#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZEB1	6935	broad.mit.edu	37	10	31810592	31810592	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr10:31810592C>G	ENST00000320985.10	+	7	2439	c.2329C>G	c.(2329-2331)Cca>Gca	p.P777A	ZEB1_ENST00000542815.3_Missense_Mutation_p.P710A|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.P778A|ZEB1_ENST00000560721.2_Missense_Mutation_p.P757A|ZEB1_ENST00000446923.2_Missense_Mutation_p.P761A			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	777					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAAAAGGAGCCACAAAAGGA	0.423																																					Ovarian(40;423 959 14296 36701 49589)	Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	0				ovary(3)|central_nervous_system(2)	5						c.(2329-2331)CCA>GCA		zinc finger E-box binding homeobox 1 isoform b							115.0	102.0	106.0					10																	31810592		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810592C>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2329C>G	10.37:g.31810592C>G	ENSP00000319248:p.Pro777Ala					ZEB1_uc001ivr.3_Missense_Mutation_p.P559A|ZEB1_uc010qee.1_Missense_Mutation_p.P559A|ZEB1_uc010qef.1_Missense_Mutation_p.P559A|ZEB1_uc009xlj.1_Missense_Mutation_p.P703A|ZEB1_uc010qeg.1_Missense_Mutation_p.P636A|ZEB1_uc009xlk.1_Missense_Mutation_p.P559A|ZEB1_uc001ivt.3_Missense_Mutation_p.P559A|ZEB1_uc001ivu.3_Missense_Mutation_p.P778A|ZEB1_uc001ivv.3_Missense_Mutation_p.P757A|ZEB1_uc010qeh.1_Missense_Mutation_p.P710A|ZEB1_uc009xlo.1_Missense_Mutation_p.P760A|ZEB1_uc009xlp.2_Missense_Mutation_p.P761A	p.P777A	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	2392	+		Prostate(175;0.0156)	777					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2329C>G	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	5.466	0.270955	0.10349	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.11712	3.04;2.75;2.79;2.75;2.81	5.3	5.3	0.74995	.	0.414681	0.22524	N	0.058931	T	0.32734	0.0839	M	0.63428	1.95	0.54753	D	0.999982	B;D;D;D;D;P;D;D	0.76494	0.008;0.986;0.999;0.999;0.999;0.935;0.999;0.999	B;P;D;D;D;P;D;D	0.80764	0.032;0.737;0.994;0.994;0.994;0.519;0.994;0.994	T	0.00740	-1.1586	10	0.48119	T	0.1	-14.6759	19.3232	0.94250	0.0:1.0:0.0:0.0	.	710;777;761;777;777;757;778;777	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	A	559;777;778;772;710;777;757;668;761	ENSP00000444282:P559A;ENSP00000354487:P778A;ENSP00000444891:P710A;ENSP00000319248:P777A;ENSP00000391612:P761A	ENSP00000319248:P777A	P	+	1	0	ZEB1	31850598	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.669000	0.54561	2.633000	0.89246	0.650000	0.86243	CCA		0.423	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		12	53	0	0	0	0.013537	0	12	53				
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C	rs201391167		TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr10:37431050G>C	ENST00000602533.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408																																							uc001iza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1057-1059)GCA>CCA		ankyrin repeat domain 30A							102.0	102.0	102.0					10																	37431050		1853	4086	5939	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431050G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1057G>C	10.37:g.37431050G>C	ENSP00000473551:p.Ala353Pro						p.A353P	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	1156	+			409					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1057G>C		.	.	.	.	.	.	.	.	.	.	.	2.178	-0.388156	0.04932	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.39592	1.19;1.07	.	.	.	.	.	.	.	.	T	0.28300	0.0699	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.51297	0.665	T	0.16188	-1.0411	7	0.33141	T	0.24	.	.	.	.	.	409	Q9BXX3	AN30A_HUMAN	P	353	ENSP00000354432:A353P;ENSP00000363792:A353P	ENSP00000354432:A353P	A	+	1	0	ANKRD30A	37471056	0.782000	0.28689	0.179000	0.23059	0.179000	0.23085	-0.616000	0.05591	0.088000	0.17205	0.089000	0.15464	GCA		0.408	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	34	0	0	0	0.009096	0	3	34				
GLB1L3	112937	broad.mit.edu	37	11	134158730	134158730	+	Silent	SNP	G	G	A			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr11:134158730G>A	ENST00000431683.2	+	7	675	c.675G>A	c.(673-675)gaG>gaA	p.E225E	GLB1L3_ENST00000389887.5_Silent_p.E225E	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	225					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TGCAAGTGGAGAATGAGTATG	0.502																																							uc009zdf.2		NA																	0				pancreas(1)	1						c.(673-675)GAG>GAA		galactosidase, beta 1 like 3							78.0	79.0	78.0					11																	134158730		1968	4153	6121	SO:0001819	synonymous_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134158730G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.675G>A	11.37:g.134158730G>A						GLB1L3_uc010scs.1_Silent_p.E225E|GLB1L3_uc010sct.1_Silent_p.E77E	p.E225E	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	7	1035	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	225					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	c.675G>A	CCDS44780.1																																																																																				0.502	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		5	26	0	0	0	0.02938	0	5	26				
Unknown	0	broad.mit.edu	37	12	90862	90862	+	IGR	SNP	C	C	T			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr12:90862C>T								AC215219.1 (17540 upstream) : AC026369.1 (56189 downstream)																							GTGTCAGACTCCATCCCTCCT	0.647																																							uc010scy.1		NA																	0					0						c.(727-729)TCC>TTC		SubName: Full=Actin nucleation promoting factor; Flags: Fragment;																																				SO:0001628	intergenic_variant	100288778							g.chr12:90862C>T																													12.37:g.90862C>T						LOC100288778_uc010scz.1_RNA|LOC100288778_uc010sdd.1_3'UTR|LOC100288778_uc010sde.1_Missense_Mutation_p.S243F|LOC100288778_uc010sdf.1_Missense_Mutation_p.S243F|LOC100288778_uc010sdg.1_Missense_Mutation_p.S243F|LOC100288778_uc010sdh.1_RNA	p.S243F							10	1283	+									Missense_Mutation	SNP		37	c.728C>T																																																																																				0	0.647									5	14	0	0	0	0.014758	0	5	14				
KCNA5	3741	broad.mit.edu	37	12	5154827	5154827	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr12:5154827T>C	ENST00000252321.3	+	1	1743	c.1514T>C	c.(1513-1515)gTc>gCc	p.V505A		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	505					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	ATCGCCGGGGTCCTCACCATT	0.607																																							uc001qni.2		NA																	0				ovary(2)|breast(2)	4						c.(1513-1515)GTC>GCC		potassium voltage-gated channel, shaker-related							108.0	98.0	101.0					12																	5154827		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154827T>C	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1514T>C	12.37:g.5154827T>C	ENSP00000252321:p.Val505Ala						p.V505A	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	1743	+			505			Helical; Name=Segment S6; (Potential).		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.1514T>C	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.640561	0.67244	.	.	ENSG00000130037	ENST00000252321	D	0.98747	-5.11	5.15	4.01	0.46588	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99184	0.9717	M	0.92507	3.315	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.99425	1.0934	10	0.87932	D	0	.	10.21	0.43134	0.0:0.0775:0.0:0.9225	.	505	P22460	KCNA5_HUMAN	A	505	ENSP00000252321:V505A	ENSP00000252321:V505A	V	+	2	0	KCNA5	5025088	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.086000	0.71352	0.988000	0.38734	0.459000	0.35465	GTC		0.607	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		8	59	0	0	0	0.008291	0	8	59				
WBP11	51729	broad.mit.edu	37	12	14947586	14947586	+	Silent	SNP	A	A	G			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr12:14947586A>G	ENST00000261167.2	-	7	839	c.606T>C	c.(604-606)ccT>ccC	p.P202P		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	202	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GACCAGGGGGAGGGCCAGGAG	0.512																																							uc001rci.2		NA																	0				ovary(1)|lung(1)	2						c.(604-606)CCT>CCC		WW domain binding protein 11							100.0	107.0	105.0					12																	14947586		2203	4300	6503	SO:0001819	synonymous_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14947586A>G	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.606T>C	12.37:g.14947586A>G							p.P202P	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			7	767	-			202			Pro-rich.		Q96AY8	Silent	SNP	ENST00000261167.2	37	c.606T>C	CCDS8666.1																																																																																				0.512	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		4	114	0	0	0	0.009096	0	4	114				
