162G>A	ENST00000380283.4	-	2	751				PXDC1_ENST00000477592.2_Intron	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1								phosphatidylinositol binding (GO:0035091)										GGACACTGGCGTCTCCCCCAC	0.527													ENSG00000168994	G|||	1	0.000199681	0.0	0.0	5008	,	,		16127	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001627	intron_variant	0			-	AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.257-780C>T	6.37:g.3739162G>A			A8K0N3|Q6PGP0|Q86XB7	R	SNP	-	NULL	ENST00000380283.4	37	NULL	CCDS4486.1	6																																																																																			-	PXDC1	-	-		0.527	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDC1	HGNC	protein_coding	OTTHUMT00000039688.1	0	0	0	52	52	79	0.00	0.00	G	NM_183373		3739162	-1	16	35	26	44	tier1	no_errors	ENST00000485986	ensembl	human	known	74_37	rna	38.10	44.30	SNP	0.009	A	16	26
ANKRD20A5P	440482	genome.wustl.edu	37	18	14184171	14184171	+	RNA	SNP	A	A	T			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr18:14184171A>T	ENST00000581935.1	+	0	860							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						TCAATTTTTTATATTTGGAAG	0.279													ENSG00000186481																																					0																																												0			-	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14184171A>T			Q4G1B6	R	SNP	-	NULL	ENST00000581935.1	37	NULL		18																																																																																			-	ANKRD20A5P	-	-		0.279	ANKRD20A5P-002	KNOWN	basic	processed_transcript	ANKRD20A5P	HGNC	pseudogene	OTTHUMT00000442833.1	0	0	0	119	119	30	0.00	0.00	A			14184171	+1	34	9	53	10	tier1	no_errors	ENST00000581935	ensembl	human	known	74_37	rna	38.64	47.37	SNP	0.002	T	34	53
GABRP	2568	genome.wustl.edu	37	5	170236578	170236578	+	Missense_Mutation	SNP	C	C	T	rs558177227		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr5:170236578C>T	ENST00000518525.1	+	10	1303	c.839C>T	c.(838-840)aCg>aTg	p.T280M	GABRP_ENST00000265294.4_Missense_Mutation_p.T280M|GABRP_ENST00000519385.1_Intron|GABRP_ENST00000519598.1_Missense_Mutation_p.T280M			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	280					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCAGGAGTGACGACCGTGTTA	0.532											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000094755	C|||	1	0.000199681	0.0	0.0	5008	,	,		19289	0.0		0.001	False		,,,				2504	0.0																0													226.0	200.0	209.0					5																	170236578		2203	4300	6503	SO:0001583	missense	0			-	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.839C>T	5.37:g.170236578C>T	ENSP00000430100:p.Thr280Met	1883	A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T280M	ENST00000518525.1	37	c.839	CCDS4375.1	5	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908843	0.92107	.	.	ENSG00000094755	ENST00000518525;ENST00000265294;ENST00000519598	D;D;D	0.89415	-2.51;-2.51;-2.51	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94803	0.7972	10	0.87932	D	0	.	18.75	0.91810	0.0:1.0:0.0:0.0	.	280	O00591	GBRP_HUMAN	M	280	ENSP00000430100:T280M;ENSP00000265294:T280M;ENSP00000430772:T280M	ENSP00000265294:T280M	T	+	2	0	GABRP	170169156	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.818000	0.86416	2.529000	0.85273	0.655000	0.94253	ACG	-	GABRP	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.532	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRP	HGNC	protein_coding	OTTHUMT00000252834.3	0	0	0	126	126	136	0.00	0.00	C	NM_014211		170236578	+1	53	43	58	75	tier1	no_errors	ENST00000265294	ensembl	human	known	74_37	missense	47.75	36.44	SNP	1.000	T	53	58
