#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_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
ZNF557	79230	broad.mit.edu	37	19	7075115	7075115	+	Splice_Site	SNP	C	C	T	rs199839153		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:7075115C>T	ENST00000439035.2	+	3	270	c.30C>T	c.(28-30)gcC>gcT	p.A10A	ZNF557_ENST00000414706.1_Splice_Site_p.A10A|ZNF557_ENST00000252840.6_Splice_Site_p.A10A			Q8N988	ZN557_HUMAN	zinc finger protein 557	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CCCCAACTGCCGGTGAGTCAT	0.642																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.e3+1		zinc finger protein 557		T	,,	0,4406		0,0,2203	54.0	59.0	57.0		30,30,30	-1.3	0.0	19		57	3,8597		0,3,4297	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	ZNF557	NM_001044387.1,NM_001044388.1,NM_024341.2	,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,	10/431,10/424,10/431	7075115	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7075115C>T	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.31+1C>T	19.37:g.7075115C>T						ZNF557_ENST00000252840.6_Splice_Site_p.A10_splice|ZNF557_ENST00000439035.2_Splice_Site_p.A10_splice	p.A10_splice	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	3	503	+			10					Q6PEJ3|Q9BTZ1	Splice_Site	SNP	ENST00000439035.2	37	c.31_splice	CCDS45945.1																																																																																				0.642	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341	Silent	9	126	0	0	0	0.411799	0	9	126				
ECSIT	51295	broad.mit.edu	37	19	11624790	11624790	+	Missense_Mutation	SNP	G	G	A	rs557443574		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:11624790G>A	ENST00000270517.7	-	3	478	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ECSIT_ENST00000252440.7_Missense_Mutation_p.R115C|ECSIT_ENST00000591104.1_Missense_Mutation_p.R115C|RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000417981.2_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	115					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R115C(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CGCATCTTGCGCAGGGCCAGG	0.592																																						ENST00000270517.7																			1	Substitution - Missense(1)	p.R115C(1)	prostate(1)	kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(343-345)Cgc>Tgc		ECSIT signalling integrator							126.0	89.0	101.0					19																	11624790		2203	4300	6503	SO:0001583	missense	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11624790G>A	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.343C>T	19.37:g.11624790G>A	ENSP00000270517:p.Arg115Cys					ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.R115C|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000591104.1_Missense_Mutation_p.R115C	p.R115C	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			3	478	-			115					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	c.343C>T	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.061550	0.76187	.	.	ENSG00000130159	ENST00000270517;ENST00000252440	T;T	0.79247	-1.25;-1.25	5.71	4.66	0.58398	.	0.106546	0.64402	D	0.000010	D	0.86272	0.5893	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.949	D	0.87543	0.2460	10	0.87932	D	0	-21.7571	12.1697	0.54150	0.0:0.0:0.5759:0.4241	.	115;115	Q9BQ95-2;Q9BQ95	.;ECSIT_HUMAN	C	115	ENSP00000270517:R115C;ENSP00000252440:R115C	ENSP00000252440:R115C	R	-	1	0	ECSIT	11485790	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.205000	0.32308	1.377000	0.46286	0.543000	0.68304	CGC		0.592	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		6	111	0	0	0	0.307466	0	6	111				
KCNH5	27133	broad.mit.edu	37	14	63175050	63175050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:63175050G>A	ENST00000322893.7	-	11	2411	c.2143C>T	c.(2143-2145)Cag>Tag	p.Q715*	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	715	Calmodulin-binding. {ECO:0000255}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.Q715*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCCTTCTGCTGCTTGAACTTC	0.562																																						ENST00000322893.7																			1	Substitution - Nonsense(1)	p.Q715*(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2143-2145)Cag>Tag		potassium voltage-gated channel, subfamily H (eag-related), member 5							119.0	119.0	119.0					14																	63175050		2203	4300	6503	SO:0001587	stop_gained	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63175050G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2143C>T	14.37:g.63175050G>A	ENSP00000321427:p.Gln715*					KCNH5_ENST00000420622.2_3'UTR	p.Q715*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2411	-			715			Calmodulin-binding (Potential).		C9JP98	Nonsense_Mutation	SNP	ENST00000322893.7	37	c.2143C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	39	7.728019	0.98456	.	.	ENSG00000140015	ENST00000322893	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	19.4558	0.94889	0.0:0.0:1.0:0.0	.	.	.	.	X	715	.	ENSP00000321427:Q715X	Q	-	1	0	KCNH5	62244803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.611000	0.88343	0.655000	0.94253	CAG		0.562	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		14	208	0	0	0	0.457914	0	14	208				
MUC16	94025	broad.mit.edu	37	19	8976368	8976368	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:8976368C>A	ENST00000397910.4	-	75	42663	c.42460G>T	c.(42460-42462)Ggc>Tgc	p.G14154C	MUC16_ENST00000380951.5_Missense_Mutation_p.G795C|MUC16_ENST00000596956.1_Intron	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14185	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G14154C(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCCGGGGCCCACAGGGTCA	0.597																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.G14154C(2)	prostate(1)|lung(1)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42460-42462)Ggc>Tgc		mucin 16, cell surface associated							35.0	35.0	35.0					19																	8976368		1984	4166	6150	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8976368C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42460G>T	19.37:g.8976368C>A	ENSP00000381008:p.Gly14154Cys					MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.G795C	p.G14154C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			75	42663	-			14185	Missing (in Ref. 3; AAK74120).		SEA 14.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42460G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.13|13.13	2.146313|2.146313	0.37923|0.37923	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.49139|.	0.79;0.79|.	4.07|4.07	-2.23|-2.23	0.06930|0.06930	SEA (1);|.	1.471060|.	0.04491|.	N|.	0.379457|.	T|T	0.45955|0.45955	0.1368|0.1368	M|M	0.66939|0.66939	2.045|2.045	.|.	.|.	.|.	D;D|.	0.89917|.	0.999;1.0|.	P;D|.	0.91635|.	0.905;0.999|.	T|T	0.52465|0.52465	-0.8572|-0.8572	8|4	.|.	.|.	.|.	.|.	4.2972|4.2972	0.10908|0.10908	0.0:0.3468:0.3439:0.3092|0.0:0.3468:0.3439:0.3092	.|.	21799;14154|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	C|C	14154;795|976	ENSP00000381008:G14154C;ENSP00000370338:G795C|.	.|.	G|W	-|-	1|3	0|0	MUC16|MUC16	8837368|8837368	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-1.115000|-1.115000	0.03289|0.03289	-0.117000|-0.117000	0.11872|0.11872	-0.223000|-0.223000	0.12442|0.12442	GGC|TGG		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	58	1	0	1.08611e-07	0.387290	1.20165e-07	10	58				
SERPINA10	51156	broad.mit.edu	37	14	94756667	94756667	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:94756667T>C	ENST00000393096.1	-	2	729	c.264A>G	c.(262-264)cgA>cgG	p.R88R	SERPINA10_ENST00000554173.1_Silent_p.R88R|SERPINA10_ENST00000261994.4_Silent_p.R88R|SERPINA10_ENST00000554723.1_Silent_p.R128R	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	88					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R88R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGAGATCTTTCGCAGCAGGC	0.567																																						ENST00000554723.1																			1	Substitution - coding silent(1)	p.R88R(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(382-384)cgA>cgG		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							77.0	70.0	73.0					14																	94756667		2203	4300	6503	SO:0001819	synonymous_variant	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756667T>C	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.264A>G	14.37:g.94756667T>C						SERPINA10_ENST00000554173.1_Silent_p.R88R|SERPINA10_ENST00000261994.4_Silent_p.R88R|SERPINA10_ENST00000393096.1_Silent_p.R88R	p.R128R			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	802	-		all_cancers(154;0.105)	88					A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	c.384A>G	CCDS9923.1																																																																																				0.567	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		14	60	0	0	0	0.435327	0	14	60				
PXDNL	137902	broad.mit.edu	37	8	52321017	52321017	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:52321017C>T	ENST00000356297.4	-	17	3267	c.3167G>A	c.(3166-3168)gGc>gAc	p.G1056D	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1056D	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1056					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TAATGTGTGGCCAAATCTAAA	0.493																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3166-3168)gGc>gAc		peroxidasin homolog (Drosophila)-like							44.0	47.0	46.0					8																	52321017		1943	4154	6097	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321017C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3167G>A	8.37:g.52321017C>T	ENSP00000348645:p.Gly1056Asp					PXDNL_ENST00000543296.1_Missense_Mutation_p.G1056D	p.G1056D	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	3267	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1056					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3167G>A	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.94|13.94	2.385883|2.385883	0.42308|0.42308	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|T;T	.|0.77750	.|-1.12;-1.12	3.82|3.82	3.82|3.82	0.43975|0.43975	.|.	.|0.000000	.|0.53938	.|D	.|0.000058	D|D	0.92440|0.92440	0.7600|0.7600	H|H	0.99042|0.99042	4.41|4.41	0.47621|0.47621	D|D	0.999471|0.999471	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.94805|0.94805	0.7974|0.7974	5|10	.|0.87932	.|D	.|0	.|.	13.1684|13.1684	0.59583|0.59583	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1056	.|A1KZ92	.|PXDNL_HUMAN	T|D	175|1056	.|ENSP00000348645:G1056D;ENSP00000444865:G1056D	.|ENSP00000348645:G1056D	A|G	-|-	1|2	0|0	PXDNL|PXDNL	52483570|52483570	0.998000|0.998000	0.40836|0.40836	0.150000|0.150000	0.22450|0.22450	0.018000|0.018000	0.09664|0.09664	3.946000|3.946000	0.56644|0.56644	1.653000|1.653000	0.50694|0.50694	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.493	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		4	40	0	0	0	0.150653	0	4	40				
ANO9	338440	broad.mit.edu	37	11	420567	420567	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:420567G>A	ENST00000332826.6	-	19	1766	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	561					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GAGCAGCGGCGCCAGCGGGAA	0.687																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1681-1683)gCg>gTg		anoctamin 9							23.0	19.0	20.0					11																	420567		2189	4274	6463	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:420567G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1682C>T	11.37:g.420567G>A	ENSP00000332788:p.Ala561Val						p.A561V	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			19	1766	-			561					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1682C>T	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	G	35	5.538612	0.96474	.	.	ENSG00000185101	ENST00000332826	T	0.71103	-0.54	4.05	4.05	0.47172	.	0.460361	0.21210	N	0.078334	D	0.87273	0.6136	M	0.92122	3.275	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.70716	0.906;0.97	D	0.90917	0.4780	10	0.72032	D	0.01	.	16.6508	0.85188	0.0:0.0:1.0:0.0	.	262;561	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	V	561	ENSP00000332788:A561V	ENSP00000332788:A561V	A	-	2	0	ANO9	410567	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.821000	0.86641	1.980000	0.57719	0.456000	0.33151	GCG		0.687	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		5	42	0	0	0	0.248553	0	5	42				
ITGA11	22801	broad.mit.edu	37	15	68649516	68649516	+	Missense_Mutation	SNP	C	C	T	rs189643766		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:68649516C>T	ENST00000315757.7	-	7	808	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	ITGA11_ENST00000423218.2_Missense_Mutation_p.R241Q|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	241	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.R241Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						AAATGCCGTCCGGGTCTCTGT	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19272	0.0		0.0	False		,,,				2504	0.0					ENST00000423218.2																			1	Substitution - Missense(1)	p.R241Q(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(721-723)cGg>cAg		integrin, alpha 11	Tirofiban(DB00775)	C	GLN/ARG	2,3788		0,2,1893	82.0	79.0	80.0		722	5.1	1.0	15		80	0,8252		0,0,4126	yes	missense	ITGA11	NM_001004439.1	43	0,2,6019	TT,TC,CC		0.0,0.0528,0.0166	probably-damaging	241/1189	68649516	2,12040	1895	4126	6021	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68649516C>T	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.722G>A	15.37:g.68649516C>T	ENSP00000327290:p.Arg241Gln					ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Missense_Mutation_p.R241Q	p.R241Q			Q9UKX5	ITA11_HUMAN			7	817	-			241			VWFA.		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.722G>A	CCDS45291.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	22.2	4.258498	0.80246	5.28E-4	0.0	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.55413	0.52;0.52	5.09	5.09	0.68999	von Willebrand factor, type A (3);	0.108034	0.64402	D	0.000007	T	0.57917	0.2086	L	0.47716	1.5	0.34675	D	0.724081	D;D	0.89917	0.999;1.0	D;D	0.71414	0.962;0.973	T	0.68409	-0.5416	10	0.32370	T	0.25	.	17.5009	0.87731	0.0:1.0:0.0:0.0	.	241;241	A8K8T0;Q9UKX5	.;ITA11_HUMAN	Q	241	ENSP00000327290:R241Q;ENSP00000403392:R241Q	ENSP00000327290:R241Q	R	-	2	0	ITGA11	66436570	0.949000	0.32298	1.000000	0.80357	0.977000	0.68977	2.429000	0.44758	2.368000	0.80403	0.561000	0.74099	CGG		0.413	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		23	82	0	0	0	0.681144	0	23	82				
TBX18	9096	broad.mit.edu	37	6	85446602	85446602	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:85446602G>A	ENST00000369663.5	-	8	1962	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	542					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTCAGGACTGGCAGCCAGTTT	0.502																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1624-1626)gCc>gTc		T-box 18							79.0	92.0	88.0					6																	85446602		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446602G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1625C>T	6.37:g.85446602G>A	ENSP00000358677:p.Ala542Val					TBX18_ENST00000606784.1_Intron	p.A542V	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1962	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	542					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1625C>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260498	0.59431	.	.	ENSG00000112837	ENST00000369663	D	0.89810	-2.57	5.26	5.26	0.73747	.	0.341113	0.31884	N	0.006904	T	0.78149	0.4238	L	0.32530	0.975	0.54753	D	0.999981	B	0.32203	0.36	B	0.25614	0.062	T	0.79075	-0.1952	10	0.45353	T	0.12	.	18.8443	0.92198	0.0:0.0:1.0:0.0	.	542	O95935	TBX18_HUMAN	V	542	ENSP00000358677:A542V	ENSP00000358677:A542V	A	-	2	0	TBX18	85503321	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.044000	0.93805	2.453000	0.82957	0.585000	0.79938	GCC		0.502	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		6	225	0	0	0	0.248553	0	6	225				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	109	0	0	0	0.278610	0	4	109				
TIPARP	25976	broad.mit.edu	37	3	156395883	156395883	+	Nonsense_Mutation	SNP	C	C	T	rs569197742		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:156395883C>T	ENST00000461166.1	+	2	985	c.397C>T	c.(397-399)Cga>Tga	p.R133*	TIPARP_ENST00000486483.1_Nonsense_Mutation_p.R133*|TIPARP_ENST00000295924.7_Nonsense_Mutation_p.R133*|TIPARP_ENST00000542783.1_Nonsense_Mutation_p.R133*	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	133					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R133*(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCTCCAGAACGAGTGGTTCC	0.498																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			1	Substitution - Nonsense(1)	p.R133*(1)	large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(397-399)Cga>Tga		TCDD-inducible poly(ADP-ribose) polymerase							101.0	102.0	102.0					3																	156395883		2203	4300	6503	SO:0001587	stop_gained	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156395883C>T	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.397C>T	3.37:g.156395883C>T	ENSP00000420612:p.Arg133*					TIPARP_ENST00000542783.1_Nonsense_Mutation_p.R133*|TIPARP_ENST00000486483.1_Nonsense_Mutation_p.R133*|TIPARP_ENST00000295924.7_Nonsense_Mutation_p.R133*	p.R133*	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		2	985	+			133					D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Nonsense_Mutation	SNP	ENST00000461166.1	37	c.397C>T	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	C	41	8.889236	0.98992	.	.	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	.	.	.	5.11	4.22	0.49857	.	0.501234	0.20537	N	0.090395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	14.5068	0.67758	0.1481:0.8519:0.0:0.0	.	.	.	.	X	133	.	ENSP00000295924:R133X	R	+	1	2	TIPARP	157878577	1.000000	0.71417	0.951000	0.38953	0.819000	0.46315	4.550000	0.60733	1.136000	0.42199	0.563000	0.77884	CGA		0.498	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		4	158	0	0	0	0.150653	0	4	158				
SLC5A10	125206	broad.mit.edu	37	17	18872377	18872377	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:18872377G>A	ENST00000395645.3	+	6	484	c.466G>A	c.(466-468)Gcg>Acg	p.A156T	SLC5A10_ENST00000417251.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395642.1_Missense_Mutation_p.A100T|SLC5A10_ENST00000317977.6_Missense_Mutation_p.A100T|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A156T	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	156					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A156T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GGACCTGTACGCGGGGGCTCT	0.612																																						ENST00000317977.6																			1	Substitution - Missense(1)	p.A156T(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(298-300)Gcg>Acg		solute carrier family 5 (sodium/sugar cotransporter), member 10							123.0	97.0	106.0					17																	18872377		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18872377G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.466G>A	17.37:g.18872377G>A	ENSP00000379007:p.Ala156Thr					SLC5A10_ENST00000395643.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395645.3_Missense_Mutation_p.A156T|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395642.1_Missense_Mutation_p.A100T|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A156T|FAM83G_ENST00000388995.6_3'UTR	p.A100T			A0PJK1	SC5AA_HUMAN			6	869	+			156					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.298G>A	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825416	0.50739	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.92397	-3.03;-2.49;-3.03;-2.49;-2.49;-2.67	4.82	2.63	0.31362	.	0.057677	0.64402	D	0.000001	D	0.91576	0.7339	M	0.83774	2.66	0.80722	D	1	P;P;P;P;D	0.56521	0.882;0.857;0.882;0.857;0.976	B;B;B;B;B	0.43508	0.418;0.294;0.418;0.294;0.422	D	0.91139	0.4944	10	0.52906	T	0.07	.	11.5417	0.50669	0.0:0.0:0.4576:0.5424	.	156;156;156;156;100	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	T	100;156;100;156;156;156	ENSP00000324346:A100T;ENSP00000379008:A156T;ENSP00000379004:A100T;ENSP00000401875:A156T;ENSP00000379007:A156T;ENSP00000379005:A156T	ENSP00000324346:A100T	A	+	1	0	SLC5A10	18813102	1.000000	0.71417	0.443000	0.26883	0.157000	0.22087	5.242000	0.65389	1.150000	0.42419	0.462000	0.41574	GCG		0.612	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		9	67	0	0	0	0.335167	0	9	67				
CYTH3	9265	broad.mit.edu	37	7	6210514	6210514	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:6210514C>T	ENST00000350796.3	-	8	794	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.A135T	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	220					establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CGGTTCATGGCGATGAACCGT	0.637																																						ENST00000350796.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						c.(658-660)Gcc>Acc		cytohesin 3							144.0	103.0	117.0					7																	6210514		2203	4300	6503	SO:0001583	missense	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6210514C>T	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.658G>A	7.37:g.6210514C>T	ENSP00000297044:p.Ala220Thr					CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.A135T	p.A220T	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN			8	794	-			220					A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	c.658G>A	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693626	0.48202	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.53857	0.6;0.6	5.48	1.47	0.22746	.	0.141598	0.64402	N	0.000003	T	0.32852	0.0843	N	0.25890	0.77	0.27520	N	0.951426	B;B	0.10296	0.001;0.003	B;B	0.11329	0.006;0.001	T	0.12630	-1.0540	10	0.33940	T	0.23	.	5.3676	0.16123	0.5687:0.0974:0.0:0.3338	.	135;220	B7Z2V9;O43739-2	.;.	T	220;135	ENSP00000297044:A220T;ENSP00000379967:A135T	ENSP00000297044:A220T	A	-	1	0	CYTH3	6177039	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	2.182000	0.42556	0.357000	0.24183	-0.302000	0.09304	GCC		0.637	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		7	32	0	0	0	0.278610	0	7	32				
GBP3	2635	broad.mit.edu	37	1	89480252	89480252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:89480252G>A	ENST00000370481.4	-	4	626	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	GBP3_ENST00000475853.2_5'Flank	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	184	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.Q136*(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ATAGCCTGCTGGTTGATGGTT	0.512																																						ENST00000370481.4																			1	Substitution - Nonsense(1)	p.Q136*(1)	prostate(1)	breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(406-408)Cag>Tag		guanylate binding protein 3							207.0	173.0	185.0					1																	89480252		2203	4300	6503	SO:0001587	stop_gained	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89480252G>A	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.406C>T	1.37:g.89480252G>A	ENSP00000359512:p.Gln136*						p.Q136*	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	4	626	-		Lung NSC(277;0.123)	136					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Nonsense_Mutation	SNP	ENST00000370481.4	37	c.406C>T	CCDS717.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767640	0.90020	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	.	.	.	3.98	3.05	0.35203	.	0.129601	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.0773	0.48038	0.0:0.0:0.8141:0.1859	.	.	.	.	X	136	.	ENSP00000235878:Q136X	Q	-	1	0	GBP3	89252840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.283000	0.43470	0.997000	0.38969	0.609000	0.83330	CAG		0.512	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		24	158	0	0	0	0.693898	0	24	158				
MFAP5	8076	broad.mit.edu	37	12	8804283	8804283	+	Silent	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:8804283G>T	ENST00000359478.2	-	7	409	c.222C>A	c.(220-222)tcC>tcA	p.S74S	MFAP5_ENST00000538107.1_5'Flank|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000540087.1_Intron	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	74					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TTTCACTGAGGGAGGCTGAAA	0.433																																						ENST00000359478.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13						c.(220-222)tcC>tcA		microfibrillar associated protein 5							142.0	134.0	137.0					12																	8804283		2203	4300	6503	SO:0001819	synonymous_variant	8076					microfibril	extracellular matrix structural constituent	g.chr12:8804283G>T	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.222C>A	12.37:g.8804283G>T						MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000535336.1_Intron	p.S74S	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN			7	409	-	Lung SC(5;0.184)		74					B0AZL6|D3DUV1|Q7Z490	Silent	SNP	ENST00000359478.2	37	c.222C>A	CCDS8595.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.443480	0.01089	.	.	ENSG00000197614	ENST00000535411	.	.	.	4.33	-8.66	0.00866	.	.	.	.	.	T	0.17238	0.0414	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17561	-1.0365	4	.	.	.	3.0584	4.1641	0.10298	0.0995:0.1391:0.209:0.5525	.	.	.	.	H	64	.	.	P	-	2	0	MFAP5	8695550	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-3.078000	0.00615	-1.983000	0.00987	-1.058000	0.02302	CCC		0.433	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		8	167	1	0	1.58986e-06	0.361761	1.71343e-06	8	167				
NUP188	23511	broad.mit.edu	37	9	131768055	131768055	+	Splice_Site	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:131768055G>T	ENST00000372577.2	+	41	4890	c.4869G>T	c.(4867-4869)gaG>gaT	p.E1623D	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1623					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.E1623D(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCTTGGAGAGGTAAGTTGGT	0.597																																						ENST00000372577.2																			1	Substitution - Missense(1)	p.E1623D(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.e41+1		nucleoporin 188kDa							143.0	140.0	141.0					9																	131768055		2203	4300	6503	SO:0001630	splice_region_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131768055G>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4869+1G>T	9.37:g.131768055G>T							p.E1623_splice	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			41	4890	+			1623					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Splice_Site	SNP	ENST00000372577.2	37	c.4869_splice	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399202	0.83120	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.33438	1.41	5.02	4.13	0.48395	.	0.096036	0.64402	D	0.000001	T	0.47820	0.1466	L	0.57536	1.79	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.43376	-0.9395	10	0.52906	T	0.07	-33.0615	10.8037	0.46504	0.0876:0.0:0.9124:0.0	.	1623	Q5SRE5	NU188_HUMAN	D	1512;1623	ENSP00000361658:E1623D	ENSP00000349125:E1512D	E	+	3	2	NUP188	130807876	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.841000	0.55850	1.239000	0.43787	0.561000	0.74099	GAG		0.597	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		Missense_Mutation	18	296	1	0	3.32936e-07	0.539581	3.62569e-07	18	296				
INADL	10207	broad.mit.edu	37	1	62393501	62393501	+	Splice_Site	SNP	C	C	T	rs371868730		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:62393501C>T	ENST00000371158.2	+	27	3784	c.3670C>T	c.(3670-3672)Caa>Taa	p.Q1224*	INADL_ENST00000316485.6_Splice_Site_p.Q1224*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1224					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.Q1224*(1)|p.Q1224K(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTTTACCGACCGTGAGTGCCT	0.388																																						ENST00000371158.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.Q1224*(1)|p.Q1224K(1)	prostate(1)|lung(1)	breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.e27+1		InaD-like (Drosophila)							108.0	98.0	102.0					1																	62393501		2203	4300	6503	SO:0001630	splice_region_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62393501C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3670+1C>T	1.37:g.62393501C>T						INADL_ENST00000316485.6_Splice_Site_p.Q1224_splice	p.Q1224_splice	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			27	3784	+			1224					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Splice_Site	SNP	ENST00000371158.2	37	c.3670_splice	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	41	8.879051	0.98988	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513	.	.	.	4.45	-1.72	0.08107	.	0.299670	0.30528	N	0.009432	.	.	.	.	.	.	0.48452	D	0.999658	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0719	0.14611	0.4197:0.1848:0.3955:0.0	.	.	.	.	X	1224	.	ENSP00000326199:Q1224X	Q	+	1	0	INADL	62166089	0.919000	0.31177	0.638000	0.29380	0.004000	0.04260	-0.150000	0.10189	-0.186000	0.10533	-1.074000	0.02243	CAA		0.388	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	Nonsense_Mutation	5	47	0	0	0	0.184627	0	5	47				
SORBS3	10174	broad.mit.edu	37	8	22415644	22415644	+	Silent	SNP	C	C	T	rs376902116		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:22415644C>T	ENST00000240123.7	+	5	800	c.417C>T	c.(415-417)agC>agT	p.S139S	SORBS3_ENST00000523402.1_Silent_p.S139S	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	139	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GATCCCAGAGCGTTGACAGAC	0.512																																						ENST00000240123.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(415-417)agC>agT		sorbin and SH3 domain containing 3							119.0	122.0	121.0					8																	22415644		2203	4300	6503	SO:0001819	synonymous_variant	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22415644C>T		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.417C>T	8.37:g.22415644C>T						SORBS3_ENST00000523402.1_Silent_p.S139S	p.S139S	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	5	800	+		Prostate(55;0.0421)|Breast(100;0.102)	139			SoHo.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Silent	SNP	ENST00000240123.7	37	c.417C>T	CCDS6031.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.776401	0.31411	.	.	ENSG00000120896	ENST00000520563;ENST00000524057	.	.	.	5.02	0.0758	0.14400	.	.	.	.	.	T	0.57213	0.2038	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50083	-0.8869	4	.	.	.	-12.5574	9.7381	0.40401	0.0:0.5368:0.0:0.4632	.	.	.	.	C	94;76	.	.	R	+	1	0	SORBS3	22471589	0.785000	0.28726	0.994000	0.49952	0.980000	0.70556	-0.352000	0.07701	-0.170000	0.10816	-0.361000	0.07541	CGT		0.512	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		9	180	0	0	0	0.335167	0	9	180				
KIAA0922	23240	broad.mit.edu	37	4	154502668	154502668	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:154502668A>G	ENST00000409663.3	+	9	900	c.848A>G	c.(847-849)cAt>cGt	p.H283R	KIAA0922_ENST00000409959.3_Missense_Mutation_p.H283R|KIAA0922_ENST00000440693.1_Missense_Mutation_p.H283R	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	283						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTGTTAGATCATCTCTCTATT	0.323																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(847-849)cAt>cGt		KIAA0922							116.0	113.0	114.0					4																	154502668		2203	4299	6502	SO:0001583	missense	23240					integral to membrane		g.chr4:154502668A>G	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.848A>G	4.37:g.154502668A>G	ENSP00000386574:p.His283Arg					KIAA0922_ENST00000440693.1_Missense_Mutation_p.H283R|KIAA0922_ENST00000409663.3_Missense_Mutation_p.H283R	p.H283R	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			9	897	+	all_hematologic(180;0.093)	Renal(120;0.118)	283					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.848A>G	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072827	0.55646	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19105	2.43;2.17;2.43;2.18	5.86	5.86	0.93980	.	0.106595	0.64402	D	0.000005	T	0.20820	0.0501	N	0.24115	0.695	0.25279	N	0.989456	P;P;P	0.47762	0.873;0.9;0.839	P;P;B	0.48400	0.544;0.576;0.372	T	0.13361	-1.0512	10	0.22109	T	0.4	-24.5894	15.1308	0.72520	1.0:0.0:0.0:0.0	.	283;283;283	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	R	283;283;283;144	ENSP00000386574:H283R;ENSP00000409663:H283R;ENSP00000386787:H283R;ENSP00000240487:H144R	ENSP00000240487:H144R	H	+	2	0	KIAA0922	154722118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.895000	0.69814	2.367000	0.80283	0.528000	0.53228	CAT		0.323	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		4	112	0	0	0	0.184627	0	4	112				
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.C595Y(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1783-1785)tGt>tAt		nuclear factor, erythroid 2-like 3							61.0	58.0	59.0					7																	26225102		2203	4299	6502	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225102G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1784G>A	7.37:g.26225102G>A	ENSP00000056233:p.Cys595Tyr						p.C595Y	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2043	+			595					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1784G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483904	0.84854	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.92858	-3.12	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-5.5783	19.4639	0.94931	0.0:0.0:1.0:0.0	.	595	Q9Y4A8	NF2L3_HUMAN	Y	595;300	ENSP00000056233:C595Y	ENSP00000056233:C595Y	C	+	2	0	NFE2L3	26191627	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.984000	0.88150	2.703000	0.92315	0.591000	0.81541	TGT		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			4	73	0	0	0	0.150653	0	4	73				
PTRF	284119	broad.mit.edu	37	17	40557266	40557266	+	Silent	SNP	G	G	A	rs137932986		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:40557266G>A	ENST00000357037.5	-	2	1031	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.D204D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCACCGCCTCGTCCGACGAAA	0.672																																						ENST00000357037.5																			1	Substitution - coding silent(1)	p.D204D(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(610-612)gaC>gaT		polymerase I and transcript release factor							83.0	89.0	87.0					17																	40557266		2203	4300	6503	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557266G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.612C>T	17.37:g.40557266G>A							p.D204D	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1031	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	204						Silent	SNP	ENST00000357037.5	37	c.612C>T	CCDS11425.1																																																																																				0.672	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		10	259	0	0	0	0.500413	0	10	259				
LIG4	3981	broad.mit.edu	37	13	108861451	108861451	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:108861451C>T	ENST00000356922.4	-	2	2438	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	LIG4_ENST00000442234.1_Silent_p.K722K|LIG4_ENST00000405925.1_Silent_p.K722K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	722	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.K722K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GCCATGCAGGCTTGACAACAT	0.398								Non-homologous end-joining																														ENST00000356922.4																			1	Substitution - coding silent(1)	p.K722K(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2164-2166)aaG>aaA	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							74.0	70.0	72.0					13																	108861451		2203	4300	6503	SO:0001819	synonymous_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861451C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2166G>A	13.37:g.108861451C>T						LIG4_ENST00000442234.1_Silent_p.K722K|LIG4_ENST00000405925.1_Silent_p.K722K	p.K722K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2438	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		722			BRCT 1.		Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	c.2166G>A	CCDS9508.1																																																																																				0.398	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		11	124	0	0	0	0.361761	0	11	124				
TIGD2	166815	broad.mit.edu	37	4	90034328	90034328	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:90034328G>A	ENST00000317005.2	+	1	361	c.203G>A	c.(202-204)cGt>cAt	p.R68H	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	68	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R68H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		GTATCCAAACGTAAATCTATG	0.378																																						ENST00000317005.2																			1	Substitution - Missense(1)	p.R68H(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(202-204)cGt>cAt		tigger transposable element derived 2							102.0	98.0	99.0					4																	90034328		2203	4300	6503	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034328G>A	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.203G>A	4.37:g.90034328G>A	ENSP00000317170:p.Arg68His						p.R68H	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	361	+		Hepatocellular(203;0.114)	68			HTH CENPB-type.			Missense_Mutation	SNP	ENST00000317005.2	37	c.203G>A	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	g	13.64	2.298932	0.40694	.	.	ENSG00000180346	ENST00000317005	T	0.33438	1.41	3.77	2.92	0.33932	Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (1);	0.000000	0.42294	U	0.000726	T	0.53610	0.1807	M	0.85945	2.785	0.24802	N	0.992692	D	0.89917	1.0	D	0.79784	0.993	T	0.44528	-0.9322	10	0.72032	D	0.01	.	7.1921	0.25831	0.1267:0.0:0.8733:0.0	.	68	Q4W5G0	TIGD2_HUMAN	H	68	ENSP00000317170:R68H	ENSP00000317170:R68H	R	+	2	0	TIGD2	90253351	1.000000	0.71417	0.931000	0.37212	0.721000	0.41392	5.195000	0.65131	0.803000	0.34113	0.454000	0.30748	CGT		0.378	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		5	145	0	0	0	0.217242	0	5	145				
LRIT3	345193	broad.mit.edu	37	4	110791704	110791704	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:110791704G>C	ENST00000594814.1	+	4	1799	c.1799G>C	c.(1798-1800)tGt>tCt	p.C600S	LRIT3_ENST00000379920.3_Missense_Mutation_p.C555S|LRIT3_ENST00000327908.3_Missense_Mutation_p.C417S|LRIT3_ENST00000409621.2_Missense_Mutation_p.C417S	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	600					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCATTGATTTGTTTCTTGTTG	0.383																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(1249-1251)tGt>tCt		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							168.0	165.0	166.0					4																	110791704		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791704G>C	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1799G>C	4.37:g.110791704G>C	ENSP00000469759:p.Cys600Ser					LRIT3_ENST00000409621.2_Missense_Mutation_p.C417S|LRIT3_ENST00000594814.1_Missense_Mutation_p.C600S|LRIT3_ENST00000379920.3_Missense_Mutation_p.C555S	p.C417S			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	2014	+			555					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.1250G>C	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676622	0.29783	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.57273	0.41;0.62;0.41	5.37	2.05	0.26809	.	0.340574	0.35320	N	0.003295	T	0.40956	0.1138	L	0.36672	1.1	0.28045	N	0.933604	B;B	0.32467	0.097;0.372	B;B	0.27500	0.016;0.08	T	0.40117	-0.9580	10	0.62326	D	0.03	.	14.1288	0.65240	0.0:0.0:0.2016:0.7984	.	555;417	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	S	417;555;417	ENSP00000328222:C417S;ENSP00000369252:C555S;ENSP00000386734:C417S	ENSP00000328222:C417S	C	+	2	0	LRIT3	111011153	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	3.369000	0.52365	0.519000	0.28406	-0.169000	0.13324	TGT		0.383	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		7	101	0	0	0	0.278610	0	7	101				
SLC13A5	284111	broad.mit.edu	37	17	6606330	6606330	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:6606330G>A	ENST00000433363.2	-	5	908	c.675C>T	c.(673-675)acC>acT	p.T225T	SLC13A5_ENST00000293800.6_Silent_p.T208T|SLC13A5_ENST00000381074.4_Silent_p.T182T|SLC13A5_ENST00000573648.1_Silent_p.T225T	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	225					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GTCCCGTCCCGGTCAGGGTGG	0.647																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(673-675)acC>acT		solute carrier family 13 (sodium-dependent citrate transporter), member 5							118.0	99.0	105.0					17																	6606330		2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6606330G>A	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.675C>T	17.37:g.6606330G>A						SLC13A5_ENST00000381074.4_Silent_p.T182T|SLC13A5_ENST00000573648.1_Silent_p.T225T|SLC13A5_ENST00000293800.6_Silent_p.T208T	p.T225T	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			5	908	-			225					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.675C>T	CCDS11079.1																																																																																				0.647	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		5	170	0	0	0	0.217242	0	5	170				
DLGAP2	9228	broad.mit.edu	37	8	1616604	1616604	+	Silent	SNP	C	C	T	rs373983764		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:1616604C>T	ENST00000421627.2	+	6	1814	c.1680C>T	c.(1678-1680)gaC>gaT	p.D560D		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	639					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCACCCAGGACGCCTACCAGG	0.632																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(1678-1680)gaC>gaT		discs, large (Drosophila) homolog-associated protein 2		C		1,4097		0,1,2048	13.0	18.0	17.0		1680	-6.6	0.9	8		17	0,8388		0,0,4194	no	coding-synonymous	DLGAP2	NM_004745.3		0,1,6242	TT,TC,CC		0.0,0.0244,0.0080		560/976	1616604	1,12485	2049	4194	6243	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1616604C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1680C>T	8.37:g.1616604C>T							p.D560D	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	6	1814	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	639					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.1680C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	9.611	1.131372	0.21041	2.44E-4	0.0	ENSG00000198010	ENST00000520901	.	.	.	5.53	-6.62	0.01813	.	.	.	.	.	T	0.63651	0.2529	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67055	-0.5767	4	.	.	.	-9.65	16.6959	0.85335	0.0:0.4428:0.0:0.5572	.	.	.	.	M	577	.	.	T	+	2	0	DLGAP2	1604011	0.001000	0.12720	0.906000	0.35671	0.983000	0.72400	-1.701000	0.01903	-1.198000	0.02669	-1.152000	0.01820	ACG		0.632	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		4	20	0	0	0	0.184627	0	4	20				