IL26	55801	broad.mit.edu	37	12	68619484	68619484	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr12:68619484A>T	ENST00000229134.4	-	1	117	c.53T>A	c.(52-54)cTt>cAt	p.L18H	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	18					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GGCAATGGCAAGAGACAGAGT	0.483																																							uc001stx.1		NA																	0					0						c.(52-54)CTT>CAT		interleukin 26 precursor							274.0	237.0	250.0					12																	68619484		2203	4300	6503	SO:0001583	missense	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68619484A>T	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.53T>A	12.37:g.68619484A>T	ENSP00000229134:p.Leu18His						p.L18H	NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	1	88	-			18						Missense_Mutation	SNP	ENST00000229134.4	37	c.53T>A	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304959	0.40795	.	.	ENSG00000111536	ENST00000229134	T	0.63255	-0.03	4.54	0.528	0.17089	Four-helical cytokine, core (1);	0.295501	0.23957	N	0.042887	T	0.59046	0.2165	L	0.54323	1.7	0.09310	N	1	D	0.56968	0.978	P	0.52424	0.698	T	0.51172	-0.8739	9	.	.	.	.	4.2416	0.10650	0.6025:0.0:0.0887:0.3088	.	18	Q9NPH9	IL26_HUMAN	H	18	ENSP00000229134:L18H	.	L	-	2	0	IL26	66905751	0.960000	0.32886	0.109000	0.21407	0.682000	0.39822	1.558000	0.36309	-0.011000	0.14247	0.379000	0.24179	CTT		0.483	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		25	96	0	0	0	0.030593	0	25	96				
DRAM1	55332	broad.mit.edu	37	12	102315025	102315025	+	Missense_Mutation	SNP	A	A	G	rs61748066		TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr12:102315025A>G	ENST00000258534.8	+	7	1143	c.704A>G	c.(703-705)aAt>aGt	p.N235S	DRAM1_ENST00000544152.1_Missense_Mutation_p.N125S|RP11-512N21.3_ENST00000551918.1_RNA	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	235					apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						ACAGAAATCAATGGTGATATT	0.388																																							uc001tix.2		NA																	0				ovary(1)	1						c.(703-705)AAT>AGT		DNA-damage regulated autophagy modulator 1		A	SER/ASN	0,3732		0,0,1866	128.0	119.0	122.0		704	1.1	0.1	12	dbSNP_129	122	1,8215		0,1,4107	no	missense	DRAM1	NM_018370.2	46	0,1,5973	GG,GA,AA		0.0122,0.0,0.0084	benign	235/239	102315025	1,11947	1866	4108	5974	SO:0001583	missense	55332				apoptosis|autophagy	integral to membrane|lysosomal membrane		g.chr12:102315025A>G	BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"""damage-regulated autophagy modulator"""	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.704A>G	12.37:g.102315025A>G	ENSP00000258534:p.Asn235Ser					DRAM1_uc010svv.1_Missense_Mutation_p.N125S	p.N235S	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN			7	1167	+			235					B7Z4T0|Q7L3E3|Q9NUN1	Missense_Mutation	SNP	ENST00000258534.8	37	c.704A>G	CCDS41823.1	.	.	.	.	.	.	.	.	.	.	A	5.239	0.229583	0.09916	0.0	1.22E-4	ENSG00000136048	ENST00000258534;ENST00000544152	.	.	.	4.82	1.13	0.20643	.	0.426872	0.25827	N	0.028043	T	0.11879	0.0289	N	0.03608	-0.345	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.23868	-1.0176	9	0.13853	T	0.58	.	3.9524	0.09375	0.676:0.0:0.1707:0.1532	rs61748066	125;235	B7Z4T0;Q8N682	.;DRAM1_HUMAN	S	235;125	.	ENSP00000258534:N235S	N	+	2	0	DRAM1	100839156	0.910000	0.30920	0.134000	0.22075	0.010000	0.07245	1.607000	0.36836	0.033000	0.15463	-1.174000	0.01732	AAT		0.388	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409195.1	NM_018370		14	76	0	0	0	0.043863	0	14	76				
DNM1P47	100216544	broad.mit.edu	37	15	102294648	102294648	+	RNA	SNP	T	T	C			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr15:102294648T>C	ENST00000561463.1	+	0	2694									DNM1 pseudogene 47																		TTCTCAGAGCTGCTGTCCAAC	0.587																																							uc010usj.1		NA																	0					NA						c.(475-477)CTG>CCG		RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;																																						0							g.chr15:102294648T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294648T>C						uc002bxo.2_5'Flank|uc002bxq.2_5'Flank|uc002bxr.2_5'Flank|uc010usk.1_5'Flank|uc002bxs.2_5'Flank|uc002bxu.1_5'Flank|uc002bxv.1_5'Flank|uc002bxw.1_5'Flank|uc002bxy.1_5'Flank|uc002byb.1_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank|uc002bys.2_5'Flank|uc002byv.2_5'Flank|uc002byx.3_5'Flank|uc002bza.2_5'Flank|uc002bzb.2_5'Flank|uc002bzc.1_5'Flank|uc002bzd.2_5'Flank|uc002bze.2_5'Flank|uc002bzg.2_5'Flank|uc002bzi.1_5'Flank|uc002bzj.2_5'Flank|uc002bzl.2_5'Flank|uc002bzm.2_5'Flank|uc002bzo.2_5'Flank|uc002bzp.2_5'Flank|uc002bzq.2_5'Flank	p.L159P							5	535	+									Missense_Mutation	SNP	ENST00000561463.1	37	c.476T>C																																																																																					0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	34	0	0	0	0.021553	0	4	34				
DNM1P47	100216544	broad.mit.edu	37	15	102294651	102294651	+	RNA	SNP	T	T	G			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr15:102294651T>G	ENST00000561463.1	+	0	2697									DNM1 pseudogene 47																		TCAGAGCTGCTGTCCAACCTG	0.587																																							uc010usj.1		NA																	0					NA						c.(478-480)CTG>CGG		RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;																																						0							g.chr15:102294651T>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294651T>G						uc002bxo.2_5'Flank|uc002bxq.2_5'Flank|uc002bxr.2_5'Flank|uc010usk.1_5'Flank|uc002bxs.2_5'Flank|uc002bxu.1_5'Flank|uc002bxv.1_5'Flank|uc002bxw.1_5'Flank|uc002bxy.1_5'Flank|uc002byb.1_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank|uc002bys.2_5'Flank|uc002byv.2_5'Flank|uc002byx.3_5'Flank|uc002bza.2_5'Flank|uc002bzb.2_5'Flank|uc002bzc.1_5'Flank|uc002bzd.2_5'Flank|uc002bze.2_5'Flank|uc002bzg.2_5'Flank|uc002bzi.1_5'Flank|uc002bzj.2_5'Flank|uc002bzl.2_5'Flank|uc002bzm.2_5'Flank|uc002bzo.2_5'Flank|uc002bzp.2_5'Flank|uc002bzq.2_5'Flank	p.L160R							5	538	+									Missense_Mutation	SNP	ENST00000561463.1	37	c.479T>G																																																																																					0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	35	0	0	0	0.021553	0	3	35				
GRIN2A	2903	broad.mit.edu	37	16	9943638	9943638	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr16:9943638G>A	ENST00000396573.2	-	6	1612	c.1303C>T	c.(1303-1305)Cca>Tca	p.P435S	GRIN2A_ENST00000535259.1_Missense_Mutation_p.P278S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P435S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P435S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P435S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P435S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	435					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTCCGACATGGCACGGTGTTC	0.512																																							uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1303-1305)CCA>TCA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						164.0	128.0	140.0					16																	9943638		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9943638G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1303C>T	16.37:g.9943638G>A	ENSP00000379818:p.Pro435Ser					GRIN2A_uc010uym.1_Missense_Mutation_p.P435S|GRIN2A_uc010uyn.1_Missense_Mutation_p.P278S|GRIN2A_uc002czr.3_Missense_Mutation_p.P435S	p.P435S	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			5	1851	-			435			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1303C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322615	0.95708	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.13538	2.6;2.58;2.6;2.6;2.6	5.31	5.31	0.75309	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	M	0.87682	2.9	0.80722	D	1	D;D;D	0.76494	0.978;0.989;0.999	D;D;D	0.77004	0.923;0.915;0.989	T	0.49224	-0.8962	9	.	.	.	.	17.979	0.89134	0.0:0.0:1.0:0.0	.	278;435;435	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	S	435;435;278;435;435	ENSP00000379818:P435S;ENSP00000385872:P435S;ENSP00000441572:P278S;ENSP00000332549:P435S;ENSP00000379820:P435S	.	P	-	1	0	GRIN2A	9851139	1.000000	0.71417	0.881000	0.34555	0.975000	0.68041	7.710000	0.84655	2.482000	0.83794	0.650000	0.86243	CCA		0.512	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			3	115	0	0	0	0.004672	0	3	115				
SKA1	220134	broad.mit.edu	37	18	47911673	47911673	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr18:47911673T>A	ENST00000285116.3	+	5	610	c.399T>A	c.(397-399)agT>agA	p.S133R	SKA1_ENST00000488454.1_Intron|SKA1_ENST00000417656.2_Intron|SKA1_ENST00000398452.2_Missense_Mutation_p.S133R	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	133					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						AGCAAAGAAGTATTAAGGAAA	0.348																																							uc002let.2		NA																	0					0						c.(397-399)AGT>AGA		spindle and KT associated 1							126.0	131.0	129.0					18																	47911673		2203	4300	6503	SO:0001583	missense	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47911673T>A	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.399T>A	18.37:g.47911673T>A	ENSP00000285116:p.Ser133Arg					SKA1_uc002leu.2_Missense_Mutation_p.S133R|SKA1_uc010xdl.1_Intron	p.S133R	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN			5	583	+			133					B2R9Y6|B4E0P4	Missense_Mutation	SNP	ENST00000285116.3	37	c.399T>A	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	T	8.081	0.772283	0.16051	.	.	ENSG00000154839	ENST00000285116;ENST00000398452	T;T	0.44083	0.93;0.93	5.87	-2.62	0.06152	.	1.429480	0.03731	N	0.253392	T	0.25044	0.0608	L	0.29908	0.895	0.37735	D	0.9254	B	0.24768	0.111	B	0.24974	0.057	T	0.41179	-0.9523	10	0.13470	T	0.59	-8.7284	1.6698	0.02809	0.1272:0.3108:0.2625:0.2994	.	133	Q96BD8	SKA1_HUMAN	R	133	ENSP00000285116:S133R;ENSP00000381470:S133R	ENSP00000285116:S133R	S	+	3	2	SKA1	46165671	0.004000	0.15560	0.009000	0.14445	0.862000	0.49288	-0.342000	0.07801	-0.045000	0.13468	0.533000	0.62120	AGT		0.348	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		3	29	0	0	0	0.009096	0	3	29				