FCF1	51077	genome.wustl.edu	37	14	75190037	75190037	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr14:75190037G>T	ENST00000341162.4	+	5	409	c.355G>T	c.(355-357)Gtg>Ttg	p.V119L	FCF1_ENST00000553615.1_Missense_Mutation_p.V104L|FCF1_ENST00000534938.2_Missense_Mutation_p.V107L	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	119	PINc.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		GAAGTATCGAGTGGCTCTAAG	0.383													ENSG00000119616																																					0													112.0	107.0	109.0					14																	75190037		2203	4300	6503	SO:0001583	missense	0			-	AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 111"", ""FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"""	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.355G>T	14.37:g.75190037G>T	ENSP00000344393:p.Val119Leu		Q86TW8|Q8TBL8	Missense_Mutation	SNP	pfam_Fcf1/Utp23,smart_PIN_dom	p.V119L	ENST00000341162.4	37	c.355	CCDS9832.1	14	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391061	0.42410	.	.	ENSG00000119616	ENST00000554590;ENST00000341162;ENST00000534938;ENST00000553615	.	.	.	5.39	5.39	0.77823	Nucleotide binding protein, PINc (1);	0.054331	0.64402	D	0.000001	T	0.41719	0.1171	N	0.11870	0.19	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.20384	0.029;0.005	T	0.27571	-1.0070	9	0.12766	T	0.61	.	19.3429	0.94350	0.0:0.0:1.0:0.0	.	119;104	Q9Y324;G3V5S9	FCF1_HUMAN;.	L	30;119;107;104	.	ENSP00000344393:V119L	V	+	1	0	FCF1	74259790	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.292000	0.96076	2.795000	0.96236	0.655000	0.94253	GTG	-	FCF1	-	pfam_Fcf1/Utp23,smart_PIN_dom		0.383	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCF1	HGNC	protein_coding	OTTHUMT00000413622.1	0	0	0	70	70	136	0.00	0.00	G	NM_015962		75190037	+1	13	22	44	103	tier1	no_errors	ENST00000341162	ensembl	human	known	74_37	missense	22.81	17.60	SNP	1.000	T	13	44
ZHX2	22882	genome.wustl.edu	37	8	123964551	123964551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr8:123964551delC	ENST00000314393.4	+	3	1636	c.801delC	c.(799-801)tacfs	p.Y267fs		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	267	Required for homodimerization.|Required for interaction with NFYA.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTACCAAATACAACTCTGCCC	0.493													ENSG00000178764																									Esophageal Squamous(94;1056 1388 11767 13799 49639)												0													157.0	163.0	161.0					8																	123964551		2203	4300	6503	SO:0001589	frameshift_variant	0				AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.801delC	8.37:g.123964551delC	ENSP00000314709:p.Tyr267fs			Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.Y267fs	ENST00000314393.4	37	c.801	CCDS6336.1	8																																																																																				ZHX2	-	superfamily_Homeodomain-like,smart_Homeobox_dom		0.493	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	0	0	0	57	57	115	0.00	0.00	C	NM_014943		123964551	+1	26	44	39	61	tier1	no_errors	ENST00000314393	ensembl	human	known	74_37	frame_shift_del	40.00	41.90	DEL	1.000	-	26	39
LINC00032	158035	genome.wustl.edu	37	9	27247404	27247404	+	lincRNA	SNP	T	T	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr9:27247404T>A	ENST00000425633.1	-	0	2817					NR_026679.1		P0C843	CI014_HUMAN	long intergenic non-protein coding RNA 32																		CCTGAACGATTCTCTGCAGGC	0.458													ENSG00000231459																																					0																																												0			-	AF418573		9p21	2012-10-12	2011-08-10	2011-08-10	ENSG00000231459	ENSG00000231459		"""Long non-coding RNAs"""	16506	non-coding RNA	RNA, long non-coding			"""chromosome 9 open reading frame 14"", ""non-protein coding RNA 32"""	C9orf14, NCRNA00032			Standard	NR_026679		Approved		uc010mjd.2	P0C843	OTTHUMG00000019711		9.37:g.27247404T>A				R	SNP	-	NULL	ENST00000425633.1	37	NULL		9																																																																																			-	LINC00032	-	-		0.458	LINC00032-001	KNOWN	basic	lincRNA	LINC00032	HGNC	lincRNA	OTTHUMT00000051963.1	0	0	0	39	39	59	0.00	0.00	T	NR_026679		27247404	-1	22	44	3	8	tier1	no_errors	ENST00000425633	ensembl	human	known	74_37	rna	88.00	84.62	SNP	0.998	A	22	3