FAM214A	56204	broad.mit.edu	37	15	52970217	52970217	+	Start_Codon_SNP	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:52970217A>G	ENST00000261844.7	-	2	154	c.2T>C	c.(1-3)aTg>aCg	p.M1T	FAM214A_ENST00000562351.1_5'UTR	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	1								p.M1T(1)									GTCTGGCTTCATTTTCACATC	0.453																																						ENST00000261844.7																			1	Substitution - Missense(1)	p.M1T(1)	prostate(1)								c.(1-3)aTg>aCg		family with sequence similarity 214, member A							111.0	111.0	111.0					15																	52970217		1867	4097	5964	SO:0001582	initiator_codon_variant	56204							g.chr15:52970217A>G	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2T>C	15.37:g.52970217A>G	ENSP00000261844:p.Met1Thr					FAM214A_ENST00000562351.1_5'UTR	p.M1T	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			2	154	-			1					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Translation_Start_Site	SNP	ENST00000261844.7	37	c.2T>C	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175971	0.38413	.	.	ENSG00000047346	ENST00000261844	T	0.34472	1.36	5.29	5.29	0.74685	.	.	.	.	.	T	0.57373	0.2049	.	.	.	0.80722	D	1	D	0.54601	0.967	D	0.63597	0.916	T	0.62320	-0.6879	8	0.87932	D	0	.	12.7903	0.57530	1.0:0.0:0.0:0.0	.	1	Q32MH5	K1370_HUMAN	T	1	ENSP00000261844:M1T	ENSP00000261844:M1T	M	-	2	0	KIAA1370	50757509	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.131000	0.57970	2.007000	0.58848	0.528000	0.53228	ATG		0.453	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	Missense_Mutation	14	134	0	0	0	0.479597	0	14	134				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	111	0	0	0	0.278610	0	4	111				
ADNP2	22850	broad.mit.edu	37	18	77896569	77896569	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:77896569T>C	ENST00000262198.4	+	4	3728	c.3273T>C	c.(3271-3273)ttT>ttC	p.F1091F		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1091					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F1091F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTTCATTTTTTGGAAAAAGAA	0.308																																						ENST00000262198.4																			1	Substitution - coding silent(1)	p.F1091F(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3271-3273)ttT>ttC		ADNP homeobox 2							46.0	50.0	49.0					18																	77896569		2198	4290	6488	SO:0001819	synonymous_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896569T>C	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3273T>C	18.37:g.77896569T>C							p.F1091F	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3728	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	1091					A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	c.3273T>C	CCDS32853.1																																																																																				0.308	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		9	98	0	0	0	0.361761	0	9	98				
DNAJB5	25822	broad.mit.edu	37	9	34993411	34993411	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:34993411C>T	ENST00000541010.1	+	1	3193	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	DNAJB5_ENST00000454002.2_Missense_Mutation_p.R133W|DNAJB5_ENST00000453597.3_Missense_Mutation_p.R175W|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R95W|DNAJB5_ENST00000545841.1_Missense_Mutation_p.R61W|DNAJB5_ENST00000312316.5_Missense_Mutation_p.R61W			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	61	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCCCAAGAAACGGGGCCTGTA	0.552																																						ENST00000541010.1																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(181-183)Cgg>Tgg		DnaJ (Hsp40) homolog, subfamily B, member 5							109.0	112.0	111.0					9																	34993411		2203	4300	6503	SO:0001583	missense	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34993411C>T	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.181C>T	9.37:g.34993411C>T	ENSP00000443151:p.Arg61Trp					DNAJB5_ENST00000312316.5_Missense_Mutation_p.R61W|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R95W|DNAJB5_ENST00000545841.1_Missense_Mutation_p.R61W|DNAJB5_ENST00000454002.2_Missense_Mutation_p.R133W|DNAJB5_ENST00000453597.3_Missense_Mutation_p.R175W	p.R61W			O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		1	3193	+			61			J.		B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Missense_Mutation	SNP	ENST00000541010.1	37	c.181C>T	CCDS35007.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516846	0.64634	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000378751;ENST00000312316;ENST00000541010;ENST00000454002;ENST00000545841;ENST00000539059;ENST00000443266	D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.31	4.39	0.52855	Heat shock protein DnaJ, N-terminal (4);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93812	0.8021	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95066	0.8200	10	0.87932	D	0	.	12.2005	0.54321	0.3097:0.6903:0.0:0.0	.	133;61	B4DSA6;O75953	.;DNJB5_HUMAN	W	175;95;61;61;61;133;61;97;61	ENSP00000404079:R175W;ENSP00000337626:R95W;ENSP00000312517:R61W;ENSP00000443151:R61W;ENSP00000413684:R133W;ENSP00000441999:R61W;ENSP00000445536:R97W;ENSP00000396332:R61W	ENSP00000312517:R61W	R	+	1	2	DNAJB5	34983411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.742000	0.55097	1.413000	0.46997	0.561000	0.74099	CGG		0.552	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			5	301	0	0	0	0.184627	0	5	301				
SPATA31A6	389730	broad.mit.edu	37	9	43625067	43625067	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:43625067G>A	ENST00000332857.6	-	4	3648	c.3620C>T	c.(3619-3621)aCg>aTg	p.T1207M	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1207					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T1207M(1)									TCCAACTGCCGTCATGAGACC	0.468																																						ENST00000332857.6																			1	Substitution - Missense(1)	p.T1207M(1)	prostate(1)								c.(3619-3621)aCg>aTg		SPATA31 subfamily A, member 6							7.0	12.0	11.0					9																	43625067		592	1497	2089	SO:0001583	missense	389730							g.chr9:43625067G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3620C>T	9.37:g.43625067G>A	ENSP00000329825:p.Thr1207Met						p.T1207M	NM_001145196.1	NP_001138668.1					4	3648	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.3620C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342253	0.24339	.	.	ENSG00000185775	ENST00000332857	T	0.05447	3.44	2.44	-0.945	0.10388	.	0.553031	0.15327	N	0.268238	T	0.13200	0.0320	L	0.60067	1.865	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.15578	-1.0432	10	0.59425	D	0.04	-6.9634	1.2939	0.02065	0.1401:0.2173:0.4207:0.2219	.	1207	Q5VVP1	F75A6_HUMAN	M	1207	ENSP00000329825:T1207M	ENSP00000329825:T1207M	T	-	2	0	FAM75A6	43565063	0.045000	0.20229	0.001000	0.08648	0.000000	0.00434	0.510000	0.22723	-0.167000	0.10871	-2.563000	0.00173	ACG		0.468	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		31	438	0	0	0	0.779181	0	31	438				
C20orf96	140680	broad.mit.edu	37	20	264701	264701	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr20:264701G>A	ENST00000360321.2	-	4	347	c.209C>T	c.(208-210)aCg>aTg	p.T70M	C20orf96_ENST00000400269.3_Missense_Mutation_p.T12M|C20orf96_ENST00000382369.5_Missense_Mutation_p.T35M	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	70								p.T70M(1)		endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TGTCACCACCGTAGTGGGCTT	0.537																																						ENST00000360321.2																			1	Substitution - Missense(1)	p.T70M(1)	prostate(1)	endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(208-210)aCg>aTg		chromosome 20 open reading frame 96							146.0	124.0	131.0					20																	264701		2203	4300	6503	SO:0001583	missense	140680							g.chr20:264701G>A	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.209C>T	20.37:g.264701G>A	ENSP00000353470:p.Thr70Met					C20orf96_ENST00000382369.5_Missense_Mutation_p.T35M|C20orf96_ENST00000400269.3_Missense_Mutation_p.T12M	p.T70M	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		4	347	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	70					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP	ENST00000360321.2	37	c.209C>T	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	g	1.611	-0.524044	0.04141	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.49139	0.89;0.79;0.89	3.54	-6.6	0.01824	.	2.662760	0.01471	N	0.016287	T	0.14570	0.0352	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.12013	0.002;0.005;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.0;0.001	T	0.30707	-0.9969	10	0.32370	T	0.25	2.3706	4.3448	0.11127	0.3868:0.1044:0.4069:0.1019	.	12;35;70;35	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	M	35;70;12	ENSP00000371806:T35M;ENSP00000353470:T70M;ENSP00000383128:T12M	ENSP00000353470:T70M	T	-	2	0	C20orf96	212701	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.653000	0.01986	-2.961000	0.00290	-4.977000	0.00002	ACG		0.537	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		10	104	0	0	0	0.387290	0	10	104				
KIF25	3834	broad.mit.edu	37	6	168443358	168443358	+	Missense_Mutation	SNP	G	G	A	rs199959876	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:168443358G>A	ENST00000443060.2	+	9	1338	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	KIF25_ENST00000354419.2_Missense_Mutation_p.R316Q|KIF25_ENST00000351261.3_Intron			Q9UIL4	KIF25_HUMAN	kinesin family member 25	316	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R316Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCCCGTACCGGAACAGCAGG	0.652													G|||	4	0.000798722	0.0	0.0043	5008	,	,		17785	0.0		0.001	False		,,,				2504	0.0					ENST00000443060.2																			1	Substitution - Missense(1)	p.R316Q(1)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(946-948)cGg>cAg		kinesin family member 25							112.0	107.0	109.0					6																	168443358		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168443358G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.947G>A	6.37:g.168443358G>A	ENSP00000388878:p.Arg316Gln					KIF25_ENST00000354419.2_Missense_Mutation_p.R316Q|KIF25_ENST00000351261.3_Intron	p.R316Q			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	9	1338	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	316					O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.947G>A	CCDS5305.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	20.2	3.957786	0.73902	.	.	ENSG00000125337	ENST00000443060;ENST00000354419	D;D	0.85339	-1.97;-1.97	4.13	4.13	0.48395	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.93687	0.7983	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95287	0.8391	10	0.87932	D	0	-7.1007	13.6293	0.62186	0.0:0.0:1.0:0.0	.	316	Q9UIL4	KIF25_HUMAN	Q	316	ENSP00000388878:R316Q;ENSP00000346401:R316Q	ENSP00000346401:R316Q	R	+	2	0	KIF25	168186207	1.000000	0.71417	0.506000	0.27664	0.433000	0.31745	5.343000	0.65976	2.011000	0.59026	0.543000	0.68304	CGG		0.652	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			7	157	0	0	0	0.307466	0	7	157				
DHRSX	207063	broad.mit.edu	37	X	2184932	2184932	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:2184932C>T	ENST00000334651.5	-	5	497	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	149							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TAGTTCAGGCCGAAATGTTCT	0.527													.|||	1	0.000199681	0.0	0.0	5008	,	,		20731	0.001		0.0	False		,,,				2504	0.0					ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(445-447)Ggc>Agc		dehydrogenase/reductase (SDR family) X-linked							413.0	363.0	380.0					X																	2184932		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2184932C>T	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.445G>A	X.37:g.2184932C>T	ENSP00000334113:p.Gly149Ser					DHRSX_ENST00000464935.1_5'UTR	p.G149S	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			5	497	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	149					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.445G>A	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713290	0.48517	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	T;T;T	0.21543	2.0;2.0;2.0	2.11	2.11	0.27256	NAD(P)-binding domain (1);	0.376135	0.25750	U	0.028549	T	0.40272	0.1110	M	0.67625	2.065	0.22500	N	0.999046	D	0.89917	1.0	D	0.68039	0.955	T	0.17410	-1.0370	10	0.87932	D	0	.	12.246	0.54571	0.0:1.0:0.0:0.0	.	149	Q8N5I4	DHRSX_HUMAN	S	149;126;82	ENSP00000334113:G149S;ENSP00000391778:G126S;ENSP00000402741:G82S	ENSP00000334113:G149S	G	-	1	0	DHRSX	2194932	0.009000	0.17119	0.882000	0.34594	0.715000	0.41141	0.864000	0.27926	0.856000	0.35383	0.272000	0.19324	GGC		0.527	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		23	253	0	0	0	0.667858	0	23	253				
SV2A	9900	broad.mit.edu	37	1	149885321	149885321	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:149885321C>T	ENST00000369146.3	-	2	562	c.72G>A	c.(70-72)aaG>aaA	p.K24K	SV2A_ENST00000369145.1_Silent_p.K24K	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	24	Interaction with SYT1. {ECO:0000250}.				cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.K24K(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGCCGCATGCTTTTTGACTT	0.547																																						ENST00000369146.3																			1	Substitution - coding silent(1)	p.K24K(1)	prostate(1)	breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(70-72)aaG>aaA		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						111.0	100.0	104.0					1																	149885321		2203	4300	6503	SO:0001819	synonymous_variant	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885321C>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.72G>A	1.37:g.149885321C>T						SV2A_ENST00000369145.1_Silent_p.K24K	p.K24K	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	562	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		24			Interaction with SYT1 (By similarity).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.72G>A	CCDS940.1																																																																																				0.547	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			36	133	0	0	0	0.812448	0	36	133				
ADAR	103	broad.mit.edu	37	1	154560617	154560617	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:154560617G>A	ENST00000368474.4	-	11	3202	c.3003C>T	c.(3001-3003)cgC>cgT	p.R1001R	ADAR_ENST00000368471.3_Silent_p.R706R|ADAR_ENST00000292205.5_Silent_p.R1044R	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1001	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCACCTTGGTGCGGAGCTTTC	0.557																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(3001-3003)cgC>cgT		adenosine deaminase, RNA-specific							255.0	230.0	239.0					1																	154560617		2203	4300	6503	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154560617G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3003C>T	1.37:g.154560617G>A						ADAR_ENST00000368471.3_Silent_p.R706R|ADAR_ENST00000292205.5_Silent_p.R1044R	p.R1001R	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	11	3202	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		1001			A to I editase.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.3003C>T	CCDS1071.1																																																																																				0.557	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		6	437	0	0	0	0.248553	0	6	437				
WNT9A	7483	broad.mit.edu	37	1	228111994	228111994	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:228111994C>T	ENST00000272164.5	-	3	470	c.460G>A	c.(460-462)Gca>Aca	p.A154T		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	154					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.A154T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				AGGTCGGGTGCCTCATCGCAG	0.642																																						ENST00000272164.5																			1	Substitution - Missense(1)	p.A154T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(460-462)Gca>Aca		wingless-type MMTV integration site family, member 9A							97.0	95.0	96.0					1																	228111994		2203	4300	6503	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228111994C>T	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.460G>A	1.37:g.228111994C>T	ENSP00000272164:p.Ala154Thr					WNT9A_ENST00000497852.1_5'UTR	p.A154T	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN			3	470	-		Prostate(94;0.0405)	154					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.460G>A	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915611	0.73098	.	.	ENSG00000143816	ENST00000272164	T	0.75477	-0.94	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	N	0.11023	0.085	0.54753	D	0.999989	B	0.29341	0.242	B	0.33254	0.16	T	0.52298	-0.8594	10	0.10636	T	0.68	.	11.9921	0.53182	0.173:0.827:0.0:0.0	.	154	O14904	WNT9A_HUMAN	T	154	ENSP00000272164:A154T	ENSP00000272164:A154T	A	-	1	0	WNT9A	226178617	1.000000	0.71417	0.991000	0.47740	0.546000	0.35178	3.118000	0.50414	2.195000	0.70347	0.491000	0.48974	GCA		0.642	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		30	178	0	0	0	0.729181	0	30	178				
PTH1R	5745	broad.mit.edu	37	3	46945059	46945059	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:46945059C>T	ENST00000313049.5	+	14	1898	c.1695C>T	c.(1693-1695)aaC>aaT	p.N565N	PTH1R_ENST00000449590.1_Silent_p.N565N|PTH1R_ENST00000430002.2_Silent_p.N565N|PTH1R_ENST00000418619.1_Silent_p.N565N			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	565					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GGTTCCTCAACGGCTCCTGCT	0.667																																						ENST00000313049.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						c.(1693-1695)aaC>aaT		parathyroid hormone 1 receptor							81.0	86.0	85.0					3																	46945059		2203	4300	6503	SO:0001819	synonymous_variant	5745					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46945059C>T		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1695C>T	3.37:g.46945059C>T						PTH1R_ENST00000430002.2_Silent_p.N565N|PTH1R_ENST00000418619.1_Silent_p.N565N|PTH1R_ENST00000449590.1_Silent_p.N565N	p.N565N			Q03431	PTH1R_HUMAN			14	1898	+			565					Q2M1U3	Silent	SNP	ENST00000313049.5	37	c.1695C>T	CCDS2747.1																																																																																				0.667	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		8	258	0	0	0	0.278610	0	8	258				
ADAM11	4185	broad.mit.edu	37	17	42855196	42855196	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:42855196G>A	ENST00000200557.6	+	23	2204	c.2035G>A	c.(2035-2037)Ggc>Agc	p.G679S	ADAM11_ENST00000535346.1_Missense_Mutation_p.G479S	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	679	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G679S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CACCTGCCCCGGCAGTGGGGA	0.642																																						ENST00000200557.6																			2	Substitution - Missense(2)	p.G679S(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2035-2037)Ggc>Agc		ADAM metallopeptidase domain 11							34.0	34.0	34.0					17																	42855196		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42855196G>A	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.2035G>A	17.37:g.42855196G>A	ENSP00000200557:p.Gly679Ser					ADAM11_ENST00000535346.1_Missense_Mutation_p.G479S	p.G679S	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			23	2204	+		Prostate(33;0.0959)	679			EGF-like.		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.2035G>A	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	6.353	0.433165	0.12045	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.28454	4.54;1.61	4.36	3.38	0.38709	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	L	0.37897	1.145	0.58432	D	0.999997	P;D	0.76494	0.472;0.999	B;P	0.54856	0.065;0.762	T	0.04281	-1.0963	10	0.08837	T	0.75	.	12.722	0.57147	0.0:0.0:0.8344:0.1656	.	479;679	B4DKD2;O75078	.;ADA11_HUMAN	S	679;479	ENSP00000200557:G679S;ENSP00000443773:G479S	ENSP00000200557:G679S	G	+	1	0	ADAM11	40210722	1.000000	0.71417	0.755000	0.31263	0.927000	0.56198	6.086000	0.71352	1.039000	0.40074	0.561000	0.74099	GGC		0.642	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		7	75	0	0	0	0.248553	0	7	75				
CYP2B7P	1556	broad.mit.edu	37	19	41430188	41430188	+	RNA	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:41430188G>A	ENST00000599198.1	+	0	65					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						ATGGAGCTCAGCGTCCTCCTC	0.582																																						ENST00000599198.1																			0				NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12																																														0							g.chr19:41430188G>A																													19.37:g.41430188G>A								NR_001278.1						0	65	+									RNA	SNP	ENST00000599198.1	37			.	.	.	.	.	.	.	.	.	.	G	9.483	1.098752	0.20552	.	.	ENSG00000256612	ENST00000541697	.	.	.	4.35	3.23	0.37069	.	0.512849	0.20230	N	0.096508	T	0.58206	0.2106	.	.	.	.	.	.	D;D	0.58268	0.982;0.982	P;P	0.58266	0.822;0.836	T	0.63695	-0.6579	7	0.25751	T	0.34	.	10.0509	0.42214	0.0:0.0:0.7996:0.2004	.	4;4	B6A7R5;Q14097	.;.	N	4	.	ENSP00000441190:S4N	S	+	2	0	AC008537.4	46122028	0.346000	0.24844	0.916000	0.36221	0.610000	0.37248	2.044000	0.41241	2.130000	0.65690	0.407000	0.27541	AGC		0.582	CYP2B7P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000465180.1			4	74	0	0	0	0.150653	0	4	74				
CREBBP	1387	broad.mit.edu	37	16	3842029	3842029	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:3842029G>T	ENST00000262367.5	-	5	2092	c.1283C>A	c.(1282-1284)cCt>cAt	p.P428H	CREBBP_ENST00000382070.3_Intron	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	428					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAGGCAAACAGGACAGTCATG	0.433			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(1282-1284)cCt>cAt		CREB binding protein							165.0	146.0	152.0					16																	3842029		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3842029G>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1283C>A	16.37:g.3842029G>T	ENSP00000262367:p.Pro428His					CREBBP_ENST00000382070.3_Intron	p.P428H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	5	2092	-		Ovarian(90;0.0266)	428					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.1283C>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278803	0.59758	.	.	ENSG00000005339	ENST00000262367	D	0.92299	-3.01	5.76	4.79	0.61399	Zinc finger, TAZ-type (5);	.	.	.	.	D	0.96491	0.8855	M	0.86651	2.83	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	D	0.97042	0.9758	9	0.66056	D	0.02	-4.1851	16.7098	0.85382	0.0:0.1296:0.8704:0.0	.	428	Q92793	CBP_HUMAN	H	428	ENSP00000262367:P428H	ENSP00000262367:P428H	P	-	2	0	CREBBP	3782030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	1.398000	0.46701	0.655000	0.94253	CCT		0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	193	1	0	0.217242	0.217242	0.219351	5	193				
KDM5A	5927	broad.mit.edu	37	12	416960	416960	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:416960T>G	ENST00000399788.2	-	23	3952	c.3590A>C	c.(3589-3591)cAa>cCa	p.Q1197P	KDM5A_ENST00000382815.4_Missense_Mutation_p.Q1197P	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1197					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCCTTTTTTTTGGGAACTTGA	0.468			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3589-3591)cAa>cCa		lysine (K)-specific demethylase 5A							110.0	106.0	107.0					12																	416960		1898	4122	6020	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416960T>G		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3590A>C	12.37:g.416960T>G	ENSP00000382688:p.Gln1197Pro					KDM5A_ENST00000382815.4_Missense_Mutation_p.Q1197P	p.Q1197P	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	3952	-			1197					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3590A>C	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626955	0.28978	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.84589	-1.87;-1.87	5.66	5.66	0.87406	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.053973	0.85682	D	0.000000	T	0.78886	0.4354	N	0.25825	0.765	0.53688	D	0.999979	B;B	0.19935	0.029;0.04	B;B	0.22386	0.039;0.023	T	0.74115	-0.3769	10	0.41790	T	0.15	-8.5862	16.1762	0.81855	0.0:0.0:0.0:1.0	.	1197;1197	P29375;P29375-2	KDM5A_HUMAN;.	P	1197	ENSP00000382688:Q1197P;ENSP00000372265:Q1197P	ENSP00000372265:Q1197P	Q	-	2	0	KDM5A	287221	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.800000	0.62524	2.283000	0.76528	0.477000	0.44152	CAA		0.468	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		4	156	0	0	0	0.184627	0	4	156				
KLHL14	57565	broad.mit.edu	37	18	30350295	30350295	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:30350295G>T	ENST00000359358.4	-	2	698	c.260C>A	c.(259-261)cCg>cAg	p.P87Q	KLHL14_ENST00000358095.4_Missense_Mutation_p.P87Q|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	87	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ctgctgcggcggctgctgctg	0.726																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(259-261)cCg>cAg		kelch-like family member 14							8.0	12.0	11.0					18																	30350295		2011	4052	6063	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350295G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.260C>A	18.37:g.30350295G>T	ENSP00000352314:p.Pro87Gln					KLHL14_ENST00000358095.4_Missense_Mutation_p.P87Q|AC012123.1_ENST00000426194.1_Intron	p.P87Q	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	698	-			87			BTB.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.260C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	4.210	0.037834	0.08148	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.76186	-0.72;-1.0	3.84	-0.421	0.12332	BTB/POZ-like (2);BTB/POZ fold (1);	0.528864	0.14262	N	0.330701	T	0.50274	0.1606	N	0.08118	0	0.30651	N	0.755429	B	0.02656	0.0	B	0.06405	0.002	T	0.39313	-0.9620	10	0.11182	T	0.66	.	13.1196	0.59318	0.0:0.0:0.638:0.362	.	87	Q9P2G3	KLH14_HUMAN	Q	87	ENSP00000352314:P87Q;ENSP00000350808:P87Q	ENSP00000350808:P87Q	P	-	2	0	KLHL14	28604293	0.278000	0.24230	0.997000	0.53966	0.830000	0.47004	-0.572000	0.05881	-0.256000	0.09473	0.460000	0.39030	CCG		0.726	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			4	54	1	0	0.00909568	0.150653	0.00945951	4	54				
ZBTB32	27033	broad.mit.edu	37	19	36206307	36206307	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:36206307C>A	ENST00000392197.2	+	3	1097	c.779C>A	c.(778-780)cCt>cAt	p.P260H	KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260H|KMT2B_ENST00000607650.1_RNA			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	260					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P260H(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGGCCAGCCTGCCCTGTGG	0.672																																						ENST00000392197.2																			1	Substitution - Missense(1)	p.P260H(1)	prostate(1)	large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.(778-780)cCt>cAt		zinc finger and BTB domain containing 32							42.0	45.0	44.0					19																	36206307		2201	4297	6498	SO:0001583	missense	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36206307C>A	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.779C>A	19.37:g.36206307C>A	ENSP00000376035:p.Pro260His					ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260H	p.P260H			Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	1097	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		260					Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	c.779C>A	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005196	0.74932	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.10192	2.9;2.9	5.33	5.33	0.75918	.	0.314536	0.23405	N	0.048535	T	0.15739	0.0379	L	0.27053	0.805	0.28072	N	0.93254	D	0.63046	0.992	P	0.54401	0.751	T	0.02263	-1.1186	10	0.54805	T	0.06	-0.6659	14.5085	0.67769	0.0:1.0:0.0:0.0	.	260	Q9Y2Y4	ZBT32_HUMAN	H	260	ENSP00000262630:P260H;ENSP00000376035:P260H	ENSP00000262630:P260H	P	+	2	0	ZBTB32	40898147	0.005000	0.15991	1.000000	0.80357	0.996000	0.88848	1.682000	0.37628	2.489000	0.83994	0.655000	0.94253	CCT		0.672	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		14	135	1	0	1.15088e-07	0.500413	1.26657e-07	14	135				
PON2	5445	broad.mit.edu	37	7	95041699	95041699	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:95041699G>A	ENST00000222572.3	-	4	538	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	PON2_ENST00000536183.1_Missense_Mutation_p.R119W|PON2_ENST00000483292.1_5'Flank|PON2_ENST00000433091.2_Missense_Mutation_p.R98W			Q15165	PON2_HUMAN	paraoxonase 2	98					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTAATTCCCGTGCCCTTGGT	0.438																																					GBM(42;803 823 13649 23368 31463)	ENST00000536183.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(355-357)Cgg>Tgg		paraoxonase 2							210.0	175.0	187.0					7																	95041699		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95041699G>A	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.292C>T	7.37:g.95041699G>A	ENSP00000222572:p.Arg98Trp					PON2_ENST00000222572.3_Missense_Mutation_p.R98W|PON2_ENST00000433091.2_Missense_Mutation_p.R98W	p.R119W	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	538	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		98					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.355C>T	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981311	0.34942	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.40225	2.31;1.04;2.31	4.86	3.07	0.35406	Six-bladed beta-propeller, TolB-like (1);	0.872780	0.10067	N	0.720149	T	0.23572	0.0570	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.21827	-1.0234	10	0.37606	T	0.19	-19.5239	0.8091	0.01090	0.2384:0.1296:0.3816:0.2504	.	98;98	A4D1H7;Q15165	.;PON2_HUMAN	W	119;96;98;98	ENSP00000440282:R119W;ENSP00000404622:R98W;ENSP00000222572:R98W	ENSP00000222572:R98W	R	-	1	2	PON2	94879635	0.002000	0.14202	0.994000	0.49952	0.965000	0.64279	0.499000	0.22546	0.775000	0.33450	0.561000	0.74099	CGG		0.438	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		5	85	0	0	0	0.184627	0	5	85				
ZSCAN10	84891	broad.mit.edu	37	16	3139448	3139448	+	Missense_Mutation	SNP	C	C	T	rs149846830	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:3139448C>T	ENST00000252463.2	-	5	1909	c.1822G>A	c.(1822-1824)Gcc>Acc	p.A608T	RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.A269T|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A526T	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	608					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTGTCGCAGGCGTGGGGCTTC	0.711																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1822-1824)Gcc>Acc		zinc finger and SCAN domain containing 10							23.0	24.0	24.0					16																	3139448		2192	4294	6486	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139448C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1822G>A	16.37:g.3139448C>T	ENSP00000252463:p.Ala608Thr					ZSCAN10_ENST00000575108.1_Missense_Mutation_p.A269T|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A526T	p.A608T	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1909	-			608					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1822G>A	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909004	0.33721	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T;T	0.36157	1.27;1.28	5.3	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.444758	0.19179	N	0.120726	T	0.13457	0.0326	N	0.10874	0.06	0.80722	D	1	P;D;P	0.53885	0.709;0.963;0.933	B;B;B	0.34138	0.07;0.176;0.093	T	0.03249	-1.1056	10	0.35671	T	0.21	-16.9112	4.9951	0.14235	0.0:0.5749:0.2241:0.201	.	269;541;608	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	T	541;608	ENSP00000440047:A541T;ENSP00000252463:A608T	ENSP00000252463:A608T	A	-	1	0	ZSCAN10	3079449	0.000000	0.05858	0.998000	0.56505	0.987000	0.75469	-3.636000	0.00407	1.261000	0.44149	0.556000	0.70494	GCC		0.711	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		5	84	0	0	0	0.184627	0	5	84				
MYRF	745	broad.mit.edu	37	11	61551032	61551032	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:61551032T>C	ENST00000278836.5	+	23	3175	c.3079T>C	c.(3079-3081)Tcc>Ccc	p.S1027P	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.S987P|MYRF_ENST00000389602.4_Missense_Mutation_p.S413P	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	1027					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S987P(1)									GAATTCGATGTCCATCACCTC	0.617																																						ENST00000278836.5																			1	Substitution - Missense(1)	p.S987P(1)	prostate(1)								c.(3079-3081)Tcc>Ccc		myelin regulatory factor							168.0	149.0	156.0					11																	61551032		2202	4299	6501	SO:0001583	missense	745							g.chr11:61551032T>C		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.3079T>C	11.37:g.61551032T>C	ENSP00000278836:p.Ser1027Pro					MYRF_ENST00000389602.4_Missense_Mutation_p.S413P|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.S987P	p.S1027P	NM_001127392.1	NP_001120864.1					23	3175	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.3079T>C	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	T	1.859	-0.463200	0.04476	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.45276	0.9;0.9;0.9	4.36	1.4	0.22301	.	0.343368	0.31747	N	0.007125	T	0.10465	0.0256	N	0.00538	-1.39	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.05517	-1.0880	10	0.23302	T	0.38	-15.9545	4.2911	0.10879	0.1115:0.5601:0.1825:0.1459	.	413;987;1027	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	P	1027;987;413	ENSP00000278836:S1027P;ENSP00000265460:S987P;ENSP00000374253:S413P	ENSP00000265460:S987P	S	+	1	0	C11orf9	61307608	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	1.064000	0.30579	0.172000	0.19760	-0.896000	0.02909	TCC		0.617	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		11	303	0	0	0	0.361761	0	11	303				
PRDM2	7799	broad.mit.edu	37	1	14105677	14105677	+	Missense_Mutation	SNP	G	G	A	rs143566559	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:14105677G>A	ENST00000235372.7	+	8	2243	c.1387G>A	c.(1387-1389)Gct>Act	p.A463T	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.A262T|PRDM2_ENST00000311066.5_Missense_Mutation_p.A463T|PRDM2_ENST00000413440.1_Missense_Mutation_p.A262T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	463					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A463T(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTCAGAGAAGGCTTCCCAAGA	0.418													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20246	0.0		0.0	False		,,,				2504	0.0					ENST00000235372.7																			1	Substitution - Missense(1)	p.A463T(1)	prostate(1)	endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(1387-1389)Gct>Act		PR domain containing 2, with ZNF domain		G	THR/ALA,,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	42.0	40.0	41.0		784,,1387,1387	3.6	0.2	1	dbSNP_134	41	0,8600		0,0,4300	yes	missense,intron,missense,missense	PRDM2	NM_001007257.2,NM_001135610.1,NM_012231.4,NM_015866.4	58,,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign,benign	262/1482,,463/1719,463/1683	14105677	1,13005	2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105677G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1387G>A	1.37:g.14105677G>A	ENSP00000235372:p.Ala463Thr					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A463T|PRDM2_ENST00000343137.4_Missense_Mutation_p.A262T|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.A262T	p.A463T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	2243	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	463					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.1387G>A	CCDS150.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	0.471	-0.884446	0.02530	2.27E-4	0.0	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01599	4.84;4.74;4.75;4.75	5.48	3.59	0.41128	.	0.545977	0.18598	N	0.136536	T	0.01287	0.0042	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.30824	0.091;0.001;0.296;0.147	B;B;B;B	0.27715	0.038;0.001;0.027;0.082	T	0.48468	-0.9033	10	0.14252	T	0.57	.	4.7868	0.13229	0.082:0.15:0.6128:0.1552	.	463;321;463;463	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	T	463;463;463;262;262	ENSP00000235372:A463T;ENSP00000312352:A463T;ENSP00000411103:A262T;ENSP00000341621:A262T	ENSP00000235372:A463T	A	+	1	0	PRDM2	13978264	0.105000	0.21958	0.170000	0.22879	0.400000	0.30750	2.782000	0.47758	0.655000	0.30866	-0.264000	0.10439	GCT		0.418	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		7	70	0	0	0	0.278610	0	7	70				
BAI2	576	broad.mit.edu	37	1	32221807	32221807	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:32221807C>T	ENST00000373658.3	-	4	972	c.631G>A	c.(631-633)Gct>Act	p.A211T	BAI2_ENST00000257070.4_Missense_Mutation_p.A211T|BAI2_ENST00000398547.1_Missense_Mutation_p.A199T|BAI2_ENST00000527361.1_Missense_Mutation_p.A211T|BAI2_ENST00000398538.1_Missense_Mutation_p.A199T|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398542.1_Missense_Mutation_p.A199T|BAI2_ENST00000398556.3_Missense_Mutation_p.A214T|BAI2_ENST00000373655.2_Missense_Mutation_p.A211T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	211					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A211T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGCCGGCAGCGCGGCCACAC	0.647																																						ENST00000373658.3																			1	Substitution - Missense(1)	p.A211T(1)	prostate(1)	breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(631-633)Gct>Act		brain-specific angiogenesis inhibitor 2							25.0	31.0	29.0					1																	32221807		2199	4298	6497	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32221807C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.631G>A	1.37:g.32221807C>T	ENSP00000362762:p.Ala211Thr					BAI2_ENST00000398547.1_Missense_Mutation_p.A199T|BAI2_ENST00000373655.2_Missense_Mutation_p.A211T|BAI2_ENST00000398538.1_Missense_Mutation_p.A199T|BAI2_ENST00000398556.3_Missense_Mutation_p.A214T|BAI2_ENST00000527361.1_Missense_Mutation_p.A211T|BAI2_ENST00000398542.1_Missense_Mutation_p.A199T|BAI2_ENST00000257070.4_Missense_Mutation_p.A211T	p.A211T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	972	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	211					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.631G>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867277	0.32977	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.41400	1.67;1.86;1.05;1.05;2.02;1.0;1.0;1.06;1.64;1.49	5.2	1.99	0.26369	.	0.168757	0.28641	N	0.014640	T	0.26122	0.0637	N	0.12182	0.205	0.09310	N	0.999999	P;D;D;P;D;D	0.63046	0.918;0.961;0.992;0.924;0.961;0.987	B;B;P;B;B;P	0.52189	0.109;0.387;0.692;0.147;0.409;0.496	T	0.12041	-1.0563	10	0.12766	T	0.61	.	4.5381	0.12043	0.2666:0.5245:0.1302:0.0787	.	199;211;199;199;211;211	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	T	214;199;211;211;199;211;211;199;204;245	ENSP00000381564:A214T;ENSP00000381555:A199T;ENSP00000362762:A211T;ENSP00000362759:A211T;ENSP00000381550:A199T;ENSP00000257070:A211T;ENSP00000435397:A211T;ENSP00000381548:A199T;ENSP00000410921:A204T;ENSP00000437219:A245T	ENSP00000257070:A211T	A	-	1	0	BAI2	31994394	0.000000	0.05858	0.162000	0.22713	0.969000	0.65631	-0.199000	0.09491	0.649000	0.30751	0.462000	0.41574	GCT		0.647	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		9	86	0	0	0	0.307466	0	9	86				
FAM171A1	221061	broad.mit.edu	37	10	15325965	15325965	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:15325965C>T	ENST00000378116.4	-	2	243	c.237G>A	c.(235-237)caG>caA	p.Q79Q		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	79						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCAGCTTATACTGGAACTTGA	0.567																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(235-237)caG>caA		family with sequence similarity 171, member A1							96.0	82.0	87.0					10																	15325965		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15325965C>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.237G>A	10.37:g.15325965C>T							p.Q79Q	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			2	243	-			79					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.237G>A	CCDS31154.1																																																																																				0.567	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		4	143	0	0	0	0.150653	0	4	143				
CROCCP2	84809	broad.mit.edu	37	1	16957414	16957414	+	lincRNA	SNP	C	C	T	rs2296161	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:16957414C>T	ENST00000412962.1	-	0	264							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AAGTGCAGGGCGGAGAGAATC	0.706																																						ENST00000412962.1																			0																																																			0							g.chr1:16957414C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16957414C>T														0	264	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.706	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	29	0	0	0	0.184627	0	5	29				
SLC35D2	11046	broad.mit.edu	37	9	99099021	99099021	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:99099021A>G	ENST00000253270.7	-	9	792	c.730T>C	c.(730-732)Ttt>Ctt	p.F244L	SLC35D2_ENST00000375259.4_Intron	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	244					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				GAAAGAAGAAACTGTAGGATA	0.313																																						ENST00000253270.7																			0				endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12						c.(730-732)Ttt>Ctt		solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2							58.0	51.0	54.0					9																	99099021		2194	4297	6491	SO:0001583	missense	11046					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	g.chr9:99099021A>G	AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"""Solute carriers"""	20799	protein-coding gene	gene with protein product		609182	"""solute carrier family 35, member D2"""			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.730T>C	9.37:g.99099021A>G	ENSP00000253270:p.Phe244Leu					SLC35D2_ENST00000375259.4_Intron	p.F244L	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN			9	792	-		Acute lymphoblastic leukemia(62;0.0167)	244					O95454|Q498C1|Q75W21|Q7Z5X5	Missense_Mutation	SNP	ENST00000253270.7	37	c.730T>C	CCDS6717.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.576923	0.86645	.	.	ENSG00000130958	ENST00000253270	T	0.56444	0.46	4.66	4.66	0.58398	Domain of unknown function DUF250 (1);	0.054512	0.85682	N	0.000000	T	0.59390	0.2190	M	0.63843	1.955	0.80722	D	1	P	0.34934	0.476	P	0.47786	0.557	T	0.54316	-0.8312	10	0.16896	T	0.51	.	13.5352	0.61643	1.0:0.0:0.0:0.0	.	244	Q76EJ3	S35D2_HUMAN	L	244	ENSP00000253270:F244L	ENSP00000253270:F244L	F	-	1	0	SLC35D2	98138842	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.291000	0.72719	2.087000	0.62958	0.455000	0.32223	TTT		0.313	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1			3	8	0	0	0	0.115264	0	3	8				
ZBTB21	49854	broad.mit.edu	37	21	43412180	43412180	+	Silent	SNP	G	G	A	rs143540135		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr21:43412180G>A	ENST00000310826.5	-	3	2208	c.2025C>T	c.(2023-2025)tgC>tgT	p.C675C	ZBTB21_ENST00000398511.3_Silent_p.C675C|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Silent_p.C675C|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	675					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.C675C(1)									ACGCTTTTCCGCAGTAAGTAC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		20375	0.001		0.0	False		,,,				2504	0.0					ENST00000310826.5																			1	Substitution - coding silent(1)	p.C675C(1)	prostate(1)								c.(2023-2025)tgC>tgT		zinc finger and BTB domain containing 21							92.0	96.0	94.0					21																	43412180		2203	4300	6503	SO:0001819	synonymous_variant	49854							g.chr21:43412180G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2025C>T	21.37:g.43412180G>A						ZBTB21_ENST00000398511.3_Silent_p.C675C|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Silent_p.C675C	p.C675C	NM_001098402.1	NP_001091872.1					3	2208	-								Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP	ENST00000310826.5	37	c.2025C>T	CCDS13678.1																																																																																				0.438	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		11	135	0	0	0	0.361761	0	11	135				