ZNF208	7757	broad.mit.edu	37	19	22155850	22155850	+	Silent	SNP	C	C	T			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr19:22155850C>T	ENST00000397126.4	-	4	2134	c.1986G>A	c.(1984-1986)gaG>gaA	p.E662E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	662					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGCTTCTCTCCAGCAT	0.383																																							uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(1684-1686)GAG>GAA		zinc finger protein 208							58.0	64.0	62.0					19																	22155850		2065	4226	6291	SO:0001819	synonymous_variant	7757							g.chr19:22155850C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1986G>A	19.37:g.22155850C>T						ZNF208_uc002nqo.1_Intron	p.E562E	NM_007153	NP_009084					5	1835	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1686G>A	CCDS54240.1																																																																																				0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		4	42	0	0	0	0.009096	0	4	42				
ZNF208	7757	broad.mit.edu	37	19	22155934	22155934	+	Silent	SNP	C	C	T			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr19:22155934C>T	ENST00000397126.4	-	4	2050	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	634					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGCTTCTCTCCAGCAT	0.398																																							uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(1600-1602)GAG>GAA		zinc finger protein 208							84.0	93.0	90.0					19																	22155934		2134	4256	6390	SO:0001819	synonymous_variant	7757							g.chr19:22155934C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1902G>A	19.37:g.22155934C>T						ZNF208_uc002nqo.1_Intron	p.E534E	NM_007153	NP_009084					5	1751	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1602G>A	CCDS54240.1																																																																																				0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	69	0	0	0	0.009096	0	3	69				
DPF1	8193	broad.mit.edu	37	19	38704349	38704349	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr19:38704349G>A	ENST00000420980.2	-	9	921	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	DPF1_ENST00000355526.4_Missense_Mutation_p.R343W|DPF1_ENST00000416611.1_Missense_Mutation_p.R317W|DPF1_ENST00000414789.1_Missense_Mutation_p.R261W|DPF1_ENST00000412732.1_Missense_Mutation_p.R261W|DPF1_ENST00000456296.1_Missense_Mutation_p.R317W	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	299					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGTAGGTCCGCACGGCTGCC	0.667																																							uc002ohl.2		NA																	0					0						c.(895-897)CGG>TGG		D4, zinc and double PHD fingers family 1 isoform							60.0	55.0	57.0					19																	38704349		2203	4300	6503	SO:0001583	missense	8193				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38704349G>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.895C>T	19.37:g.38704349G>A	ENSP00000397354:p.Arg299Trp					DPF1_uc002ohm.2_Missense_Mutation_p.R343W|DPF1_uc002ohn.2_Missense_Mutation_p.R261W|DPF1_uc010xtu.1_Missense_Mutation_p.R317W|DPF1_uc010xtv.1_Missense_Mutation_p.R317W	p.R299W	NM_004647	NP_004638	Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	922	-	all_cancers(60;1.24e-06)		299			PHD-type 1.		B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.895C>T	CCDS33008.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.45|17.45	3.393285|3.393285	0.62066|0.62066	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000355526|ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296	.|D;D;D;D;D	.|0.87729	.|-2.29;-2.29;-2.29;-2.29;-2.29	4.05|4.05	1.72|1.72	0.24424|0.24424	.|Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.|0.000000	.|0.56097	.|U	.|0.000027	D|D	0.91666|0.91666	0.7366|0.7366	M|M	0.72353|0.72353	2.195|2.195	0.40899|0.40899	D|D	0.984138|0.984138	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999	.|D;D;D;D;D	.|0.87578	.|0.998;0.985;0.992;0.981;0.981	D|D	0.92178|0.92178	0.5749|0.5749	5|10	.|0.87932	.|D	.|0	-15.831|-15.831	12.4279|12.4279	0.55557|0.55557	0.0:0.0:0.6877:0.3123|0.0:0.0:0.6877:0.3123	.|.	.|317;316;343;343;299	.|E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782	.|.;.;.;.;DPF1_HUMAN	V|W	335|299;343;261;317;261;317	.|ENSP00000397354:R299W;ENSP00000412098:R261W;ENSP00000390223:R317W;ENSP00000391884:R261W;ENSP00000411569:R317W	.|ENSP00000412098:R261W	A|R	-|-	2|1	0|2	DPF1|DPF1	43396189|43396189	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	0.802000|0.802000	0.27069|0.27069	0.897000|0.897000	0.36392|0.36392	-0.493000|-0.493000	0.04662|0.04662	GCG|CGG		0.667	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			3	103	0	0	0	0.004672	0	3	103				
PSG8	440533	broad.mit.edu	37	19	43258606	43258606	+	Silent	SNP	T	T	A			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr19:43258606T>A	ENST00000306511.4	-	5	1219	c.1122A>T	c.(1120-1122)ctA>ctT	p.L374L	PSG8_ENST00000404209.4_Silent_p.L374L|PSG8_ENST00000401467.2_Silent_p.L281L|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Silent_p.L252L	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	374	Ig-like C2-type 3.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTTGTCCTGATAGCTGAAACT	0.463																																							uc002ouo.2		NA																	0					0						c.(1120-1122)CTA>CTT		pregnancy specific beta-1-glycoprotein 8 isoform							194.0	214.0	207.0					19																	43258606		2203	4299	6502	SO:0001819	synonymous_variant	440533					extracellular region		g.chr19:43258606T>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1122A>T	19.37:g.43258606T>A						PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Silent_p.L213L|PSG8_uc002ouh.2_Silent_p.L374L|PSG8_uc010ein.2_Silent_p.L252L|PSG8_uc002ouj.3_Silent_p.L156L|PSG8_uc002ouk.3_Silent_p.L213L|PSG8_uc002oul.3_Silent_p.L374L|PSG8_uc002oum.3_Silent_p.L281L|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Silent_p.L281L	p.L374L	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			5	1220	-		Prostate(69;0.00899)	374			Ig-like C2-type 3.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	c.1122A>T	CCDS33037.1																																																																																				0.463	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			21	212	0	0	0	0.030593	0	21	212				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041						uc002pnn.1		NA																	2	Substitution - Missense(2)		endometrium(2)		0						c.(64-66)CTG>GTG		parathyroid hormone 2 preproprotein			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449	NP_848544	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	166	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	25	0	0	0	0.009096	0	3	25				
ID2	3398	broad.mit.edu	37	2	8822342	8822342	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr2:8822342C>T	ENST00000234091.4	+	3	907	c.47C>T	c.(46-48)tCg>tTg	p.S16L	ID2_ENST00000396290.1_Missense_Mutation_p.S16L|ID2_ENST00000331129.3_Missense_Mutation_p.S16L|AC011747.7_ENST00000455965.1_RNA			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	16					adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AACAGCCTGTCGGACCACAGC	0.597																																							uc010yiu.1		NA																	0					0						c.(46-48)TCG>TTG		inhibitor of DNA binding 2							69.0	71.0	71.0					2																	8822342		2203	4300	6503	SO:0001583	missense	3398				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	g.chr2:8822342C>T		CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"""Basic helix-loop-helix proteins"""	5361	protein-coding gene	gene with protein product	"""cell growth-inhibiting gene 8"""	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.47C>T	2.37:g.8822342C>T	ENSP00000234091:p.Ser16Leu					ID2_uc002qza.2_Missense_Mutation_p.S16L	p.S16L	NM_002166	NP_002157	Q02363	ID2_HUMAN			3	542	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		16						Missense_Mutation	SNP	ENST00000234091.4	37	c.47C>T	CCDS1659.1	.	.	.	.	.	.	.	.	.	.	c	25.1	4.604053	0.87157	.	.	ENSG00000115738	ENST00000234091;ENST00000396290;ENST00000331129	.	.	.	5.54	5.54	0.83059	Helix-loop-helix DNA-binding (1);	0.177040	0.47852	D	0.000218	T	0.51278	0.1665	L	0.46819	1.47	0.50039	D	0.999848	P	0.36768	0.569	B	0.28139	0.086	T	0.56745	-0.7928	9	0.59425	D	0.04	-4.2544	19.1101	0.93313	0.0:1.0:0.0:0.0	.	16	Q02363	ID2_HUMAN	L	16	.	ENSP00000234091:S16L	S	+	2	0	ID2	8739793	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.778000	0.85637	2.606000	0.88127	0.550000	0.68814	TCG		0.597	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231925.2	NM_002166		5	39	0	0	0	0.02938	0	5	39				