MT-CO1	4512	genome.wustl.edu	37	M	3243	3243	+	5'Flank	SNP	A	A	G			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chrM:3243A>G	ENST00000361624.2	+	0	0				MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						taagatggcagagcccggtaa	0.438													ENSG00000209082																																					0																																										SO:0001631	upstream_gene_variant	0			-			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3243A>G	Exception_encountered		Q34770	R	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			rs199474657	MT-TL1	-	-		0.438	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-TL1	HGNC	protein_coding		0	0	0	40	40	47	0.00	0.00	A	YP_003024028		3243	+1	21	26	0	0	tier1	no_errors	ENST00000386347	ensembl	human	known	74_37	rna	100.00	100.00	SNP	NULL	G	21	0
PITPNM1	9600	genome.wustl.edu	37	11	67259587	67259587	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr11:67259587G>A	ENST00000534749.1	-	23	3840	c.3652C>T	c.(3652-3654)Cgt>Tgt	p.R1218C	PITPNM1_ENST00000436757.2_Missense_Mutation_p.R1217C|PITPNM1_ENST00000356404.3_Missense_Mutation_p.R1218C|PITPNM1_ENST00000526450.1_5'Flank			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1218					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGCCCTCACGCTCCGCCTGG	0.677													ENSG00000110697																									GBM(28;144 709 4607 5525)												0													37.0	40.0	39.0					11																	67259587		2200	4292	6492	SO:0001583	missense	0			-	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.3652C>T	11.37:g.67259587G>A	ENSP00000437286:p.Arg1218Cys		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.R1218C	ENST00000534749.1	37	c.3652	CCDS31620.1	11	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644112	0.47258	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.48201	0.82;0.82;0.82	4.73	4.73	0.59995	.	0.710727	0.12166	N	0.493552	T	0.49490	0.1560	L	0.54323	1.7	0.58432	D	0.999994	P;P	0.52061	0.95;0.916	B;B	0.43052	0.406;0.23	T	0.55774	-0.8088	10	0.54805	T	0.06	-10.1171	16.6458	0.85176	0.0:0.0:1.0:0.0	.	1217;1218	O00562-2;O00562	.;PITM1_HUMAN	C	1218;1217;1218	ENSP00000437286:R1218C;ENSP00000398787:R1217C;ENSP00000348772:R1218C	ENSP00000348772:R1218C	R	-	1	0	PITPNM1	67016163	0.947000	0.32204	0.089000	0.20774	0.053000	0.15095	2.760000	0.47581	2.353000	0.79882	0.462000	0.41574	CGT	-	PITPNM1	-	NULL		0.677	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	HGNC	protein_coding	OTTHUMT00000395520.1	0	0	0	134	134	18	0.00	0.00	G	NM_004910		67259587	-1	53	6	55	9	tier1	no_errors	ENST00000356404	ensembl	human	known	74_37	missense	49.07	40.00	SNP	0.933	A	53	55
KIF1B	23095	genome.wustl.edu	37	1	10403307	10403307	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr1:10403307G>A	ENST00000377086.1	+	34	3852	c.3650G>A	c.(3649-3651)cGc>cAc	p.R1217H	KIF1B_ENST00000263934.6_Missense_Mutation_p.R1171H|KIF1B_ENST00000377081.1_Missense_Mutation_p.R1217H			O60333	KIF1B_HUMAN	kinesin family member 1B	1217					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAGCCGTGCCGCCGATTCTTC	0.448													ENSG00000054523																																					0													94.0	93.0	94.0					1																	10403307		2203	4300	6503	SO:0001583	missense	0			-	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3650G>A	1.37:g.10403307G>A	ENSP00000366290:p.Arg1217His		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1171H	ENST00000377086.1	37	c.3512		1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124080	0.56613	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.79141	-1.24;-1.24;-1.24	4.78	3.86	0.44501	.	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	M	0.68952	2.095	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;P;D	0.87578	0.985;0.931;0.998;0.997;0.854;0.989	D	0.87886	0.2681	10	0.72032	D	0.01	.	15.299	0.73931	0.0:0.1407:0.8593:0.0	.	1203;1177;1217;1191;1217;1171	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	H	1217;1171;1217;1217	ENSP00000263934:R1171H;ENSP00000366290:R1217H;ENSP00000366284:R1217H	ENSP00000263934:R1171H	R	+	2	0	KIF1B	10325894	1.000000	0.71417	0.344000	0.25628	0.157000	0.22087	7.444000	0.80532	1.140000	0.42260	0.655000	0.94253	CGC	-	KIF1B	-	NULL		0.448	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	0	0	0	71	71	96	0.00	0.00	G			10403307	+1	14	7	65	65	tier1	no_errors	ENST00000263934	ensembl	human	known	74_37	missense	17.72	9.46	SNP	0.999	A	14	65