GPR179	440435	broad.mit.edu	37	17	36486199	36486199	+	Missense_Mutation	SNP	G	G	A	rs369300497	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:36486199G>A	ENST00000342292.4	-	11	3273	c.3253C>T	c.(3253-3255)Cgc>Tgc	p.R1085C	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1085					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1085C(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCAGGCTGCGCATGGAACCC	0.582													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19609	0.0		0.0	False		,,,				2504	0.0					ENST00000342292.4																			1	Substitution - Missense(1)	p.R1085C(1)	prostate(1)	breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3253-3255)Cgc>Tgc		G protein-coupled receptor 179		G	CYS/ARG	0,4032		0,0,2016	61.0	66.0	64.0		3253	2.1	1.0	17		64	1,8349		0,1,4174	no	missense	GPR179	NM_001004334.2	180	0,1,6190	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	1085/2368	36486199	1,12381	2016	4175	6191	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486199G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3253C>T	17.37:g.36486199G>A	ENSP00000345060:p.Arg1085Cys						p.R1085C	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	3273	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1085						Missense_Mutation	SNP	ENST00000342292.4	37	c.3253C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461938	0.43736	0.0	1.2E-4	ENSG00000188888	ENST00000342292	T	0.60424	0.19	5.38	2.11	0.27256	.	0.388792	0.21526	N	0.073129	T	0.38401	0.1039	L	0.27053	0.805	0.25072	N	0.990985	B	0.17465	0.022	B	0.08055	0.003	T	0.31668	-0.9935	10	0.87932	D	0	-4.4701	4.6343	0.12516	0.1781:0.0:0.5663:0.2556	.	1085	Q6PRD1	GP179_HUMAN	C	1085	ENSP00000345060:R1085C	ENSP00000345060:R1085C	R	-	1	0	GPR179	33739725	0.000000	0.05858	0.996000	0.52242	0.895000	0.52256	0.139000	0.16036	0.806000	0.34183	-0.355000	0.07637	CGC		0.582	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			4	88	0	0	0	0.150653	0	4	88				
BCL11A	53335	broad.mit.edu	37	2	60688396	60688396	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:60688396C>T	ENST00000335712.6	-	4	1878	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.V517M|BCL11A_ENST00000356842.4_Missense_Mutation_p.V551M|BCL11A_ENST00000537768.1_Missense_Mutation_p.V220M|BCL11A_ENST00000538214.1_Missense_Mutation_p.V517M|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	551					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.V551M(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTGAGCACCATGCCCTGC	0.716			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		3	Substitution - Missense(3)	p.V551M(3)	prostate(3)	NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1651-1653)Gtg>Atg		B-cell CLL/lymphoma 11A (zinc finger protein)							22.0	22.0	22.0					2																	60688396		2197	4286	6483	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688396C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1651G>A	2.37:g.60688396C>T	ENSP00000338774:p.Val551Met					BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.V220M|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.V517M|BCL11A_ENST00000356842.4_Missense_Mutation_p.V551M|BCL11A_ENST00000538214.1_Missense_Mutation_p.V517M	p.V551M	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1878	-			551					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1651G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	8.459	0.854965	0.17106	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.08807	3.05;3.32;3.2;3.31;3.26	5.56	4.69	0.59074	.	0.315085	0.29940	N	0.010804	T	0.08044	0.0201	N	0.22421	0.69	0.44227	D	0.997063	P;B;B;P;P	0.47604	0.846;0.379;0.189;0.898;0.898	B;B;B;B;B	0.43701	0.326;0.048;0.102;0.312;0.428	T	0.35574	-0.9783	10	0.34782	T	0.22	-2.7721	14.0428	0.64687	0.0:0.927:0.0:0.073	.	517;220;517;551;551	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	M	551;576;517;220;551;517	ENSP00000349300:V551M;ENSP00000438303:V517M;ENSP00000443712:V220M;ENSP00000338774:V551M;ENSP00000351307:V517M	ENSP00000338774:V551M	V	-	1	0	BCL11A	60541900	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	4.597000	0.61062	1.353000	0.45828	-0.142000	0.14014	GTG		0.716	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		4	43	0	0	0	0.150653	0	4	43				
EVPL	2125	broad.mit.edu	37	17	74005213	74005213	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:74005213C>T	ENST00000301607.3	-	22	4326	c.4073G>A	c.(4072-4074)cGc>cAc	p.R1358H	EVPL_ENST00000586740.1_Missense_Mutation_p.R1380H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1358	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CAGCAGCAGGCGCTTGCTCTG	0.687																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4072-4074)cGc>cAc		envoplakin							60.0	62.0	61.0					17																	74005213		2198	4295	6493	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005213C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4073G>A	17.37:g.74005213C>T	ENSP00000301607:p.Arg1358His					EVPL_ENST00000586740.1_Missense_Mutation_p.R1380H	p.R1358H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	4326	-			1358			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4073G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	4.729	0.135530	0.09032	.	.	ENSG00000167880	ENST00000301607	T	0.42900	0.96	5.55	-2.01	0.07410	.	1.002690	0.08030	N	0.993396	T	0.25644	0.0624	L	0.39245	1.2	0.20307	N	0.999911	B;B	0.31599	0.33;0.132	B;B	0.19666	0.026;0.011	T	0.17107	-1.0380	10	0.19147	T	0.46	-8.4803	6.0123	0.19582	0.4931:0.0777:0.0:0.4292	.	1380;1358	B7ZLH8;Q92817	.;EVPL_HUMAN	H	1358	ENSP00000301607:R1358H	ENSP00000301607:R1358H	R	-	2	0	EVPL	71516808	0.990000	0.36364	0.618000	0.29105	0.002000	0.02628	0.172000	0.16704	-0.307000	0.08804	-0.345000	0.07892	CGC		0.687	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		5	187	0	0	0	0.184627	0	5	187				
DDX23	9416	broad.mit.edu	37	12	49237789	49237789	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:49237789C>T	ENST00000308025.3	-	3	333	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	85	Arg-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.R85Q(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTCTTATTCCGATCCCGCTC	0.488																																						ENST00000308025.3																			1	Substitution - Missense(1)	p.R85Q(1)	prostate(1)	NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(253-255)cGg>cAg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							402.0	342.0	362.0					12																	49237789		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49237789C>T	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.254G>A	12.37:g.49237789C>T	ENSP00000310723:p.Arg85Gln					DDX23_ENST00000553182.1_5'UTR	p.R85Q	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			3	333	-			85			Arg-rich.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.254G>A	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758289	0.89843	.	.	ENSG00000174243	ENST00000308025;ENST00000552512;ENST00000551468	T	0.22336	1.96	5.39	5.39	0.77823	.	0.122643	0.48286	D	0.000181	T	0.25865	0.0630	L	0.34521	1.04	0.51767	D	0.999932	P	0.44241	0.829	P	0.49528	0.614	T	0.00797	-1.1562	10	0.30854	T	0.27	-1.0345	16.0682	0.80903	0.0:1.0:0.0:0.0	.	85	Q9BUQ8	DDX23_HUMAN	Q	85	ENSP00000310723:R85Q	ENSP00000310723:R85Q	R	-	2	0	DDX23	47524056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.295000	0.72744	2.526000	0.85167	0.591000	0.81541	CGG		0.488	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		21	382	0	0	0	0.608945	0	21	382				
OBSCN	84033	broad.mit.edu	37	1	228456388	228456388	+	Silent	SNP	C	C	T	rs375439636		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:228456388C>T	ENST00000422127.1	+	17	5063	c.5019C>T	c.(5017-5019)cgC>cgT	p.R1673R	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.R1857R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.R1673R|OBSCN_ENST00000359599.6_Silent_p.R329R|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1673	Ig-like 17.			RV -> HM (in Ref. 1; CAC85750). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R1673R(1)|p.R1765R(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAAAGTGCGCGTGGAGGCCG	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		19980	0.0		0.001	False		,,,				2504	0.0					ENST00000570156.2																			2	Substitution - coding silent(2)	p.R1673R(1)|p.R1765R(1)	prostate(2)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5569-5571)cgC>cgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	,	1,4169		0,1,2084	54.0	58.0	57.0		5019,5019	-6.9	0.2	1		57	4,8388		0,4,4192	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,5,6276	TT,TC,CC		0.0477,0.024,0.0398	,	1673/7969,1673/6621	228456388	5,12557	2085	4196	6281	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228456388C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5019C>T	1.37:g.228456388C>T						OBSCN_ENST00000284548.11_Silent_p.R1673R|OBSCN_ENST00000359599.6_Silent_p.R329R|OBSCN_ENST00000422127.1_Silent_p.R1673R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.R1857R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			19	5645	+		Prostate(94;0.0405)	845			Ig-like 18.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.5571C>T	CCDS58065.1																																																																																				0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		16	154	0	0	0	0.500413	0	16	154				
ACSF3	197322	broad.mit.edu	37	16	89212411	89212411	+	Nonsense_Mutation	SNP	C	C	T	rs387907118		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:89212411C>T	ENST00000317447.4	+	10	1944	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000378345.4_Nonsense_Mutation_p.R258*|ACSF3_ENST00000406948.3_Nonsense_Mutation_p.R523*	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	523					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)	p.R523*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GGTGACCCTCCGAGAAGGACA	0.597																																						ENST00000317447.4																			1	Substitution - Nonsense(1)	p.R523*(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(1567-1569)Cga>Tga		acyl-CoA synthetase family member 3							133.0	126.0	129.0					16																	89212411		2198	4300	6498	SO:0001587	stop_gained	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89212411C>T	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1567C>T	16.37:g.89212411C>T	ENSP00000320646:p.Arg523*					ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000406948.3_Nonsense_Mutation_p.R523*|ACSF3_ENST00000378345.4_Nonsense_Mutation_p.R258*	p.R523*	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	10	1944	+			523					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Nonsense_Mutation	SNP	ENST00000317447.4	37	c.1567C>T	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590196	0.28357	.	.	ENSG00000176715	ENST00000317447;ENST00000406948;ENST00000378345	.	.	.	4.99	1.79	0.24919	.	0.667247	0.14025	N	0.346505	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.0E-4	10.9663	0.47414	0.1368:0.5993:0.2638:0.0	.	.	.	.	X	523;523;258	.	ENSP00000320646:R523X	R	+	1	2	ACSF3	87739912	0.004000	0.15560	0.000000	0.03702	0.005000	0.04900	0.211000	0.17474	0.103000	0.17682	-0.463000	0.05309	CGA		0.597	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		6	161	0	0	0	0.248553	0	6	161				
ZFP3	124961	broad.mit.edu	37	17	4995356	4995356	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:4995356G>A	ENST00000318833.3	+	2	893	c.557G>A	c.(556-558)cGg>cAg	p.R186Q		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R186Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						AGCCTTCGACGGCACCTGAGA	0.393																																						ENST00000318833.3																			1	Substitution - Missense(1)	p.R186Q(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						c.(556-558)cGg>cAg		ZFP3 zinc finger protein							94.0	104.0	100.0					17																	4995356		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4995356G>A	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.557G>A	17.37:g.4995356G>A	ENSP00000320347:p.Arg186Gln						p.R186Q	NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN			2	893	+			186					A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.557G>A	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738590	0.15642	.	.	ENSG00000180787	ENST00000318833	T	0.26223	1.75	4.08	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36167	N	0.002745	T	0.22437	0.0541	L	0.52905	1.665	0.09310	N	1	D	0.57899	0.981	P	0.44673	0.457	T	0.12344	-1.0551	10	0.09338	T	0.73	-12.4569	9.4826	0.38911	0.0:0.0:0.7893:0.2107	.	186	Q96NJ6	ZFP3_HUMAN	Q	186	ENSP00000320347:R186Q	ENSP00000320347:R186Q	R	+	2	0	ZFP3	4936080	0.000000	0.05858	0.984000	0.44739	0.960000	0.62799	-0.243000	0.08915	2.578000	0.87016	0.557000	0.71058	CGG		0.393	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		7	185	0	0	0	0.278610	0	7	185				
BMP8B	656	broad.mit.edu	37	1	40228862	40228862	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:40228862C>T	ENST00000372827.3	-	6	1336	c.961G>A	c.(961-963)Gct>Act	p.A321T	PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	321					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCTTGGGGAGCGATGACCCAG	0.637																																						ENST00000372827.3																			0				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4						c.(961-963)Gct>Act		bone morphogenetic protein 8b							171.0	135.0	147.0					1																	40228862		2203	4300	6503	SO:0001583	missense	656				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:40228862C>T	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1075	protein-coding gene	gene with protein product	"""osteogenic protein 2"""	602284	"""bone morphogenetic protein 8 (osteogenic protein 2)"""	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.961G>A	1.37:g.40228862C>T	ENSP00000361915:p.Ala321Thr					PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron	p.A321T	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	1336	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	321					E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	ENST00000372827.3	37	c.961G>A	CCDS444.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776045	0.90195	.	.	ENSG00000116985	ENST00000372827	D	0.84730	-1.89	3.75	3.75	0.43078	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	U	0.000000	D	0.95143	0.8426	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.96947	0.9692	10	0.87932	D	0	.	14.4873	0.67626	0.0:1.0:0.0:0.0	.	321	P34820	BMP8B_HUMAN	T	321	ENSP00000361915:A321T	ENSP00000361915:A321T	A	-	1	0	BMP8B	40001449	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.231000	0.78106	1.917000	0.55516	0.561000	0.74099	GCT		0.637	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	NM_001720		9	162	0	0	0	0.361761	0	9	162				
FOLR2	2350	broad.mit.edu	37	11	71932028	71932028	+	Missense_Mutation	SNP	G	G	A	rs140643936	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:71932028G>A	ENST00000298223.6	+	3	452	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	FOLR2_ENST00000449475.2_Missense_Mutation_p.A106T|FOLR2_ENST00000454954.2_Missense_Mutation_p.A48T	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	89					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	GATGGAGCCCGCCTGCAAGCG	0.622													G|||	4	0.000798722	0.0	0.0	5008	,	,		13025	0.0		0.0	False		,,,				2504	0.0041					ENST00000449475.2																			0				breast(3)|large_intestine(3)|ovary(1)|skin(1)	8						c.(316-318)Gcc>Acc		folate receptor 2 (fetal)	Folic Acid(DB00158)						38.0	39.0	39.0					11																	71932028		2200	4293	6493	SO:0001583	missense	2350				folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity	g.chr11:71932028G>A	AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.265G>A	11.37:g.71932028G>A	ENSP00000298223:p.Ala89Thr					FOLR2_ENST00000298223.6_Missense_Mutation_p.A89T|FOLR2_ENST00000454954.2_Missense_Mutation_p.A48T	p.A106T			P14207	FOLR2_HUMAN			3	614	+			89					Q05CA5|Q6GTE8	Missense_Mutation	SNP	ENST00000298223.6	37	c.316G>A	CCDS8212.1	.	.	.	.	.	.	.	.	.	.	g	15.56	2.870354	0.51588	.	.	ENSG00000165457	ENST00000449475;ENST00000298223;ENST00000413873;ENST00000454954;ENST00000541003;ENST00000539412;ENST00000536778;ENST00000535625;ENST00000321324;ENST00000538353	T;T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.37	1.46	0.22682	Folate receptor-like (1);	0.945507	0.08793	N	0.892873	T	0.77532	0.4144	M	0.90019	3.08	0.09310	N	1	P	0.35959	0.53	B	0.31101	0.124	T	0.61642	-0.7021	10	0.25106	T	0.35	.	7.8424	0.29406	0.3644:0.0:0.6356:0.0	.	89	P14207	FOLR2_HUMAN	T	106;89;106;48;135;100;104;89;102;89	ENSP00000405638:A106T;ENSP00000298223:A89T;ENSP00000414094:A48T;ENSP00000443307:A135T;ENSP00000441547:A100T;ENSP00000438568:A104T;ENSP00000444794:A89T;ENSP00000321957:A102T;ENSP00000440337:A89T	ENSP00000298223:A89T	A	+	1	0	FOLR2	71609676	0.002000	0.14202	0.261000	0.24466	0.928000	0.56348	0.657000	0.24963	0.130000	0.18549	0.455000	0.32223	GCC		0.622	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803		7	56	0	0	0	0.248553	0	7	56				
DNMT1	1786	broad.mit.edu	37	19	10262102	10262102	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:10262102C>T	ENST00000340748.4	-	23	2424	c.2189G>A	c.(2188-2190)cGc>cAc	p.R730H	DNMT1_ENST00000540357.1_Missense_Mutation_p.R730H|DNMT1_ENST00000359526.4_Missense_Mutation_p.R746H			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	730	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R730H(2)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCAAGAGATGCGATTCTTGTT	0.512																																						ENST00000340748.4																			2	Substitution - Missense(2)	p.R730H(2)	prostate(2)	breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2188-2190)cGc>cAc		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						264.0	216.0	232.0					19																	10262102		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262102C>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2189G>A	19.37:g.10262102C>T	ENSP00000345739:p.Arg730His					DNMT1_ENST00000540357.1_Missense_Mutation_p.R730H|DNMT1_ENST00000359526.4_Missense_Mutation_p.R746H	p.R730H			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2424	-			730					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.2189G>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949656	0.92660	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.23348	1.91;1.91;1.91	5.75	5.75	0.90469	.	0.158280	0.52532	D	0.000067	T	0.44664	0.1304	L	0.57536	1.79	0.39925	D	0.974206	D;D;D	0.64830	0.993;0.994;0.988	P;P;P	0.56865	0.808;0.808;0.648	T	0.36237	-0.9756	10	0.66056	D	0.02	.	18.7107	0.91655	0.0:1.0:0.0:0.0	.	730;746;730	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	H	746;730;730;598	ENSP00000352516:R746H;ENSP00000440457:R730H;ENSP00000345739:R730H	ENSP00000345739:R730H	R	-	2	0	DNMT1	10123102	1.000000	0.71417	0.879000	0.34478	0.980000	0.70556	4.707000	0.61852	2.713000	0.92767	0.655000	0.94253	CGC		0.512	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		17	200	0	0	0	0.539581	0	17	200				
KMT2A	4297	broad.mit.edu	37	11	118371737	118371737	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:118371737G>A	ENST00000389506.5	+	25	6185	c.6185G>A	c.(6184-6186)cGc>cAc	p.R2062H	KMT2A_ENST00000354520.4_Missense_Mutation_p.R2024H|KMT2A_ENST00000534358.1_Missense_Mutation_p.R2065H			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2062	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ACAGATGCTCGCAAGCGCTGT	0.458																																						ENST00000534358.1																			0											c.(6193-6195)cGc>cAc		lysine (K)-specific methyltransferase 2A							121.0	99.0	107.0					11																	118371737		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118371737G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6185G>A	11.37:g.118371737G>A	ENSP00000374157:p.Arg2062His					KMT2A_ENST00000354520.4_Missense_Mutation_p.R2024H|KMT2A_ENST00000389506.5_Missense_Mutation_p.R2062H	p.R2065H	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					25	6217	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.6194G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595749	0.86953	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.78364	-1.17;-1.17;-1.17	5.62	5.62	0.85841	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.85682	D	0.000000	D	0.85940	0.5814	L	0.49350	1.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85144	0.0982	10	0.48119	T	0.1	.	19.6664	0.95894	0.0:0.0:1.0:0.0	.	2065;2062	E9PQG7;Q03164	.;MLL1_HUMAN	H	2065;2062;2024;972	ENSP00000436786:R2065H;ENSP00000374157:R2062H;ENSP00000346516:R2024H	ENSP00000346516:R2024H	R	+	2	0	MLL	117876947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.827000	0.99397	2.640000	0.89533	0.591000	0.81541	CGC		0.458	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		6	100	0	0	0	0.217242	0	6	100				
SETD5	55209	broad.mit.edu	37	3	9489431	9489431	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:9489431C>T	ENST00000406341.1	+	14	2034	c.1844C>T	c.(1843-1845)cCg>cTg	p.P615L	SETD5_ENST00000302463.6_Missense_Mutation_p.P517L|SETD5_ENST00000402466.1_Missense_Mutation_p.P517L|SETD5_ENST00000407969.1_Missense_Mutation_p.P634L|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.P615L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	615										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGCCCCGGCCGAAGAGTCGA	0.507																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1549-1551)cCg>cTg		SET domain containing 5							92.0	95.0	94.0					3																	9489431		1913	4127	6040	SO:0001583	missense	55209							g.chr3:9489431C>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1844C>T	3.37:g.9489431C>T	ENSP00000383939:p.Pro615Leu					SETD5_ENST00000302463.6_Missense_Mutation_p.P517L|SETD5_ENST00000402198.1_Missense_Mutation_p.P615L|SETD5_ENST00000406341.1_Missense_Mutation_p.P615L|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.P634L	p.P517L			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	16	2318	+	Medulloblastoma(99;0.227)		615					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.1550C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781327	0.90282	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.92647	-2.74;-3.08;-2.74;-2.73;-3.08	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95262	0.8463	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.997	D	0.93771	0.7075	10	0.34782	T	0.22	-7.9867	19.8199	0.96589	0.0:1.0:0.0:0.0	.	284;517;615;634	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	L	615;517;615;634;517	ENSP00000385852:P615L;ENSP00000384429:P517L;ENSP00000383939:P615L;ENSP00000384114:P634L;ENSP00000302028:P517L	ENSP00000302028:P517L	P	+	2	0	SETD5	9464431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.337000	0.79256	2.677000	0.91161	0.655000	0.94253	CCG		0.507	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		5	298	0	0	0	0.248553	0	5	298				
NOTCH1	4851	broad.mit.edu	37	9	139401818	139401818	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:139401818G>A	ENST00000277541.6	-	22	3657	c.3582C>T	c.(3580-3582)aaC>aaT	p.N1194N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1194	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCCCCCGTTCTGGCAGG	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3580-3582)aaC>aaT		notch 1							26.0	34.0	31.0					9																	139401818		2020	4161	6181	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401818G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3582C>T	9.37:g.139401818G>A		HNSCC(8;0.001)					p.N1194N	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	22	3657	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1194			EGF-like 31; calcium-binding (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.3582C>T	CCDS43905.1																																																																																				0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	37	0	0	0	0.150653	0	4	37				
OR2A25	392138	broad.mit.edu	37	7	143771567	143771567	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:143771567G>A	ENST00000408898.2	+	1	293	c.255G>A	c.(253-255)ctG>ctA	p.L85L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L85L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGAACCTCCTGCATCCAGCCA	0.552																																						ENST00000408898.2																			1	Substitution - coding silent(1)	p.L85L(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(253-255)ctG>ctA		olfactory receptor, family 2, subfamily A, member 25							76.0	81.0	79.0					7																	143771567		2203	4300	6503	SO:0001819	synonymous_variant	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771567G>A		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.255G>A	7.37:g.143771567G>A							p.L85L	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	293	+	Melanoma(164;0.0783)		85					B2RNC9	Silent	SNP	ENST00000408898.2	37	c.255G>A	CCDS43669.1																																																																																				0.552	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			7	122	0	0	0	0.278610	0	7	122				
KCNG2	26251	broad.mit.edu	37	18	77623902	77623902	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:77623902C>T	ENST00000316249.3	+	1	235	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	79					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GTGCGCCTTCCGCGCCATCGT	0.711																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(235-237)Cgc>Tgc		potassium voltage-gated channel, subfamily G, member 2							16.0	14.0	15.0					18																	77623902		2179	4278	6457	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623902C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.235C>T	18.37:g.77623902C>T	ENSP00000315654:p.Arg79Cys						p.R79C	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	235	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	79						Missense_Mutation	SNP	ENST00000316249.3	37	c.235C>T	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103125	0.37145	.	.	ENSG00000178342	ENST00000316249	T	0.78364	-1.17	3.77	2.74	0.32292	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.221994	0.33438	U	0.004908	D	0.86859	0.6034	M	0.89287	3.02	0.58432	D	0.999991	D	0.76494	0.999	D	0.65140	0.932	D	0.87274	0.2288	10	0.48119	T	0.1	.	10.2631	0.43438	0.373:0.627:0.0:0.0	.	79	Q9UJ96	KCNG2_HUMAN	C	79	ENSP00000315654:R79C	ENSP00000315654:R79C	R	+	1	0	KCNG2	75724890	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	1.434000	0.34958	1.676000	0.50930	0.478000	0.44815	CGC		0.711	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		4	14	0	0	0	0.150653	0	4	14				
RAI1	10743	broad.mit.edu	37	17	17701153	17701153	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:17701153G>A	ENST00000353383.1	+	3	5360	c.4891G>A	c.(4891-4893)Gcc>Acc	p.A1631T	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1631	Ser-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.A1631T(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		Ttcctcctctgcctcctcttc	0.637																																						ENST00000353383.1																			1	Substitution - Missense(1)	p.A1631T(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(4891-4893)Gcc>Acc		retinoic acid induced 1							89.0	97.0	94.0					17																	17701153		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17701153G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4891G>A	17.37:g.17701153G>A	ENSP00000323074:p.Ala1631Thr					RAI1_ENST00000261641.6_Intron	p.A1631T	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5360	+			1631			Ser-rich.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.4891G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	2.506	-0.314160	0.05422	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.65916	-0.18	4.26	-6.05	0.02172	.	1.201170	0.06034	N	0.653695	T	0.39937	0.1097	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18304	-1.0341	10	0.32370	T	0.25	.	4.7399	0.13007	0.4551:0.0:0.1606:0.3843	.	1631	Q7Z5J4	RAI1_HUMAN	T	1631;1631;1519	ENSP00000323074:A1631T	ENSP00000322928:A1519T	A	+	1	0	RAI1	17641878	0.001000	0.12720	0.003000	0.11579	0.283000	0.27025	0.004000	0.13106	-0.871000	0.04042	0.555000	0.69702	GCC		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		10	152	0	0	0	0.361761	0	10	152				
CAMTA1	23261	broad.mit.edu	37	1	7723412	7723412	+	Splice_Site	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:7723412G>T	ENST00000303635.7	+	9	1012		c.e9-1		CAMTA1_ENST00000439411.2_Splice_Site	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GATCTCCGCAGGAGCTGGCGG	0.607			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		1	Unknown(1)	p.?(1)	prostate(1)	breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.e9-1		calmodulin binding transcription activator 1							114.0	113.0	114.0					1																	7723412		2203	4300	6503	SO:0001630	splice_region_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7723412G>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.806-1G>T	1.37:g.7723412G>T						CAMTA1_ENST00000439411.2_Splice_Site		NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1012	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)						A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Splice_Site	SNP	ENST00000303635.7	37		CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288625	0.40494	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0692	0.89400	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAMTA1	7645999	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	9.760000	0.98935	2.271000	0.75665	0.549000	0.68633	.		0.607	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	Intron	52	246	1	0	7.71302e-15	0.870114	8.67193e-15	52	246				
MSI2	124540	broad.mit.edu	37	17	55339544	55339544	+	Silent	SNP	G	G	A	rs574167789		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:55339544G>A	ENST00000284073.2	+	5	512	c.303G>A	c.(301-303)gcG>gcA	p.A101A	MSI2_ENST00000416426.2_Silent_p.A79A|MSI2_ENST00000322684.3_Silent_p.A97A	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	101	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.A101A(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CTCGTCGAGCGCAACCCAAGG	0.368			T	HOXA9	CML								G|||	1	0.000199681	0.0	0.0014	5008	,	,		20949	0.0		0.0	False		,,,				2504	0.0					ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		1	Substitution - coding silent(1)	p.A101A(1)	prostate(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(301-303)gcG>gcA		musashi RNA-binding protein 2							103.0	96.0	99.0					17																	55339544		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55339544G>A	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.303G>A	17.37:g.55339544G>A						MSI2_ENST00000416426.2_Silent_p.A79A|MSI2_ENST00000322684.3_Silent_p.A97A	p.A101A	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	5	512	+	Breast(9;1.78e-08)		101			RRM 1.		Q7Z6M7|Q8N9T4	Silent	SNP	ENST00000284073.2	37	c.303G>A	CCDS11596.1																																																																																				0.368	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			12	148	0	0	0	0.435327	0	12	148				
FILIP1	27145	broad.mit.edu	37	6	76022502	76022502	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:76022502C>T	ENST00000237172.7	-	5	3376	c.3046G>A	c.(3046-3048)Gca>Aca	p.A1016T	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.A1016T|FILIP1_ENST00000370020.1_Missense_Mutation_p.A917T	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1016								p.A1016T(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCTGGTGCTGCTGATGTAGAC	0.488																																						ENST00000393004.2																			1	Substitution - Missense(1)	p.A1016T(1)	prostate(1)	breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3046-3048)Gca>Aca		filamin A interacting protein 1							140.0	139.0	139.0					6																	76022502		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022502C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3046G>A	6.37:g.76022502C>T	ENSP00000237172:p.Ala1016Thr					FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.A1016T|FILIP1_ENST00000370020.1_Missense_Mutation_p.A917T	p.A1016T			Q7Z7B0	FLIP1_HUMAN			5	3267	-			1016					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3046G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951178	0.53186	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.17528	2.27;2.27;2.27	6.03	6.03	0.97812	.	0.104145	0.64402	D	0.000003	T	0.08582	0.0213	L	0.38531	1.155	0.58432	D	0.999997	B;B;B	0.26672	0.156;0.006;0.011	B;B;B	0.23852	0.049;0.016;0.037	T	0.17471	-1.0368	10	0.19147	T	0.46	-15.3145	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1016;1016;1016	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	T	1016;1016;917	ENSP00000376728:A1016T;ENSP00000237172:A1016T;ENSP00000359037:A917T	ENSP00000237172:A1016T	A	-	1	0	FILIP1	76079222	0.716000	0.27956	0.777000	0.31699	0.978000	0.69477	1.493000	0.35605	2.861000	0.98227	0.655000	0.94253	GCA		0.488	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		27	187	0	0	0	0.717897	0	27	187				
USP6	9098	broad.mit.edu	37	17	5033903	5033903	+	Nonsense_Mutation	SNP	C	C	T	rs142168522	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:5033903C>T	ENST00000574788.1	+	11	2309	c.79C>T	c.(79-81)Cga>Tga	p.R27*	USP6_ENST00000332776.4_Nonsense_Mutation_p.R27*|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000572429.1_Intron|USP6_ENST00000250066.6_Nonsense_Mutation_p.R27*			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	27					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.R27*(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAGGGACACCGAGCTGGGCT	0.597			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								C|||	4	0.000798722	0.0	0.0	5008	,	,		19365	0.0		0.0	False		,,,				2504	0.0041					ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		2	Substitution - Nonsense(2)	p.R27*(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(79-81)Cga>Tga		ubiquitin specific peptidase 6 (Tre-2 oncogene)		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	120.0	116.0		79	0.1	0.2	17	dbSNP_134	116	0,8600		0,0,4300	no	stop-gained	USP6	NM_004505.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		27/1407	5033903	1,13005	2203	4300	6503	SO:0001587	stop_gained	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5033903C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.79C>T	17.37:g.5033903C>T	ENSP00000460380:p.Arg27*					USP6_ENST00000304328.5_5'UTR|USP6_ENST00000572429.1_Intron|USP6_ENST00000332776.4_Nonsense_Mutation_p.R27*|USP6_ENST00000250066.6_Nonsense_Mutation_p.R27*	p.R27*			P35125	UBP6_HUMAN			11	2309	+			27					Q15634|Q86WP6|Q8IWT4	Nonsense_Mutation	SNP	ENST00000574788.1	37	c.79C>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	48	13.907112	0.99769	2.27E-4	0.0	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000396805;ENST00000357482	.	.	.	0.0465	0.0465	0.14256	.	0.172806	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	27	.	ENSP00000250066:R27X	R	+	1	2	USP6	4974627	0.977000	0.34250	0.160000	0.22671	0.162000	0.22319	-0.528000	0.06193	0.132000	0.18615	0.134000	0.15878	CGA		0.597	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		21	162	0	0	0	0.639603	0	21	162				
PTK7	5754	broad.mit.edu	37	6	43126631	43126631	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:43126631C>T	ENST00000230419.4	+	18	3019	c.2798C>T	c.(2797-2799)gCg>gTg	p.A933V	PTK7_ENST00000481273.1_Missense_Mutation_p.A941V|PTK7_ENST00000352931.2_Missense_Mutation_p.A877V|PTK7_ENST00000345201.2_Missense_Mutation_p.A893V|PTK7_ENST00000349241.2_Missense_Mutation_p.A803V	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	933	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.		A -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A933V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GACTTGGCTGCGCGTAACTGC	0.587																																						ENST00000230419.4																			1	Substitution - Missense(1)	p.A933V(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2797-2799)gCg>gTg		protein tyrosine kinase 7							81.0	69.0	73.0					6																	43126631		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43126631C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2798C>T	6.37:g.43126631C>T	ENSP00000230419:p.Ala933Val					PTK7_ENST00000481273.1_Missense_Mutation_p.A941V|PTK7_ENST00000352931.2_Missense_Mutation_p.A877V|PTK7_ENST00000345201.2_Missense_Mutation_p.A893V|PTK7_ENST00000349241.2_Missense_Mutation_p.A803V	p.A933V	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		18	3019	+			933		A -> V (in a colorectal adenocarcinoma sample; somatic mutation).	Interaction with CTNNB1.|Protein kinase; inactive.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.2798C>T	CCDS4884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.571123|5.571123	0.96553|0.96553	.|.	.|.	ENSG00000112655|ENSG00000112655	ENST00000230419;ENST00000325774;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000473339|ENST00000489707	D;D;D;D;D;D|.	0.90069|.	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.056753|.	0.64402|.	D|.	0.000001|.	D|D	0.85141|0.85141	0.5629|0.5629	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	D;P;D;D;D;D|.	0.71674|.	0.998;0.758;0.989;0.994;0.971;0.997|.	D;B;P;P;P;D|.	0.65874|.	0.939;0.153;0.896;0.799;0.758;0.922|.	D|D	0.86955|0.86955	0.2088|0.2088	10|5	0.87932|.	D|.	0|.	.|.	20.3465|20.3465	0.98790|0.98790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	941;259;803;893;877;933|.	E9PFZ5;F8W9X8;Q13308-3;Q13308-2;Q13308-4;Q13308|.	.;.;.;.;.;PTK7_HUMAN|.	V|C	933;259;803;877;893;941;201|228	ENSP00000230419:A933V;ENSP00000325462:A803V;ENSP00000326029:A877V;ENSP00000325992:A893V;ENSP00000418754:A941V;ENSP00000420186:A201V|.	ENSP00000230419:A933V|.	A|R	+|+	2|1	0|0	PTK7|PTK7	43234609|43234609	1.000000|1.000000	0.71417|0.71417	0.069000|0.069000	0.20011|0.20011	0.884000|0.884000	0.51177|0.51177	7.775000|7.775000	0.85489|0.85489	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.587	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			4	60	0	0	0	0.150653	0	4	60				
GABRR1	2569	broad.mit.edu	37	6	89891738	89891738	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:89891738G>A	ENST00000454853.2	-	8	945	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	GABRR1_ENST00000369451.3_Missense_Mutation_p.R192C|GABRR1_ENST00000435811.1_Missense_Mutation_p.R262C	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	279					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R279C(1)|p.R273C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AAGATGTGGCGACGCAACGTG	0.488																																						ENST00000435811.1																			2	Substitution - Missense(2)	p.R279C(1)|p.R273C(1)	prostate(2)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(784-786)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						173.0	156.0	162.0					6																	89891738		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89891738G>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.835C>T	6.37:g.89891738G>A	ENSP00000412673:p.Arg279Cys					GABRR1_ENST00000369451.3_Missense_Mutation_p.R192C|GABRR1_ENST00000454853.2_Missense_Mutation_p.R279C	p.R262C	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	7	1238	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	279					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.784C>T	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550762	0.86127	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.96830	-4.14;-4.14;-4.14	5.37	5.37	0.77165	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99679	1.0998	9	.	.	.	-21.261	19.1046	0.93290	0.0:0.0:1.0:0.0	.	262;279	P24046-2;P24046	.;GBRR1_HUMAN	C	279;262;192;192	ENSP00000412673:R279C;ENSP00000394687:R262C;ENSP00000358463:R192C	.	R	-	1	0	GABRR1	89948457	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	6.637000	0.74304	2.509000	0.84616	0.467000	0.42956	CGC		0.488	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			11	167	0	0	0	0.387290	0	11	167				
BOD1L1	259282	broad.mit.edu	37	4	13604158	13604158	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:13604158T>C	ENST00000040738.5	-	10	4501	c.4366A>G	c.(4366-4368)Aaa>Gaa	p.K1456E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1456						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1456E(1)									TGCTTAAGTTTGACAGTTTCA	0.383																																						ENST00000040738.5																			1	Substitution - Missense(1)	p.K1456E(1)	prostate(1)								c.(4366-4368)Aaa>Gaa		biorientation of chromosomes in cell division 1-like 1							91.0	78.0	83.0					4																	13604158		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604158T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4366A>G	4.37:g.13604158T>C	ENSP00000040738:p.Lys1456Glu						p.K1456E	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	4501	-			1456					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.4366A>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	0.089	-1.171052	0.01660	.	.	ENSG00000038219	ENST00000040738	T	0.06142	3.34	5.37	0.291	0.15732	.	1.235580	0.05810	N	0.613862	T	0.01905	0.0060	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40979	-0.9534	10	0.02654	T	1	-0.4281	1.8741	0.03214	0.1235:0.2333:0.3626:0.2807	.	1456	Q8NFC6	BOD1L_HUMAN	E	1456	ENSP00000040738:K1456E	ENSP00000040738:K1456E	K	-	1	0	BOD1L	13213256	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.463000	0.06696	-0.317000	0.08677	-1.367000	0.01198	AAA		0.383	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		11	62	0	0	0	0.361761	0	11	62				
DHRSX	207063	broad.mit.edu	37	X	2139237	2139237	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:2139237C>T	ENST00000334651.5	-	7	890	c.838G>A	c.(838-840)Gca>Aca	p.A280T		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	280							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTGACTGCTGCGTAGATGGAA	0.517													.|||	1	0.000199681	0.0	0.0	5008	,	,		21227	0.0		0.001	False		,,,				2504	0.0					ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(838-840)Gca>Aca		dehydrogenase/reductase (SDR family) X-linked							213.0	189.0	197.0					X																	2139237		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2139237C>T	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.838G>A	X.37:g.2139237C>T	ENSP00000334113:p.Ala280Thr						p.A280T	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			7	890	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	280					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.838G>A	CCDS35195.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	12.87	2.066335	0.36470	.	.	ENSG00000169084	ENST00000334651	T	0.63744	-0.06	2.32	2.32	0.28847	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000005	T	0.79986	0.4541	M	0.89785	3.06	0.18873	N	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.70536	-0.4845	10	0.41790	T	0.15	.	11.6281	0.51158	0.0:1.0:0.0:0.0	.	280	Q8N5I4	DHRSX_HUMAN	T	280	ENSP00000334113:A280T	ENSP00000334113:A280T	A	-	1	0	DHRSX	2149237	1.000000	0.71417	0.005000	0.12908	0.018000	0.09664	3.943000	0.56621	0.956000	0.37904	0.124000	0.15798	GCA		0.517	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		5	185	0	0	0	0.217242	0	5	185				