TTN	7273	broad.mit.edu	37	2	179592542	179592542	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr2:179592542T>A	ENST00000591111.1	-	66	19036	c.18812A>T	c.(18811-18813)gAt>gTt	p.D6271V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D6588V|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D5344V			Q8WZ42	TITIN_HUMAN	titin	13048	Ig-like 44.				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)			CACTGTAGAATCAGGTATGGC	0.353																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16030-16032)GAT>GTT		titin isoform N2-A							90.0	89.0	89.0					2																	179592542		1844	4086	5930	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592542T>A	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.18812A>T	2.37:g.179592542T>A	ENSP00000465570:p.Asp6271Val					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2005V	p.D5344V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		65	16255	-			6271					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	ENST00000591111.1	37	c.16031A>T		.	.	.	.	.	.	.	.	.	.	T	9.680	1.149089	0.21288	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79118	0.4392	M	0.70275	2.135	0.80722	D	1	D	0.67145	0.996	P	0.59357	0.856	T	0.81551	-0.0881	9	0.87932	D	0	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	6271	Q8WZ42	TITIN_HUMAN	V	5344	ENSP00000343764:D5344V	ENSP00000343764:D5344V	D	-	2	0	TTN	179300787	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.360000	0.52299	2.291000	0.77112	0.533000	0.62120	GAT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	22	0	0	0	0.006214	0	8	22				
RALGAPA2	57186	broad.mit.edu	37	20	20600000	20600000	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr20:20600000A>C	ENST00000202677.7	-	12	1467	c.1460T>G	c.(1459-1461)tTc>tGc	p.F487C		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	487					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGCACTTGTGAAGGAGTATGT	0.483																																							uc002wrz.2		NA																	0				ovary(1)	1						c.(1459-1461)TTC>TGC		akt substrate AS250							82.0	78.0	79.0					20																	20600000		1939	4150	6089	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20600000A>C	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1460T>G	20.37:g.20600000A>C	ENSP00000202677:p.Phe487Cys					RALGAPA2_uc010gcx.2_Missense_Mutation_p.F191C|RALGAPA2_uc010zsg.1_5'UTR	p.F487C	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			12	1603	-			487					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.1460T>G	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.8|23.8	4.460506|4.460506	0.84317|0.84317	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.81163|.	-1.46|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75199|0.75199	0.3817|0.3817	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999991|0.999991	D|.	0.76494|.	0.999|.	D|.	0.69307|.	0.963|.	T|T	0.75502|0.75502	-0.3295|-0.3295	10|5	0.87932|.	D|.	0|.	.|.	16.0796|16.0796	0.80995|0.80995	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	487|.	Q2PPJ7|.	RGPA2_HUMAN|.	C|A	487|304	ENSP00000202677:F487C|.	ENSP00000202677:F487C|.	F|S	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20548000|20548000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.629000|8.629000	0.90983|0.90983	2.206000|2.206000	0.71126|0.71126	0.533000|0.533000	0.62120|0.62120	TTC|TCA		0.483	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		3	13	0	0	0	0.004672	0	3	13				
MYT1	4661	broad.mit.edu	37	20	62839705	62839705	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr20:62839705G>A	ENST00000328439.1	+	7	1520	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.A386T	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCAGGCCATCGCCCTGAAGGC	0.662																																					GBM(59;481 1041 20555 21139 33705)	GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	0				ovary(2)	2						c.(1156-1158)GCC>ACC		myelin transcription factor 1							55.0	49.0	51.0					20																	62839705		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839705G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1156G>A	20.37:g.62839705G>A	ENSP00000327465:p.Ala386Thr					MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Missense_Mutation_p.A18T	p.A386T	NM_004535	NP_004526	Q01538	MYT1_HUMAN			7	1520	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		386					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.1156G>A	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	17.30	3.354900	0.61293	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.63580	-0.05;1.55	4.46	4.46	0.54185	.	0.061955	0.64402	D	0.000006	T	0.80374	0.4611	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.84288	0.0498	10	0.87932	D	0	-14.8737	17.157	0.86794	0.0:0.0:1.0:0.0	.	386;386	F5H7M8;Q01538	.;MYT1_HUMAN	T	386	ENSP00000327465:A386T;ENSP00000442412:A386T	ENSP00000327465:A386T	A	+	1	0	MYT1	62310149	1.000000	0.71417	0.974000	0.42286	0.471000	0.32888	9.529000	0.98049	2.051000	0.60960	0.450000	0.29827	GCC		0.662	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		9	32	0	0	0	0.016723	0	9	32				
ITSN1	6453	broad.mit.edu	37	21	35147397	35147397	+	Silent	SNP	A	A	G			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr21:35147397A>G	ENST00000381318.3	+	14	1869	c.1581A>G	c.(1579-1581)ctA>ctG	p.L527L	ITSN1_ENST00000399338.4_Silent_p.L527L|ITSN1_ENST00000399352.1_Silent_p.L527L|ITSN1_ENST00000399353.1_Silent_p.L490L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Silent_p.L527L|ITSN1_ENST00000381291.4_Silent_p.L527L|ITSN1_ENST00000437442.2_Silent_p.L527L|ITSN1_ENST00000399367.3_Silent_p.L527L|ITSN1_ENST00000381285.4_Silent_p.L527L|ITSN1_ENST00000399326.3_Silent_p.L527L|ITSN1_ENST00000379960.5_Silent_p.L527L|ITSN1_ENST00000399355.2_Silent_p.L527L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	527	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCACCCATCTACAGCAACAAT	0.353																																							uc002yta.1		NA																	0				ovary(3)|skin(1)	4						c.(1579-1581)CTA>CTG		intersectin 1 isoform ITSN-l							91.0	93.0	92.0					21																	35147397		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35147397A>G	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1581A>G	21.37:g.35147397A>G						DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.L527L|ITSN1_uc010gmg.2_Silent_p.L490L|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.L527L|ITSN1_uc010gmi.2_Silent_p.L490L|ITSN1_uc010gmj.2_Silent_p.L411L|ITSN1_uc002ysy.2_Silent_p.L527L|ITSN1_uc002ysx.2_Silent_p.L490L|ITSN1_uc002ytb.1_Silent_p.L527L|ITSN1_uc002ytc.1_Silent_p.L527L|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.L490L|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Silent_p.L527L|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.L461L	p.L527L	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			14	1849	+			527			Potential.|KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.1581A>G	CCDS33545.1																																																																																				0.353	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		6	34	0	0	0	0.02938	0	6	34				
RRP1	8568	broad.mit.edu	37	21	45220445	45220445	+	Silent	SNP	C	C	T	rs199611237		TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr21:45220445C>T	ENST00000497547.1	+	10	1056	c.939C>T	c.(937-939)cgC>cgT	p.R313R	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		TGGCCAGCCGCCAGAGCACCC	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19566	0.0		0.001	False		,,,				2504	0.0						uc002zds.2		NA																	0					0						c.(937-939)CGC>CGT		ribosomal RNA processing 1 homolog							58.0	61.0	60.0					21																	45220445		2039	4194	6233	SO:0001819	synonymous_variant	8568				rRNA processing	nucleolus|preribosome, small subunit precursor		g.chr21:45220445C>T	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.939C>T	21.37:g.45220445C>T						RRP1_uc011aez.1_Silent_p.R313R|RRP1_uc010gpk.1_Silent_p.R163R|RRP1_uc010gpl.1_Silent_p.R211R|RRP1_uc010gpm.1_Silent_p.R180R	p.R313R	NM_003683	NP_003674	P56182	RRP1_HUMAN		COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)	10	1032	+			313					A6NIB2	Silent	SNP	ENST00000497547.1	37	c.939C>T	CCDS42951.1																																																																																				0.552	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		4	24	0	0	0	0.014758	0	4	24				