MT-ND2	4536	genome.wustl.edu	37	M	2747	2747	+	5'Flank	SNP	T	T	C			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chrM:2747T>C	ENST00000361453.3	+	0	0				MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TQ_ENST00000387372.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						gctttaatttaTTAATGCAAA	0.473													ENSG00000210082																																					0																																										SO:0001631	upstream_gene_variant	0			-			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2747T>C	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	R	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			-	MT-RNR2	-	-		0.473	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	HGNC	protein_coding		0	0	0	3456	3456	13	0.00	0.00	T	YP_003024027		2747	+1	173	0	1123	3	tier1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	13.34	0.00	SNP	NULL	C	173	1123
MT-CO1	4512	genome.wustl.edu	37	M	3052	3052	+	5'Flank	SNP	A	A	G			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chrM:3052A>G	ENST00000361624.2	+	0	0				MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GTTCAACGATTAAAGTCCTAC	0.438													ENSG00000210082																																					0																																										SO:0001631	upstream_gene_variant	0			-			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3052A>G	Exception_encountered		Q34770	R	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			-	MT-RNR2	-	-		0.438	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	HGNC	protein_coding		0	0	0	123	123	31	0.00	0.00	A	YP_003024028		3052	+1	7	0	56	6	tier1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	11.11	0.00	SNP	NULL	G	7	56
PSG1	5669	genome.wustl.edu	37	19	43373052	43373052	+	Missense_Mutation	SNP	C	C	A	rs377302599		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr19:43373052C>A	ENST00000436291.2	-	4	960	c.844G>T	c.(844-846)Gtc>Ttc	p.V282F	PSG1_ENST00000403380.3_Missense_Mutation_p.V189F|PSG1_ENST00000595124.1_Missense_Mutation_p.V189F|PSG1_ENST00000244296.2_Missense_Mutation_p.V282F|PSG1_ENST00000595356.1_Missense_Mutation_p.V282F|PSG1_ENST00000312439.6_Missense_Mutation_p.V282F	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	282	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CTGGGACTGACCGGGAGGCTC	0.473													ENSG00000231924																																					0													32.0	39.0	37.0					19																	43373052		1502	2692	4194	SO:0001583	missense	0			-		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.844G>T	19.37:g.43373052C>A	ENSP00000413041:p.Val282Phe		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V282F	ENST00000436291.2	37	c.844	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	0.121	-1.125049	0.01770	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	1.63	0.488	0.16848	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17492	0.0420	M	0.64170	1.965	0.09310	N	1	B;B;B;B;B;B;B	0.30605	0.01;0.049;0.287;0.028;0.046;0.087;0.044	B;B;B;B;B;B;B	0.41666	0.06;0.111;0.363;0.087;0.127;0.168;0.093	T	0.36986	-0.9725	9	0.38643	T	0.18	.	4.0031	0.09588	0.0:0.7512:0.0:0.2488	.	282;189;282;189;282;154;282	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;B4DTG5;P11464-2	.;.;PSG1_HUMAN;.;.;.;.	F	282;189;282;282	ENSP00000413041:V282F;ENSP00000385386:V189F;ENSP00000308970:V282F;ENSP00000244296:V282F	ENSP00000244296:V282F	V	-	1	0	PSG1	48064892	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.800000	0.04555	0.008000	0.14787	0.195000	0.17529	GTC	-	PSG1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.473	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	HGNC	protein_coding	OTTHUMT00000321426.1	0	0	0	209	209	15	0.00	0.00	C			43373052	-1	71	1	79	2	tier1	no_errors	ENST00000312439	ensembl	human	known	74_37	missense	47.33	33.33	SNP	0.000	A	71	79