LOC151174	151174	broad.mit.edu	37	2	239141044	239141044	+	5'Flank	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:239141044G>A	ENST00000409070.1	-	0	0				AC016757.3_ENST00000470346.1_5'Flank|AC016757.3_ENST00000409376.1_5'Flank|AC096574.4_ENST00000456601.1_RNA|AC016757.3_ENST00000409942.1_5'Flank|AC016757.3_ENST00000334973.4_5'Flank																							TCCCCAAGCCGTTCAGGGCCT	0.512																																						ENST00000456601.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr2:239141044G>A																													2.37:g.239141044G>A	Exception_encountered													0	720	+									RNA	SNP	ENST00000409070.1	37																																																																																						0.512	AC016757.3-006	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000328480.1			5	110	0	0	0	0.217242	0	5	110				
GALNT11	63917	broad.mit.edu	37	7	151798006	151798006	+	Splice_Site	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:151798006C>T	ENST00000434507.1	+	5	856	c.419C>T	c.(418-420)gCa>gTa	p.A140V	GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000320311.2_Splice_Site_p.A140V|GALNT11_ENST00000430044.2_Splice_Site_p.A140V|GALNT11_ENST00000415421.1_Splice_Site_p.A140V|GALNT11_ENST00000452146.2_Splice_Site_p.A59V			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	140					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGGAATGCAGCGTATGTGCCT	0.443																																						ENST00000434507.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27						c.e5+1		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)							161.0	141.0	148.0					7																	151798006		2203	4300	6503	SO:0001630	splice_region_variant	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151798006C>T	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.419+1C>T	7.37:g.151798006C>T						GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000415421.1_Splice_Site_p.A140_splice|GALNT11_ENST00000320311.2_Splice_Site_p.A140_splice|GALNT11_ENST00000452146.2_Splice_Site_p.A59_splice|GALNT11_ENST00000430044.2_Splice_Site_p.A140_splice	p.A140_splice			Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	5	856	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	140					B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Splice_Site	SNP	ENST00000434507.1	37	c.419_splice	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562189	0.27915	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000423337;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245;ENST00000447796	T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.94;0.3;0.3;0.3;0.3;0.95	5.06	-0.265	0.12946	.	0.503297	0.22270	N	0.062272	T	0.34600	0.0903	N	0.25286	0.73	0.80722	D	1	B;B;B	0.14438	0.0;0.01;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.05632	-1.0873	10	0.30078	T	0.28	.	5.5889	0.17289	0.5592:0.2611:0.0:0.1797	.	59;140;140	B7Z5G5;Q8NCW6-2;Q8NCW6	.;.;GLT11_HUMAN	V	140;59;140;131;140;140;140;140;140	ENSP00000395122:A140V;ENSP00000393399:A59V;ENSP00000393892:A131V;ENSP00000416787:A140V;ENSP00000410093:A140V;ENSP00000315835:A140V;ENSP00000397581:A140V;ENSP00000412142:A140V	ENSP00000315835:A140V	A	+	2	0	GALNT11	151428939	1.000000	0.71417	0.886000	0.34754	0.672000	0.39443	1.889000	0.39718	0.484000	0.27630	0.655000	0.94253	GCA		0.443	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087	Missense_Mutation	6	178	0	0	0	0.307466	0	6	178				
LAMA1	284217	broad.mit.edu	37	18	7007238	7007238	+	Missense_Mutation	SNP	G	G	A	rs138028986		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:7007238G>A	ENST00000389658.3	-	29	4253	c.4160C>T	c.(4159-4161)gCa>gTa	p.A1387V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1387	Laminin EGF-like 14; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GTCACTCCCTGCTGGGAGCTT	0.557																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(4159-4161)gCa>gTa		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	VAL/ALA	0,4406		0,0,2203	63.0	54.0	57.0		4160	3.5	0.4	18	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMA1	NM_005559.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1387/3076	7007238	1,13005	2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7007238G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4160C>T	18.37:g.7007238G>A	ENSP00000374309:p.Ala1387Val						p.A1387V	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			29	4253	-		Colorectal(10;0.172)	1387			Laminin EGF-like 14; second part.			Missense_Mutation	SNP	ENST00000389658.3	37	c.4160C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236146	0.22626	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.18016	2.24	5.83	3.47	0.39725	.	0.893846	0.09795	N	0.754866	T	0.08670	0.0215	N	0.03608	-0.345	0.23685	N	0.99711	B	0.33000	0.393	B	0.35971	0.215	T	0.40175	-0.9577	10	0.30854	T	0.27	.	7.8131	0.29243	0.0:0.0728:0.1623:0.7649	.	1387	P25391	LAMA1_HUMAN	V	1387	ENSP00000374309:A1387V	ENSP00000374309:A1387V	A	-	2	0	LAMA1	6997238	0.015000	0.18098	0.366000	0.25914	0.133000	0.20885	0.848000	0.27710	0.473000	0.27368	-0.274000	0.10170	GCA		0.557	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		4	49	0	0	0	0.150653	0	4	49				
ZNF394	84124	broad.mit.edu	37	7	99097377	99097377	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:99097377T>C	ENST00000337673.6	-	1	543	c.340A>G	c.(340-342)Acc>Gcc	p.T114A	ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.T114A	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	114	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGCAGGATGGTGAGGAACTGC	0.677																																					Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(340-342)Acc>Gcc		zinc finger protein 394							65.0	69.0	68.0					7																	99097377		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99097377T>C	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.340A>G	7.37:g.99097377T>C	ENSP00000337363:p.Thr114Ala					ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF394_ENST00000426306.2_Missense_Mutation_p.T114A	p.T114A	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			1	543	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		114			SCAN box.		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.340A>G	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.548063	0.45383	.	.	ENSG00000160908	ENST00000337673;ENST00000426306	T;T	0.04317	3.65;3.65	3.98	2.82	0.32997	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.547039	0.16881	N	0.195684	T	0.06690	0.0171	M	0.66378	2.025	0.25247	N	0.989703	B;B	0.12630	0.006;0.002	B;B	0.19148	0.009;0.024	T	0.21793	-1.0235	10	0.46703	T	0.11	.	6.237	0.20768	0.0:0.1128:0.0:0.8872	.	114;114	Q05DA6;Q53GI3	.;ZN394_HUMAN	A	114	ENSP00000337363:T114A;ENSP00000409565:T114A	ENSP00000337363:T114A	T	-	1	0	ZNF394	98935313	0.050000	0.20438	0.930000	0.37139	0.981000	0.71138	0.659000	0.24994	0.873000	0.35799	0.459000	0.35465	ACC		0.677	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		5	217	0	0	0	0.248553	0	5	217				
GABRA4	2557	broad.mit.edu	37	4	46930324	46930324	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:46930324A>G	ENST00000264318.3	-	9	2565	c.1583T>C	c.(1582-1584)gTc>gCc	p.V528A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	528					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CCCAAATGTGACTGGAAAGAG	0.408																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1582-1584)gTc>gCc		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						93.0	94.0	93.0					4																	46930324		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930324A>G		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1583T>C	4.37:g.46930324A>G	ENSP00000264318:p.Val528Ala						p.V528A	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			9	2565	-			528					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1583T>C	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	A	32	5.161134	0.94727	.	.	ENSG00000109158	ENST00000264318	D	0.86562	-2.14	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.89866	0.6839	L	0.43152	1.355	0.46927	D	0.999256	D	0.58268	0.982	P	0.60949	0.881	D	0.90595	0.4540	10	0.62326	D	0.03	.	15.3777	0.74625	1.0:0.0:0.0:0.0	.	528	P48169	GBRA4_HUMAN	A	528	ENSP00000264318:V528A	ENSP00000264318:V528A	V	-	2	0	GABRA4	46625081	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.233000	0.95337	2.232000	0.73038	0.528000	0.53228	GTC		0.408	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			8	188	0	0	0	0.278610	0	8	188				
NOP2	4839	broad.mit.edu	37	12	6669363	6669363	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:6669363G>A	ENST00000322166.5	-	15	1811	c.1690C>T	c.(1690-1692)Cgt>Tgt	p.R564C	NOP2_ENST00000382421.3_Missense_Mutation_p.R597C|NOP2_ENST00000537442.1_Missense_Mutation_p.R564C|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000399466.2_Missense_Mutation_p.R560C|NOP2_ENST00000545200.1_Missense_Mutation_p.R560C|NOP2_ENST00000541778.1_Missense_Mutation_p.R560C	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	564					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CGGGTAGAACGCAGACTGGGG	0.512																																						ENST00000541778.1																			0				breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1678-1680)Cgt>Tgt		NOP2 nucleolar protein							85.0	88.0	87.0					12																	6669363		1907	4135	6042	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6669363G>A		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1690C>T	12.37:g.6669363G>A	ENSP00000313272:p.Arg564Cys					NOP2_ENST00000322166.5_Missense_Mutation_p.R564C|NOP2_ENST00000545200.1_Missense_Mutation_p.R560C|NOP2_ENST00000537442.1_Missense_Mutation_p.R564C|NOP2_ENST00000399466.2_Missense_Mutation_p.R560C|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000382421.3_Missense_Mutation_p.R597C	p.R560C			P46087	NOP2_HUMAN			15	2166	-			564					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.1678C>T	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993192	0.35131	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	4.95	4.95	0.65309	.	0.427450	0.26055	N	0.026609	T	0.28001	0.0690	L	0.58810	1.83	0.80722	D	1	P;P	0.38395	0.629;0.587	B;B	0.37346	0.159;0.247	T	0.08289	-1.0729	10	0.72032	D	0.01	-11.7561	13.1847	0.59673	0.0:0.0:0.8011:0.1989	.	560;560	Q05BA7;P46087-2	.;.	C	564;597;560;560;564;560	ENSP00000444437:R564C;ENSP00000371858:R597C;ENSP00000439422:R560C;ENSP00000382392:R560C;ENSP00000313272:R564C;ENSP00000443150:R560C	ENSP00000313272:R564C	R	-	1	0	NOP2	6539624	1.000000	0.71417	0.998000	0.56505	0.589000	0.36550	3.642000	0.54367	2.569000	0.86673	0.655000	0.94253	CGT		0.512	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		8	110	0	0	0	0.278610	0	8	110				
DISC1	27185	broad.mit.edu	37	1	231830155	231830155	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:231830155T>C	ENST00000602281.1	+	2	704	c.651T>C	c.(649-651)ctT>ctC	p.L217L	DISC1_ENST00000439617.2_Silent_p.L217L|DISC1_ENST00000539444.1_Silent_p.L217L|DISC1_ENST00000535983.1_Silent_p.L217L|DISC1_ENST00000602873.1_Intron|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366636.4_Silent_p.L217L|DISC1_ENST00000537876.1_Silent_p.L217L|DISC1_ENST00000317586.4_Silent_p.L217L|DISC1_ENST00000366633.3_Silent_p.L217L|DISC1_ENST00000366637.3_5'UTR	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	217	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCTCTCGCTTGGCTCTGCCG	0.617																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(649-651)ctT>ctC		disrupted in schizophrenia 1							48.0	47.0	48.0					1																	231830155		2203	4300	6503	SO:0001819	synonymous_variant	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231830155T>C	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.651T>C	1.37:g.231830155T>C						DISC1_ENST00000317586.4_Silent_p.L217L|DISC1_ENST00000539444.1_Silent_p.L217L|DISC1_ENST00000602281.1_Silent_p.L217L|DISC1_ENST00000366636.4_Silent_p.L217L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Silent_p.L217L|DISC1_ENST00000366633.3_Silent_p.L217L|DISC1_ENST00000537876.1_Silent_p.L217L|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron	p.L217L	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			2	704	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	217			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	ENST00000602281.1	37	c.651T>C	CCDS59205.1																																																																																				0.617	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		10	87	0	0	0	0.335167	0	10	87				
ST6GAL1	6480	broad.mit.edu	37	3	186793469	186793469	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:186793469G>T	ENST00000169298.3	+	8	1773	c.1099G>T	c.(1099-1101)Ggt>Tgt	p.G367C	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.G136C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G367C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	367					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CTGCACGATGGGTGCCTACCA	0.517																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1099-1101)Ggt>Tgt		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							118.0	102.0	107.0					3																	186793469		2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186793469G>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1099G>T	3.37:g.186793469G>T	ENSP00000169298:p.Gly367Cys					ST6GAL1_ENST00000457772.2_Missense_Mutation_p.G136C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G367C	p.G367C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	8	1773	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		367					A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.1099G>T	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705674	0.89018	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044	T;T;T	0.31247	1.5;1.5;1.5	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75274	-0.3375	10	0.87932	D	0	-25.8397	17.8009	0.88586	0.0:0.0:1.0:0.0	.	367	P15907	SIAT1_HUMAN	C	367;136;367	ENSP00000169298:G367C;ENSP00000412221:G136C;ENSP00000389337:G367C	ENSP00000169298:G367C	G	+	1	0	ST6GAL1	188276163	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	9.796000	0.99103	2.884000	0.98904	0.655000	0.94253	GGT		0.517	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		5	65	1	0	0.0215528	0.217242	0.0220836	5	65				
SIDT2	51092	broad.mit.edu	37	11	117060951	117060951	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:117060951G>A	ENST00000324225.4	+	17	2094	c.1563G>A	c.(1561-1563)ctG>ctA	p.L521L	SIDT2_ENST00000532062.1_5'Flank|SIDT2_ENST00000431081.2_Silent_p.L518L	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	521					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCATCATCCTGCAACGGGAGA	0.602																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1561-1563)ctG>ctA		SID1 transmembrane family, member 2							148.0	137.0	141.0					11																	117060951		2201	4296	6497	SO:0001819	synonymous_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117060951G>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1563G>A	11.37:g.117060951G>A						SIDT2_ENST00000431081.2_Silent_p.L518L	p.L521L	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	17	2094	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	521					Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	c.1563G>A	CCDS31682.1																																																																																				0.602	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		5	183	0	0	0	0.217242	0	5	183				
BEND3	57673	broad.mit.edu	37	6	107390676	107390676	+	Silent	SNP	G	G	A	rs370245100		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:107390676G>A	ENST00000369042.1	-	4	1909	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	BEND3_ENST00000429433.2_Silent_p.F573F			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	573	BEN 3. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGCGCGAGGCGAAGTTGCCGA	0.637																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1717-1719)ttC>ttT		BEN domain containing 3							54.0	53.0	53.0					6																	107390676		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107390676G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1719C>T	6.37:g.107390676G>A						BEND3_ENST00000369042.1_Silent_p.F573F	p.F573F	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2368	-			573			BEN 3.		A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.1719C>T	CCDS34507.1																																																																																				0.637	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		7	143	0	0	0	0.278610	0	7	143				
VKORC1L1	154807	broad.mit.edu	37	7	65419190	65419190	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:65419190C>T	ENST00000360768.3	+	3	539	c.434C>T	c.(433-435)aCg>aTg	p.T145M	VKORC1L1_ENST00000434382.2_Silent_p.H108H	NM_001284342.1|NM_173517.4	NP_001271271.1|NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	145					cellular response to oxidative stress (GO:0034599)|peptidyl-glutamic acid carboxylation (GO:0017187)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.H108H(1)|p.T145M(1)		large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)	TGCATCGTCACGTACGTGCTG	0.512																																						ENST00000360768.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.H108H(1)|p.T145M(1)	prostate(2)	large_intestine(1)|prostate(1)	2						c.(433-435)aCg>aTg		vitamin K epoxide reductase complex, subunit 1-like 1	Menadione(DB00170)|Warfarin(DB00682)						188.0	143.0	158.0					7																	65419190		2203	4300	6503	SO:0001583	missense	154807					integral to membrane		g.chr7:65419190C>T		CCDS5529.1, CCDS64663.1	7q11.21	2013-10-07			ENSG00000196715	ENSG00000196715			21492	protein-coding gene	gene with protein product		608838				23928358	Standard	NM_001284342		Approved		uc003tul.3	Q8N0U8	OTTHUMG00000129449	ENST00000360768.3:c.434C>T	7.37:g.65419190C>T	ENSP00000353998:p.Thr145Met					VKORC1L1_ENST00000434382.2_Silent_p.H108H	p.T145M	NM_173517.3	NP_775788.2	Q8N0U8	VKORL_HUMAN			3	539	+		Lung NSC(55;0.197)	145					B4E222|E7ETM5|Q6AHW9|Q6TEK6	Missense_Mutation	SNP	ENST00000360768.3	37	c.434C>T	CCDS5529.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166177	0.78339	.	.	ENSG00000196715	ENST00000360768	D	0.98150	-4.75	5.78	5.78	0.91487	Vitamin K epoxide reductase (2);	0.046984	0.85682	D	0.000000	D	0.98403	0.9469	M	0.69463	2.115	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	D	0.98982	1.0805	10	0.66056	D	0.02	.	19.3632	0.94451	0.0:1.0:0.0:0.0	.	145	Q8N0U8	VKORL_HUMAN	M	145	ENSP00000353998:T145M	ENSP00000353998:T145M	T	+	2	0	VKORC1L1	65056625	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.360000	0.79487	2.894000	0.99253	0.591000	0.81541	ACG		0.512	VKORC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251612.3	NM_173517		15	118	0	0	0	0.479597	0	15	118				
MRGPRX2	117194	broad.mit.edu	37	11	19076976	19076976	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:19076976G>A	ENST00000329773.2	-	2	1061	c.974C>T	c.(973-975)tCg>tTg	p.S325L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	325					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)	p.S325L(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ACTGCTTCTCGACATCTCCGG	0.537																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			1	Substitution - Missense(1)	p.S325L(1)	prostate(1)	NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(973-975)tCg>tTg		MAS-related GPR, member X2							61.0	62.0	61.0					11																	19076976		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19076976G>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.974C>T	11.37:g.19076976G>A	ENSP00000333800:p.Ser325Leu						p.S325L	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	1061	-			325					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.974C>T	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	12.02	1.813714	0.32053	.	.	ENSG00000183695	ENST00000329773	T	0.06371	3.31	3.88	-0.351	0.12602	.	1.363460	0.04968	N	0.463368	T	0.07954	0.0199	M	0.74647	2.275	0.09310	N	1	P	0.43826	0.818	B	0.36289	0.221	T	0.34502	-0.9826	10	0.72032	D	0.01	.	1.1432	0.01769	0.2073:0.1748:0.4386:0.1794	.	325	Q96LB1	MRGX2_HUMAN	L	325	ENSP00000333800:S325L	ENSP00000333800:S325L	S	-	2	0	MRGPRX2	19033552	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.196000	0.09532	-0.043000	0.13513	0.650000	0.86243	TCG		0.537	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		11	112	0	0	0	0.387290	0	11	112				
TIMELESS	8914	broad.mit.edu	37	12	56817644	56817644	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:56817644G>C	ENST00000553532.1	-	16	2053	c.1903C>G	c.(1903-1905)Caa>Gaa	p.Q635E	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.Q634E					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GAAATGTCTTGAGAGCCAAAC	0.473																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(1900-1902)Caa>Gaa		timeless circadian clock							119.0	113.0	115.0					12																	56817644		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56817644G>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1903C>G	12.37:g.56817644G>C	ENSP00000450607:p.Gln635Glu					TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.Q635E	p.Q634E	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			16	2054	-			635						Missense_Mutation	SNP	ENST00000553532.1	37	c.1900C>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	2.402	-0.337352	0.05278	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.05786	3.39;3.39	5.26	3.34	0.38264	.	0.547216	0.18633	N	0.135528	T	0.04227	0.0117	N	0.19112	0.55	0.80722	D	1	B	0.15473	0.013	B	0.13407	0.009	T	0.43048	-0.9415	10	0.18276	T	0.48	-0.2226	8.9307	0.35668	0.0801:0.4407:0.4791:0.0	.	635	Q9UNS1	TIM_HUMAN	E	634;635	ENSP00000229201:Q634E;ENSP00000450607:Q635E	ENSP00000229201:Q635E	Q	-	1	0	TIMELESS	55103911	0.994000	0.37717	1.000000	0.80357	0.980000	0.70556	1.003000	0.29809	0.658000	0.30925	0.561000	0.74099	CAA		0.473	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		4	133	0	0	0	0.184627	0	4	133				
AKAP11	11215	broad.mit.edu	37	13	42876768	42876768	+	Missense_Mutation	SNP	G	G	A	rs576236263		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:42876768G>A	ENST00000025301.2	+	8	4061	c.3886G>A	c.(3886-3888)Gaa>Aaa	p.E1296K		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1296					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGATGGTGACGAAGATTATAA	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		22307	0.001		0.0	False		,,,				2504	0.0					ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(3886-3888)Gaa>Aaa		A kinase (PRKA) anchor protein 11							70.0	71.0	71.0					13																	42876768		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876768G>A	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3886G>A	13.37:g.42876768G>A	ENSP00000025301:p.Glu1296Lys						p.E1296K	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4061	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1296					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.3886G>A	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	5.042	0.193416	0.09599	.	.	ENSG00000023516	ENST00000025301	T	0.39229	1.09	5.75	2.7	0.31948	.	1.349980	0.05163	N	0.498162	T	0.19685	0.0473	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24977	-1.0145	10	0.14656	T	0.56	.	5.0779	0.14642	0.383:0.4465:0.0938:0.0767	.	1296	Q9UKA4	AKA11_HUMAN	K	1296	ENSP00000025301:E1296K	ENSP00000025301:E1296K	E	+	1	0	AKAP11	41774768	0.000000	0.05858	0.008000	0.14137	0.031000	0.12232	-0.023000	0.12456	0.339000	0.23719	-0.729000	0.03580	GAA		0.388	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		4	97	0	0	0	0.184627	0	4	97				
COL6A3	1293	broad.mit.edu	37	2	238274526	238274526	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:238274526C>T	ENST00000295550.4	-	12	6105	c.5653G>A	c.(5653-5655)Gtg>Atg	p.V1885M	COL6A3_ENST00000409809.1_Missense_Mutation_p.V1679M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1685M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1679M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1684M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V1278M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1885	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1885M(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACACACGCACGGTGGGCGAG	0.612																																						ENST00000295550.4																			1	Substitution - Missense(1)	p.V1885M(1)	prostate(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5653-5655)Gtg>Atg		collagen, type VI, alpha 3							66.0	67.0	67.0					2																	238274526		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274526C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5653G>A	2.37:g.238274526C>T	ENSP00000295550:p.Val1885Met					COL6A3_ENST00000346358.4_Missense_Mutation_p.V1685M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1679M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1684M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V1278M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1679M	p.V1885M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	12	6105	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1885			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5653G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	9.371	1.070505	0.20147	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.34	5.34	0.76211	von Willebrand factor, type A (2);	0.277746	0.24705	N	0.036271	T	0.66906	0.2837	M	0.74258	2.255	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.962;0.977;0.989	T	0.69011	-0.5258	10	0.66056	D	0.02	.	19.4237	0.94732	0.0:1.0:0.0:0.0	.	1278;1679;1885	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	M	1885;1684;1679;1278;1679;1685	ENSP00000295550:V1885M;ENSP00000315609:V1684M;ENSP00000315873:V1679M;ENSP00000418285:V1278M;ENSP00000386844:V1679M;ENSP00000295546:V1685M	ENSP00000295550:V1885M	V	-	1	0	COL6A3	237939265	0.996000	0.38824	0.960000	0.40013	0.029000	0.11900	3.423000	0.52756	2.665000	0.90641	0.655000	0.94253	GTG		0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		19	153	0	0	0	0.575678	0	19	153				
IGSF9B	22997	broad.mit.edu	37	11	133799647	133799647	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:133799647C>T	ENST00000321016.8	-	12	1780	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R517Q			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	517	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.R517Q(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GACCTGGACCCGGACACTGCC	0.597																																						ENST00000321016.8																			1	Substitution - Missense(1)	p.R517Q(1)	prostate(1)	breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1549-1551)cGg>cAg		immunoglobulin superfamily, member 9B							90.0	100.0	97.0					11																	133799647		2034	4169	6203	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133799647C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1550G>A	11.37:g.133799647C>T	ENSP00000317980:p.Arg517Gln					IGSF9B_ENST00000533871.2_Missense_Mutation_p.R517Q	p.R517Q			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	12	1780	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	517			Fibronectin type-III 1.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.1550G>A		.	.	.	.	.	.	.	.	.	.	C	18.07	3.541613	0.65085	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.56941	0.43;0.43;0.43	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38241	0.1033	N	0.21373	0.66	0.37423	D	0.913723	B	0.19935	0.04	B	0.25884	0.064	T	0.32929	-0.9888	9	0.15066	T	0.55	.	12.9003	0.58121	0.0:0.9155:0.0:0.0845	.	517	Q9UPX0	TUTLB_HUMAN	Q	517;359;517	ENSP00000317980:R517Q;ENSP00000436552:R359Q;ENSP00000436576:R517Q	ENSP00000317980:R517Q	R	-	2	0	IGSF9B	133304857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.339000	0.43965	2.505000	0.84491	0.655000	0.94253	CGG		0.597	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		9	106	0	0	0	0.387290	0	9	106				
ORAI2	80228	broad.mit.edu	37	7	102087010	102087010	+	Silent	SNP	G	G	A	rs555846728	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:102087010G>A	ENST00000356387.2	+	4	511	c.276G>A	c.(274-276)ccG>ccA	p.P92P	ORAI2_ENST00000473939.1_Silent_p.P92P|ORAI2_ENST00000478730.2_Silent_p.P92P|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.P92P	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	92						growth cone (GO:0030426)|integral component of membrane (GO:0016021)		p.P92P(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						ACCCGCGGCCGCTGCTGATTG	0.652													g|||	2	0.000399361	0.0015	0.0	5008	,	,		17619	0.0		0.0	False		,,,				2504	0.0					ENST00000356387.2																			1	Substitution - coding silent(1)	p.P92P(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(274-276)ccG>ccA		ORAI calcium release-activated calcium modulator 2							56.0	50.0	52.0					7																	102087010		2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087010G>A	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.276G>A	7.37:g.102087010G>A						ORAI2_ENST00000478730.1_Silent_p.P92P|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.P92P|ORAI2_ENST00000473939.1_Silent_p.P92P	p.P92P	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN			4	511	+			92					Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	c.276G>A	CCDS5722.1																																																																																				0.652	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		4	96	0	0	0	0.184627	0	4	96				
PCDHA4	56144	broad.mit.edu	37	5	140188641	140188641	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140188641C>T	ENST00000530339.1	+	1	1869	c.1869C>T	c.(1867-1869)cgC>cgT	p.R623R	PCDHA4_ENST00000356878.4_Silent_p.R623R|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.R623R|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	623	Cadherin 6. {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)	p.R623R(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGTTCCGCGTGGGGCTGT	0.672																																						ENST00000530339.1																			2	Substitution - coding silent(2)	p.R623R(2)	prostate(2)	breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1867-1869)cgC>cgT									90.0	89.0	89.0					5																	140188641		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140188641C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1869C>T	5.37:g.140188641C>T						PCDHA4_ENST00000356878.4_Silent_p.R623R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.R623R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R623R	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1869	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1869C>T	CCDS54916.1																																																																																				0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		9	199	0	0	0	0.361761	0	9	199				
PLB1	151056	broad.mit.edu	37	2	28761155	28761155	+	Intron	SNP	A	A	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:28761155A>C	ENST00000327757.5	+	10	599				PLB1_ENST00000422425.2_Silent_p.A186A	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1						glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.A186A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCCTGCAGGCACCCTCACTTA	0.627																																						ENST00000422425.2																			1	Substitution - coding silent(1)	p.A186A(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(556-558)gcA>gcC		phospholipase B1							47.0	43.0	44.0					2																	28761155		2203	4300	6503	SO:0001627	intron_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28761155A>C		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.556-31A>C	2.37:g.28761155A>C						PLB1_ENST00000327757.5_Intron	p.A186A	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			10	602	+	Acute lymphoblastic leukemia(172;0.155)		185			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	c.558A>C	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	A	9.422	1.083190	0.20309	.	.	ENSG00000163803	ENST00000404858	.	.	.	4.47	2.03	0.26663	.	.	.	.	.	T	0.23572	0.0570	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21552	-1.0242	4	.	.	.	.	2.7045	0.05158	0.5947:0.0:0.2129:0.1924	.	.	.	.	P	185	.	.	H	+	2	0	PLB1	28614659	0.000000	0.05858	0.026000	0.17262	0.176000	0.22953	-0.175000	0.09825	0.322000	0.23283	0.402000	0.26972	CAC		0.627	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			3	39	0	0	0	0.115264	0	3	39				
DIS3L	115752	broad.mit.edu	37	15	66618502	66618502	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:66618502C>T	ENST00000319212.4	+	12	2051	c.2001C>T	c.(1999-2001)caC>caT	p.H667H	DIS3L_ENST00000319194.5_Silent_p.H584H|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	667					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.H667H(1)|p.H584H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGAACATTCACGACCTCATCC	0.537																																						ENST00000319194.5																			2	Substitution - coding silent(2)	p.H667H(1)|p.H584H(1)	prostate(2)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1750-1752)caC>caT		DIS3 mitotic control homolog (S. cerevisiae)-like							87.0	80.0	82.0					15																	66618502		2201	4299	6500	SO:0001819	synonymous_variant	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66618502C>T		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2001C>T	15.37:g.66618502C>T						RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Silent_p.H667H	p.H584H	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			12	2013	+			667					Q8N1N8|Q8WTU9|Q96CM7	Silent	SNP	ENST00000319212.4	37	c.1752C>T	CCDS45286.1																																																																																				0.537	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		10	112	0	0	0	0.361761	0	10	112				
ALG2	85365	broad.mit.edu	37	9	101980873	101980873	+	Silent	SNP	G	G	A	rs201757938		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:101980873G>A	ENST00000476832.1	-	2	655	c.594C>T	c.(592-594)gtC>gtT	p.V198V	ALG2_ENST00000319033.6_Silent_p.V105V	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.V198V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				ATGGATAGAGGACATCAGGGT	0.468																																						ENST00000476832.1																			1	Substitution - coding silent(1)	p.V198V(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22						c.(592-594)gtC>gtT		ALG2, alpha-1,3/1,6-mannosyltransferase							118.0	119.0	118.0					9																	101980873		2203	4300	6503	SO:0001819	synonymous_variant	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101980873G>A	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.594C>T	9.37:g.101980873G>A						ALG2_ENST00000319033.6_Silent_p.V105V	p.V198V	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN			2	655	-		Acute lymphoblastic leukemia(62;0.0559)	198					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Silent	SNP	ENST00000476832.1	37	c.594C>T	CCDS6739.1																																																																																				0.468	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		13	118	0	0	0	0.520397	0	13	118				
BMP1	649	broad.mit.edu	37	8	22051965	22051965	+	Silent	SNP	C	C	T	rs538422794		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:22051965C>T	ENST00000306385.5	+	11	1975	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	BMP1_ENST00000306349.8_Silent_p.C435C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.C435C|BMP1_ENST00000397814.3_Silent_p.C435C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	435	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.C435C(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAGCCATCTGCGGGGGTGATG	0.587													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17389	0.0		0.0	False		,,,				2504	0.0					ENST00000306385.5																			1	Substitution - coding silent(1)	p.C435C(1)	prostate(1)	breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1303-1305)tgC>tgT		bone morphogenetic protein 1							69.0	68.0	68.0					8																	22051965		2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22051965C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1305C>T	8.37:g.22051965C>T						BMP1_ENST00000306349.8_Silent_p.C435C|BMP1_ENST00000397814.3_Silent_p.C435C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.C435C	p.C435C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	11	1975	+			435			CUB 2.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.1305C>T	CCDS6026.1																																																																																				0.587	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		7	64	0	0	0	0.307466	0	7	64				
ZNF462	58499	broad.mit.edu	37	9	109689585	109689585	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:109689585T>C	ENST00000277225.5	+	3	3681	c.3392T>C	c.(3391-3393)gTc>gCc	p.V1131A	ZNF462_ENST00000457913.1_Missense_Mutation_p.V1131A|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1131					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1131A(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GGAGTGCTTGTCCACTACCAG	0.532																																						ENST00000277225.5																			1	Substitution - Missense(1)	p.V1131A(1)	prostate(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3391-3393)gTc>gCc		zinc finger protein 462							93.0	97.0	95.0					9																	109689585		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689585T>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3392T>C	9.37:g.109689585T>C	ENSP00000277225:p.Val1131Ala					ZNF462_ENST00000457913.1_Missense_Mutation_p.V1131A	p.V1131A			Q96JM2	ZN462_HUMAN			3	3681	+			1131					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.3392T>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606799	0.66558	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686	T;T;T	0.10763	2.84;3.25;3.09	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.967	T	0.00878	-1.1530	10	0.33141	T	0.24	.	15.3692	0.74548	0.0:0.0:0.0:1.0	.	1131;1131	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	A	1131;1131;14	ENSP00000277225:V1131A;ENSP00000414570:V1131A;ENSP00000363818:V14A	ENSP00000277225:V1131A	V	+	2	0	ZNF462	108729406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.933000	0.87642	2.033000	0.60031	0.459000	0.35465	GTC		0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		16	238	0	0	0	0.575678	0	16	238				
SIRT4	23409	broad.mit.edu	37	12	120741830	120741830	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:120741830C>T	ENST00000202967.4	+	2	525	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1			sirtuin 4									p.R156C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGAGTCGGCGCCTGACAGA	0.567																																						ENST00000202967.4																			1	Substitution - Missense(1)	p.R156C(1)	haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(466-468)Cgc>Tgc		sirtuin 4							54.0	48.0	50.0					12																	120741830		2203	4300	6503	SO:0001583	missense	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120741830C>T	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.466C>T	12.37:g.120741830C>T	ENSP00000202967:p.Arg156Cys					SIRT4_ENST00000537892.1_3'UTR	p.R156C	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN			2	525	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		156			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000202967.4	37	c.466C>T	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086018	0.55861	.	.	ENSG00000089163	ENST00000536460;ENST00000202967	T;T	0.19669	2.13;2.13	5.42	4.53	0.55603	.	0.094927	0.64402	D	0.000002	T	0.29652	0.0740	M	0.85777	2.775	0.58432	D	0.999999	P	0.35793	0.521	B	0.28232	0.087	T	0.30563	-0.9974	10	0.52906	T	0.07	-29.5876	16.612	0.84885	0.0:0.8697:0.1302:0.0	.	156	Q9Y6E7	SIRT4_HUMAN	C	97;156	ENSP00000444838:R97C;ENSP00000202967:R156C	ENSP00000202967:R156C	R	+	1	0	SIRT4	119226213	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	2.787000	0.47798	1.422000	0.47177	-0.172000	0.13284	CGC		0.567	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		6	94	0	0	0	0.278610	0	6	94				
MYT1L	23040	broad.mit.edu	37	2	1926178	1926178	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:1926178C>T	ENST00000399161.2	-	10	2110	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E455K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	455					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E455K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCCCAGCTTCCATGGCCATC	0.532																																						ENST00000399161.2																			2	Substitution - Missense(2)	p.E455K(2)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1363-1365)Gaa>Aaa		myelin transcription factor 1-like							183.0	177.0	179.0					2																	1926178		2006	4158	6164	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926178C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1363G>A	2.37:g.1926178C>T	ENSP00000382114:p.Glu455Lys					MYT1L_ENST00000428368.2_Missense_Mutation_p.E455K	p.E455K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	2110	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	455					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1363G>A		.	.	.	.	.	.	.	.	.	.	C	18.10	3.549300	0.65311	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.50548	0.78;0.74	5.91	5.91	0.95273	.	0.095891	0.64402	D	0.000001	T	0.39489	0.1080	L	0.32530	0.975	0.58432	D	0.999999	P;P	0.42692	0.682;0.787	B;B	0.39379	0.156;0.298	T	0.13019	-1.0525	10	0.11182	T	0.66	-21.8558	20.2936	0.98544	0.0:1.0:0.0:0.0	.	455;455	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	K	455;403;455	ENSP00000382114:E455K;ENSP00000396103:E455K	ENSP00000295067:E403K	E	-	1	0	MYT1L	1905185	1.000000	0.71417	0.988000	0.46212	0.373000	0.29922	7.751000	0.85126	2.801000	0.96364	0.655000	0.94253	GAA		0.532	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		32	207	0	0	0	0.769981	0	32	207				