ZNF74	7625	broad.mit.edu	37	22	20760303	20760303	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr22:20760303C>T	ENST00000400451.2	+	5	1494	c.980C>T	c.(979-981)aCg>aTg	p.T327M	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.T295M|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.T327M	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	327					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGCATCCACACGGGCGAGCGG	0.672																																							uc010gsm.2		NA																	0				ovary(1)	1						c.(979-981)ACG>ATG		zinc finger protein 74							42.0	45.0	44.0					22																	20760303		2203	4300	6503	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20760303C>T	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.980C>T	22.37:g.20760303C>T	ENSP00000383301:p.Thr327Met					ZNF74_uc002zsg.2_Missense_Mutation_p.T256M|ZNF74_uc002zsh.2_Missense_Mutation_p.T327M|ZNF74_uc002zsi.2_Missense_Mutation_p.T256M|ZNF74_uc010gsn.2_Missense_Mutation_p.T256M	p.T327M	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1192	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	327					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.980C>T	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947953	0.73787	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.26373	1.74;1.74;1.74	3.85	3.85	0.44370	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41396	D	0.000886	T	0.52354	0.1729	M	0.83223	2.63	0.34052	D	0.656235	D	0.89917	1.0	D	0.74023	0.982	T	0.69379	-0.5161	10	0.87932	D	0	-31.9491	14.074	0.64877	0.0:1.0:0.0:0.0	.	327	Q16587	ZNF74_HUMAN	M	327;327;295	ENSP00000383301:T327M;ENSP00000349098:T327M;ENSP00000385855:T295M	ENSP00000349098:T327M	T	+	2	0	ZNF74	19090303	0.996000	0.38824	0.997000	0.53966	0.697000	0.40408	3.451000	0.52964	2.449000	0.82847	0.655000	0.94253	ACG		0.672	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		7	38	0	0	0	0.038147	0	7	38				
SCN10A	6336	broad.mit.edu	37	3	38798590	38798590	+	Silent	SNP	G	G	C			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr3:38798590G>C	ENST00000449082.2	-	8	1010	c.1011C>G	c.(1009-1011)acC>acG	p.T337T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	337					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AATCAAAGCTGGTGTAGTTAA	0.502																																							uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(1009-1011)ACC>ACG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						105.0	106.0	106.0					3																	38798590		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38798590G>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1011C>G	3.37:g.38798590G>C							p.T337T	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	8	1011	-			337			I.		A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.1011C>G	CCDS33736.1																																																																																				0.502	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		9	39	0	0	0	0.008291	0	9	39				
PLXNB1	5364	broad.mit.edu	37	3	48454284	48454284	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr3:48454284C>G	ENST00000358536.4	-	25	4990	c.4721G>C	c.(4720-4722)aGg>aCg	p.R1574T	PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1574T|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000448774.2_Missense_Mutation_p.R185T|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1391T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1391T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1574					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAAGAAGATCCTCTCCGCATA	0.612																																							uc003csw.2		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(4720-4722)AGG>ACG		plexin B1 precursor							72.0	70.0	71.0					3																	48454284		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48454284C>G	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4721G>C	3.37:g.48454284C>G	ENSP00000351338:p.Arg1574Thr					PLXNB1_uc003cst.2_Missense_Mutation_p.R24T|PLXNB1_uc003csu.2_Missense_Mutation_p.R1391T|PLXNB1_uc003csx.2_Missense_Mutation_p.R1574T	p.R1574T	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	25	4991	-			1574			Cytoplasmic (Potential).		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.4721G>C	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357955	0.82243	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	4.6	4.6	0.57074	Plexin, cytoplasmic RasGAP domain (1);	0.116094	0.56097	D	0.000031	T	0.51261	0.1664	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	T	0.64202	-0.6463	10	0.87932	D	0	.	16.6468	0.85178	0.0:1.0:0.0:0.0	.	1574;1391	O43157;O43157-2	PLXB1_HUMAN;.	T	1574;1391;1574;185;1391	ENSP00000296440:R1574T;ENSP00000351242:R1391T;ENSP00000351338:R1574T;ENSP00000389320:R185T;ENSP00000414199:R1391T	ENSP00000296440:R1574T	R	-	2	0	PLXNB1	48429288	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	7.574000	0.82434	2.396000	0.81511	0.558000	0.71614	AGG		0.612	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		8	71	0	0	0	0.004482	0	8	71				
FRYL	285527	broad.mit.edu	37	4	48622705	48622705	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr4:48622705C>A	ENST00000503238.1	-	3	264	c.265G>T	c.(265-267)Gaa>Taa	p.E89*	FRYL_ENST00000507711.1_Nonsense_Mutation_p.E89*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E89*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.E89*|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GATTCATCTTCCGTTCCATTT	0.428																																							uc003gyh.1		NA																	0				skin(1)	1						c.(265-267)GAA>TAA		furry-like							181.0	167.0	171.0					4																	48622705		1880	4102	5982	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48622705C>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.265G>T	4.37:g.48622705C>A	ENSP00000426064:p.Glu89*					FRYL_uc003gyk.2_Nonsense_Mutation_p.E89*|FRYL_uc003gyl.1_Nonsense_Mutation_p.E140*|FRYL_uc003gym.1_Nonsense_Mutation_p.E89*	p.E89*	NM_015030	NP_055845	O94915	FRYL_HUMAN			6	870	-			89					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.265G>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591508	0.66219	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000505759	.	.	.	5.91	5.91	0.95273	.	0.073552	0.53938	U	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	18.4761	0.90793	0.0:1.0:0.0:0.0	.	.	.	.	X	89;89;89;89;181	.	ENSP00000351113:E89X	E	-	1	0	FRYL	48317462	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.506000	0.81665	2.805000	0.96524	0.460000	0.39030	GAA		0.428	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			7	74	1	0	1.12685e-05	0.004482	1.2771e-05	7	74				
ALPK1	80216	broad.mit.edu	37	4	113356393	113356393	+	Nonsense_Mutation	SNP	A	A	T			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr4:113356393A>T	ENST00000458497.1	+	12	3403	c.3124A>T	c.(3124-3126)Aaa>Taa	p.K1042*	ALPK1_ENST00000177648.9_Nonsense_Mutation_p.K1042*|ALPK1_ENST00000504176.2_Nonsense_Mutation_p.K964*	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1042	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GACTGTGAAGAAAAAAGGCAG	0.348																																							uc003iap.3		NA																	0				ovary(5)	5						c.(3124-3126)AAA>TAA		alpha-kinase 1							146.0	173.0	164.0					4																	113356393		2203	4300	6503	SO:0001587	stop_gained	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113356393A>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3124A>T	4.37:g.113356393A>T	ENSP00000398048:p.Lys1042*					ALPK1_uc003ian.3_Nonsense_Mutation_p.K1042*|ALPK1_uc011cfx.1_Nonsense_Mutation_p.K964*|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Nonsense_Mutation_p.K870*	p.K1042*	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	12	3403	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1042			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Nonsense_Mutation	SNP	ENST00000458497.1	37	c.3124A>T	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	43	10.380200	0.99394	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	.	.	.	5.94	5.94	0.96194	.	0.126503	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4289	16.3951	0.83601	1.0:0.0:0.0:0.0	.	.	.	.	X	1042;1042;964	.	ENSP00000177648:K1042X	K	+	1	0	ALPK1	113575842	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.765000	0.55272	2.272000	0.75746	0.460000	0.39030	AAA		0.348	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		11	111	0	0	0	0.020292	0	11	111				
ZFYVE16	9765	broad.mit.edu	37	5	79733547	79733547	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr5:79733547G>C	ENST00000338008.5	+	3	1223	c.1043G>C	c.(1042-1044)aGt>aCt	p.S348T	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S348T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S348T	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	348					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GACTCAAAAAGTTTAGACCTT	0.353																																					Melanoma(150;1452 1854 16018 17851 37292)	Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.3		NA																	0					0						c.(1042-1044)AGT>ACT		zinc finger, FYVE domain containing 16							113.0	109.0	110.0					5																	79733547		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79733547G>C	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.1043G>C	5.37:g.79733547G>C	ENSP00000337159:p.Ser348Thr					ZFYVE16_uc010jak.1_Missense_Mutation_p.S348T|ZFYVE16_uc003kgp.2_Missense_Mutation_p.S348T|ZFYVE16_uc003kgq.3_Missense_Mutation_p.S348T|ZFYVE16_uc003kgs.3_Missense_Mutation_p.S348T	p.S348T	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	4	1345	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	348					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.1043G>C	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	A	0.089	-1.169849	0.01660	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.38240	1.15;1.15;1.15	5.1	2.44	0.29823	.	0.488081	0.18810	N	0.130559	T	0.14527	0.0351	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.25117	-1.0141	10	0.14656	T	0.56	0.2843	4.3501	0.11151	0.5173:0.1697:0.313:0.0	.	348;348	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	T	348	ENSP00000337159:S348T;ENSP00000423663:S348T;ENSP00000426848:S348T	ENSP00000337159:S348T	S	+	2	0	ZFYVE16	79769303	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.012000	0.13287	0.337000	0.23665	-0.360000	0.07572	AGT		0.353	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		10	27	0	0	0	0.010729	0	10	27				