REPIN1	29803	genome.wustl.edu	37	7	150069822	150069822	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr7:150069822C>G	ENST00000425389.2	+	1	1570	c.1492C>G	c.(1492-1494)Cag>Gag	p.Q498E	REPIN1_ENST00000397281.2_Missense_Mutation_p.Q498E|REPIN1_ENST00000444957.1_Missense_Mutation_p.Q498E|REPIN1_ENST00000540729.1_Missense_Mutation_p.Q498E|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.Q555E	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	498					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCCTTCAGCCAGAAGTCCAA	0.672													ENSG00000214022																																					0													41.0	49.0	47.0					7																	150069822		2202	4299	6501	SO:0001583	missense	0			-	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1492C>G	7.37:g.150069822C>G	ENSP00000388287:p.Gln498Glu		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q555E	ENST00000425389.2	37	c.1663	CCDS43677.1	7	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863189	0.51482	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49762	0.1576	L	0.45744	1.44	0.80722	D	1	D;D	0.63880	0.993;0.992	P;D	0.69654	0.785;0.965	T	0.40627	-0.9553	9	0.33940	T	0.23	-23.9681	13.8973	0.63781	0.0:1.0:0.0:0.0	.	555;498	C9J3L7;Q9BWE0	.;REPI1_HUMAN	E	498;498;498;555;498	ENSP00000445016:Q498E;ENSP00000380451:Q498E;ENSP00000407714:Q498E;ENSP00000417291:Q555E;ENSP00000388287:Q498E	ENSP00000380451:Q498E	Q	+	1	0	REPIN1	149700755	0.000000	0.05858	1.000000	0.80357	0.972000	0.66771	-0.035000	0.12205	2.142000	0.66516	0.462000	0.41574	CAG	-	REPIN1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.672	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	REPIN1	HGNC	protein_coding	OTTHUMT00000376940.1	0	0	0	47	47	7	0.00	0.00	C	NM_014374		150069822	+1	4	0	45	4	tier1	no_errors	ENST00000489432	ensembl	human	known	74_37	missense	8.16	0.00	SNP	1.000	G	4	45
CCDC144A	9720	genome.wustl.edu	37	17	16706960	16706963	+	3'UTR	DEL	TAAT	TAAT	-	rs201090753|rs684543		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	TAAT	TAAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr17:16706960_16706963delTAAT	ENST00000443444.2	+	0	8105_8108				RP11-219A15.2_ENST00000582895.1_lincRNA|USP32P1_ENST00000393005.2_RNA|RP11-219A15.1_ENST00000448331.3_3'UTR|RP11-219A15.4_ENST00000602730.1_RNA			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		TTTTTTCCTCTAATTATTCAAGAC	0.23													ENSG00000188933																																					0																																										SO:0001624	3_prime_UTR_variant	0				BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000443444.2:c.*3684TAAT>-	17.37:g.16706960_16706963delTAAT			O60311|Q6ZU57	R	DEL	-	NULL	ENST00000443444.2	37	NULL	CCDS45621.1	17																																																																																				USP32P1	-	-		0.230	CCDC144A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP32P1	HGNC	protein_coding		0	0	0	29	29	15	0.00	0.00	TAAT			16706963	+1	3	0	33	4	tier1	no_errors	ENST00000341745	ensembl	human	known	74_37	rna	8.33	0.00	DEL	0.734:0.743:0.823:0.867	-	3	33
CGB	1082	genome.wustl.edu	37	19	49526360	49526360	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr19:49526360C>T	ENST00000357383.4	-	3	642	c.281G>A	c.(280-282)cGc>cAc	p.R94H	CTB-60B18.6_ENST00000591656.1_Missense_Mutation_p.R80H	NM_000737.3	NP_000728.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide	94					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GTTCACGCCGCGCGGGCAGCC	0.697													ENSG00000104827																																					0													1.0	1.0	1.0					19																	49526360		404	1078	1482	SO:0001583	missense	0			-	J00117	CCDS12749.1	19q13.3	2013-02-25				ENSG00000104827		"""Endogenous ligands"""	1886	protein-coding gene	gene with protein product		118860				6774259, 6194155	Standard	NM_000737		Approved	CGB3	uc002plv.2	P01233		ENST00000357383.4:c.281G>A	19.37:g.49526360C>T	ENSP00000349954:p.Arg94His		A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.R94H	ENST00000357383.4	37	c.281	CCDS12749.1	19	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981286	0.34942	.	