IGSF22	283284	broad.mit.edu	37	11	18735656	18735656	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:18735656G>T	ENST00000513874.1	-	14	1977	c.1838C>A	c.(1837-1839)gCt>gAt	p.A613D	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	613	Ig-like 4.							p.A613D(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGCGTGCGCAGCCAGTGCCTC	0.627																																						ENST00000513874.1																			2	Substitution - Missense(2)	p.A613D(2)	prostate(2)	NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1837-1839)gCt>gAt		immunoglobulin superfamily, member 22							60.0	64.0	63.0					11																	18735656		2129	4230	6359	SO:0001583	missense	283284							g.chr11:18735656G>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1838C>A	11.37:g.18735656G>T	ENSP00000421191:p.Ala613Asp					RP11-1081L13.4_ENST00000527285.1_RNA	p.A613D	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			14	1977	-			613			Ig-like 4.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1838C>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	9.629	1.135929	0.21123	.	.	ENSG00000179057	ENST00000513874	T	0.54071	0.59	4.11	4.11	0.48088	.	0.000000	0.36628	U	0.002481	T	0.51007	0.1649	N	0.14661	0.345	0.20196	N	0.999921	D	0.69078	0.997	D	0.67382	0.951	T	0.44360	-0.9333	10	0.14252	T	0.57	.	14.7175	0.69280	0.0:0.0:1.0:0.0	.	613	D6RGV7	.	D	613	ENSP00000421191:A613D	ENSP00000322422:A613D	A	-	2	0	IGSF22	18692232	0.011000	0.17503	0.651000	0.29564	0.273000	0.26683	1.702000	0.37836	2.138000	0.66242	0.551000	0.68910	GCT		0.627	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		6	121	1	0	0.0215528	0.217242	0.0220836	6	121				
PPP1R3B	79660	broad.mit.edu	37	8	8998482	8998482	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:8998482C>T	ENST00000310455.3	-	2	830	c.680G>A	c.(679-681)gGc>gAc	p.G227D	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.G227D|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	227	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)	p.G227D(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ATAGTTCTTGCCTCTGTTGCT	0.483																																						ENST00000310455.3																			2	Substitution - Missense(2)	p.G227D(2)	prostate(2)	endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(679-681)gGc>gAc		protein phosphatase 1, regulatory subunit 3B							204.0	187.0	193.0					8																	8998482		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998482C>T	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.680G>A	8.37:g.8998482C>T	ENSP00000308318:p.Gly227Asp					PPP1R3B_ENST00000519699.1_Missense_Mutation_p.G227D	p.G227D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	830	-			227			CBM21.		B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.680G>A	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676479	0.88445	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.66280	-0.2;-0.2	5.93	5.93	0.95920	Putative phosphatase regulatory subunit (2);	0.000000	0.85682	D	0.000000	D	0.82907	0.5139	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84325	0.0518	10	0.62326	D	0.03	-53.059	19.3319	0.94293	0.0:1.0:0.0:0.0	.	227	Q86XI6	PPR3B_HUMAN	D	227	ENSP00000308318:G227D;ENSP00000428642:G227D	ENSP00000308318:G227D	G	-	2	0	PPP1R3B	9035892	1.000000	0.71417	0.989000	0.46669	0.713000	0.41058	7.818000	0.86416	2.815000	0.96918	0.561000	0.74099	GGC		0.483	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		19	128	0	0	0	0.575678	0	19	128				
SARS	6301	broad.mit.edu	37	1	109772145	109772145	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:109772145G>A	ENST00000234677.2	+	4	473	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	SARS_ENST00000369923.4_Missense_Mutation_p.R133Q	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	133					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)	p.R133Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GAGAACCTCCGAGAGATTGGG	0.532																																						ENST00000369923.4																			1	Substitution - Missense(1)	p.R133Q(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17						c.(397-399)cGa>cAa		seryl-tRNA synthetase	L-Serine(DB00133)						196.0	193.0	194.0					1																	109772145		2203	4300	6503	SO:0001583	missense	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109772145G>A	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.398G>A	1.37:g.109772145G>A	ENSP00000234677:p.Arg133Gln					SARS_ENST00000234677.2_Missense_Mutation_p.R133Q	p.R133Q			P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	4	409	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	133					B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	c.398G>A	CCDS795.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185295	0.78677	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.42131	0.98;0.98	5.95	5.95	0.96441	tRNA-binding arm (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.82823	2.61	0.80722	D	1	D;P;D;D	0.60160	0.963;0.933;0.987;0.963	B;B;B;B	0.42062	0.374;0.374;0.374;0.374	T	0.45116	-0.9283	10	0.29301	T	0.29	-7.8747	19.9958	0.97383	0.0:0.0:1.0:0.0	.	133;133;133;133	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	Q	133	ENSP00000234677:R133Q;ENSP00000358939:R133Q	ENSP00000234677:R133Q	R	+	2	0	SARS	109573668	1.000000	0.71417	0.950000	0.38849	0.795000	0.44927	9.802000	0.99131	2.825000	0.97269	0.655000	0.94253	CGA		0.532	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		41	407	0	0	0	0.859065	0	41	407				
TLK1	9874	broad.mit.edu	37	2	171863509	171863509	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:171863509C>A	ENST00000431350.2	-	15	1885	c.1481G>T	c.(1480-1482)aGa>aTa	p.R494I	TLK1_ENST00000442919.2_Missense_Mutation_p.R446I|TLK1_ENST00000521943.1_Missense_Mutation_p.R446I|TLK1_ENST00000360843.3_Missense_Mutation_p.R515I|TLK1_ENST00000434911.2_Missense_Mutation_p.R398I			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	494	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTCTCATCTCTCCAGCTTTT	0.294																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1336-1338)aGa>aTa		tousled-like kinase 1							88.0	83.0	84.0					2																	171863509		2200	4295	6495	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171863509C>A	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1481G>T	2.37:g.171863509C>A	ENSP00000411099:p.Arg494Ile					TLK1_ENST00000360843.3_Missense_Mutation_p.R515I|TLK1_ENST00000521943.1_Missense_Mutation_p.R446I|TLK1_ENST00000434911.2_Missense_Mutation_p.R398I|TLK1_ENST00000431350.2_Missense_Mutation_p.R494I	p.R446I	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			15	1952	-			494					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.1337G>T	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722188	0.89298	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	L	0.39467	1.215	0.80722	D	1	P;P;D	0.57571	0.707;0.917;0.98	P;P;P	0.61070	0.61;0.614;0.883	T	0.74494	-0.3647	10	0.87932	D	0	.	18.616	0.91303	0.0:1.0:0.0:0.0	.	398;515;494	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	I	446;494;515;446;398	ENSP00000402165:R446I;ENSP00000411099:R494I;ENSP00000354089:R515I;ENSP00000428113:R446I;ENSP00000409222:R398I	ENSP00000354089:R515I	R	-	2	0	TLK1	171571755	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.815000	0.86186	2.481000	0.83766	0.454000	0.30748	AGA		0.294	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		6	60	1	0	3.59834e-05	0.217242	3.83823e-05	6	60				
SMPD3	55512	broad.mit.edu	37	16	68405352	68405352	+	Missense_Mutation	SNP	C	C	T	rs200081668		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:68405352C>T	ENST00000219334.5	-	3	1336	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	SMPD3_ENST00000563226.1_Missense_Mutation_p.V245M|SMPD3_ENST00000568373.1_Missense_Mutation_p.V245M|SMPD3_ENST00000566009.1_5'Flank	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	245					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.V245M(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCGATGCGCACGATGCAGGCA	0.726																																						ENST00000219334.5																			1	Substitution - Missense(1)	p.V245M(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(733-735)Gtg>Atg		sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	Phosphatidylserine(DB00144)						17.0	19.0	18.0					16																	68405352		2193	4288	6481	SO:0001583	missense	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68405352C>T	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.733G>A	16.37:g.68405352C>T	ENSP00000219334:p.Val245Met					SMPD3_ENST00000563226.1_Missense_Mutation_p.V245M|SMPD3_ENST00000568373.1_Missense_Mutation_p.V245M	p.V245M	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	1336	-		Ovarian(137;0.0563)	245					B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.733G>A	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663374	0.47572	.	.	ENSG00000103056	ENST00000219334	.	.	.	5.47	4.43	0.53597	.	0.461133	0.24554	N	0.037525	T	0.25344	0.0616	N	0.19112	0.55	0.34592	D	0.715587	D;D;D	0.56035	0.974;0.974;0.974	B;B;B	0.42692	0.395;0.395;0.395	T	0.29761	-1.0001	9	0.49607	T	0.09	-19.6989	5.022	0.14365	0.0:0.7532:0.0:0.2468	.	245;245;245	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	M	245	.	ENSP00000219334:V245M	V	-	1	0	SMPD3	66962853	0.891000	0.30450	0.975000	0.42487	0.124000	0.20399	1.529000	0.35996	2.563000	0.86464	0.561000	0.74099	GTG		0.726	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		8	51	0	0	0	0.307466	0	8	51				
GMIP	51291	broad.mit.edu	37	19	19748980	19748980	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:19748980C>A	ENST00000203556.4	-	9	914	c.777G>T	c.(775-777)gaG>gaT	p.E259D	GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.E259D|GMIP_ENST00000445806.2_Missense_Mutation_p.E259D	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	259					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGGCCTGGGCCTCCTCTCGCG	0.771																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(775-777)gaG>gaT		GEM interacting protein							4.0	6.0	5.0					19																	19748980		1904	3835	5739	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19748980C>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.777G>T	19.37:g.19748980C>A	ENSP00000203556:p.Glu259Asp					GMIP_ENST00000587238.1_Missense_Mutation_p.E259D|GMIP_ENST00000445806.2_Missense_Mutation_p.E259D	p.E259D	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			9	914	-			259					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.777G>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986478	0.35036	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.47528	0.84;0.84	3.74	2.63	0.31362	.	0.167540	0.28279	N	0.015930	T	0.35219	0.0924	L	0.41961	1.31	0.46749	D	0.999184	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.09377	0.004;0.004;0.004	T	0.14896	-1.0456	10	0.21540	T	0.41	-22.8359	10.0429	0.42169	0.2144:0.7856:0.0:0.0	.	259;259;259	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	D	259	ENSP00000203556:E259D;ENSP00000397075:E259D	ENSP00000203556:E259D	E	-	3	2	GMIP	19609980	0.995000	0.38212	1.000000	0.80357	0.669000	0.39330	0.310000	0.19356	1.918000	0.55548	0.313000	0.20887	GAG		0.771	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		4	15	1	0	1.024e-07	0.184627	1.13899e-07	4	15				
COL4A2	1284	broad.mit.edu	37	13	111138135	111138135	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:111138135G>A	ENST00000360467.5	+	34	3465	c.3159G>A	c.(3157-3159)gtG>gtA	p.V1053V		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1053	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCCCTGGGGTGGCTGGCCCCC	0.617																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3157-3159)gtG>gtA		collagen, type IV, alpha 2							40.0	47.0	44.0					13																	111138135		1856	4089	5945	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111138135G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3159G>A	13.37:g.111138135G>A							p.V1053V	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		34	3465	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1053			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.3159G>A	CCDS41907.1																																																																																				0.617	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		6	111	0	0	0	0.217242	0	6	111				
CDR2	1039	broad.mit.edu	37	16	22358681	22358681	+	Missense_Mutation	SNP	C	C	T	rs145715358		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:22358681C>T	ENST00000268383.2	-	5	1277	c.970G>A	c.(970-972)Gtg>Atg	p.V324M		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	324						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TGGCCCTTCACGATGTCACTC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		21233	0.001		0.0	False		,,,				2504	0.0					ENST00000268383.2																			0				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(970-972)Gtg>Atg		cerebellar degeneration-related protein 2, 62kDa		C	MET/VAL	1,4393	2.1+/-5.4	0,1,2196	75.0	56.0	63.0		970	5.7	0.9	16	dbSNP_134	63	0,8600		0,0,4300	no	missense	CDR2	NM_001802.1	21	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	324/455	22358681	1,12993	2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22358681C>T	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.970G>A	16.37:g.22358681C>T	ENSP00000268383:p.Val324Met						p.V324M	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	5	1277	-			324					A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.970G>A	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275601	0.59649	2.28E-4	0.0	ENSG00000140743	ENST00000268383	T	0.53423	0.62	5.66	5.66	0.87406	.	0.249982	0.39544	N	0.001328	T	0.39835	0.1093	L	0.50333	1.59	0.27830	N	0.941471	P	0.42757	0.789	B	0.34418	0.182	T	0.47649	-0.9101	10	0.39692	T	0.17	-16.6607	14.2315	0.65895	0.0:0.733:0.267:0.0	.	324	Q01850	CDR2_HUMAN	M	324	ENSP00000268383:V324M	ENSP00000268383:V324M	V	-	1	0	CDR2	22266182	0.982000	0.34865	0.850000	0.33497	0.798000	0.45092	3.993000	0.56987	2.659000	0.90383	0.563000	0.77884	GTG		0.577	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			8	63	0	0	0	0.278610	0	8	63				
SETD5	55209	broad.mit.edu	37	3	9490139	9490139	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:9490139G>A	ENST00000406341.1	+	15	2361	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	SETD5_ENST00000302463.6_Missense_Mutation_p.R626H|SETD5_ENST00000402466.1_Missense_Mutation_p.R626H|SETD5_ENST00000407969.1_Missense_Mutation_p.R743H|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.R724H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	724										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGCCCTTTACGTATCACAACG	0.418																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1876-1878)cGt>cAt		SET domain containing 5							135.0	133.0	133.0					3																	9490139		1963	4162	6125	SO:0001583	missense	55209							g.chr3:9490139G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2171G>A	3.37:g.9490139G>A	ENSP00000383939:p.Arg724His					SETD5_ENST00000302463.6_Missense_Mutation_p.R626H|SETD5_ENST00000402198.1_Missense_Mutation_p.R724H|SETD5_ENST00000406341.1_Missense_Mutation_p.R724H|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.R743H	p.R626H			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	17	2645	+	Medulloblastoma(99;0.227)		724					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.1877G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326157	0.81580	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.94931	-3.23;-3.56;-3.23;-3.21;-3.56	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.97136	0.9064	M	0.69823	2.125	0.49299	D	0.999771	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.972;0.959	D	0.97297	0.9928	10	0.87932	D	0	-11.254	19.9759	0.97304	0.0:0.0:1.0:0.0	.	393;626;724;743	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	H	724;626;724;743;626	ENSP00000385852:R724H;ENSP00000384429:R626H;ENSP00000383939:R724H;ENSP00000384114:R743H;ENSP00000302028:R626H	ENSP00000302028:R626H	R	+	2	0	SETD5	9465139	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.614000	0.82996	2.713000	0.92767	0.655000	0.94253	CGT		0.418	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		4	92	0	0	0	0.150653	0	4	92				
PLD1	5337	broad.mit.edu	37	3	171427351	171427351	+	Splice_Site	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:171427351A>G	ENST00000351298.4	-	10	1186	c.1060T>C	c.(1060-1062)Tgg>Cgg	p.W354R	PLD1_ENST00000356327.5_Splice_Site_p.W354R|PLD1_ENST00000342215.6_Splice_Site_p.W354R|PLD1_ENST00000340989.4_Splice_Site_p.W354R	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	354					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.W354R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATAACTTACCATTTAGCTAAA	0.378																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			1	Substitution - Missense(1)	p.W354R(1)	prostate(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.e10+1		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						136.0	126.0	129.0					3																	171427351		2203	4300	6503	SO:0001630	splice_region_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171427351A>G	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1061+1T>C	3.37:g.171427351A>G						PLD1_ENST00000342215.6_Splice_Site_p.W354_splice|PLD1_ENST00000351298.4_Splice_Site_p.W354_splice|PLD1_ENST00000340989.4_Splice_Site_p.W354_splice	p.W354_splice	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		10	1130	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		354						Splice_Site	SNP	ENST00000351298.4	37	c.1061_splice	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420851	0.62622	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.93854	3.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.989;0.998	T	0.72950	-0.4136	10	0.87932	D	0	-10.796	14.5911	0.68365	1.0:0.0:0.0:0.0	.	377;354	Q59EA4;Q13393	.;PLD1_HUMAN	R	354	ENSP00000348681:W354R;ENSP00000342793:W354R;ENSP00000339936:W354R;ENSP00000340326:W354R	ENSP00000340326:W354R	W	-	1	0	PLD1	172910045	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	8.587000	0.90810	2.080000	0.62538	0.460000	0.39030	TGG		0.378	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	Missense_Mutation	10	106	0	0	0	0.387290	0	10	106				
VPS13B	157680	broad.mit.edu	37	8	100454735	100454735	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:100454735G>A	ENST00000358544.2	+	23	3428	c.3317G>A	c.(3316-3318)gGa>gAa	p.G1106E	VPS13B_ENST00000395996.1_Missense_Mutation_p.G1106E|VPS13B_ENST00000357162.2_Missense_Mutation_p.G1106E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1106					protein transport (GO:0015031)			p.G1106E(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGTACCATGGACAAACCAGC	0.428																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			2	Substitution - Missense(2)	p.G1106E(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3316-3318)gGa>gAa		vacuolar protein sorting 13 homolog B (yeast)							163.0	150.0	155.0					8																	100454735		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100454735G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3317G>A	8.37:g.100454735G>A	ENSP00000351346:p.Gly1106Glu					VPS13B_ENST00000358544.2_Missense_Mutation_p.G1106E|VPS13B_ENST00000357162.2_Missense_Mutation_p.G1106E	p.G1106E			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		23	3428	+	Breast(36;3.73e-07)		1106					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3317G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.381016	0.82792	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.40476	1.03;1.03;1.03	5.71	5.71	0.89125	.	0.126149	0.53938	D	0.000048	T	0.56963	0.2021	L	0.32530	0.975	0.51233	D	0.999918	D;D;D;D	0.76494	0.997;0.999;0.995;0.982	D;D;P;P	0.76071	0.944;0.987;0.82;0.805	T	0.57774	-0.7753	10	0.66056	D	0.02	.	19.8633	0.96793	0.0:0.0:1.0:0.0	.	1105;1106;1106;1106	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	E	1106	ENSP00000349685:G1106E;ENSP00000351346:G1106E;ENSP00000379318:G1106E	ENSP00000349685:G1106E	G	+	2	0	VPS13B	100523911	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.468000	0.66743	2.697000	0.92050	0.591000	0.81541	GGA		0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		6	107	0	0	0	0.248553	0	6	107				
HEATR6	63897	broad.mit.edu	37	17	58121389	58121389	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:58121389C>T	ENST00000184956.6	-	20	3097	c.3081G>A	c.(3079-3081)ccG>ccA	p.P1027P	AC005702.3_ENST00000582298.1_RNA|AC005702.4_ENST00000583144.1_RNA|AC005702.1_ENST00000581326.1_RNA|MIR4737_ENST00000583979.1_RNA|AC005702.2_ENST00000577558.1_RNA|HEATR6_ENST00000585976.1_Silent_p.P915P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1027							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CTCTCTTCCCCGGGACGGAAA	0.532																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(3079-3081)ccG>ccA		HEAT repeat containing 6							116.0	114.0	114.0					17																	58121389		2203	4300	6503	SO:0001819	synonymous_variant	63897						binding	g.chr17:58121389C>T	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3081G>A	17.37:g.58121389C>T						HEATR6_ENST00000585976.1_Silent_p.P915P	p.P1027P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		20	3097	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1027					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	c.3081G>A	CCDS11623.1																																																																																				0.532	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		9	201	0	0	0	0.335167	0	9	201				
DDX56	54606	broad.mit.edu	37	7	44612025	44612025	+	Missense_Mutation	SNP	C	C	T	rs140918826		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:44612025C>T	ENST00000258772.5	-	5	672	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R189Q	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	189	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTGGTAAATCCGGGGCAAGTG	0.493																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(565-567)cGg>cAg		DEAD (Asp-Glu-Ala-Asp) box helicase 56		C	GLN/ARG	1,4405		0,1,2202	68.0	66.0	67.0		566	6.1	1.0	7	dbSNP_134	67	0,8600		0,0,4300	no	missense	DDX56	NM_019082.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	189/548	44612025	1,13005	2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44612025C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.566G>A	7.37:g.44612025C>T	ENSP00000258772:p.Arg189Gln					DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R189Q	p.R189Q	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			5	672	-			189			Helicase ATP-binding.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.566G>A	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.212715	0.79352	2.27E-4	0.0	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.15256	2.44;2.44	6.07	6.07	0.98685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.054851	0.64402	D	0.000001	T	0.10809	0.0264	N	0.12831	0.26	0.39894	D	0.973814	B;D	0.54047	0.36;0.964	B;B	0.42462	0.067;0.388	T	0.07102	-1.0790	10	0.40728	T	0.16	-23.4188	11.4039	0.49885	0.0:0.9189:0.0:0.0811	.	189;189	C9JV95;Q9NY93	.;DDX56_HUMAN	Q	189	ENSP00000258772:R189Q;ENSP00000393488:R189Q	ENSP00000258772:R189Q	R	-	2	0	DDX56	44578550	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.003000	0.49505	2.884000	0.98904	0.655000	0.94253	CGG		0.493	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		5	66	0	0	0	0.217242	0	5	66				
EP400	57634	broad.mit.edu	37	12	132472338	132472338	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:132472338G>A	ENST00000333577.4	+	8	2529	c.2420G>A	c.(2419-2421)cGc>cAc	p.R807H	EP400_ENST00000389561.2_Missense_Mutation_p.R771H|EP400_ENST00000332482.4_Missense_Mutation_p.R734H|EP400_ENST00000330386.6_Missense_Mutation_p.R771H|EP400_ENST00000389562.2_Missense_Mutation_p.R770H			Q96L91	EP400_HUMAN	E1A binding protein p400	807	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGGCCCCACGCCCCAAGTCC	0.597																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(2419-2421)cGc>cAc		E1A binding protein p400							60.0	54.0	56.0					12																	132472338		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132472338G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2420G>A	12.37:g.132472338G>A	ENSP00000333602:p.Arg807His					EP400_ENST00000389562.2_Missense_Mutation_p.R770H|EP400_ENST00000330386.6_Missense_Mutation_p.R771H|EP400_ENST00000332482.4_Missense_Mutation_p.R734H|EP400_ENST00000389561.2_Missense_Mutation_p.R771H	p.R807H			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	8	2529	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	807			HSA.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.2420G>A		.	.	.	.	.	.	.	.	.	.	G	16.68	3.190162	0.58017	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.93133	-3.15;-3.14;-3.14;-3.17;-3.12	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	M	0.84585	2.705	0.49687	D	0.999816	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.97350	0.9963	10	0.66056	D	0.02	.	19.3223	0.94246	0.0:0.0:1.0:0.0	.	771;771;770;807;734	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	H	734;807;771;770;734;771;807;771;771	ENSP00000333602:R807H;ENSP00000374212:R771H;ENSP00000374213:R770H;ENSP00000331737:R734H;ENSP00000330620:R771H	ENSP00000330620:R771H	R	+	2	0	EP400	131038291	1.000000	0.71417	0.136000	0.22124	0.879000	0.50718	9.813000	0.99286	2.637000	0.89404	0.563000	0.77884	CGC		0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	96	0	0	0	0.150653	0	4	96				
KLK4	9622	broad.mit.edu	37	19	51412615	51412615	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:51412615C>T	ENST00000324041.1	-	2	116	c.117G>A	c.(115-117)ccG>ccA	p.P39P	KLK4_ENST00000431178.2_5'Flank|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	39	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCTGCGAGTGCGGGCTGCAGT	0.637																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(115-117)ccG>ccA		kallikrein-related peptidase 4							136.0	150.0	145.0					19																	51412615		2203	4300	6503	SO:0001819	synonymous_variant	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412615C>T	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.117G>A	19.37:g.51412615C>T							p.P39P	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	2	116	-		all_neural(266;0.026)	39			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	ENST00000324041.1	37	c.117G>A	CCDS12809.1																																																																																				0.637	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		7	503	0	0	0	0.278610	0	7	503				
DLC1	10395	broad.mit.edu	37	8	12947960	12947960	+	Missense_Mutation	SNP	C	C	T	rs200504821		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:12947960C>T	ENST00000276297.4	-	15	4284	c.3875G>A	c.(3874-3876)cGa>cAa	p.R1292Q	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.R855Q|DLC1_ENST00000512044.2_Missense_Mutation_p.R889Q|DLC1_ENST00000520226.1_Missense_Mutation_p.R781Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1292					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R1292Q(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATTACGACATCGGCTCATTTC	0.512																																						ENST00000276297.4																			2	Substitution - Missense(2)	p.R1292Q(2)	prostate(2)	NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3874-3876)cGa>cAa		deleted in liver cancer 1		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	91.0	81.0	84.0		2342,2564,3875	4.4	1.0	8		84	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	43,43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	781/1018,855/1092,1292/1529	12947960	2,13004	2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12947960C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3875G>A	8.37:g.12947960C>T	ENSP00000276297:p.Arg1292Gln					DLC1_ENST00000520226.1_Missense_Mutation_p.R781Q|DLC1_ENST00000358919.2_Missense_Mutation_p.R855Q|DLC1_ENST00000512044.2_Missense_Mutation_p.R889Q|DLC1_ENST00000510318.1_5'UTR	p.R1292Q	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			15	4284	-			1292					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.3875G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	6.443	0.449798	0.12223	0.0	2.33E-4	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.04917	3.75;3.53;3.53;3.53	5.32	4.45	0.53987	.	0.216448	0.41500	D	0.000868	T	0.02380	0.0073	N	0.03268	-0.37	0.80722	D	1	B;B;B	0.22346	0.03;0.007;0.068	B;B;B	0.12837	0.004;0.003;0.008	T	0.34079	-0.9843	10	0.02654	T	1	.	9.7963	0.40737	0.0:0.7861:0.0:0.2139	.	1292;889;855	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	Q	1292;855;231;889;781	ENSP00000276297:R1292Q;ENSP00000351797:R855Q;ENSP00000422595:R889Q;ENSP00000428028:R781Q	ENSP00000276297:R1292Q	R	-	2	0	DLC1	12992331	0.979000	0.34478	0.991000	0.47740	0.972000	0.66771	2.439000	0.44846	1.635000	0.50512	0.655000	0.94253	CGA		0.512	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	124	0	0	0	0.150653	0	4	124				
SGPL1	8879	broad.mit.edu	37	10	72576638	72576638	+	Splice_Site	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:72576638T>C	ENST00000373202.3	+	2	227		c.e2+2		SGPL1_ENST00000486993.1_Splice_Site	NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1						androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						CTGATGTTGGTGAGCCTTTTG	0.473																																					Colon(151;1054 2458 6676 40971)	ENST00000373202.3																			0				large_intestine(4)	4						c.e2+2		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						365.0	328.0	340.0					10																	72576638		2203	4300	6503	SO:0001630	splice_region_variant	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72576638T>C	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.27+2T>C	10.37:g.72576638T>C						SGPL1_ENST00000486993.1_Splice_Site		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN			2	227	+								B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Splice_Site	SNP	ENST00000373202.3	37		CCDS31216.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.368821	0.42003	.	.	ENSG00000166224	ENST00000373202	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8224	0.46612	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SGPL1	72246644	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	3.266000	0.51569	2.114000	0.64651	0.451000	0.29950	.		0.473	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901	Intron	11	520	0	0	0	0.435327	0	11	520				
MYO15A	51168	broad.mit.edu	37	17	18043898	18043898	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:18043898C>A	ENST00000205890.5	+	20	5617	c.5279C>A	c.(5278-5280)tCc>tAc	p.S1760Y	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1760	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AAGAGCAGCTCCGTCACTCGG	0.647											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(5278-5280)tCc>tAc		myosin XVA							70.0	82.0	78.0					17																	18043898		2020	4180	6200	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18043898C>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5279C>A	17.37:g.18043898C>A	ENSP00000205890:p.Ser1760Tyr		OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	722	MYO15A_ENST00000412324.1_3'UTR	p.S1760Y	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			20	5617	+	all_neural(463;0.228)		1760			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.5279C>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080400	0.55753	.	.	ENSG00000091536	ENST00000205890	D	0.87729	-2.29	4.0	4.0	0.46444	Myosin head, motor domain (2);	.	.	.	.	D	0.92541	0.7631	M	0.75085	2.285	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	D	0.93432	0.6786	9	0.59425	D	0.04	.	16.9786	0.86321	0.0:1.0:0.0:0.0	.	1760	Q9UKN7	MYO15_HUMAN	Y	1760	ENSP00000205890:S1760Y	ENSP00000205890:S1760Y	S	+	2	0	MYO15A	17984623	1.000000	0.71417	0.925000	0.36789	0.987000	0.75469	7.160000	0.77495	2.190000	0.69967	0.462000	0.41574	TCC		0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		9	275	1	0	0.000673444	0.361761	0.000714675	9	275				
BTRC	8945	broad.mit.edu	37	10	103294575	103294575	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:103294575C>T	ENST00000370187.3	+	10	1373	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	BTRC_ENST00000408038.2_Missense_Mutation_p.R383W|BTRC_ENST00000393441.4_Missense_Mutation_p.R378W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	419					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CATTACCCTCCGGAGGGTGCT	0.468																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1255-1257)Cgg>Tgg		beta-transducin repeat containing E3 ubiquitin protein ligase							227.0	203.0	211.0					10																	103294575		2203	4300	6503	SO:0001583	missense	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103294575C>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1255C>T	10.37:g.103294575C>T	ENSP00000359206:p.Arg419Trp					BTRC_ENST00000408038.2_Missense_Mutation_p.R383W|BTRC_ENST00000393441.4_Missense_Mutation_p.R378W	p.R419W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	10	1373	+		Colorectal(252;0.234)	419					B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	c.1255C>T	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087278	0.76642	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.35973	1.28;1.28;2.21	5.69	3.79	0.43588	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.179769	0.38897	N	0.001530	T	0.60676	0.2287	M	0.78916	2.43	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77004	0.975;0.957;0.989	T	0.65656	-0.6115	10	0.72032	D	0.01	-11.6449	14.8331	0.70162	0.3834:0.6166:0.0:0.0	.	393;383;419	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	W	419;378;383	ENSP00000359206:R419W;ENSP00000377088:R378W;ENSP00000385339:R383W	ENSP00000359206:R419W	R	+	1	2	BTRC	103284565	0.983000	0.35010	1.000000	0.80357	0.997000	0.91878	1.635000	0.37134	0.717000	0.32145	0.655000	0.94253	CGG		0.468	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		5	283	0	0	0	0.184627	0	5	283				
ASB4	51666	broad.mit.edu	37	7	95157409	95157409	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:95157409A>G	ENST00000325885.5	+	3	843	c.772A>G	c.(772-774)Aag>Gag	p.K258E	ASB4_ENST00000428113.1_Missense_Mutation_p.K258E	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	258					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.K258E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TCCCCTCCACAAGGCAGCCTG	0.557											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325885.5																			1	Substitution - Missense(1)	p.K258E(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(772-774)Aag>Gag		ankyrin repeat and SOCS box containing 4							79.0	69.0	72.0					7																	95157409		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95157409A>G	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.772A>G	7.37:g.95157409A>G	ENSP00000321388:p.Lys258Glu		OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_ENST00000428113.1_Missense_Mutation_p.K258E	p.K258E	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	843	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		258					A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.772A>G	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005449	0.74932	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.64085	-0.08;-0.08	4.94	4.94	0.65067	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	L	0.37630	1.12	0.80722	D	1	P;D	0.76494	0.781;0.999	B;D	0.76575	0.248;0.988	T	0.67352	-0.5692	10	0.30854	T	0.27	-17.3408	15.3184	0.74102	1.0:0.0:0.0:0.0	.	258;258	Q9Y574;Q14D68	ASB4_HUMAN;.	E	258	ENSP00000321388:K258E;ENSP00000397070:K258E	ENSP00000321388:K258E	K	+	1	0	ASB4	94995345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.256000	0.78350	2.172000	0.68678	0.379000	0.24179	AAG		0.557	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		6	99	0	0	0	0.217242	0	6	99				
EIF4G1	1981	broad.mit.edu	37	3	184039641	184039641	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:184039641G>A	ENST00000346169.2	+	10	1540	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	EIF4G1_ENST00000424196.1_Silent_p.E430E|EIF4G1_ENST00000392537.2_Silent_p.E336E|EIF4G1_ENST00000441154.1_Silent_p.E259E|EIF4G1_ENST00000435046.2_Silent_p.E227E|EIF4G1_ENST00000382330.3_Silent_p.E430E|EIF4G1_ENST00000434061.2_Silent_p.E227E|EIF4G1_ENST00000319274.6_Silent_p.E423E|EIF4G1_ENST00000342981.4_Silent_p.E423E|EIF4G1_ENST00000427845.1_Silent_p.E336E|EIF4G1_ENST00000350481.5_Silent_p.E259E|EIF4G1_ENST00000414031.1_Silent_p.E383E|EIF4G1_ENST00000411531.1_Silent_p.E383E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Silent_p.E430E	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	423					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCCAGAGGAGCAGGCCAAGG	0.617																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1267-1269)gaG>gaA		eukaryotic translation initiation factor 4 gamma, 1							141.0	147.0	145.0					3																	184039641		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039641G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1269G>A	3.37:g.184039641G>A						EIF4G1_ENST00000435046.2_Silent_p.E227E|EIF4G1_ENST00000427845.1_Silent_p.E336E|EIF4G1_ENST00000352767.3_Silent_p.E430E|EIF4G1_ENST00000319274.6_Silent_p.E423E|EIF4G1_ENST00000441154.1_Silent_p.E259E|EIF4G1_ENST00000350481.5_Silent_p.E259E|EIF4G1_ENST00000434061.2_Silent_p.E227E|EIF4G1_ENST00000414031.1_Silent_p.E383E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Silent_p.E383E|EIF4G1_ENST00000382330.3_Silent_p.E430E|EIF4G1_ENST00000346169.2_Silent_p.E423E|EIF4G1_ENST00000424196.1_Silent_p.E430E|EIF4G1_ENST00000392537.2_Silent_p.E336E	p.E423E	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1683	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		423					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.1269G>A	CCDS3259.1																																																																																				0.617	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		6	269	0	0	0	0.248553	0	6	269				
MYO1D	4642	broad.mit.edu	37	17	31087406	31087406	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:31087406T>C	ENST00000318217.5	-	10	1502	c.1198A>G	c.(1198-1200)Atc>Gtc	p.I400V	MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000583621.1_Missense_Mutation_p.I400V|MYO1D_ENST00000579584.1_Missense_Mutation_p.I400V|MYO1D_ENST00000394649.4_Missense_Mutation_p.I312V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	400	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CAGTAATTGATACAGAATTGT	0.368																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1198-1200)Atc>Gtc		myosin ID							131.0	128.0	129.0					17																	31087406		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31087406T>C	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1198A>G	17.37:g.31087406T>C	ENSP00000324527:p.Ile400Val					MYO1D_ENST00000583621.1_Missense_Mutation_p.I400V|MYO1D_ENST00000579584.1_Missense_Mutation_p.I400V|MYO1D_ENST00000394649.4_Missense_Mutation_p.I312V|MYO1D_ENST00000584232.1_5'UTR	p.I400V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		10	1502	-			400			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.1198A>G	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199046	0.79015	.	.	ENSG00000176658	ENST00000318217	D	0.90788	-2.73	5.46	5.46	0.80206	Myosin head, motor domain (3);	0.000000	0.39909	U	0.001239	D	0.96999	0.9020	H	0.99851	4.845	0.58432	D	0.999996	P;P	0.40834	0.73;0.73	P;P	0.51415	0.669;0.669	D	0.97965	1.0340	10	0.87932	D	0	.	13.7799	0.63077	0.0:0.0:0.0:1.0	.	311;400	Q7Z3N6;O94832	.;MYO1D_HUMAN	V	400	ENSP00000324527:I400V	ENSP00000324527:I400V	I	-	1	0	MYO1D	28111519	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.040000	0.89188	2.206000	0.71126	0.533000	0.62120	ATC		0.368	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			7	150	0	0	0	0.248553	0	7	150				
SEC24B	10427	broad.mit.edu	37	4	110447421	110447421	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:110447421G>A	ENST00000265175.5	+	17	2886	c.2831G>A	c.(2830-2832)cGt>cAt	p.R944H	SEC24B_ENST00000399100.2_Missense_Mutation_p.R909H|SEC24B_ENST00000504968.2_Missense_Mutation_p.R974H	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	944					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.R944H(1)|p.R909H(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCTTTGTCCGTTCTACTGAT	0.358																																						ENST00000265175.5																			2	Substitution - Missense(2)	p.R944H(1)|p.R909H(1)	prostate(2)	breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2830-2832)cGt>cAt		SEC24 family member B							205.0	186.0	192.0					4																	110447421		1856	4094	5950	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110447421G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2831G>A	4.37:g.110447421G>A	ENSP00000265175:p.Arg944His					SEC24B_ENST00000399100.2_Missense_Mutation_p.R909H|SEC24B_ENST00000504968.2_Missense_Mutation_p.R974H	p.R944H	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	17	2886	+		Hepatocellular(203;0.217)	944					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.2831G>A	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870183	0.91587	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.27256	1.68;1.68;1.68	5.21	4.35	0.52113	Sec23/Sec24 beta-sandwich (1);	0.054311	0.85682	D	0.000000	T	0.51466	0.1676	M	0.77616	2.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.979;0.986;0.991;0.984;0.979	T	0.56523	-0.7965	10	0.87932	D	0	-16.5841	14.7926	0.69854	0.0735:0.0:0.9265:0.0	.	858;543;974;909;944	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	H	974;909;944	ENSP00000428564:R974H;ENSP00000382051:R909H;ENSP00000265175:R944H	ENSP00000265175:R944H	R	+	2	0	SEC24B	110666870	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.013000	0.88655	2.596000	0.87737	0.591000	0.81541	CGT		0.358	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			9	124	0	0	0	0.361761	0	9	124				
FZD2	2535	broad.mit.edu	37	17	42636103	42636103	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:42636103G>A	ENST00000315323.3	+	1	1179	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	349					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S349S(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCATCCTGTCGCTCACCTGGT	0.632																																						ENST00000315323.3																			1	Substitution - coding silent(1)	p.S349S(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1045-1047)tcG>tcA		frizzled family receptor 2							88.0	82.0	84.0					17																	42636103		2203	4300	6503	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636103G>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1047G>A	17.37:g.42636103G>A							p.S349S	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1179	+		Prostate(33;0.0181)	349					Q0VG82	Silent	SNP	ENST00000315323.3	37	c.1047G>A	CCDS11484.1																																																																																				0.632	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		8	100	0	0	0	0.307466	0	8	100				
CASKIN1	57524	broad.mit.edu	37	16	2239048	2239048	+	Silent	SNP	G	G	A	rs376282628		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:2239048G>A	ENST00000343516.6	-	6	689	c.597C>T	c.(595-597)aaC>aaT	p.N199N		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	199					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.N199N(1)|p.N28N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CGATGTGGCCGTTTTTAGCTG	0.652																																						ENST00000343516.6																			2	Substitution - coding silent(2)	p.N199N(1)|p.N28N(1)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(595-597)aaC>aaT		CASK interacting protein 1		G		1,4167		0,1,2083	79.0	87.0	84.0		597	-6.9	0.8	16		84	0,8422		0,0,4211	no	coding-synonymous	CASKIN1	NM_020764.3		0,1,6294	AA,AG,GG		0.0,0.024,0.0079		199/1432	2239048	1,12589	2084	4211	6295	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2239048G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.597C>T	16.37:g.2239048G>A							p.N199N	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			6	689	-			199					Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.597C>T	CCDS42103.1																																																																																				0.652	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		21	139	0	0	0	0.608945	0	21	139				