PCDHB15	56121	broad.mit.edu	37	5	140625619	140625619	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr5:140625619G>A	ENST00000231173.3	+	1	473	c.473G>A	c.(472-474)cGg>cAg	p.R158Q		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAAAAGCTCGGGACTTGGAC	0.448																																							uc003lje.2		NA																	0				ovary(2)|breast(2)|skin(1)	5						c.(472-474)CGG>CAG		protocadherin beta 15 precursor							54.0	57.0	56.0					5																	140625619		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625619G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.473G>A	5.37:g.140625619G>A	ENSP00000231173:p.Arg158Gln						p.R158Q	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	473	+			158			Extracellular (Potential).|Cadherin 2.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.473G>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	A	0.484	-0.878518	0.02550	.	.	ENSG00000113248	ENST00000231173	T	0.51071	0.72	4.92	3.77	0.43336	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12008	0.0292	N	0.00219	-1.825	0.20489	N	0.999893	B	0.10296	0.003	B	0.08055	0.003	T	0.22695	-1.0209	9	0.02654	T	1	.	9.7994	0.40755	0.9147:0.0:0.0853:0.0	.	158	Q9Y5E8	PCDBF_HUMAN	Q	158	ENSP00000231173:R158Q	ENSP00000231173:R158Q	R	+	2	0	PCDHB15	140605803	0.000000	0.05858	0.983000	0.44433	0.836000	0.47400	1.009000	0.29886	0.840000	0.34995	-0.339000	0.08088	CGG		0.448	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		3	38	0	0	0	0.009096	0	3	38				
BTN2A2	10385	broad.mit.edu	37	6	26384103	26384103	+	Silent	SNP	C	C	G			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr6:26384103C>G	ENST00000356709.4	+	2	165	c.54C>G	c.(52-54)ctC>ctG	p.L18L	BTN2A2_ENST00000416795.2_Silent_p.L18L|BTN2A2_ENST00000482536.1_Silent_p.L18L|BTN2A2_ENST00000469230.1_Silent_p.L18L|BTN2A2_ENST00000432533.2_Silent_p.L18L|BTN2A2_ENST00000352867.2_Silent_p.L18L	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	18					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						tcctcctcctcctgctcctcc	0.587																																							uc003nhq.2		NA																	0					0						c.(52-54)CTC>CTG		butyrophilin, subfamily 2, member A2 isoform a							168.0	122.0	138.0					6																	26384103		2203	4300	6503	SO:0001819	synonymous_variant	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26384103C>G	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.54C>G	6.37:g.26384103C>G						BTN2A2_uc011dkf.1_Silent_p.L18L|BTN2A2_uc011dkg.1_Silent_p.L18L|BTN2A2_uc003nhr.2_Silent_p.L18L|BTN2A2_uc011dkh.1_Silent_p.L18L|BTN2A2_uc003nhs.2_Silent_p.L18L|BTN2A2_uc003nht.2_Silent_p.L18L	p.L18L	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			2	140	+			18					A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Silent	SNP	ENST00000356709.4	37	c.54C>G	CCDS4606.1																																																																																				0.587	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			3	70	0	0	0	0.009096	0	3	70				
CD109	135228	broad.mit.edu	37	6	74497176	74497176	+	Splice_Site	SNP	G	G	T			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr6:74497176G>T	ENST00000287097.5	+	21	2668		c.e21+1		CD109_ENST00000437994.2_Splice_Site|CD109_ENST00000422508.2_Splice_Site			Q6YHK3	CD109_HUMAN	CD109 molecule						negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTAGTAAAGGTAAATATTTG	0.378																																							uc003php.2		NA																	0				large_intestine(2)|ovary(2)	4						c.e21+1		CD109 antigen isoform 1 precursor							66.0	66.0	66.0					6																	74497176		2203	4300	6503	SO:0001630	splice_region_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74497176G>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2556+1G>T	6.37:g.74497176G>T						CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Splice_Site_p.K852_splice|CD109_uc010kba.2_Splice_Site_p.K775_splice	p.K852_splice	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			21	2981	+								A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Splice_Site	SNP	ENST00000287097.5	37	c.2556_splice	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608387	0.46527	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4929	0.95059	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD109	74553897	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	8.827000	0.92041	2.835000	0.97688	0.650000	0.86243	.		0.378	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	Intron	10	30	1	0	3.03607e-14	0.013537	3.51908e-14	10	30				
PCLO	27445	broad.mit.edu	37	7	82763935	82763935	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr7:82763935T>G	ENST00000333891.9	-	3	3268	c.2931A>C	c.(2929-2931)caA>caC	p.Q977H	PCLO_ENST00000423517.2_Missense_Mutation_p.Q977H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGGTGGCCCTTGTGAAGTAG	0.507																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(2929-2931)CAA>CAC		piccolo isoform 1							53.0	53.0	53.0					7																	82763935		1938	4127	6065	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82763935T>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2931A>C	7.37:g.82763935T>G	ENSP00000334319:p.Gln977His					PCLO_uc003uhv.2_Missense_Mutation_p.Q977H	p.Q977H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	3220	-			923			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2931A>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	1.374	-0.585216	0.03827	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.22;2.22	6.07	3.29	0.37713	.	.	.	.	.	T	0.14787	0.0357	L	0.50919	1.6	0.80722	D	1	B;B	0.25743	0.133;0.133	B;B	0.23018	0.043;0.043	T	0.06356	-1.0831	9	0.87932	D	0	.	5.5733	0.17208	0.1291:0.5956:0.0:0.2753	.	977;977	Q9Y6V0-5;Q9Y6V0-6	.;.	H	923;977;977	ENSP00000334319:Q977H;ENSP00000388393:Q977H	ENSP00000334319:Q977H	Q	-	3	2	PCLO	82601871	0.728000	0.28080	0.992000	0.48379	0.035000	0.12851	-0.187000	0.09656	0.883000	0.36040	-0.242000	0.12053	CAA		0.507	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	14	0	0	0	0.014758	0	4	14				
DPYSL2	1808	broad.mit.edu	37	8	26441458	26441458	+	Missense_Mutation	SNP	A	A	G	rs113269672		TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr8:26441458A>G	ENST00000311151.5	+	3	684	c.272A>G	c.(271-273)cAa>cGa	p.Q91R	DPYSL2_ENST00000523027.1_Missense_Mutation_p.Q55R|DPYSL2_ENST00000521913.1_Missense_Mutation_p.Q55R	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	91					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GATTTCTTCCAAGGAACCAAG	0.498																																							uc003xfb.1		NA																	0				large_intestine(1)	1						c.(271-273)CAA>CGA		dihydropyrimidinase-like 2							117.0	115.0	116.0					8																	26441458		2203	4300	6503	SO:0001583	missense	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26441458A>G	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.272A>G	8.37:g.26441458A>G	ENSP00000309539:p.Gln91Arg					DPYSL2_uc003xfa.2_Missense_Mutation_p.Q196R|DPYSL2_uc011lag.1_Missense_Mutation_p.Q91R|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.Q55R	p.Q91R	NM_001386	NP_001377	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	3	622	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	91					A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	c.272A>G	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.879638	0.91740	.	.	ENSG00000092964	ENST00000521913;ENST00000493789;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D;D	0.90069	-2.61;-2.17;-2.61;-2.61;-2.61	5.48	5.48	0.80851	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.92961	0.7760	M	0.64567	1.98	0.80722	D	1	B;P;D	0.57257	0.016;0.898;0.979	B;D;D	0.72982	0.033;0.947;0.979	D	0.91807	0.5456	10	0.33141	T	0.24	-12.0756	15.7462	0.77944	1.0:0.0:0.0:0.0	.	91;91;147	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	R	55;163;91;91;55	ENSP00000427985:Q55R;ENSP00000427954:Q163R;ENSP00000309539:Q91R;ENSP00000428909:Q91R;ENSP00000431117:Q55R	ENSP00000309539:Q91R	Q	+	2	0	DPYSL2	26497375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.307000	0.77673	0.528000	0.53228	CAA		0.498	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		18	84	0	0	0	0.01892	0	18	84				