.	ENSG00000104827	ENST00000448402;ENST00000357383	D	0.91011	-2.77	1.8	0.676	0.17958	.	0.120878	0.56097	D	0.000026	D	0.89283	0.6671	.	.	.	0.22017	N	0.99942	.	.	.	.	.	.	T	0.82739	-0.0308	7	0.87932	D	0	-6.8125	8.1145	0.30935	0.0:0.2573:0.7427:0.0	.	.	.	.	H	97;94	ENSP00000349954:R94H	ENSP00000349954:R94H	R	-	2	0	CGB	54218172	0.980000	0.34600	0.963000	0.40424	0.011000	0.07611	2.839000	0.48207	0.321000	0.23259	-1.188000	0.01700	CGC	-	CGB	-	pfam_Cys_knot,smart_Gonadotropin_bsu		0.697	CGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGB	HGNC	protein_coding	OTTHUMT00000452164.2	0	0	0	41	41	0	0.00	0.00	C	NM_000737		49526360	-1	22	0	7	0	tier1	no_errors	ENST00000357383	ensembl	human	known	74_37	missense	75.86	0.00	SNP	0.993	T	22	7
TEKT4P2	100132288	genome.wustl.edu	37	21	9937745	9937745	+	RNA	SNP	A	A	C	rs368240084		TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr21:9937745A>C	ENST00000416067.1	-	0	129				CR392039.2_ENST00000458847.1_RNA|CR392039.1_ENST00000459307.1_RNA	NR_037872.1|NR_038327.1				tektin 4 pseudogene 2																		gaatgtttgtacctcacatag	0.448													ENSG00000239179																																					0																																												0			-			21p11.2	2012-10-03	2011-06-14	2011-06-14	ENSG00000188681	ENSG00000188681			40046	pseudogene	pseudogene			"""MAFF interacting protein-like"""	MAFIPL			Standard	NR_038327		Approved		uc021wgx.1		OTTHUMG00000172149		21.37:g.9937745A>C				R	SNP	-	NULL	ENST00000416067.1	37	NULL		21																																																																																			-	CR392039.2	-	-		0.448	TEKT4P2-002	KNOWN	basic	processed_transcript	ENSG00000239179	Clone_based_ensembl_gene	pseudogene	OTTHUMT00000417115.1	0	0	0	18	18	0	0.00	0.00	A	NM_001033515		9937745	-1	4	0	14	0	tier1	no_errors	ENST00000458847	ensembl	human	novel	74_37	rna	22.22	0.00	SNP	0.000	C	4	14
ZNF444	55311	genome.wustl.edu	37	19	56671273	56671281	+	In_Frame_Del	DEL	CCCCGGCAG	CCCCGGCAG	-	rs371421706|rs60359254	byFrequency	TCGA-DX-A7EQ-01A-11D-A387-09	TCGA-DX-A7EQ-11B-01D-A38A-09	CCCCGGCAG	CCCCGGCAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	41948940-1e2e-4f0d-bc61-bd6d41e027a0	5f13aa05-d3b4-4a3c-be59-99ea03f2a5f7	g.chr19:56671273_56671281delCCCCGGCAG	ENST00000337080.3	+	5	1054_1062	c.687_695delCCCCGGCAG	c.(685-696)caccccggcagc>cac	p.PGS233del	ZNF444_ENST00000592171.1_3'UTR|ZNF444_ENST00000592949.1_In_Frame_Del_p.PGS232del	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	233					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GCGACACGCACCCCGGCAGCCCCGGCAGC	0.746													ENSG00000167685		97	0.019369	0.028	0.013	5008	,	,		9074	0.0129		0.0328	False		,,,				2504	0.0051																0										57,1581		23,11,785						3.3	1.0		dbSNP_129	2	164,3494		53,58,1718	no	coding	ZNF444	NM_018337.2		76,69,2503	A1A1,A1R,RR		4.4833,3.4799,4.173				221,5075				SO:0001651	inframe_deletion	0				AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"""-"", ""Zinc fingers, C2H2-type"""	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.687_695delCCCCGGCAG	19.37:g.56671282_56671290delCCCCGGCAG	ENSP00000338860:p.Pro233_Ser235del		Q8TEQ9|Q8WU35|Q9NUU1	In_Frame_Del	DEL	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.PGS233in_frame_del	ENST00000337080.3	37	c.687_695	CCDS12939.1	19																																																																																				ZNF444	-	pfscan_Znf_C2H2		0.746	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF444	HGNC	protein_coding	OTTHUMT00000457503.1	0	0	0	1	1	1	0.00	0.00	CCCCGGCAG	NM_018337		56671281	+1	0	0	0	0	tier1	no_errors	ENST00000337080	ensembl	human	known	74_37	in_frame_del	0.00	0.00	DEL	0.998:0.996:0.995:0.994:0.994:0.994:0.994:0.995:0.997	-	0	0