TUBG2	27175	broad.mit.edu	37	17	40811928	40811928	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:40811928C>T	ENST00000251412.7	+	2	325	c.126C>T	c.(124-126)acC>acT	p.T42T		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	42					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AATTCGCCACCGAGGGCACTG	0.667																																						ENST00000251412.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(124-126)acC>acT		tubulin, gamma 2							44.0	57.0	52.0					17																	40811928		2199	4289	6488	SO:0001819	synonymous_variant	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40811928C>T	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.126C>T	17.37:g.40811928C>T							p.T42T	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	2	325	+		Breast(137;0.00116)	42					A6NDI4|Q32NB2	Silent	SNP	ENST00000251412.7	37	c.126C>T	CCDS32658.1																																																																																				0.667	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		11	170	0	0	0	0.387290	0	11	170				
SEPT9	10801	broad.mit.edu	37	17	75398336	75398336	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:75398336G>A	ENST00000427177.1	+	3	398	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000590294.1_Missense_Mutation_p.R73Q|SEPT9_ENST00000423034.2_Missense_Mutation_p.R84Q|SEPT9_ENST00000591198.1_Missense_Mutation_p.R72Q|SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000329047.8_Missense_Mutation_p.R73Q|SEPT9_ENST00000431235.2_5'UTR	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	91					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R73Q(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCGTCCCTGCGGAGGGTGGAG	0.667																																						ENST00000329047.8																			2	Substitution - Missense(2)	p.R73Q(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(217-219)cGg>cAg		septin 9							19.0	22.0	22.0					17																	75398336		1895	4107	6002	SO:0001583	missense	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75398336G>A	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.272G>A	17.37:g.75398336G>A	ENSP00000391249:p.Arg91Gln					SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.R91Q|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.R84Q|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000591198.1_Missense_Mutation_p.R72Q|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000590294.1_Missense_Mutation_p.R73Q	p.R73Q	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		2	1030	+			91					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.218G>A	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650603	0.96714	.	.	ENSG00000184640	ENST00000427177;ENST00000329047;ENST00000423034	T;T;T	0.40225	1.04;1.07;1.07	5.24	5.24	0.73138	.	5.246820	0.00447	N	0.000095	T	0.63283	0.2498	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.997;0.994	D;P;P;P	0.83275	0.996;0.8;0.8;0.636	T	0.44390	-0.9331	10	0.66056	D	0.02	.	17.8047	0.88598	0.0:0.0:1.0:0.0	.	72;84;73;91	Q9UHD8-7;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;SEPT9_HUMAN	Q	91;73;84	ENSP00000391249:R91Q;ENSP00000329161:R73Q;ENSP00000405877:R84Q	ENSP00000329161:R73Q	R	+	2	0	SEPT9	72909931	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.929000	0.75852	2.437000	0.82529	0.555000	0.69702	CGG		0.667	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		10	56	0	0	0	0.335167	0	10	56				
ZNF71	58491	broad.mit.edu	37	19	57132798	57132798	+	Missense_Mutation	SNP	C	C	T	rs374291976		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:57132798C>T	ENST00000328070.6	+	3	377	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	48					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCAGAGAGGCCGCGGGGAGAT	0.617																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(142-144)cCg>cTg		zinc finger protein 71		C	LEU/PRO	0,4406		0,0,2203	33.0	35.0	34.0		143	-6.0	0.0	19		34	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF71	NM_021216.4	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	48/490	57132798	1,13005	2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57132798C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.143C>T	19.37:g.57132798C>T	ENSP00000328245:p.Pro48Leu						p.P48L	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	377	+			48					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.143C>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	0.498	-0.872253	0.02570	0.0	1.16E-4	ENSG00000197951	ENST00000328070	T	0.06849	3.25	3.01	-6.03	0.02185	.	.	.	.	.	T	0.04363	0.0120	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28839	-1.0031	9	0.48119	T	0.1	.	2.3552	0.04293	0.1296:0.3823:0.2465:0.2416	.	48	Q9NQZ8	ZNF71_HUMAN	L	48	ENSP00000328245:P48L	ENSP00000328245:P48L	P	+	2	0	ZNF71	61824610	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.485000	0.00118	-4.780000	0.00032	-3.822000	0.00019	CCG		0.617	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		9	53	0	0	0	0.307466	0	9	53				
TUBG2	27175	broad.mit.edu	37	17	40818429	40818429	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:40818429G>T	ENST00000251412.7	+	10	1284	c.1085G>T	c.(1084-1086)aGg>aTg	p.R362M	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	362					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCCCTGTCGAGGAAGTCTCCC	0.622																																						ENST00000251412.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1084-1086)aGg>aTg		tubulin, gamma 2							64.0	68.0	67.0					17																	40818429		2203	4297	6500	SO:0001583	missense	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40818429G>T	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.1085G>T	17.37:g.40818429G>T	ENSP00000251412:p.Arg362Met						p.R362M	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	10	1284	+		Breast(137;0.00116)	362					A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	c.1085G>T	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522900	0.64747	.	.	ENSG00000037042	ENST00000251412	D	0.84516	-1.86	5.85	4.86	0.63082	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	M	0.89414	3.03	0.80722	D	1	P	0.50710	0.938	P	0.48571	0.582	D	0.91468	0.5194	10	0.87932	D	0	-28.7231	14.109	0.65111	0.0746:0.0:0.9254:0.0	.	362	Q9NRH3	TBG2_HUMAN	M	362	ENSP00000251412:R362M	ENSP00000251412:R362M	R	+	2	0	TUBG2	38071955	1.000000	0.71417	0.929000	0.37066	0.127000	0.20565	9.696000	0.98695	1.412000	0.46977	0.655000	0.94253	AGG		0.622	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		4	155	1	0	0.014758	0.184627	0.015272	4	155				
APPL1	26060	broad.mit.edu	37	3	57303570	57303570	+	Splice_Site	SNP	A	A	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:57303570A>T	ENST00000288266.3	+	22	2132	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	ASB14_ENST00000487349.1_3'UTR|ASB14_ENST00000389601.3_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	662					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.D662V(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTCCACTAGGACTTGGAAGAA	0.423																																						ENST00000288266.3																			1	Substitution - Missense(1)	p.D662V(1)	prostate(1)	breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.e22-1		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							93.0	89.0	90.0					3																	57303570		2203	4300	6503	SO:0001630	splice_region_variant	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57303570A>T	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1984-1A>T	3.37:g.57303570A>T						ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR	p.D662_splice	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	22	2132	+			662					Q9P2B9	Splice_Site	SNP	ENST00000288266.3	37	c.1983_splice	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.841446	0.71488	.	.	ENSG00000157500	ENST00000288266	T	0.11821	2.74	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.01692	-1.1294	10	0.87932	D	0	.	16.1611	0.81712	1.0:0.0:0.0:0.0	.	662	Q9UKG1	DP13A_HUMAN	V	662	ENSP00000288266:D662V	ENSP00000288266:D662V	D	+	2	0	APPL1	57278610	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.873000	0.92357	2.272000	0.75746	0.460000	0.39030	GAC		0.423	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	Missense_Mutation	7	102	0	0	0	0.278610	0	7	102				
ZPBP	11055	broad.mit.edu	37	7	50121412	50121412	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:50121412G>T	ENST00000046087.2	-	3	361	c.292C>A	c.(292-294)Cca>Aca	p.P98T	ZPBP_ENST00000419417.1_Missense_Mutation_p.P98T	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	98					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.P98T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGGAATGATGGGTCTATCAGT	0.358																																						ENST00000046087.2																			1	Substitution - Missense(1)	p.P98T(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(292-294)Cca>Aca		zona pellucida binding protein							132.0	123.0	126.0					7																	50121412		2203	4300	6503	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50121412G>T	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.292C>A	7.37:g.50121412G>T	ENSP00000046087:p.Pro98Thr					ZPBP_ENST00000419417.1_Missense_Mutation_p.P98T	p.P98T	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			3	361	-	Glioma(55;0.08)|all_neural(89;0.245)		98					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.292C>A	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933352	0.73442	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	T;T;T	0.68025	-0.3;-0.3;-0.3	5.1	5.1	0.69264	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000073	T	0.81541	0.4844	M	0.79475	2.455	0.45035	D	0.998053	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82637	-0.0359	9	.	.	.	-13.1095	15.4299	0.75084	0.0:0.0:1.0:0.0	.	98;98	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	T	98;98;59	ENSP00000046087:P98T;ENSP00000402071:P98T;ENSP00000390054:P59T	.	P	-	1	0	ZPBP	50091958	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.198000	0.65147	2.375000	0.81037	0.460000	0.39030	CCA		0.358	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		4	66	1	0	0.150653	0.150653	0.152858	4	66				
RAB3A	5864	broad.mit.edu	37	19	18313413	18313413	+	Silent	SNP	C	C	T	rs144222621		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:18313413C>T	ENST00000222256.4	-	2	316	c.138G>A	c.(136-138)tcG>tcA	p.S46S	RAB3A_ENST00000464076.3_Intron|AC068499.10_ENST00000594805.3_RNA|AC068499.10_ENST00000599416.2_RNA|AC068499.10_ENST00000596473.1_RNA	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	46					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.S46S(2)		NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CAGGCGTGAACGAGTCGTCAG	0.542											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222256.4																			2	Substitution - coding silent(2)	p.S46S(2)	prostate(1)|lung(1)	NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(136-138)tcG>tcA		RAB3A, member RAS oncogene family							283.0	226.0	245.0					19																	18313413		2203	4300	6503	SO:0001819	synonymous_variant	5864				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	g.chr19:18313413C>T		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"""RAB, member RAS oncogene"""	9777	protein-coding gene	gene with protein product	"""RAS-associated protein RAB3A"""	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.138G>A	19.37:g.18313413C>T			OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	724	RAB3A_ENST00000464076.2_Intron	p.S46S	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN			2	316	-			46					A8K0J4|Q9NYE1	Silent	SNP	ENST00000222256.4	37	c.138G>A	CCDS12372.1																																																																																				0.542	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		42	273	0	0	0	0.834066	0	42	273				
CLPTM1	1209	broad.mit.edu	37	19	45476426	45476426	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:45476426C>T	ENST00000337392.5	+	3	418	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	CLPTM1_ENST00000541297.2_Missense_Mutation_p.R76C|CLPTM1_ENST00000546079.1_5'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	90					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.R90C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGGAGCTCCACGCGTCGCCAG	0.627																																						ENST00000541297.2																			2	Substitution - Missense(2)	p.R90C(2)	prostate(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(226-228)Cgc>Tgc		cleft lip and palate associated transmembrane protein 1							33.0	38.0	36.0					19																	45476426		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45476426C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.268C>T	19.37:g.45476426C>T	ENSP00000336994:p.Arg90Cys					CLPTM1_ENST00000337392.5_Missense_Mutation_p.R90C|CLPTM1_ENST00000546079.1_5'UTR	p.R76C			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	3	691	+		all_neural(266;0.224)|Ovarian(192;0.231)	90					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.226C>T	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851095	0.71719	.	.	ENSG00000104853	ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77671	0.4165	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67725	0.922;0.953	T	0.78455	-0.2197	9	0.54805	T	0.06	-24.8352	17.0775	0.86590	0.0:1.0:0.0:0.0	.	76;90	F5H8J3;O96005	.;CLPT1_HUMAN	C	76;90;90	.	ENSP00000336994:R90C	R	+	1	0	CLPTM1	50168266	0.989000	0.36119	1.000000	0.80357	0.612000	0.37316	2.923000	0.48868	2.633000	0.89246	0.555000	0.69702	CGC		0.627	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		14	119	0	0	0	0.435327	0	14	119				
GRIK1	2897	broad.mit.edu	37	21	31062069	31062069	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr21:31062069C>T	ENST00000399907.1	-	3	934	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	GRIK1_ENST00000535441.1_Missense_Mutation_p.V175M|GRIK1_ENST00000309434.7_Missense_Mutation_p.V175M|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399914.1_Missense_Mutation_p.V175M|GRIK1_ENST00000399909.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389124.2_Missense_Mutation_p.V175M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V175M|GRIK1_ENST00000399913.1_Missense_Mutation_p.V175M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V175M	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	175					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.V175M(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCATACACCACTGTCACTGTT	0.433																																						ENST00000399914.1																			2	Substitution - Missense(2)	p.V175M(2)	prostate(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(523-525)Gtg>Atg		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						216.0	207.0	210.0					21																	31062069		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31062069C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.523G>A	21.37:g.31062069C>T	ENSP00000382791:p.Val175Met					GRIK1_ENST00000399913.1_Missense_Mutation_p.V175M|GRIK1_ENST00000309434.7_Missense_Mutation_p.V175M|GRIK1_ENST00000399909.1_Missense_Mutation_p.V175M|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V175M|GRIK1_ENST00000389124.2_Missense_Mutation_p.V175M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V175M|GRIK1_ENST00000535441.1_Missense_Mutation_p.V175M	p.V175M			P39086	GRIK1_HUMAN			3	1044	-			175					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.523G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135923	0.77662	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.02	4.13	0.48395	Extracellular ligand-binding receptor (1);	0.127164	0.53938	D	0.000057	D	0.91459	0.7304	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.79108	0.992;0.992;0.992;0.992;0.97	D	0.92392	0.5922	10	0.72032	D	0.01	.	14.6144	0.68539	0.1469:0.8531:0.0:0.0	.	175;175;175;175;175	E7EPY9;E9PD61;B7Z3V7;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	M	175;175;175;175;175;119;175;175;175;175	ENSP00000327687:V175M;ENSP00000373777:V175M;ENSP00000382797:V175M;ENSP00000382798:V175M;ENSP00000446326:V175M;ENSP00000373776:V175M;ENSP00000382791:V175M;ENSP00000382793:V175M;ENSP00000311646:V175M	ENSP00000311646:V175M	V	-	1	0	GRIK1	29983940	1.000000	0.71417	0.858000	0.33744	0.959000	0.62525	5.532000	0.67154	1.313000	0.45069	0.655000	0.94253	GTG		0.433	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			20	226	0	0	0	0.557998	0	20	226				
FAM91A1	157769	broad.mit.edu	37	8	124799551	124799551	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:124799551C>T	ENST00000334705.7	+	13	1375	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377C	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	377								p.R377C(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ACACACGAAGCGCATCGCATT	0.388																																						ENST00000334705.7																			1	Substitution - Missense(1)	p.R377C(1)	prostate(1)	breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1129-1131)Cgc>Tgc		family with sequence similarity 91, member A1							76.0	73.0	74.0					8																	124799551		1881	4110	5991	SO:0001583	missense	157769							g.chr8:124799551C>T	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1129C>T	8.37:g.124799551C>T	ENSP00000335082:p.Arg377Cys					FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377C	p.R377C	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		13	1375	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		377					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.1129C>T	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683049	0.68157	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.60171	0.21;0.21	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66196	0.917;0.942	T	0.82754	-0.0301	10	0.87932	D	0	.	19.8193	0.96586	0.0:1.0:0.0:0.0	.	377;377	E7ER68;Q658Y4	.;F91A1_HUMAN	C	377	ENSP00000429491:R377C;ENSP00000335082:R377C	ENSP00000335082:R377C	R	+	1	0	FAM91A1	124868732	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	6.182000	0.71995	2.699000	0.92147	0.650000	0.86243	CGC		0.388	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		12	85	0	0	0	0.435327	0	12	85				
TPD52L1	7164	broad.mit.edu	37	6	125550342	125550342	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:125550342G>A	ENST00000534000.1	+	3	510	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	TPD52L1_ENST00000524679.1_Missense_Mutation_p.G43S|TPD52L1_ENST00000368402.5_Missense_Mutation_p.G72S|TPD52L1_ENST00000534199.1_Missense_Mutation_p.G43S|TPD52L1_ENST00000304877.13_Missense_Mutation_p.G72S|TPD52L1_ENST00000528193.1_Missense_Mutation_p.G72S|TPD52L1_ENST00000527711.1_Missense_Mutation_p.G72S|TPD52L1_ENST00000532429.1_Missense_Mutation_p.G43S|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000392482.2_Missense_Mutation_p.G43S|TPD52L1_ENST00000368388.2_Missense_Mutation_p.G72S	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	72					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G72S(1)		endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		ACAAAAACTCGGCATGAACCT	0.393																																						ENST00000534000.1																			1	Substitution - Missense(1)	p.G72S(1)	prostate(1)	endometrium(2)|large_intestine(2)|prostate(1)	5						c.(214-216)Ggc>Agc		tumor protein D52-like 1							101.0	94.0	96.0					6																	125550342		2203	4300	6503	SO:0001583	missense	0				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125550342G>A	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.214G>A	6.37:g.125550342G>A	ENSP00000434142:p.Gly72Ser					TPD52L1_ENST00000532429.1_Missense_Mutation_p.G43S|TPD52L1_ENST00000392482.2_Missense_Mutation_p.G43S|TPD52L1_ENST00000534199.1_Missense_Mutation_p.G43S|TPD52L1_ENST00000524679.1_Missense_Mutation_p.G43S|TPD52L1_ENST00000304877.13_Missense_Mutation_p.G72S|TPD52L1_ENST00000368388.2_Missense_Mutation_p.G72S|TPD52L1_ENST00000368402.5_Missense_Mutation_p.G72S|TPD52L1_ENST00000528193.1_Missense_Mutation_p.G72S|TPD52L1_ENST00000527711.1_Missense_Mutation_p.G72S	p.G72S	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	3	510	+			72					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	ENST00000534000.1	37	c.214G>A	CCDS5130.1	.	.	.	.	.	.	.	.	.	.	G	35	5.593216	0.96602	.	.	ENSG00000111907	ENST00000534368;ENST00000304877;ENST00000534000;ENST00000368402;ENST00000368388;ENST00000527711;ENST00000528193;ENST00000532429;ENST00000534199;ENST00000392482;ENST00000524679;ENST00000392484	T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.75295	0.3830	M	0.88906	2.99	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	T	0.79659	-0.1711	10	0.87932	D	0	-21.0088	19.559	0.95364	0.0:0.0:1.0:0.0	.	72;72;72;72	E9PPQ1;Q16890-3;Q16890-2;Q16890	.;.;.;TPD53_HUMAN	S	43;72;72;72;72;72;72;43;43;43;43;72	ENSP00000432806:G43S;ENSP00000306285:G72S;ENSP00000434142:G72S;ENSP00000357387:G72S;ENSP00000357373:G72S;ENSP00000436953:G72S;ENSP00000434743:G72S;ENSP00000435447:G43S;ENSP00000432590:G43S;ENSP00000376273:G43S;ENSP00000432787:G43S	ENSP00000306285:G72S	G	+	1	0	TPD52L1	125592041	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.386000	0.97228	2.706000	0.92434	0.650000	0.86243	GGC		0.393	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2			5	128	0	0	0	0.184627	0	5	128				
PGA5	5222	broad.mit.edu	37	11	61018744	61018744	+	Silent	SNP	T	T	C	rs601275	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:61018744T>C	ENST00000312403.5	+	9	1343	c.1158T>C	c.(1156-1158)ccT>ccC	p.P386P	PGA5_ENST00000541528.1_Silent_p.P126P|CTD-2331C18.5_ENST00000537594.1_RNA|PGA4_ENST00000422676.2_Silent_p.P386P|PGA5_ENST00000451616.2_Silent_p.P232P	NM_014224.2	NP_055039.1	P0DJD9	PEPA5_HUMAN	pepsinogen 5, group I (pepsinogen A)	386					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.P386P(2)		large_intestine(1)|skin(1)	2						GCCTGGCCCCTGTGGCTTAAG	0.537													t|||	23	0.00459265	0.003	0.0043	5008	,	,		19560	0.0		0.006	False		,,,				2504	0.0102					ENST00000312403.5																			2	Substitution - coding silent(2)	p.P386P(2)	prostate(2)	large_intestine(1)|skin(1)	2						c.(1156-1158)ccT>ccC		pepsinogen 5, group I (pepsinogen A)		C		0,4406	825.8+/-416.5	0,0,2203	163.0	159.0	161.0		1158	-3.0	0.0	11	dbSNP_83	161	23,8575	817.7+/-406.9	0,23,4276	no	coding-synonymous	PGA5	NM_014224.2		0,23,6479	CC,CT,TT		0.2675,0.0,0.1769		386/389	61018744	23,12981	2203	4299	6502	SO:0001819	synonymous_variant	5222				digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr11:61018744T>C	BC029055	CCDS8001.1	11q13	2012-10-02			ENSG00000256713	ENSG00000256713	3.4.23.1		8887	protein-coding gene	gene with protein product		169730					Standard	NM_014224		Approved		uc001nqz.3	P0DJD9	OTTHUMG00000168075	ENST00000312403.5:c.1158T>C	11.37:g.61018744T>C						PGA5_ENST00000541528.1_Silent_p.P126P|PGA5_ENST00000451616.2_Silent_p.P232P|PGA4_ENST00000422676.2_Silent_p.P386P	p.P386P	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN			9	1343	+			386					A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3	Silent	SNP	ENST00000312403.5	37	c.1158T>C	CCDS8001.1																																																																																				0.537	PGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397972.1	NM_014224		13	195	0	0	0	0.411799	0	13	195				
CACNG4	27092	broad.mit.edu	37	17	65026808	65026808	+	Silent	SNP	G	G	A	rs377684890		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:65026808G>A	ENST00000262138.3	+	4	674	c.672G>A	c.(670-672)gcG>gcA	p.A224A	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	224					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A224A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCCTTAAGGCGTCTTCCTCTT	0.542																																						ENST00000262138.3																			1	Substitution - coding silent(1)	p.A224A(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(670-672)gcG>gcA		calcium channel, voltage-dependent, gamma subunit 4		G		0,4406		0,0,2203	81.0	84.0	83.0		672	-9.7	0.2	17		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACNG4	NM_014405.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		224/328	65026808	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65026808G>A	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.672G>A	17.37:g.65026808G>A							p.A224A	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	674	+	all_cancers(12;9.86e-11)		224					B2RCK0	Silent	SNP	ENST00000262138.3	37	c.672G>A	CCDS11667.1																																																																																				0.542	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		30	134	0	0	0	0.750413	0	30	134				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	85	0	0	0	0.150653	0	4	85				
MFSD7	84179	broad.mit.edu	37	4	680048	680048	+	Missense_Mutation	SNP	C	C	T	rs138706049		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:680048C>T	ENST00000404286.2	-	3	353	c.338G>A	c.(337-339)cGc>cAc	p.R113H	MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000503156.1_Missense_Mutation_p.R49H|MFSD7_ENST00000513740.1_Intron|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000322224.4_Missense_Mutation_p.R113H	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	113					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.R113H(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGCACCATGCGTAGCACACT	0.627																																						ENST00000322224.4																			1	Substitution - Missense(1)	p.R113H(1)	prostate(1)	cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(337-339)cGc>cAc		major facilitator superfamily domain containing 7		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	68.0	69.0		338	4.6	0.0	4	dbSNP_134	69	0,8600		0,0,4300	no	missense	MFSD7	NM_032219.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	113/560	680048	1,13005	2203	4300	6503	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:680048C>T	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.338G>A	4.37:g.680048C>T	ENSP00000384616:p.Arg113His					MFSD7_ENST00000503156.1_Missense_Mutation_p.R49H|MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000513740.1_Intron|MFSD7_ENST00000404286.2_Missense_Mutation_p.R113H	p.R113H			Q6UXD7	MFSD7_HUMAN			3	651	-			113					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.338G>A		.	.	.	.	.	.	.	.	.	.	C	17.37	3.373063	0.61624	2.27E-4	0.0	ENSG00000169026	ENST00000322224;ENST00000404286;ENST00000503156;ENST00000507165	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	4.63	4.63	0.57726	Major facilitator superfamily domain, general substrate transporter (1);	0.061375	0.64402	D	0.000003	T	0.75961	0.3921	M	0.90309	3.105	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.70121	-0.4959	10	0.87932	D	0	-23.1901	12.8677	0.57948	0.0:1.0:0.0:0.0	.	49;113;113	D6RIZ6;Q6UXD7;Q6UXD7-2	.;MFSD7_HUMAN;.	H	113;113;49;49	ENSP00000320234:R113H;ENSP00000384616:R113H;ENSP00000425753:R49H;ENSP00000424556:R49H	ENSP00000320234:R113H	R	-	2	0	MFSD7	670048	0.101000	0.21875	0.010000	0.14722	0.016000	0.09150	1.835000	0.39181	2.420000	0.82092	0.561000	0.74099	CGC		0.627	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		8	80	0	0	0	0.307466	0	8	80				
THNSL1	79896	broad.mit.edu	37	10	25314125	25314125	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:25314125G>A	ENST00000524413.1	+	3	2320	c.1973G>A	c.(1972-1974)tGc>tAc	p.C658Y	THNSL1_ENST00000376356.4_Missense_Mutation_p.C658Y			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	658						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	GACAAAACTTGCCCTGTGATT	0.403																																						ENST00000524413.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(1972-1974)tGc>tAc		threonine synthase-like 1 (S. cerevisiae)	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						95.0	93.0	94.0					10																	25314125		2203	4300	6503	SO:0001583	missense	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25314125G>A	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1973G>A	10.37:g.25314125G>A	ENSP00000434887:p.Cys658Tyr					THNSL1_ENST00000376356.4_Missense_Mutation_p.C658Y	p.C658Y			Q8IYQ7	THNS1_HUMAN			3	2320	+			658					B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	c.1973G>A	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630207	0.46944	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.11063	2.81;2.81	5.94	5.94	0.96194	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	L	0.38953	1.18	0.80722	D	1	D	0.65815	0.995	D	0.63703	0.917	T	0.00112	-1.2044	10	0.72032	D	0.01	-31.6798	20.3632	0.98871	0.0:0.0:1.0:0.0	.	658	Q8IYQ7	THNS1_HUMAN	Y	658	ENSP00000434887:C658Y;ENSP00000365534:C658Y	ENSP00000365534:C658Y	C	+	2	0	THNSL1	25354131	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	8.949000	0.93012	2.826000	0.97356	0.561000	0.74099	TGC		0.403	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		6	109	0	0	0	0.217242	0	6	109				
DNAH9	1770	broad.mit.edu	37	17	11865470	11865470	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:11865470A>C	ENST00000262442.4	+	68	13198	c.13130A>C	c.(13129-13131)cAa>cCa	p.Q4377P	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4301P|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000608377.1_Missense_Mutation_p.Q689P|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4377					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGGCCCTGCAATGTGACATG	0.562																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13129-13131)cAa>cCa		dynein, axonemal, heavy chain 9							74.0	73.0	73.0					17																	11865470		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11865470A>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13130A>C	17.37:g.11865470A>C	ENSP00000262442:p.Gln4377Pro					DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4301P|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_Missense_Mutation_p.Q689P	p.Q4377P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13198	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4377					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13130A>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720031	0.48728	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.09350	2.99;2.99;2.99	5.04	5.04	0.67666	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	M	0.87328	2.875	0.51482	D	0.999928	P	0.48230	0.907	P	0.56865	0.808	T	0.04454	-1.0950	10	0.36615	T	0.2	.	11.0149	0.47682	0.8443:0.1557:0.0:0.0	.	4377	Q9NYC9	DYH9_HUMAN	P	4377;4301;2883;689	ENSP00000262442:Q4377P;ENSP00000414874:Q4301P;ENSP00000379323:Q689P	ENSP00000262442:Q4377P	Q	+	2	0	DNAH9	11806195	1.000000	0.71417	0.976000	0.42696	0.938000	0.57974	4.774000	0.62339	2.116000	0.64780	0.533000	0.62120	CAA		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		9	106	0	0	0	0.335167	0	9	106				
EOGT	285203	broad.mit.edu	37	3	69047176	69047176	+	Missense_Mutation	SNP	C	C	T	rs551271959		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:69047176C>T	ENST00000383701.3	-	10	1559	c.817G>A	c.(817-819)Gtg>Atg	p.V273M	EOGT_ENST00000295571.5_Missense_Mutation_p.V273M|EOGT_ENST00000540955.1_Intron|EOGT_ENST00000540764.1_Missense_Mutation_p.V172M	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	273					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										TCCCACATCACGATGTACACG	0.393																																						ENST00000383701.3																			0											c.(817-819)Gtg>Atg		EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							162.0	137.0	146.0					3																	69047176		2203	4300	6503	SO:0001583	missense	285203							g.chr3:69047176C>T	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.817G>A	3.37:g.69047176C>T	ENSP00000373206:p.Val273Met					EOGT_ENST00000295571.5_Missense_Mutation_p.V273M|EOGT_ENST00000540955.1_Intron|EOGT_ENST00000540764.1_Missense_Mutation_p.V172M	p.V273M	NM_001278689.1	NP_001265618.1					10	1559	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37	c.817G>A		.	.	.	.	.	.	.	.	.	.	C	14.47	2.544526	0.45280	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	T;T;T	0.08193	3.12;3.12;3.12	5.41	4.52	0.55395	.	0.188795	0.45126	D	0.000383	T	0.24198	0.0586	.	.	.	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.64687	0.921;0.928	T	0.00180	-1.1948	9	0.39692	T	0.17	.	15.1701	0.72865	0.0:0.9282:0.0:0.0718	.	273;273	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	M	273;273;172	ENSP00000373206:V273M;ENSP00000295571:V273M;ENSP00000443780:V172M	ENSP00000295571:V273M	V	-	1	0	C3orf64	69129866	1.000000	0.71417	0.988000	0.46212	0.248000	0.25809	3.813000	0.55636	2.710000	0.92621	0.591000	0.81541	GTG		0.393	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		5	120	0	0	0	0.184627	0	5	120				
FAT1	2195	broad.mit.edu	37	4	187541003	187541003	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:187541003G>A	ENST00000441802.2	-	10	6946	c.6737C>T	c.(6736-6738)gCc>gTc	p.A2246V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2246	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCCGGGTGGGCCTCAAAGTC	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(6736-6738)gCc>gTc		FAT atypical cadherin 1							143.0	148.0	146.0					4																	187541003		2045	4216	6261	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541003G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6737C>T	4.37:g.187541003G>A	ENSP00000406229:p.Ala2246Val	HNSCC(5;0.00058)					p.A2246V	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	6946	-			2246			Cadherin 20.			Missense_Mutation	SNP	ENST00000441802.2	37	c.6737C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	4.390	0.071970	0.08436	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.03181	4.02	5.05	4.17	0.49024	Cadherin (4);Cadherin-like (1);	0.367801	0.31188	N	0.008087	T	0.03608	0.0103	L	0.28274	0.84	0.31248	N	0.694353	B	0.30211	0.273	B	0.30105	0.111	T	0.18116	-1.0347	10	0.22706	T	0.39	.	14.5609	0.68136	0.0:0.0:0.8527:0.1473	.	2246	Q14517	FAT1_HUMAN	V	2246;2248	ENSP00000406229:A2246V	ENSP00000260147:A2248V	A	-	2	0	FAT1	187777997	0.999000	0.42202	0.998000	0.56505	0.469000	0.32828	3.847000	0.55895	1.279000	0.44446	0.655000	0.94253	GCC		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	283	0	0	0	0.278610	0	8	283				
UBR3	130507	broad.mit.edu	37	2	170938348	170938348	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:170938348C>T	ENST00000272793.5	+	39	5712	c.5662C>T	c.(5662-5664)Ctg>Ttg	p.L1888L	UBR3_ENST00000392631.1_Silent_p.L709L|UBR3_ENST00000418381.1_Silent_p.L1888L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1888					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L741L(1)|p.L1888L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTACAATGGGCTGTGACTCTC	0.358																																						ENST00000272793.5																			2	Substitution - coding silent(2)	p.L741L(1)|p.L1888L(1)	prostate(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5662-5664)Ctg>Ttg		ubiquitin protein ligase E3 component n-recognin 3 (putative)							132.0	132.0	132.0					2																	170938348		2203	4300	6503	SO:0001819	synonymous_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170938348C>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5662C>T	2.37:g.170938348C>T						UBR3_ENST00000392631.1_Silent_p.L709L|UBR3_ENST00000418381.1_Silent_p.L1888L	p.L1888L			Q6ZT12	UBR3_HUMAN			39	5712	+			1888					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37	c.5662C>T																																																																																					0.358	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		8	113	0	0	0	0.307466	0	8	113				
LANCL2	55915	broad.mit.edu	37	7	55492990	55492990	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:55492990G>T	ENST00000254770.2	+	7	1630	c.1052G>T	c.(1051-1053)aGc>aTc	p.S351I		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	351					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			ATGGAGTGTAGCGATGTGATT	0.488																																						ENST00000254770.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(1051-1053)aGc>aTc		LanC lantibiotic synthetase component C-like 2 (bacterial)							164.0	148.0	154.0					7																	55492990		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55492990G>T	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.1052G>T	7.37:g.55492990G>T	ENSP00000254770:p.Ser351Ile						p.S351I	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		7	1630	+	Breast(14;0.0379)		351					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.1052G>T	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951456	0.53186	.	.	ENSG00000132434	ENST00000254770	T	0.39592	1.07	5.5	5.5	0.81552	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.166000	0.64402	D	0.000004	T	0.49729	0.1574	M	0.73217	2.22	0.44282	D	0.997146	P	0.37276	0.589	B	0.39299	0.296	T	0.55438	-0.8141	10	0.87932	D	0	.	18.3293	0.90263	0.0:0.0:1.0:0.0	.	351	Q9NS86	LANC2_HUMAN	I	351	ENSP00000254770:S351I	ENSP00000254770:S351I	S	+	2	0	LANCL2	55460484	1.000000	0.71417	0.825000	0.32803	0.089000	0.18198	4.280000	0.58959	2.741000	0.93983	0.650000	0.86243	AGC		0.488	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		5	135	1	0	1.024e-07	0.184627	1.13899e-07	5	135				
C14orf159	80017	broad.mit.edu	37	14	91647609	91647609	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:91647609T>C	ENST00000523771.1	+	8	1398	c.795T>C	c.(793-795)tgT>tgC	p.C265C	C14orf159_ENST00000520328.1_Silent_p.C253C|C14orf159_ENST00000523816.1_Silent_p.C265C|C14orf159_ENST00000412671.2_Silent_p.C270C|C14orf159_ENST00000518868.1_Silent_p.C270C|C14orf159_ENST00000256324.10_Silent_p.C270C|C14orf159_ENST00000521077.2_Silent_p.C270C|C14orf159_ENST00000428926.2_Silent_p.C265C|C14orf159_ENST00000525393.2_Silent_p.C141C|C14orf159_ENST00000522322.1_Silent_p.C265C			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	265						mitochondrion (GO:0005739)		p.C265C(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CACCTGGTTGTCTCACCCCAG	0.522																																						ENST00000518868.1																			1	Substitution - coding silent(1)	p.C265C(1)	prostate(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(808-810)tgT>tgC		chromosome 14 open reading frame 159							87.0	76.0	79.0					14																	91647609		2203	4300	6503	SO:0001819	synonymous_variant	80017					mitochondrion		g.chr14:91647609T>C	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.795T>C	14.37:g.91647609T>C						C14orf159_ENST00000256324.10_Silent_p.C270C|C14orf159_ENST00000520328.1_Silent_p.C253C|C14orf159_ENST00000522322.1_Silent_p.C265C|C14orf159_ENST00000412671.2_Silent_p.C270C|C14orf159_ENST00000521077.2_Silent_p.C270C|C14orf159_ENST00000428926.2_Silent_p.C265C|C14orf159_ENST00000523771.1_Silent_p.C265C|C14orf159_ENST00000523816.1_Silent_p.C265C|C14orf159_ENST00000525393.2_Silent_p.C141C	p.C270C			Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	11	1500	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	265					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Silent	SNP	ENST00000523771.1	37	c.810T>C	CCDS32141.1																																																																																				0.522	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		5	63	0	0	0	0.184627	0	5	63				
XYLT1	64131	broad.mit.edu	37	16	17232351	17232351	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:17232351C>T	ENST00000261381.6	-	8	1709	c.1625G>A	c.(1624-1626)tGc>tAc	p.C542Y	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	542					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGGTGTCGCAGTGGGGGCT	0.607																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1624-1626)tGc>tAc		xylosyltransferase I							104.0	84.0	91.0					16																	17232351		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17232351C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1625G>A	16.37:g.17232351C>T	ENSP00000261381:p.Cys542Tyr					CTD-2576D5.4_ENST00000567344.1_RNA	p.C542Y	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			8	1709	-			542					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1625G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.532980	0.85812	.	.	ENSG00000103489	ENST00000261381	T	0.10668	2.85	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.13388	-1.0511	10	0.62326	D	0.03	-34.981	16.8762	0.86052	0.0:1.0:0.0:0.0	.	542	Q86Y38	XYLT1_HUMAN	Y	542	ENSP00000261381:C542Y	ENSP00000261381:C542Y	C	-	2	0	XYLT1	17139852	1.000000	0.71417	0.972000	0.41901	0.965000	0.64279	7.561000	0.82288	2.456000	0.83038	0.655000	0.94253	TGC		0.607	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		5	99	0	0	0	0.217242	0	5	99				
HMHA1	23526	broad.mit.edu	37	19	1068742	1068742	+	Splice_Site	SNP	C	C	T	rs3764655	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:1068742C>T	ENST00000313093.2	+	2	651	c.420C>T	c.(418-420)gaC>gaT	p.D140D	HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000590214.1_Splice_Site_p.D167D|HMHA1_ENST00000539243.2_Splice_Site_p.D156D|HMHA1_ENST00000592335.1_5'Flank|HMHA1_ENST00000586866.1_Splice_Site_p.D144D|HMHA1_ENST00000543365.1_5'Flank	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	140					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.D140D(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTGCGTGACGGTGAGAGCC	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		16645	0.002		0.0	False		,,,				2504	0.0					ENST00000313093.2																			1	Substitution - coding silent(1)	p.D140D(1)	prostate(1)	NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.e2+1		histocompatibility (minor) HA-1							37.0	37.0	37.0					19																	1068742		2198	4297	6495	SO:0001630	splice_region_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1068742C>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.421+1C>T	19.37:g.1068742C>T						HMHA1_ENST00000586866.1_Splice_Site_p.D144_splice|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000590214.1_Splice_Site_p.D167_splice|HMHA1_ENST00000539243.2_Splice_Site_p.D156_splice	p.D140_splice	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	651	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	140					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Splice_Site	SNP	ENST00000313093.2	37	c.421_splice	CCDS32863.1																																																																																				0.652	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1		Silent	13	143	0	0	0	0.411799	0	13	143				