ARFGEF1	10565	broad.mit.edu	37	8	68140474	68140474	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr8:68140474C>A	ENST00000262215.3	-	24	3795	c.3406G>T	c.(3406-3408)Gat>Tat	p.D1136Y	ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D590Y	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1136					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCATTTCCATCTAGCCTTGTA	0.308																																							uc003xxo.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(3406-3408)GAT>TAT		brefeldin A-inhibited guanine							118.0	126.0	124.0					8																	68140474		2201	4298	6499	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68140474C>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3406G>T	8.37:g.68140474C>A	ENSP00000262215:p.Asp1136Tyr					ARFGEF1_uc003xxl.1_Missense_Mutation_p.D590Y|ARFGEF1_uc003xxn.1_Missense_Mutation_p.D119Y	p.D1136Y	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		24	3796	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1136					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3406G>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205280	0.79127	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.52754	0.65;0.65	5.37	5.37	0.77165	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.982;0.982	T	0.78440	-0.2203	10	0.87932	D	0	.	19.1054	0.93293	0.0:1.0:0.0:0.0	.	1136;614;590	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	Y	590;1136	ENSP00000428429:D590Y;ENSP00000262215:D1136Y	ENSP00000262215:D1136Y	D	-	1	0	ARFGEF1	68303028	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.487000	0.83934	0.655000	0.94253	GAT		0.308	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		9	102	1	0	0.00829132	0.008291	0.00919255	9	102				
TOP1MT	116447	broad.mit.edu	37	8	144406735	144406735	+	Missense_Mutation	SNP	C	C	T	rs200437445		TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr8:144406735C>T	ENST00000329245.4	-	6	770	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	TOP1MT_ENST00000523676.1_Missense_Mutation_p.V148I|TOP1MT_ENST00000519148.1_Missense_Mutation_p.V148I|TOP1MT_ENST00000521193.1_Missense_Mutation_p.V148I	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	246					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGCCACGTGACGGTGTTATCG	0.592																																							uc003yxz.2		NA																	0				ovary(1)	1						c.(736-738)GTC>ATC		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)	C	ILE/VAL	0,4406		0,0,2203	137.0	119.0	125.0		736	3.4	0.0	8		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOP1MT	NM_052963.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	246/602	144406735	1,13005	2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144406735C>T	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.736G>A	8.37:g.144406735C>T	ENSP00000328835:p.Val246Ile					TOP1MT_uc011lkd.1_Missense_Mutation_p.V148I|TOP1MT_uc011lke.1_Missense_Mutation_p.V148I|TOP1MT_uc010mfb.2_Missense_Mutation_p.V148I|TOP1MT_uc011lkf.1_Missense_Mutation_p.V41I|TOP1MT_uc010mfd.1_Missense_Mutation_p.V41I	p.V246I	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		6	755	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		246					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.736G>A	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042457	0.55003	0.0	1.16E-4	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	3.44	3.44	0.39384	DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.000000	0.40728	U	0.001040	T	0.68329	0.2989	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74023	0.982;0.976	T	0.79210	-0.1897	10	0.87932	D	0	.	13.8723	0.63626	0.0:1.0:0.0:0.0	.	41;246	E7ESI1;Q969P6	.;TOP1M_HUMAN	I	246;148;148;148;148;148	ENSP00000328835:V246I;ENSP00000428369:V148I;ENSP00000429169:V148I;ENSP00000429181:V148I;ENSP00000427998:V148I;ENSP00000429177:V148I	ENSP00000328835:V246I	V	-	1	0	TOP1MT	144478110	1.000000	0.71417	0.011000	0.14972	0.017000	0.09413	6.387000	0.73191	1.432000	0.47375	0.609000	0.83330	GTC		0.592	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		6	113	0	0	0	0.021553	0	6	113				
ARHGEF9	23229	broad.mit.edu	37	X	62944546	62944546	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chrX:62944546G>A	ENST00000253401.6	-	2	855	c.55C>T	c.(55-57)Cac>Tac	p.H19Y	ARHGEF9_ENST00000374872.1_5'UTR|ARHGEF9_ENST00000374870.4_Intron|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Intron|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.H17Y	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	19	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						ATGGTGACGTGATCCCATACT	0.512																																							uc004dvl.2		NA																	0				ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						c.(55-57)CAC>TAC		Cdc42 guanine exchange factor 9							155.0	104.0	122.0					X																	62944546		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62944546G>A	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.55C>T	X.37:g.62944546G>A	ENSP00000253401:p.His19Tyr					ARHGEF9_uc004dvj.1_Intron|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_5'UTR|ARHGEF9_uc004dvm.1_5'UTR|ARHGEF9_uc011mot.1_Intron|ARHGEF9_uc004dvn.2_Missense_Mutation_p.H26Y	p.H19Y	NM_015185	NP_056000	O43307	ARHG9_HUMAN			2	894	-			19			SH3.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.55C>T	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236015	0.79800	.	.	ENSG00000131089	ENST00000253401;ENST00000374878	T;T	0.21191	2.02;2.02	5.44	5.44	0.79542	Src homology-3 domain (3);	0.000000	0.85682	U	0.000000	T	0.22126	0.0533	N	0.03071	-0.42	0.80722	D	1	D;D	0.60575	0.988;0.988	P;D	0.70935	0.893;0.971	T	0.43196	-0.9406	10	0.21540	T	0.41	.	16.7349	0.85444	0.0:0.0:1.0:0.0	.	17;19	B1AMR4;O43307	.;ARHG9_HUMAN	Y	19;17	ENSP00000253401:H19Y;ENSP00000364012:H17Y	ENSP00000253401:H19Y	H	-	1	0	ARHGEF9	62861271	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.449000	0.97603	2.262000	0.75019	0.482000	0.46254	CAC		0.512	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			3	38	0	0	0	0.009096	0	3	38				
OGT	8473	broad.mit.edu	37	X	70775057	70775057	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chrX:70775057T>A	ENST00000373719.3	+	7	963	c.746T>A	c.(745-747)cTt>cAt	p.L249H	OGT_ENST00000373701.3_Missense_Mutation_p.L239H	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	249					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCAGCTTATCTTCGTGCCCTA	0.458																																							uc004eaa.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(745-747)CTT>CAT		O-linked GlcNAc transferase isoform 1							92.0	67.0	76.0					X																	70775057		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70775057T>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.746T>A	X.37:g.70775057T>A	ENSP00000362824:p.Leu249His					BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.L239H|OGT_uc004eac.2_Missense_Mutation_p.L110H|OGT_uc004ead.2_Intron	p.L249H	NM_181672	NP_858058	O15294	OGT1_HUMAN			7	963	+	Renal(35;0.156)		249			TPR 6.		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.746T>A	CCDS14414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.80|19.80	3.894274|3.894274	0.72639|0.72639	.|.	.|.	ENSG00000147162|ENSG00000147162	ENST00000455587|ENST00000373719;ENST00000373701	.|T;T	.|0.63096	.|-0.02;-0.02	5.05|5.05	5.05|5.05	0.67936|0.67936	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67795|0.67795	0.2931|0.2931	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.994	T|T	0.69266|0.69266	-0.5190|-0.5190	5|10	.|0.45353	.|T	.|0.12	-8.6321|-8.6321	13.9636|13.9636	0.64196|0.64196	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|123;239;249	.|Q548W1;O15294-3;O15294	.|.;.;OGT1_HUMAN	I|H	209|249;239	.|ENSP00000362824:L249H;ENSP00000362805:L239H	.|ENSP00000362805:L239H	F|L	+|+	1|2	0|0	OGT|OGT	70691782|70691782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.867000|7.867000	0.87062|0.87062	1.872000|1.872000	0.54250|0.54250	0.486000|0.486000	0.48141|0.48141	TTC|CTT		0.458	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		3	16	0	0	0	0.004672	0	3	16				