ZNF317	57693	broad.mit.edu	37	19	9271970	9271970	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:9271970G>A	ENST00000247956.6	+	7	1954	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	ZNF317_ENST00000360385.3_Missense_Mutation_p.R518Q	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R550Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GTGCACAGGCGGATCCACACC	0.587																																						ENST00000247956.6																			1	Substitution - Missense(1)	p.R550Q(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(1648-1650)cGg>cAg		zinc finger protein 317							85.0	73.0	77.0					19																	9271970		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271970G>A	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1649G>A	19.37:g.9271970G>A	ENSP00000247956:p.Arg550Gln					ZNF317_ENST00000360385.3_Missense_Mutation_p.R518Q	p.R550Q	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	1954	+			550					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.1649G>A	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723692	0.68959	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.24723	1.84;1.84	2.72	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000302	T	0.43722	0.1260	M	0.69185	2.1	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.936;0.985	T	0.08889	-1.0700	10	0.87932	D	0	-33.6216	9.0917	0.36614	0.0:0.0:1.0:0.0	.	518;550	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	Q	550;518	ENSP00000247956:R550Q;ENSP00000353554:R518Q	ENSP00000247956:R550Q	R	+	2	0	ZNF317	9132970	0.004000	0.15560	0.985000	0.45067	0.864000	0.49448	1.389000	0.34453	1.843000	0.53566	0.591000	0.81541	CGG		0.587	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		5	128	0	0	0	0.184627	0	5	128				
ZNF700	90592	broad.mit.edu	37	19	12060642	12060642	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:12060642C>T	ENST00000254321.5	+	4	1946	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Silent_p.F583F	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	601					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GGAAAGCCTTCAGTTGTGCCT	0.478																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1747-1749)ttC>ttT		zinc finger protein 700							109.0	106.0	107.0					19																	12060642		2203	4300	6503	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060642C>T	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1803C>T	19.37:g.12060642C>T						ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Silent_p.F601F|CTD-2006C1.12_ENST00000586394.1_RNA	p.F583F			Q9H0M5	ZN700_HUMAN			3	2167	+			601					B9EGU4	Silent	SNP	ENST00000254321.5	37	c.1749C>T	CCDS32915.1																																																																																				0.478	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		6	184	0	0	0	0.278610	0	6	184				
COL4A2	1284	broad.mit.edu	37	13	111156530	111156530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:111156530G>T	ENST00000360467.5	+	45	4627	c.4321G>T	c.(4321-4323)Gga>Tga	p.G1441*	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1441	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G1441*(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGCCCCAAGGAAGAGGTGG	0.622																																						ENST00000360467.5																			1	Substitution - Nonsense(1)	p.G1441*(1)	prostate(1)	NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4321-4323)Gga>Tga		collagen, type IV, alpha 2							64.0	72.0	69.0					13																	111156530		1940	4135	6075	SO:0001587	stop_gained	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111156530G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4321G>T	13.37:g.111156530G>T	ENSP00000353654:p.Gly1441*					COL4A2-AS1_ENST00000417970.2_RNA	p.G1441*	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		45	4627	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1441			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Nonsense_Mutation	SNP	ENST00000360467.5	37	c.4321G>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	47	13.497846	0.99745	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	.	.	.	5.2	5.2	0.72013	.	0.000000	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3673	0.90396	0.0:0.0:1.0:0.0	.	.	.	.	X	1441	.	ENSP00000257309:G1441X	G	+	1	0	COL4A2	109954531	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.266000	0.89871	2.423000	0.82170	0.561000	0.74099	GGA		0.622	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		12	122	1	0	2.27111e-07	0.411799	2.48627e-07	12	122				
OR52N4	390072	broad.mit.edu	37	11	5776704	5776704	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:5776704C>T	ENST00000317254.3	+	1	782	c.734C>T	c.(733-735)gCc>gTc	p.A245V	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		ACCTGCACTGCCCACATTTGT	0.493																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(733-735)gCc>gTc		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							199.0	193.0	195.0					11																	5776704		2095	4253	6348	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776704C>T	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.734C>T	11.37:g.5776704C>T	ENSP00000323224:p.Ala245Val					TRIM5_ENST00000380027.1_Intron	p.A245V	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	782	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	245					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.734C>T	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020559	0.93462	.	.	ENSG00000181074	ENST00000317254	T	0.36340	1.26	6.1	6.1	0.99115	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40469	N	0.001094	T	0.65565	0.2703	M	0.87381	2.88	0.39608	D	0.969842	D	0.56521	0.976	P	0.62560	0.904	T	0.70710	-0.4797	10	0.87932	D	0	.	19.2784	0.94040	0.0:1.0:0.0:0.0	.	245	Q8NGI2	O52N4_HUMAN	V	245	ENSP00000323224:A245V	ENSP00000323224:A245V	A	+	2	0	OR52N4	5733280	0.621000	0.27077	1.000000	0.80357	0.638000	0.38207	5.877000	0.69675	2.902000	0.99343	0.650000	0.86243	GCC		0.493	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		6	239	0	0	0	0.278610	0	6	239				
PCDHA13	56136	broad.mit.edu	37	5	140263967	140263967	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140263967G>A	ENST00000289272.2	+	1	2114	c.2114G>A	c.(2113-2115)tGc>tAc	p.C705Y	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.C705Y|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	705					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCATCTGCGCGGTGTCC	0.662																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(2113-2115)tGc>tAc									86.0	73.0	77.0					5																	140263967		2203	4300	6503	SO:0001583	missense	0							g.chr5:140263967G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2114G>A	5.37:g.140263967G>A	ENSP00000289272:p.Cys705Tyr					PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.C705Y|PCDHA5_ENST00000529859.1_Intron	p.C705Y	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2114	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.2114G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862445	0.51482	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.20881	2.04;2.04	4.08	4.08	0.47627	.	.	.	.	.	T	0.54515	0.1863	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.984;0.971;0.998	T	0.64339	-0.6431	9	0.87932	D	0	.	8.7076	0.34365	0.0867:0.1546:0.7587:0.0	.	705;705;705	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	Y	705	ENSP00000386821:C705Y;ENSP00000289272:C705Y	ENSP00000289272:C705Y	C	+	2	0	PCDHA13	140244151	0.170000	0.23016	1.000000	0.80357	0.783000	0.44284	1.144000	0.31565	2.084000	0.62774	0.655000	0.94253	TGC		0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		12	204	0	0	0	0.457914	0	12	204				
GNB2	2783	broad.mit.edu	37	7	100275276	100275276	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:100275276C>T	ENST00000303210.4	+	6	905	c.423C>T	c.(421-423)ggC>ggT	p.G141G	GNB2_ENST00000427895.1_Silent_p.G41G|GNB2_ENST00000424361.1_Silent_p.G97G|GNB2_ENST00000419828.1_Silent_p.G41G|GNB2_ENST00000436220.1_Silent_p.G97G|GNB2_ENST00000393924.1_Silent_p.G141G|GNB2_ENST00000393926.1_Silent_p.G141G	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	141					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.G141G(1)		endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				AGCTGCCTGGCCACACTGGTG	0.657																																						ENST00000303210.4																			1	Substitution - coding silent(1)	p.G141G(1)	prostate(1)	endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.(421-423)ggC>ggT		guanine nucleotide binding protein (G protein), beta polypeptide 2							37.0	41.0	40.0					7																	100275276		2203	4300	6503	SO:0001819	synonymous_variant	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100275276C>T	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.423C>T	7.37:g.100275276C>T						GNB2_ENST00000393926.1_Silent_p.G141G|GNB2_ENST00000419828.1_Silent_p.G41G|GNB2_ENST00000424361.1_Silent_p.G97G|GNB2_ENST00000393924.1_Silent_p.G141G|GNB2_ENST00000427895.1_Silent_p.G41G|GNB2_ENST00000436220.1_Silent_p.G97G	p.G141G	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN			6	905	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	141					B3KPU1|P11016|P54312	Silent	SNP	ENST00000303210.4	37	c.423C>T	CCDS5703.1																																																																																				0.657	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		4	128	0	0	0	0.150653	0	4	128				
IVNS1ABP	10625	broad.mit.edu	37	1	185269161	185269161	+	Silent	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:185269161A>G	ENST00000367498.3	-	13	2093	c.1471T>C	c.(1471-1473)Ttg>Ctg	p.L491L	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.L273L	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	491					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.L491L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTTGTCCACAACTTTGTTACA	0.353																																						ENST00000367498.3																			1	Substitution - coding silent(1)	p.L491L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1471-1473)Ttg>Ctg		influenza virus NS1A binding protein							114.0	103.0	107.0					1																	185269161		2203	4300	6503	SO:0001819	synonymous_variant	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185269161A>G	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1471T>C	1.37:g.185269161A>G						IVNS1ABP_ENST00000392007.3_Silent_p.L273L|IVNS1ABP_ENST00000459929.1_5'UTR	p.L491L	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			13	2093	-			491					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Silent	SNP	ENST00000367498.3	37	c.1471T>C	CCDS1368.1																																																																																				0.353	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		10	58	0	0	0	0.335167	0	10	58				
PITPNM3	83394	broad.mit.edu	37	17	6381355	6381355	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:6381355C>T	ENST00000262483.8	-	8	927	c.840G>A	c.(838-840)gcG>gcA	p.A280A	PITPNM3_ENST00000421306.3_Silent_p.A244A	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	280	Ser-rich.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.A280A(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CTGAGGGCCCCGCACTGTAGC	0.672																																						ENST00000262483.8																			2	Substitution - coding silent(2)	p.A280A(2)	prostate(2)								c.(838-840)gcG>gcA									56.0	63.0	60.0					17																	6381355		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:6381355C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.840G>A	17.37:g.6381355C>T						ACKR6_ENST00000421306.3_Silent_p.A244A	p.A280A	NM_031220.3	NP_112497.2					8	927	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.840G>A	CCDS11076.1																																																																																				0.672	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		21	141	0	0	0	0.624587	0	21	141				
PCDHA2	56146	broad.mit.edu	37	5	140176233	140176233	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140176233G>A	ENST00000526136.1	+	1	1684	c.1684G>A	c.(1684-1686)Gcg>Acg	p.A562T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A562T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A562T|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	562	Cadherin 5. {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)	p.A562T(4)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCACT	0.697																																						ENST00000526136.1																			4	Substitution - Missense(4)	p.A562T(4)	large_intestine(2)|prostate(2)	NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1684-1686)Gcg>Acg									86.0	84.0	85.0					5																	140176233		2203	4298	6501	SO:0001583	missense	0							g.chr5:140176233G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1684G>A	5.37:g.140176233G>A	ENSP00000431748:p.Ala562Thr					PCDHA2_ENST00000520672.2_Missense_Mutation_p.A562T|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A562T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A562T	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1684	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1684G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	19.52	3.842971	0.71488	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.43294	0.95;0.95;0.95	4.05	3.1	0.35709	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.39475	U	0.001345	T	0.52661	0.1748	M	0.65975	2.015	0.32499	N	0.539106	D;P;D	0.60160	0.965;0.609;0.987	P;B;P	0.54140	0.743;0.082;0.743	T	0.67133	-0.5747	10	0.54805	T	0.06	.	13.8621	0.63566	0.0:0.1536:0.8464:0.0	.	562;562;562	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	562	ENSP00000430584:A562T;ENSP00000367372:A562T;ENSP00000431748:A562T	ENSP00000367372:A562T	A	+	1	0	PCDHA2	140156417	0.887000	0.30362	0.998000	0.56505	0.724000	0.41520	1.626000	0.37039	1.989000	0.58080	0.644000	0.83932	GCG		0.697	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		13	216	0	0	0	0.500413	0	13	216				
ZC2HC1A	51101	broad.mit.edu	37	8	79629650	79629650	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:79629650C>T	ENST00000263849.4	+	9	1002	c.900C>T	c.(898-900)tgC>tgT	p.C300C	IL7_ENST00000519833.1_5'Flank	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	300							metal ion binding (GO:0046872)										CAAAATTCTGCCATGAGTGTG	0.373																																						ENST00000263849.4																			0											c.(898-900)tgC>tgT		zinc finger, C2HC-type containing 1A							158.0	159.0	159.0					8																	79629650		2203	4300	6503	SO:0001819	synonymous_variant	51101							g.chr8:79629650C>T		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.900C>T	8.37:g.79629650C>T							p.C300C	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			9	1002	+			300					Q9Y372	Silent	SNP	ENST00000263849.4	37	c.900C>T	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	C	8.816	0.936444	0.18206	.	.	ENSG00000104427	ENST00000519307	.	.	.	5.14	4.27	0.50696	.	.	.	.	.	T	0.60508	0.2274	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58137	-0.7689	4	.	.	.	-8.4047	10.1636	0.42866	0.0:0.8462:0.0:0.1538	.	.	.	.	S	172	.	.	P	+	1	0	FAM164A	79792205	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.838000	0.39211	1.299000	0.44798	0.591000	0.81541	CCA		0.373	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		8	243	0	0	0	0.307466	0	8	243				
NUMA1	4926	broad.mit.edu	37	11	71725778	71725778	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:71725778C>T	ENST00000393695.3	-	15	3102	c.2771G>A	c.(2770-2772)cGc>cAc	p.R924H	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.R924H|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.R924H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACCTGCCTTGCGCACCAAGGT	0.602			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - Missense(1)	p.R924H(1)	prostate(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(2770-2772)cGc>cAc		nuclear mitotic apparatus protein 1							57.0	57.0	57.0					11																	71725778		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725778C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2771G>A	11.37:g.71725778C>T	ENSP00000377298:p.Arg924His					NUMA1_ENST00000358965.6_Missense_Mutation_p.R924H|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	p.R924H	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3102	-			924						Missense_Mutation	SNP	ENST00000393695.3	37	c.2771G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669017	0.67814	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652	T;T	0.14391	2.51;2.52	5.69	3.76	0.43208	.	0.095304	0.44097	D	0.000496	T	0.23492	0.0568	L	0.46157	1.445	0.27555	N	0.950378	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	P;D;P;P	0.63703	0.855;0.917;0.855;0.855	T	0.02202	-1.1196	9	.	.	.	.	8.0505	0.30575	0.1346:0.7303:0.0:0.1352	.	930;408;924;924	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	H	924;924;487	ENSP00000351851:R924H;ENSP00000377298:R924H	.	R	-	2	0	NUMA1	71403426	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.218000	0.17622	1.349000	0.45751	0.655000	0.94253	CGC		0.602	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			9	144	0	0	0	0.361761	0	9	144				
KCNK13	56659	broad.mit.edu	37	14	90650708	90650708	+	Silent	SNP	C	C	T	rs114616148	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:90650708C>T	ENST00000282146.4	+	2	1029	c.588C>T	c.(586-588)taC>taT	p.Y196Y		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	196					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.Y196Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCGTGTACTACGTCATGCTGA	0.612													T|||	2	0.000399361	0.0	0.0	5008	,	,		19589	0.002		0.0	False		,,,				2504	0.0					ENST00000282146.4																			1	Substitution - coding silent(1)	p.Y196Y(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(586-588)taC>taT		potassium channel, subfamily K, member 13							149.0	125.0	133.0					14																	90650708		2203	4300	6503	SO:0001819	synonymous_variant	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650708C>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.588C>T	14.37:g.90650708C>T							p.Y196Y	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1029	+		all_cancers(154;0.186)	196					B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	c.588C>T	CCDS9889.1																																																																																				0.612	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		20	243	0	0	0	0.592651	0	20	243				
TCAIM	285343	broad.mit.edu	37	3	44442728	44442728	+	Silent	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:44442728G>T	ENST00000342649.4	+	10	1579	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	TCAIM_ENST00000417237.1_Silent_p.G384G	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	384						mitochondrion (GO:0005739)											ATGAACTCGGGCATTTTAATA	0.413																																						ENST00000342649.4																			0											c.(1150-1152)ggG>ggT		T cell activation inhibitor, mitochondrial							146.0	139.0	141.0					3																	44442728		2203	4300	6503	SO:0001819	synonymous_variant	285343							g.chr3:44442728G>T		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1152G>T	3.37:g.44442728G>T						TCAIM_ENST00000417237.1_Silent_p.G384G	p.G384G	NM_173826.3	NP_776187.2					10	1579	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	c.1152G>T	CCDS2712.1																																																																																				0.413	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		8	167	1	0	1.12685e-05	0.307466	1.20817e-05	8	167				
TRIM32	22954	broad.mit.edu	37	9	119461051	119461051	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:119461051C>T	ENST00000450136.1	+	2	1191	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R344W|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	344					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R344W(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TGCTAAACAGCGGGGTCCTGA	0.557																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			2	Substitution - Missense(2)	p.R344W(2)	prostate(2)	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1030-1032)Cgg>Tgg		tripartite motif containing 32							47.0	52.0	50.0					9																	119461051		2203	4300	6503	SO:0001583	missense	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461051C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1030C>T	9.37:g.119461051C>T	ENSP00000408292:p.Arg344Trp					ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R344W|ASTN2_ENST00000373996.3_Intron	p.R344W	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	1191	+			344					Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.1030C>T	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.146885	0.37923	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.83673	-1.75;-1.75	5.05	2.83	0.33086	.	0.248562	0.32002	N	0.006728	T	0.75295	0.3830	N	0.19112	0.55	0.39811	D	0.972707	D	0.62365	0.991	P	0.50378	0.639	T	0.73538	-0.3951	9	.	.	.	-12.7734	10.6704	0.45755	0.5435:0.4565:0.0:0.0	.	344	Q13049	TRI32_HUMAN	W	344	ENSP00000408292:R344W;ENSP00000363095:R344W	.	R	+	1	2	TRIM32	118500872	0.998000	0.40836	0.999000	0.59377	0.709000	0.40893	1.109000	0.31135	1.194000	0.43101	0.650000	0.86243	CGG		0.557	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		5	113	0	0	0	0.184627	0	5	113				
FLNA	2316	broad.mit.edu	37	X	153587627	153587627	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:153587627G>A	ENST00000369850.3	-	25	4526	c.4290C>T	c.(4288-4290)ggC>ggT	p.G1430G	FLNA_ENST00000344736.4_Silent_p.G1430G|FLNA_ENST00000360319.4_Silent_p.G1430G|FLNA_ENST00000422373.1_Silent_p.G1430G|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1430					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.G1430G(2)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCACTTGATGGCCACCATAGG	0.612																																						ENST00000422373.1																			2	Substitution - coding silent(2)	p.G1430G(2)	prostate(2)	breast(6)	6						c.(4288-4290)ggC>ggT		filamin A, alpha							53.0	58.0	56.0					X																	153587627		2128	4220	6348	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587627G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4290C>T	X.37:g.153587627G>A						FLNA_ENST00000369850.3_Silent_p.G1430G|FLNA_ENST00000344736.4_Silent_p.G1430G|FLNA_ENST00000360319.4_Silent_p.G1430G	p.G1430G	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			25	4538	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1430					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4290C>T	CCDS48194.1																																																																																				0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			9	69	0	0	0	0.361761	0	9	69				
PCDHB15	56121	broad.mit.edu	37	5	140626634	140626634	+	Silent	SNP	G	G	A	rs546282724	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140626634G>A	ENST00000231173.3	+	1	1488	c.1488G>A	c.(1486-1488)ccG>ccA	p.P496P		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	496	Cadherin 5. {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)			CCCGGGACCCGCACCTGCCCC	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		13906	0.001		0.0	False		,,,				2504	0.001					ENST00000231173.3																			0				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						c.(1486-1488)ccG>ccA									76.0	89.0	85.0					5																	140626634		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626634G>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.1488G>A	5.37:g.140626634G>A							p.P496P	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1488	+			496			Cadherin 5.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.1488G>A	CCDS4257.1																																																																																				0.657	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		7	327	0	0	0	0.278610	0	7	327				
MYH15	22989	broad.mit.edu	37	3	108229289	108229289	+	Splice_Site	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:108229289C>T	ENST00000273353.3	-	2	205		c.e2+1			NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACATGTCTCACCATCCAAGGC	0.463																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.e2+1		myosin, heavy chain 15							87.0	88.0	87.0					3																	108229289		1958	4155	6113	SO:0001630	splice_region_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108229289C>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.148+1G>A	3.37:g.108229289C>T								NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			2	205	-									Splice_Site	SNP	ENST00000273353.3	37		CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070447	0.36566	.	.	ENSG00000144821	ENST00000273353	.	.	.	4.53	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2387	0.37481	0.0:0.7693:0.148:0.0827	.	.	.	.	.	-1	.	.	.	-	.	.	MYH15	109711979	1.000000	0.71417	0.840000	0.33206	0.052000	0.14988	2.908000	0.48750	0.820000	0.34516	0.467000	0.42956	.		0.463	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	Intron	4	104	0	0	0	0.150653	0	4	104				
NDUFS6	4726	broad.mit.edu	37	5	1814479	1814479	+	Silent	SNP	G	G	A	rs35349407		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:1814479G>A	ENST00000274137.5	+	3	231	c.213G>A	c.(211-213)ttG>ttA	p.L71L	NDUFS6_ENST00000469176.1_Silent_p.L71L	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	71					cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.L71L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						CCATTGATTTGATAGCAGAGC	0.468																																						ENST00000274137.5																			1	Substitution - coding silent(1)	p.L71L(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(211-213)ttG>ttA		NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						148.0	138.0	141.0					5																	1814479		2203	4300	6503	SO:0001819	synonymous_variant	4726				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:1814479G>A	BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7713	protein-coding gene	gene with protein product	"""complex I 13kDa subunit A"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"""	603848	"""NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.213G>A	5.37:g.1814479G>A						NDUFS6_ENST00000469176.1_Silent_p.L71L	p.L71L	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN			3	231	+			71						Silent	SNP	ENST00000274137.5	37	c.213G>A	CCDS3866.1																																																																																				0.468	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206744.2	NM_004553		7	147	0	0	0	0.278610	0	7	147				
ZNF574	64763	broad.mit.edu	37	19	42584668	42584668	+	Missense_Mutation	SNP	G	G	A	rs369881574		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:42584668G>A	ENST00000600245.1	+	2	2565	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	ZNF574_ENST00000359044.4_Missense_Mutation_p.R637H|ZNF574_ENST00000222339.7_Missense_Mutation_p.R727H|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	637					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R637H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAGCCCCACCGCTGCCCATCC	0.701																																						ENST00000600245.1																			1	Substitution - Missense(1)	p.R637H(1)	prostate(1)	endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1909-1911)cGc>cAc		zinc finger protein 574							45.0	49.0	48.0					19																	42584668		2202	4296	6498	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584668G>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1910G>A	19.37:g.42584668G>A	ENSP00000469029:p.Arg637His					ZNF574_ENST00000222339.7_Missense_Mutation_p.R727H|ZNF574_ENST00000359044.4_Missense_Mutation_p.R637H	p.R637H			Q6ZN55	ZN574_HUMAN			2	2565	+		Prostate(69;0.059)	637					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1910G>A	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503426	0.64298	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.15487	2.42;2.42	5.4	5.4	0.78164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.218621	0.39341	N	0.001400	T	0.34395	0.0896	L	0.39147	1.195	0.43540	D	0.995834	D;D	0.89917	0.999;1.0	D;D	0.70227	0.921;0.968	T	0.02519	-1.1147	10	0.59425	D	0.04	-26.3727	17.944	0.89034	0.0:0.0:1.0:0.0	.	637;726	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	H	727;637;244	ENSP00000222339:R727H;ENSP00000351939:R637H	ENSP00000222339:R727H	R	+	2	0	ZNF574	47276508	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.423000	0.07034	2.525000	0.85131	0.637000	0.83480	CGC		0.701	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		10	199	0	0	0	0.361761	0	10	199				
LAMC1	3915	broad.mit.edu	37	1	183106827	183106827	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:183106827A>C	ENST00000258341.4	+	26	4595	c.4338A>C	c.(4336-4338)gaA>gaC	p.E1446D	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1446	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E1446D(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CCAAGGCAGAAGCTGAAAGAA	0.373																																						ENST00000258341.4																			2	Substitution - Missense(2)	p.E1446D(2)	prostate(2)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(4336-4338)gaA>gaC		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						58.0	53.0	55.0					1																	183106827		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183106827A>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4338A>C	1.37:g.183106827A>C	ENSP00000258341:p.Glu1446Asp						p.E1446D	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			26	4595	+			1446			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.4338A>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842293	0.32513	.	.	ENSG00000135862	ENST00000258341	T	0.78003	-1.14	5.64	-4.14	0.03892	.	0.296309	0.40908	N	0.000998	T	0.50086	0.1595	N	0.21097	0.63	0.37877	D	0.930255	B	0.02656	0.0	B	0.01281	0.0	T	0.29822	-0.9999	10	0.09338	T	0.73	.	3.0482	0.06160	0.3194:0.098:0.3901:0.1925	.	1446	P11047	LAMC1_HUMAN	D	1446	ENSP00000258341:E1446D	ENSP00000258341:E1446D	E	+	3	2	LAMC1	181373450	0.019000	0.18553	0.911000	0.35937	0.997000	0.91878	-1.098000	0.03346	-0.696000	0.05098	0.533000	0.62120	GAA		0.373	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		8	66	0	0	0	0.307466	0	8	66				
MPP3	4356	broad.mit.edu	37	17	41891642	41891642	+	Missense_Mutation	SNP	G	G	A	rs374905234		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:41891642G>A	ENST00000398389.4	-	15	1262	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L	MPP3_ENST00000475450.1_5'UTR|MPP3_ENST00000398393.1_Missense_Mutation_p.P391L	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	366					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)	p.P366L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CAGCAGCTCCGGAGACTCAGC	0.632																																						ENST00000398393.1																			1	Substitution - Missense(1)	p.P366L(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1171-1173)cCg>cTg		membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)		G	LEU/PRO	1,3839		0,1,1919	89.0	100.0	97.0		1097	2.7	0.1	17		97	0,8260		0,0,4130	no	missense	MPP3	NM_001932.4	98	0,1,6049	AA,AG,GG		0.0,0.026,0.0083	benign	366/586	41891642	1,12099	1920	4130	6050	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41891642G>A		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1097C>T	17.37:g.41891642G>A	ENSP00000381425:p.Pro366Leu					MPP3_ENST00000398389.4_Missense_Mutation_p.P366L|MPP3_ENST00000475450.1_5'UTR	p.P391L			Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	13	1432	-		Breast(137;0.00394)	366			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1172C>T	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	G	8.745	0.919994	0.17982	2.6E-4	0.0	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.14893	2.47;2.47	5.83	2.73	0.32206	.	0.315399	0.35555	N	0.003122	T	0.06781	0.0173	N	0.08118	0	0.09310	N	0.999995	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.41251	-0.9519	10	0.11182	T	0.66	.	6.8909	0.24228	0.1448:0.0:0.71:0.1452	.	366;391	Q13368;D3DX46	MPP3_HUMAN;.	L	391;366	ENSP00000381430:P391L;ENSP00000381425:P366L	ENSP00000381425:P366L	P	-	2	0	MPP3	39247168	0.005000	0.15991	0.057000	0.19452	0.024000	0.10985	1.080000	0.30779	0.349000	0.23975	0.650000	0.86243	CCG		0.632	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		13	279	0	0	0	0.411799	0	13	279				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000372004.3_Silent_p.Q1258Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		5	88	0	0	0	0.184627	0	5	88				
TBC1D8	11138	broad.mit.edu	37	2	101656775	101656775	+	Silent	SNP	G	G	A	rs368260868		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:101656775G>A	ENST00000376840.4	-	6	899	c.900C>T	c.(898-900)caC>caT	p.H300H	TBC1D8_ENST00000409318.1_Silent_p.H315H			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	300	GRAM 2.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.H300H(1)|p.H315H(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCACAACCGCGTGCAGCTTCT	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17651	0.0		0.0	False		,,,				2504	0.0					ENST00000409318.1																			2	Substitution - coding silent(2)	p.H300H(1)|p.H315H(1)	prostate(2)	breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(943-945)caC>caT		TBC1 domain family, member 8 (with GRAM domain)		G		8,3986		0,8,1989	41.0	46.0	44.0		900	-3.6	0.0	2		44	0,8362		0,0,4181	no	coding-synonymous	TBC1D8	NM_001102426.1		0,8,6170	AA,AG,GG		0.0,0.2003,0.0647		300/1141	101656775	8,12348	1997	4181	6178	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101656775G>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.900C>T	2.37:g.101656775G>A						TBC1D8_ENST00000376840.4_Silent_p.H300H	p.H315H	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			6	1075	-			300			GRAM 2.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.945C>T	CCDS46375.1																																																																																				0.577	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		17	45	0	0	0	0.520397	0	17	45				
HOOK2	29911	broad.mit.edu	37	19	12881812	12881812	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:12881812C>T	ENST00000397668.3	-	10	909	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.R279Q	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	279	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.R279Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGCCTGGTTCCGGTGCTGCAG	0.652																																						ENST00000264827.5																			1	Substitution - Missense(1)	p.R279Q(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(835-837)cGg>cAg		hook microtubule-tethering protein 2							32.0	37.0	36.0					19																	12881812		2062	4198	6260	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12881812C>T	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.836G>A	19.37:g.12881812C>T	ENSP00000380785:p.Arg279Gln					HOOK2_ENST00000397668.3_Missense_Mutation_p.R279Q|HOOK2_ENST00000589965.1_Intron	p.R279Q	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			10	1006	-			279			Sufficient for interaction with microtubules.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.836G>A	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	c	19.28	3.797502	0.70567	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.22336	1.96;1.96	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	L	0.58669	1.825	0.39931	D	0.974285	D;D	0.89917	1.0;1.0	D;D	0.75020	0.975;0.985	T	0.22277	-1.0221	10	0.32370	T	0.25	-38.4582	16.6404	0.85070	0.0:1.0:0.0:0.0	.	279;279	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	Q	279	ENSP00000380785:R279Q;ENSP00000264827:R279Q	ENSP00000264827:R279Q	R	-	2	0	HOOK2	12742812	0.835000	0.29415	1.000000	0.80357	0.928000	0.56348	1.526000	0.35964	2.224000	0.72417	0.454000	0.30748	CGG		0.652	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		4	57	0	0	0	0.150653	0	4	57				
MYH13	8735	broad.mit.edu	37	17	10212613	10212613	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:10212613G>A	ENST00000418404.3	-	34	5270	c.5107C>T	c.(5107-5109)Cgc>Tgc	p.R1703C	MYH13_ENST00000252172.4_Missense_Mutation_p.R1703C|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1703					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1703S(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GACAGCCTGCGGGTCCGCTCC	0.667																																						ENST00000418404.3																			2	Substitution - Missense(2)	p.R1703S(2)	lung(2)	breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5107-5109)Cgc>Tgc		myosin, heavy chain 13, skeletal muscle							27.0	29.0	28.0					17																	10212613		2126	4243	6369	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10212613G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5107C>T	17.37:g.10212613G>A	ENSP00000404570:p.Arg1703Cys					MYH13_ENST00000252172.4_Missense_Mutation_p.R1703C|MYH13_ENST00000570743.1_Missense_Mutation_p.R1703C	p.R1703C			Q9UKX3	MYH13_HUMAN			34	5270	-			1703					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5107C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069822	0.76301	.	.	ENSG00000006788	ENST00000252172	D	0.85013	-1.93	4.45	4.45	0.53987	Myosin tail (1);	.	.	.	.	D	0.93687	0.7983	M	0.90595	3.13	0.51012	D	0.999908	D	0.89917	1.0	D	0.97110	1.0	D	0.94923	0.8075	9	0.72032	D	0.01	.	17.6487	0.88157	0.0:0.0:1.0:0.0	.	1703	Q9UKX3	MYH13_HUMAN	C	1703	ENSP00000252172:R1703C	ENSP00000252172:R1703C	R	-	1	0	MYH13	10153338	0.979000	0.34478	1.000000	0.80357	0.953000	0.61014	2.112000	0.41892	2.465000	0.83290	0.655000	0.94253	CGC		0.667	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		4	48	0	0	0	0.217242	0	4	48				
TRPV4	59341	broad.mit.edu	37	12	110226321	110226321	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:110226321G>T	ENST00000418703.2	-	12	2186	c.2092C>A	c.(2092-2094)Ctg>Atg	p.L698M	TRPV4_ENST00000537083.1_Missense_Mutation_p.L638M|TRPV4_ENST00000261740.2_Missense_Mutation_p.L698M|TRPV4_ENST00000544971.1_Missense_Mutation_p.L591M|TRPV4_ENST00000392719.2_Missense_Mutation_p.L651M|TRPV4_ENST00000346520.2_Missense_Mutation_p.L638M|TRPV4_ENST00000541794.1_Missense_Mutation_p.L651M|TRPV4_ENST00000536838.1_Missense_Mutation_p.L664M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	698					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.L698M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTCACCAGCAGGATGATGAAG	0.567																																						ENST00000418703.2																			1	Substitution - Missense(1)	p.L698M(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(2092-2094)Ctg>Atg		transient receptor potential cation channel, subfamily V, member 4							220.0	170.0	187.0					12																	110226321		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110226321G>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2092C>A	12.37:g.110226321G>T	ENSP00000406191:p.Leu698Met					TRPV4_ENST00000541794.1_Missense_Mutation_p.L651M|TRPV4_ENST00000536838.1_Missense_Mutation_p.L664M|TRPV4_ENST00000346520.2_Missense_Mutation_p.L638M|TRPV4_ENST00000261740.2_Missense_Mutation_p.L698M|TRPV4_ENST00000392719.2_Missense_Mutation_p.L651M|TRPV4_ENST00000544971.1_Missense_Mutation_p.L591M|TRPV4_ENST00000537083.1_Missense_Mutation_p.L638M	p.L698M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			12	2186	-			698					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.2092C>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100189	0.76983	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05	5.71	4.81	0.61882	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.998;0.999	D	0.98805	1.0741	10	0.62326	D	0.03	-17.0325	13.7593	0.62956	0.0757:0.0:0.9243:0.0	.	638;698;591;651;664	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	M	698;698;651;638;591;638;651;664	ENSP00000406191:L698M;ENSP00000261740:L698M;ENSP00000376480:L651M;ENSP00000319003:L638M;ENSP00000443611:L591M;ENSP00000442738:L638M;ENSP00000442167:L651M;ENSP00000444336:L664M	ENSP00000261740:L698M	L	-	1	2	TRPV4	108710704	1.000000	0.71417	0.987000	0.45799	0.925000	0.55904	7.640000	0.83355	2.694000	0.91930	0.655000	0.94253	CTG		0.567	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		18	184	1	0	5.35267e-07	0.557998	5.79872e-07	18	184				
MMRN2	79812	broad.mit.edu	37	10	88702968	88702968	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:88702968G>A	ENST00000372027.5	-	6	1894	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	525					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R525W(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGCTGCCGCCGCTCGTCCAGG	0.697																																						ENST00000372027.4																			1	Substitution - Missense(1)	p.R525W(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(1573-1575)Cgg>Tgg		multimerin 2							26.0	24.0	25.0					10																	88702968		2201	4296	6497	SO:0001583	missense	79812					extracellular space		g.chr10:88702968G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1573C>T	10.37:g.88702968G>A	ENSP00000361097:p.Arg525Trp						p.R525W	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			6	1646	-			525					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.1573C>T	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325316	0.41197	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.71103	-0.54	5.69	5.69	0.88448	.	0.829341	0.10794	N	0.633368	T	0.68192	0.2974	L	0.50333	1.59	0.09310	N	1	D;D;D	0.62365	0.991;0.978;0.991	B;B;B	0.44315	0.446;0.425;0.328	T	0.63629	-0.6594	10	0.66056	D	0.02	-21.4922	10.6938	0.45886	0.0862:0.0:0.9138:0.0	.	303;464;525	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	W	525;303	ENSP00000361097:R525W	ENSP00000361097:R525W	R	-	1	2	MMRN2	88692948	0.057000	0.20700	0.205000	0.23548	0.510000	0.34073	1.575000	0.36493	2.687000	0.91594	0.462000	0.41574	CGG		0.697	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		6	43	0	0	0	0.217242	0	6	43				
GPX2	2877	broad.mit.edu	37	14	65409312	65409312	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:65409312G>A	ENST00000389614.5	-	1	219	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	45					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GTGAAGTCCCGGGTGGTTGTG	0.587																																						ENST00000389614.5																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(133-135)Cgg>Tgg		glutathione peroxidase 2 (gastrointestinal)	Glutathione(DB00143)						74.0	81.0	79.0					14																	65409312		1996	4147	6143	SO:0001583	missense	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65409312G>A		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.133C>T	14.37:g.65409312G>A	ENSP00000374265:p.Arg45Trp					CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	p.R45W	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	1	219	-			45					Q6PJ52|Q8WWI7|Q9NRP9	Missense_Mutation	SNP	ENST00000389614.5	37	c.133C>T	CCDS41964.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304881	0.60305	.	.	ENSG00000176153	ENST00000389614	T	0.23950	1.88	5.56	4.66	0.58398	Thioredoxin-like fold (2);	0.000000	0.39407	U	0.001375	T	0.40909	0.1136	M	0.86651	2.83	0.80722	D	1	P	0.49253	0.921	P	0.48189	0.57	T	0.46938	-0.9155	10	0.87932	D	0	-12.0438	8.9786	0.35950	0.0:0.141:0.5852:0.2738	.	45	P18283	GPX2_HUMAN	W	45	ENSP00000374265:R45W	ENSP00000374265:R45W	R	-	1	2	GPX2	64479065	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	2.162000	0.42367	1.329000	0.45376	-0.302000	0.09304	CGG		0.587	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			4	142	0	0	0	0.184627	0	4	142				