LRRIQ1	84125	broad.mit.edu	37	12	85449409	85449409	+	Frame_Shift_Del	DEL	T	T	-			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr12:85449409delT	ENST00000393217.2	+	8	899	c.838delT	c.(838-840)ttafs	p.L280fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	280	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAATTCTTTGTTAAAACAGCA	0.274																																							uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(838-840)TTAfs		leucine-rich repeats and IQ motif containing 1							24.0	28.0	27.0					12																	85449409		2170	4272	6442	SO:0001589	frameshift_variant	84125							g.chr12:85449409delT	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.838delT	12.37:g.85449409delT	ENSP00000376910:p.Leu280fs					LRRIQ1_uc001tab.1_Frame_Shift_Del_p.L280fs|LRRIQ1_uc001taa.1_Frame_Shift_Del_p.L255fs	p.L280fs	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	949	+			280			Glu-rich.		Q567P4|Q9BS17|Q9HA36	Frame_Shift_Del	DEL	ENST00000393217.2	37	c.838delT	CCDS41816.1																																																																																				0.274	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		7	21	NA	NA	NA	NA	NA	7	21	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73732157	73732158	+	Frame_Shift_Del	DEL	GT	GT	-	rs121912463		TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr17:73732157_73732158delGT	ENST00000200181.3	+	14	1870_1871	c.1683_1684delGT	c.(1681-1686)cagtgtfs	p.C562fs	ITGB4_ENST00000449880.2_Frame_Shift_Del_p.C562fs|ITGB4_ENST00000339591.3_Frame_Shift_Del_p.C562fs|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.C562fs|ITGB4_ENST00000579662.1_Frame_Shift_Del_p.C562fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	562	Cysteine-rich tandem repeats.		C -> R (in EB-PA; mild form). {ECO:0000269|PubMed:9792864}.		amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCATGGGCCAGTGTGTGTGTGA	0.604																																							uc002jpg.2		NA																	0				lung(4)	4	GRCh37	CM981091	ITGB4	M	rs121912463	c.(1681-1686)CAGTGTfs		integrin beta 4 isoform 1 precursor																																				SO:0001589	frameshift_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73732157_73732158delGT		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1683_1684delGT	17.37:g.73732165_73732166delGT	ENSP00000200181:p.Cys562fs					ITGB4_uc002jph.2_Frame_Shift_Del_p.Q561fs|ITGB4_uc010dgo.2_Frame_Shift_Del_p.Q561fs|ITGB4_uc002jpi.3_Frame_Shift_Del_p.Q561fs|ITGB4_uc010dgp.1_Frame_Shift_Del_p.Q561fs|ITGB4_uc002jpj.2_Frame_Shift_Del_p.Q561fs|ITGB4_uc010wsh.1_Frame_Shift_Del_p.Q116fs	p.Q561fs	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		14	1870_1871	+	all_cancers(13;1.5e-07)		561_562		C -> R (in EB-PA; mild form).	III.|Extracellular (Potential).|Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Frame_Shift_Del	DEL	ENST00000200181.3	37	c.1683_1684delGT	CCDS11727.1																																																																																				0.604	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			7	260	NA	NA	NA	NA	NA	7	260	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-	rs139294990		TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)catfs	p.H565fs	ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	0										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411																																							uc002uub.2		NA																	0				ovary(4)|skin(1)	5						c.(1693-1695)CATfs		ankyrin repeat domain 44																																				SO:0001589	frameshift_variant	91526						protein binding	g.chr2:197943383_197943384delTG	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000409153.1:c.1693_1694delCA	2.37:g.197943393_197943394delTG	ENSP00000387141:p.His565fs					ANKRD44_uc002utz.3_Intron|ANKRD44_uc002uua.1_Intron|ANKRD44_uc010zgw.1_Frame_Shift_Del_p.H493fs	p.H565fs	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		16	1860_1861	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Del	DEL	ENST00000409153.1	37	c.1693_1694delCA																																																																																					0.411	ANKRD44-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335114.3	NM_153697		4	6	NA	NA	NA	NA	NA	4	6	---	---	---	---
GLT8D1	55830	broad.mit.edu	37	3	52730605	52730609	+	Frame_Shift_Del	DEL	CCAAA	CCAAA	-	rs547679854		TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	CCAAA	CCAAA	-	-	CCAAA	CCAAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr3:52730605_52730609delCCAAA	ENST00000407584.3	-	6	1246_1250	c.396_400delTTTGG	c.(394-402)cttttggaafs	p.LE133fs	GLT8D1_ENST00000478968.2_Frame_Shift_Del_p.LE133fs|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000266014.5_Frame_Shift_Del_p.LE133fs|GLT8D1_ENST00000394783.3_Frame_Shift_Del_p.LE133fs|GLT8D1_ENST00000491606.1_Frame_Shift_Del_p.LE133fs	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	133						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACTTTTCCTTCCAAAAGTTTAGGGT	0.39																																							uc003dfi.3		NA																	0					0						c.(394-402)CTTTTGGAAfs		glycosyltransferase 8 domain containing 1																																				SO:0001589	frameshift_variant	55830					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups	g.chr3:52730605_52730609delCCAAA	AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"""Glycosyltransferase family 8 domain containing"""	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.396_400delTTTGG	3.37:g.52730605_52730609delCCAAA	ENSP00000385730:p.Leu133fs					GLT8D1_uc003dfj.2_Frame_Shift_Del_p.L132fs|GLT8D1_uc003dfk.2_Frame_Shift_Del_p.L132fs|GLT8D1_uc003dfl.2_Frame_Shift_Del_p.L132fs|GLT8D1_uc003dfm.2_Frame_Shift_Del_p.L132fs|GLT8D1_uc003dfn.2_Frame_Shift_Del_p.L132fs|GLT8D1_uc003dfo.1_Frame_Shift_Del_p.L132fs	p.L132fs	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	5	535_539	-			132_134			Lumenal (Potential).		Q7Z4D1|Q8N2J6|Q9P0I5	Frame_Shift_Del	DEL	ENST00000407584.3	37	c.396_400delTTTGG	CCDS2862.1																																																																																				0.390	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352065.3	NM_152932		7	30	NA	NA	NA	NA	NA	7	30	---	---	---	---
WWC2	80014	broad.mit.edu	37	4	184182555	184182555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr4:184182555delT	ENST00000403733.3	+	11	1978	c.1779delT	c.(1777-1779)catfs	p.H593fs	WWC2_ENST00000378925.3_Frame_Shift_Del_p.H495fs|WWC2_ENST00000513834.1_Intron|WWC2_ENST00000504005.1_Frame_Shift_Del_p.H275fs|WWC2_ENST00000448232.2_Frame_Shift_Del_p.H593fs	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	593					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TGAGTAGCCATTTTGCAGATA	0.448																																							uc010irx.2		NA																	0				ovary(2)|lung(1)	3						c.(1777-1779)CATfs		WW and C2 domain containing 2							54.0	45.0	48.0					4																	184182555		2203	4300	6503	SO:0001589	frameshift_variant	80014							g.chr4:184182555delT	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1779delT	4.37:g.184182555delT	ENSP00000384222:p.His593fs					WWC2_uc003ivk.3_Frame_Shift_Del_p.H388fs|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Frame_Shift_Del_p.H275fs|WWC2_uc003ivn.3_Intron	p.H593fs	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	11	1961	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	593					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Frame_Shift_Del	DEL	ENST00000403733.3	37	c.1779delT	CCDS34109.2																																																																																				0.448	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17611606	17611606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr8:17611606delT	ENST00000262102.6	-	2	1935	c.1711delA	c.(1711-1713)attfs	p.I571fs	MTUS1_ENST00000381869.3_Frame_Shift_Del_p.I571fs|MTUS1_ENST00000519263.1_Frame_Shift_Del_p.I571fs|MTUS1_ENST00000381862.3_Frame_Shift_Del_p.I571fs	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	571					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTCTTGTTAATTAGAATTTCT	0.398																																							uc003wxv.2		NA																	0				ovary(1)|skin(1)	2						c.(1711-1713)ATTfs		mitochondrial tumor suppressor 1 isoform 1							284.0	255.0	264.0					8																	17611606		1915	4125	6040	SO:0001589	frameshift_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611606delT	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1711delA	8.37:g.17611606delT	ENSP00000262102:p.Ile571fs					MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Frame_Shift_Del_p.I571fs|MTUS1_uc010lsz.2_Frame_Shift_Del_p.I571fs	p.I571fs	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2185	-			571					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Frame_Shift_Del	DEL	ENST00000262102.6	37	c.1711delA	CCDS43717.1																																																																																				0.398	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		42	198	NA	NA	NA	NA	NA	42	198	---	---	---	---
ZNF367	195828	broad.mit.edu	37	9	99180258	99180259	+	In_Frame_Ins	INS	-	-	GGC	rs553637829	byFrequency	TCGA-69-7761-01A-11D-2167-08	TCGA-69-7761-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b3986bd8-e8b0-4bcf-b850-abcbac67485f	e5f8e6d1-e696-4867-9857-6ef6b9a05262	g.chr9:99180258_99180259insGGC	ENST00000375256.4	-	1	352_353	c.56_57insGCC	c.(55-57)ccc>ccGCCc	p.19_19P>PP		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	19	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				AGAAGATGACGggcggcggcgg	0.752														27	0.00539137	0.0008	0.0029	5008	,	,		10525	0.0		0.0219	False		,,,				2504	0.002						uc004awf.2		NA																	0					0						c.(55-57)CCC>CCGCCC		zinc finger protein 367																																				SO:0001652	inframe_insertion	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99180258_99180259insGGC	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.54_56dupGCC	9.37:g.99180265_99180267dupGGC	ENSP00000364405:p.Pro19dup					ZNF367_uc004awg.2_In_Frame_Ins_p.19_19P>PP	p.19_19P>PP	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN			1	411_412	-		Acute lymphoblastic leukemia(62;0.0167)	19			Pro-rich.		Q6Q7C8	In_Frame_Ins	INS	ENST00000375256.4	37	c.56_57insGCC	CCDS6718.1																																																																																				0.752	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			6	7	NA	NA	NA	NA	NA	6	7	---	---	---	---