ALS2CL	259173	broad.mit.edu	37	3	46724745	46724745	+	Silent	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:46724745C>A	ENST00000318962.4	-	10	1067	c.984G>T	c.(982-984)ctG>ctT	p.L328L	ALS2CL_ENST00000415953.1_Silent_p.L328L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	328					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCCAGCCCCCAGCACGGGGA	0.672																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(982-984)ctG>ctT		ALS2 C-terminal like							17.0	21.0	19.0					3																	46724745		2203	4299	6502	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46724745C>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.984G>T	3.37:g.46724745C>A						ALS2CL_ENST00000415953.1_Silent_p.L328L	p.L328L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	10	1067	-			328					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.984G>T	CCDS2743.1																																																																																				0.672	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		3	22	1	0	0.004672	0.115264	0.0048833	3	22				
MUS81	80198	broad.mit.edu	37	11	65633329	65633329	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:65633329C>T	ENST00000308110.4	+	15	1902	c.1553C>T	c.(1552-1554)aCa>aTa	p.T518I	EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000525006.1_3'UTR|MUS81_ENST00000533035.1_Missense_Mutation_p.T443I	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	518					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GAACAAGAGACACTGCTGAGC	0.637								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(1552-1554)aCa>aTa	Homologous recombination	MUS81 structure-specific endonuclease subunit							99.0	101.0	101.0					11																	65633329		2201	4296	6497	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65633329C>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1553C>T	11.37:g.65633329C>T	ENSP00000307853:p.Thr518Ile					MUS81_ENST00000525006.1_3'UTR|MUS81_ENST00000533035.1_Missense_Mutation_p.T443I	p.T518I	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	15	1902	+			518					Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.1553C>T	CCDS8115.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055692	0.36277	.	.	ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855;ENST00000529742	T;T;T	0.44482	2.49;2.72;0.92	5.23	-2.49	0.06403	.	0.470755	0.24085	N	0.041690	T	0.19248	0.0462	N	0.24115	0.695	0.22266	N	0.999245	B	0.15930	0.015	B	0.15870	0.014	T	0.05289	-1.0894	10	0.38643	T	0.18	-3.4303	1.0271	0.01530	0.2399:0.3573:0.1321:0.2708	.	518	Q96NY9	MUS81_HUMAN	I	443;518;518;51	ENSP00000432287:T443I;ENSP00000307853:T518I;ENSP00000435277:T51I	ENSP00000307853:T518I	T	+	2	0	MUS81	65389905	0.992000	0.36948	0.935000	0.37517	0.680000	0.39746	0.177000	0.16801	-0.044000	0.13491	0.561000	0.74099	ACA		0.637	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		5	217	0	0	0	0.184627	0	5	217				
PTGER2	5732	broad.mit.edu	37	14	52781586	52781586	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:52781586G>A	ENST00000245457.5	+	1	474	c.320G>A	c.(319-321)cGc>cAc	p.R107H	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	107					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CCCGAGAGCCGCGCGTGCACC	0.647																																						ENST00000245457.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(319-321)cGc>cAc		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						43.0	39.0	41.0					14																	52781586		2191	4277	6468	SO:0001583	missense	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781586G>A		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.320G>A	14.37:g.52781586G>A	ENSP00000245457:p.Arg107His					PTGER2_ENST00000557436.1_Intron	p.R107H	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN			1	474	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		107					D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.320G>A	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.470132	0.26423	.	.	ENSG00000125384	ENST00000245457	T	0.71579	-0.58	5.09	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.662303	0.15967	N	0.235991	T	0.53334	0.1790	L	0.35723	1.085	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.33033	-0.9884	10	0.13470	T	0.59	-7.4094	5.3613	0.16089	0.1739:0.0:0.6661:0.1599	.	107	P43116	PE2R2_HUMAN	H	107	ENSP00000245457:R107H	ENSP00000245457:R107H	R	+	2	0	PTGER2	51851336	0.000000	0.05858	0.674000	0.29902	0.967000	0.64934	0.187000	0.16998	0.631000	0.30412	0.563000	0.77884	CGC		0.647	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			4	114	0	0	0	0.150653	0	4	114				
CCDC157	550631	broad.mit.edu	37	22	30768247	30768247	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr22:30768247G>A	ENST00000405659.1	+	7	2016	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Missense_Mutation_p.R436H			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	436										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GAGAAGGCCCGTGTCGACAGC	0.662																																						ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(1306-1308)cGt>cAt		coiled-coil domain containing 157							15.0	17.0	16.0					22																	30768247		2200	4297	6497	SO:0001583	missense	550631							g.chr22:30768247G>A	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1307G>A	22.37:g.30768247G>A	ENSP00000385357:p.Arg436His					CCDC157_ENST00000338306.3_Missense_Mutation_p.R436H	p.R436H			Q569K6	CC157_HUMAN			7	2016	+			436					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.1307G>A	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290525	0.59976	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.37752	1.18;1.18	4.91	3.84	0.44239	.	0.191346	0.35207	N	0.003380	T	0.45498	0.1345	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.17776	-1.0358	10	0.30078	T	0.28	-15.1878	7.719	0.28721	0.1894:0.0:0.8106:0.0	.	436	Q569K6	CC157_HUMAN	H	436	ENSP00000385357:R436H;ENSP00000343087:R436H	ENSP00000343087:R436H	R	+	2	0	CCDC157	29098247	0.998000	0.40836	0.954000	0.39281	0.623000	0.37688	3.238000	0.51352	2.549000	0.85964	0.563000	0.77884	CGT		0.662	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		5	15	0	0	0	0.217242	0	5	15				
DHX37	57647	broad.mit.edu	37	12	125465071	125465071	+	Missense_Mutation	SNP	C	C	T	rs373907134		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:125465071C>T	ENST00000308736.2	-	4	801	c.703G>A	c.(703-705)Gtc>Atc	p.V235I	DHX37_ENST00000544745.1_Missense_Mutation_p.V22I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	235							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGATGAAGACGGCGGGCTTA	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17533	0.0		0.0	False		,,,				2504	0.001					ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(703-705)Gtc>Atc		DEAH (Asp-Glu-Ala-His) box polypeptide 37		C	ILE/VAL	0,4406		0,0,2203	47.0	50.0	49.0		703	1.4	0.3	12		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX37	NM_032656.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	235/1158	125465071	1,13005	2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465071C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.703G>A	12.37:g.125465071C>T	ENSP00000311135:p.Val235Ile					DHX37_ENST00000544745.1_Missense_Mutation_p.V22I	p.V235I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	801	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		235					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.703G>A	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	6.653	0.488899	0.12641	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03272	4.08;3.99	5.37	1.36	0.22044	.	0.300139	0.36444	N	0.002598	T	0.02533	0.0077	N	0.20986	0.625	0.40999	D	0.984918	B	0.24768	0.111	B	0.17722	0.019	T	0.53322	-0.8455	10	0.30854	T	0.27	-18.5216	8.0916	0.30803	0.0:0.6499:0.0:0.3501	.	235	Q8IY37	DHX37_HUMAN	I	235;22	ENSP00000311135:V235I;ENSP00000439009:V22I	ENSP00000311135:V235I	V	-	1	0	DHX37	124031024	0.005000	0.15991	0.337000	0.25536	0.004000	0.04260	-0.012000	0.12699	0.585000	0.29608	0.655000	0.94253	GTC		0.647	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		4	81	0	0	0	0.184627	0	4	81				
AQP7	364	broad.mit.edu	37	9	33385585	33385585	+	Missense_Mutation	SNP	C	C	A	rs373454335		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:33385585C>A	ENST00000541274.1	-	5	859	c.410G>T	c.(409-411)gGg>gTg	p.G137V	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CACCCCCCACCCCTCAACACA	0.602																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(409-411)gGg>gTg		aquaporin 7																																				SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385585C>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.410G>T	9.37:g.33385585C>A	ENSP00000438860:p.Gly137Val					AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.G137V			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	859	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.410G>T		.	.	.	.	.	.	.	.	.	.	c	6.340	0.430890	0.12045	.	.	ENSG00000165269	ENST00000541274	T	0.58940	0.3	4.16	-1.14	0.09741	.	.	.	.	.	T	0.40145	0.1105	.	.	.	0.09310	N	1	B	0.34372	0.451	B	0.31686	0.134	T	0.32929	-0.9888	8	0.87932	D	0	.	3.9387	0.09316	0.0:0.3773:0.1846:0.4381	.	137	B7Z7F6	.	V	137	ENSP00000438860:G137V	ENSP00000438860:G137V	G	-	2	0	AQP7	33375585	0.004000	0.15560	0.024000	0.17045	0.041000	0.13682	0.014000	0.13333	-0.108000	0.12066	-0.270000	0.10280	GGG		0.602	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	125	1	0	0.00307968	0.278610	0.00323522	4	125				
ENTPD6	955	broad.mit.edu	37	20	25195565	25195565	+	Silent	SNP	C	C	T	rs146741054		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr20:25195565C>T	ENST00000376652.4	+	6	823	c.660C>T	c.(658-660)aaC>aaT	p.N220N	ENTPD6_ENST00000433259.2_Silent_p.N220N|ENTPD6_ENST00000354989.5_Silent_p.N203N|Y_RNA_ENST00000365544.1_RNA|ENTPD6_ENST00000360031.2_Silent_p.N219N			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	220					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCATCATGAACGGAACAGATG	0.463																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(655-657)aaC>aaT		ectonucleoside triphosphate diphosphohydrolase 6 (putative)		C	,	0,4406		0,0,2203	98.0	87.0	91.0		609,660	-3.5	1.0	20	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ENTPD6	NM_001114089.1,NM_001247.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	203/468,220/485	25195565	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25195565C>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.660C>T	20.37:g.25195565C>T						ENTPD6_ENST00000376652.4_Silent_p.N220N|ENTPD6_ENST00000433259.2_Silent_p.N220N|ENTPD6_ENST00000354989.5_Silent_p.N203N	p.N219N	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			6	839	+			220					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Silent	SNP	ENST00000376652.4	37	c.657C>T	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.720|9.720	1.159331|1.159331	0.21454|0.21454	0.0|0.0	1.16E-4|1.16E-4	ENSG00000197586|ENSG00000197586	ENST00000376666|ENST00000433417;ENST00000427553;ENST00000447877	.|.	.|.	.|.	6.0|6.0	-3.51|-3.51	0.04696|0.04696	.|.	.|.	.|.	.|.	.|.	T|T	0.57359|0.57359	0.2048|0.2048	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.58115|0.58115	-0.7693|-0.7693	4|4	.|.	.|.	.|.	-1.8106|-1.8106	12.281|12.281	0.54762|0.54762	0.0:0.2715:0.0:0.7285|0.0:0.2715:0.0:0.7285	.|.	.|.	.|.	.|.	W|M	44|141;78;113	.|.	.|.	R|T	+|+	1|2	2|0	ENTPD6|ENTPD6	25143565|25143565	0.107000|0.107000	0.21998|0.21998	0.964000|0.964000	0.40570|0.40570	0.984000|0.984000	0.73092|0.73092	-0.884000|-0.884000	0.04166|0.04166	-0.446000|-0.446000	0.07149|0.07149	-0.192000|-0.192000	0.12808|0.12808	CGG|ACG		0.463	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			4	63	0	0	0	0.150653	0	4	63				
UBR4	23352	broad.mit.edu	37	1	19467923	19467923	+	Frame_Shift_Del	DEL	G	G	-	rs145307465		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:19467923delG	ENST00000375254.3	-	57	8433	c.8406delC	c.(8404-8406)cccfs	p.P2802fs	UBR4_ENST00000375217.2_Frame_Shift_Del_p.P2830fs|UBR4_ENST00000375267.2_Frame_Shift_Del_p.P2802fs|UBR4_ENST00000375226.2_Frame_Shift_Del_p.P2813fs	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2802					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTCCAGCATGGGGGGGAAGC	0.587																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8404-8406)ccfs		ubiquitin protein ligase E3 component n-recognin 4							80.0	80.0	80.0					1																	19467923		2203	4300	6503	SO:0001589	frameshift_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19467923delG	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8406delC	1.37:g.19467923delG	ENSP00000364403:p.Pro2802fs					UBR4_ENST00000375226.2_Frame_Shift_Del_p.P2813fs|UBR4_ENST00000375217.2_Frame_Shift_Del_p.P2830fs|UBR4_ENST00000375254.3_Frame_Shift_Del_p.P2802fs	p.P2802fs			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	57	8409	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2802					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Frame_Shift_Del	DEL	ENST00000375254.3	37	c.8406delC	CCDS189.1																																																																																				0.587	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		9	178						9	178	---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62740427	62740427	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:62740427delG	ENST00000371153.4	-	3	727	c.349delC	c.(349-351)cagfs	p.Q117fs	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	117						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTTGAGGCCTGGGGGGCATTA	0.607																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(349-351)agfs		KN motif and ankyrin repeat domains 4							41.0	48.0	45.0					1																	62740427		2198	4299	6497	SO:0001589	frameshift_variant	163782							g.chr1:62740427delG	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.349delC	1.37:g.62740427delG	ENSP00000360195:p.Gln117fs					KANK4_ENST00000354381.3_Intron	p.Q117fs	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	727	-			117					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Frame_Shift_Del	DEL	ENST00000371153.4	37	c.349delC	CCDS620.1																																																																																				0.607	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		15	53						15	53	---	---	---	---
TP53BP2	7159	broad.mit.edu	37	1	223985959	223985959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:223985959delC	ENST00000343537.7	-	12	2197	c.1906delG	c.(1906-1908)gcgfs	p.A636fs	TP53BP2_ENST00000391878.2_Frame_Shift_Del_p.A507fs|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	630					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTGGTCAACGCGCTCTGCACA	0.478																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(1519-1521)cgfs		tumor protein p53 binding protein, 2							126.0	124.0	125.0					1																	223985959		2203	4300	6503	SO:0001589	frameshift_variant	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223985959delC	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1906delG	1.37:g.223985959delC	ENSP00000341957:p.Ala636fs					TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Frame_Shift_Del_p.A636fs	p.A507fs	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2287	-			630					B4DG66|Q12892|Q86X75|Q96KQ3	Frame_Shift_Del	DEL	ENST00000343537.7	37	c.1519delG	CCDS44319.1																																																																																				0.478	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		9	241						9	241	---	---	---	---
OR2M7	391196	broad.mit.edu	37	1	248487570	248487570	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:248487570delT	ENST00000317965.2	-	1	329	c.301delA	c.(301-303)attfs	p.I101fs		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGAAGAAAATTTGTGTGGCA	0.468																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(301-303)ttfs		olfactory receptor, family 2, subfamily M, member 7							187.0	196.0	193.0					1																	248487570		2203	4300	6503	SO:0001589	frameshift_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487570delT	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.301delA	1.37:g.248487570delT	ENSP00000324557:p.Ile101fs						p.I101fs	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	329	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		101					B2RNL0|Q6IEX6	Frame_Shift_Del	DEL	ENST00000317965.2	37	c.301delA	CCDS31111.1																																																																																				0.468	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		9	513						9	513	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43458187	43458187	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:43458187delA	ENST00000405006.4	-	38	6113	c.5762delT	c.(5761-5763)ttgfs	p.L1921fs	THADA_ENST00000405975.2_Frame_Shift_Del_p.L1921fs|THADA_ENST00000330266.7_Intron|AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000415080.2_Frame_Shift_Del_p.L1602fs	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1921										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTTTCCTTCCAAAAAGGCCAG	0.488																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(5761-5763)tgfs		thyroid adenoma associated							54.0	54.0	54.0					2																	43458187		1951	4146	6097	SO:0001589	frameshift_variant	63892						binding	g.chr2:43458187delA	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5762delT	2.37:g.43458187delA	ENSP00000385995:p.Leu1921fs					AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000415080.2_Frame_Shift_Del_p.L1602fs|THADA_ENST00000405975.2_Frame_Shift_Del_p.L1921fs|THADA_ENST00000330266.7_Intron	p.L1921fs	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			38	6113	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1921					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Frame_Shift_Del	DEL	ENST00000405006.4	37	c.5762delT	CCDS46268.1																																																																																				0.488	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		7	78						7	78	---	---	---	---
IL1F10	84639	broad.mit.edu	37	2	113832281	113832282	+	Intron	DEL	TC	TC	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:113832281_113832282delTC	ENST00000393197.2	+	3	539				IL1F10_ENST00000341010.2_Intron|IL1F10_ENST00000337569.3_Frame_Shift_Del_p.S34fs	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)							extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						CCTTGACTCTTCTCTCTCTTCC	0.584																																						ENST00000337569.3																			0				endometrium(1)|lung(6)|ovary(1)	8						c.(100-102)tfs		interleukin 1 family, member 10 (theta)																																				SO:0001627	intron_variant	84639					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113832281_113832282delTC	AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"""Interleukins and interleukin receptors"""	15552	protein-coding gene	gene with protein product	"""FIL1- theta"", ""interleukin-1 receptor antagonist FKSG75"""	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.119-18TC>-	2.37:g.113832287_113832288delTC						IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron	p.S34fs			Q8WWZ1	IL1FA_HUMAN			3	175_176	+			34					Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Frame_Shift_Del	DEL	ENST00000393197.2	37	c.100_101delTC	CCDS2112.1																																																																																				0.584	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1	NM_173161		16	321						16	321	---	---	---	---
PAX8	7849	broad.mit.edu	37	2	113970873	113970873	+	IGR	DEL	G	G	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:113970873delG	ENST00000429538.3	-	0	4084				AC016683.6_ENST00000456685.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8						anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AGAGGACAAAGgggagaggga	0.617			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000456685.1				Dom	yes		2	2q12-q14	7849		paired box gene 8	yes		E					0																																																	SO:0001628	intergenic_variant	0							g.chr2:113970873delG	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529		2.37:g.113970873delG														0	98	+								Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	RNA	DEL	ENST00000429538.3	37		CCDS46398.1																																																																																				0.617	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			2	4						2	4	---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144381770	144381770	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:144381770delT	ENST00000295095.6	+	12	1239	c.1072delT	c.(1072-1074)tttfs	p.F359fs		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	359	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ACTGAAGATGTTTTTCCGGGA	0.502																																						ENST00000295095.6																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(1072-1074)ttfs		Rho GTPase activating protein 15							103.0	96.0	98.0					2																	144381770		2203	4300	6503	SO:0001589	frameshift_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144381770delT	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1072delT	2.37:g.144381770delT	ENSP00000295095:p.Phe359fs						p.F359fs	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	12	1239	+			359			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Frame_Shift_Del	DEL	ENST00000295095.6	37	c.1072delT	CCDS2184.1																																																																																				0.502	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		15	87						15	87	---	---	---	---
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:36810381delT	ENST00000424886.1	-	0	405									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		GAGTGAGGCCttttttttttt	0.542																																						ENST00000424886.1																			0																																																			0							g.chr3:36810381delT			3p22.3	2010-06-25	2002-08-29	2008-09-22	ENSG00000230067	ENSG00000230067			5267	pseudogene	pseudogene			"""heat shock 60kD protein 1 (chaperonin) pseudogene 6"""	HSPDP6			Standard	NG_008828		Approved	HSPD1-6P			OTTHUMG00000155803		3.37:g.36810381delT														0	405	-									RNA	DEL	ENST00000424886.1	37																																																																																						0.542	HSPD1P6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341724.1	XR_017400		4	8						4	8	---	---	---	---
MST1R	4486	broad.mit.edu	37	3	49940112	49940112	+	Frame_Shift_Del	DEL	C	C	-	rs201805638		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:49940112delC	ENST00000296474.3	-	1	958	c.931delG	c.(931-933)gccfs	p.A311fs	CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	311	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTTCTGGGGCCCCCCGGCGC	0.667																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(931-933)ccfs		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							60.0	72.0	68.0					3																	49940112		2203	4300	6503	SO:0001589	frameshift_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940112delC	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.931delG	3.37:g.49940112delC	ENSP00000296474:p.Ala311fs					MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs|CTD-2330K9.2_ENST00000435478.1_RNA	p.A311fs	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	958	-			311			Sema.		B5A944|B5A945|B5A946|B5A947	Frame_Shift_Del	DEL	ENST00000296474.3	37	c.931delG	CCDS2807.1																																																																																				0.667	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			8	343						8	343	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71509665	71509666	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:71509665_71509666insAG	ENST00000396073.3	+	9	2803_2804	c.2522_2523insAG	c.(2521-2526)ccagagfs	p.PE841fs	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	841					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATGAATTCTCCAGAGAGAGAAC	0.421																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(2521-2523)cgafs		enamelin																																				SO:0001589	frameshift_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509665_71509666insAG	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2529_2530dupAG	4.37:g.71509672_71509673dupAG	ENSP00000379383:p.Pro841fs					ENAM_ENST00000472903.1_Intron	p.R841fs	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2803_2804	+			841					Q17RI5|Q9H3D1	Frame_Shift_Ins	INS	ENST00000396073.3	37	c.2522_2523insAG	CCDS3544.2																																																																																				0.421	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		15	145						15	145	---	---	---	---
TET2	54790	broad.mit.edu	37	4	106158589	106158589	+	Intron	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:106158589delT	ENST00000540549.1	+	3	4269				TET2_ENST00000305737.2_Frame_Shift_Del_p.F1165fs|TET2_ENST00000513237.1_Intron|TET2_ENST00000413648.2_Intron|TET2_ENST00000545826.1_Intron|TET2_ENST00000380013.4_Intron|TET2_ENST00000394764.1_Frame_Shift_Del_p.F1165fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2						5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTTTCCTTCTTTTTTTAAAT	0.368			"""Mis N, F"""		MDS																																	ENST00000305737.2				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(3490-3492)ttfs		tet methylcytosine dioxygenase 2							39.0	42.0	41.0					4																	106158589		2036	4229	6265	SO:0001627	intron_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106158589delT	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3409+81T>-	4.37:g.106158589delT						TET2_ENST00000413648.2_Intron|TET2_ENST00000545826.1_Intron|TET2_ENST00000380013.4_Intron|TET2_ENST00000394764.1_Frame_Shift_Del_p.F1165fs|TET2_ENST00000513237.1_Intron|TET2_ENST00000540549.1_Intron	p.F1165fs	NM_017628.4	NP_060098.3	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3894	+		Myeloproliferative disorder(5;0.0393)	0					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	ENST00000540549.1	37	c.3490delT	CCDS47120.1																																																																																				0.368	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		8	92						8	92	---	---	---	---
AGA	175	broad.mit.edu	37	4	178352896	178352896	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:178352896delT	ENST00000264595.2	-	9	1134	c.1007delA	c.(1006-1008)aatfs	p.N336fs	AGA_ENST00000506853.1_5'Flank	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	336					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGTTGGCTGATTTTTTTCGGA	0.368																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(1006-1008)atfs		aspartylglucosaminidase							115.0	111.0	112.0					4																	178352896		2203	4300	6503	SO:0001589	frameshift_variant	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178352896delT	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.1007delA	4.37:g.178352896delT	ENSP00000264595:p.Asn336fs						p.N336fs	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	9	1134	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	336					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Frame_Shift_Del	DEL	ENST00000264595.2	37	c.1007delA	CCDS3829.1																																																																																				0.368	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		8	89						8	89	---	---	---	---
DIMT1	27292	broad.mit.edu	37	5	61688029	61688029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:61688029delT	ENST00000199320.4	-	10	921	c.761delA	c.(760-762)aacfs	p.N254fs	DIMT1_ENST00000506390.1_Frame_Shift_Del_p.N254fs|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	254						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										AATTCTGTAGTTTTTTTCCAA	0.299																																						ENST00000199320.4																			0											c.(760-762)acfs		DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)							111.0	113.0	112.0					5																	61688029		2202	4296	6498	SO:0001589	frameshift_variant	27292					nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr5:61688029delT	AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.761delA	5.37:g.61688029delT	ENSP00000199320:p.Asn254fs					KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Frame_Shift_Del_p.N254fs	p.N254fs	NM_014473.2	NP_055288.1	Q9UNQ2	DIMT1_HUMAN			10	921	-			254					O76025|Q9BU77|Q9UES1	Frame_Shift_Del	DEL	ENST00000199320.4	37	c.761delA	CCDS3981.1																																																																																				0.299	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		7	185						7	185	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64415953	64415953	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:64415953delA	ENST00000262043.3	+	12	3742	c.3402delA	c.(3400-3402)ccafs	p.P1134fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.P1134fs			Q92576	PHF3_HUMAN	PHD finger protein 3	1134					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATCTTTCTCCAAAAAAAGTAA	0.358																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3400-3402)ccfs		PHD finger protein 3							102.0	96.0	98.0					6																	64415953		2203	4300	6503	SO:0001589	frameshift_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64415953delA	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3402delA	6.37:g.64415953delA	ENSP00000262043:p.Pro1134fs					PHF3_ENST00000393387.1_Frame_Shift_Del_p.P1134fs	p.P1134fs			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		12	3742	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1134					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Del	DEL	ENST00000262043.3	37	c.3402delA	CCDS4966.1																																																																																				0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			7	61						7	61	---	---	---	---
CEP41	95681	broad.mit.edu	37	7	130041784	130041785	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:130041784_130041785delTG	ENST00000223208.5	-	8	849_850	c.579_580delCA	c.(577-582)tacagtfs	p.YS193fs	CEP41_ENST00000541543.1_Frame_Shift_Del_p.YS177fs|CEP41_ENST00000343969.5_Frame_Shift_Del_p.YS193fs	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	193	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											ATTGGGTAACTGTAAGCTGCAA	0.342																																						ENST00000223208.4																			0											c.(577-582)tagtfs		centrosomal protein 41kDa																																				SO:0001589	frameshift_variant	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130041784_130041785delTG	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.579_580delCA	7.37:g.130041784_130041785delTG	ENSP00000223208:p.Tyr193fs					CEP41_ENST00000541543.1_Frame_Shift_Del_p.YS177fs|CEP41_ENST00000343969.5_Frame_Shift_Del_p.YS193fs	p.YS193fs	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			8	849_850	-			193			Rhodanese.		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Frame_Shift_Del	DEL	ENST00000223208.5	37	c.579_580delCA	CCDS5821.1																																																																																				0.342	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		7	86						7	86	---	---	---	---
SLC25A25	114789	broad.mit.edu	37	9	130866086	130866087	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:130866086_130866087insC	ENST00000373064.5	+	5	876_877	c.613_614insC	c.(613-615)gccfs	p.A205fs	SLC25A25_ENST00000433501.1_Frame_Shift_Ins_p.A102fs|SLC25A25_ENST00000373069.5_Frame_Shift_Ins_p.A251fs|SLC25A25_ENST00000432073.2_Frame_Shift_Ins_p.A225fs|SLC25A25_ENST00000373068.2_Frame_Shift_Ins_p.A239fs|SLC25A25_ENST00000373066.5_Frame_Shift_Ins_p.A237fs	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	205					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						AACCTGCACGGCCCCCCTGGAC	0.639																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(709-711)cccfs		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25																																				SO:0001589	frameshift_variant	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130866086_130866087insC	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.619dupC	9.37:g.130866092_130866092dupC	ENSP00000362155:p.Ala205fs					SLC25A25_ENST00000433501.1_Frame_Shift_Ins_p.P102fs|SLC25A25_ENST00000432073.2_Frame_Shift_Ins_p.P225fs|SLC25A25_ENST00000373064.5_Frame_Shift_Ins_p.P205fs|SLC25A25_ENST00000373068.2_Frame_Shift_Ins_p.P239fs|SLC25A25_ENST00000373069.5_Frame_Shift_Ins_p.P251fs	p.P237fs	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			6	1116_1117	+			205					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Frame_Shift_Ins	INS	ENST00000373064.5	37	c.709_710insC	CCDS6890.1																																																																																				0.639	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		16	95						16	95	---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50680468	50680469	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:50680468_50680469delAC	ENST00000355832.5	-	16	2955_2956	c.2877_2878delGT	c.(2875-2880)gtgtacfs	p.Y960fs	ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Frame_Shift_Del_p.Y330fs|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	960	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGGAGCCTGTACACAGTCACTT	0.55								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2875-2880)gtacfs	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6																																				SO:0001589	frameshift_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50680468_50680469delAC	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2877_2878delGT	10.37:g.50680470_50680471delAC	ENSP00000348089:p.Tyr960fs					RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Frame_Shift_Del_p.VY329fs	p.VY959fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			16	2955_2956	-			959			Helicase C-terminal.		D3DX94|Q5W0L9	Frame_Shift_Del	DEL	ENST00000355832.5	37	c.2877_2878delGT	CCDS7229.1																																																																																				0.550	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		8	298						8	298	---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114925494	114925494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:114925494delC	ENST00000355995.4	+	15	2130	c.1623delC	c.(1621-1623)gacfs	p.D541fs	TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.D257fs|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.D541fs|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.D518fs|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.D524fs			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	541					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|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)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TGAAGCCCGACCCCCTGGCCC	0.697			T	VTI1A	colorectal																																	ENST00000355995.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1621-1623)gafs		transcription factor 7-like 2 (T-cell specific, HMG-box)							55.0	62.0	60.0					10																	114925494		2203	4300	6503	SO:0001589	frameshift_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114925494delC	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1623delC	10.37:g.114925494delC	ENSP00000348274:p.Asp541fs					TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.D518fs|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.D541fs|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.D257fs	p.D541fs			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	15	2130	+		Breast(234;0.058)|Colorectal(252;0.0615)	541					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Frame_Shift_Del	DEL	ENST00000355995.4	37	c.1623delC																																																																																					0.697	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		49	188						49	188	---	---	---	---
TRIM5	85363	broad.mit.edu	37	11	5686351	5686352	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:5686351_5686352insT	ENST00000380034.3	-	8	1425_1426	c.1169_1170insA	c.(1168-1170)aatfs	p.N390fs	TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000305836.5_Frame_Shift_Ins_p.N390fs|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396853.4_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	390	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GATAATTTTCATTTTTTTCAAT	0.421																																						ENST00000305836.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1168-1170)agafs		tripartite motif containing 5																																				SO:0001589	frameshift_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686351_5686352insT	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1170dupA	11.37:g.5686358_5686358dupT	ENSP00000369373:p.Asn390fs					TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Frame_Shift_Ins_p.R390fs|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron	p.R390fs			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1471_1472	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	390			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Frame_Shift_Ins	INS	ENST00000380034.3	37	c.1169_1170insA	CCDS31393.1																																																																																				0.421	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		11	223						11	223	---	---	---	---
CCDC92	80212	broad.mit.edu	37	12	124422263	124422263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:124422263delT	ENST00000238156.3	-	5	692	c.338delA	c.(337-339)aacfs	p.N113fs	CCDC92_ENST00000545891.1_Frame_Shift_Del_p.N96fs|DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545135.1_Frame_Shift_Del_p.N96fs	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	113						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GATCATCGCGTTTTTCTGCTC	0.463																																						ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(286-288)acfs		coiled-coil domain containing 92							289.0	265.0	273.0					12																	124422263		2203	4300	6503	SO:0001589	frameshift_variant	80212							g.chr12:124422263delT	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.338delA	12.37:g.124422263delT	ENSP00000238156:p.Asn113fs					CCDC92_ENST00000545891.1_Frame_Shift_Del_p.N96fs|CCDC92_ENST00000238156.3_Frame_Shift_Del_p.N113fs|CCDC92_ENST00000544798.1_Intron	p.N96fs			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	3583	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		113					B3KNQ0|Q9H697	Frame_Shift_Del	DEL	ENST00000238156.3	37	c.287delA	CCDS9256.1																																																																																				0.463	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		33	415						33	415	---	---	---	---
ESRRAP2	144832	broad.mit.edu	37	13	21835723	21835728	+	RNA	DEL	GGCGAG	GGCGAG	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:21835723_21835728delGGCGAG	ENST00000427890.1	+	0	61									estrogen-related receptor alpha pseudogene 2																		GATGGACTGAGGCGAGGGGTGGGACT	0.646																																						ENST00000427890.1																			0																																																			0							g.chr13:21835723_21835728delGGCGAG	U85258		13q12.11	2011-03-15			ENSG00000235438	ENSG00000235438			24647	pseudogene	pseudogene						9344655, 3267207, 18065488	Standard	NG_007350		Approved	ESTRRA			OTTHUMG00000016534		13.37:g.21835723_21835728delGGCGAG														0	61	+									RNA	DEL	ENST00000427890.1	37																																																																																						0.646	ESRRAP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471193.1	NR_000033		5	5						5	5	---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23745310	23745310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:23745310delA	ENST00000357460.5	-	2	1291	c.1127delT	c.(1126-1128)ttafs	p.L376fs	HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L376fs*14(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCACTGTAAAAAAAAGGA	0.488																																						ENST00000357460.5																			1	Deletion - Frameshift(1)	p.L376fs*14(1)	large_intestine(1)	endometrium(5)|lung(7)	12						c.(1126-1128)tafs		homeobox and leucine zipper encoding							112.0	119.0	116.0					14																	23745310		1948	4135	6083	SO:0001589	frameshift_variant	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745310delA	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1127delT	14.37:g.23745310delA	ENSP00000350049:p.Leu376fs					HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs	p.L376fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1291	-	all_cancers(95;5.54e-06)		376					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Frame_Shift_Del	DEL	ENST00000357460.5	37	c.1127delT	CCDS45085.1																																																																																				0.488	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		22	91						22	91	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			4	9						4	9	---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25223444	25223444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:25223444delC	ENST00000400100.1	+	12	1554	c.664delC	c.(664-666)cccfs	p.P225fs	SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000444203.2_Frame_Shift_Del_p.P229fs|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P229fs|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P225fs	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	225	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGAATGAGACCCCCTCCACC	0.552									Prader-Willi syndrome																													ENST00000444203.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24						c.(676-678)ccfs		small nuclear ribonucleoprotein polypeptide N							139.0	137.0	138.0					15																	25223444		1900	4112	6012	SO:0001589	frameshift_variant	6638	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25223444delC	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.664delC	15.37:g.25223444delC	ENSP00000382972:p.Pro225fs					SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P229fs|SNRPN_ENST00000400100.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P225fs|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P225fs	p.P229fs			P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	7	1715	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	225			Repeat-rich region.		B3KVR1|P14648|P17135|Q0D2Q5	Frame_Shift_Del	DEL	ENST00000400100.1	37	c.676delC	CCDS10017.1																																																																																				0.552	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		14	256						14	256	---	---	---	---
HMGN2P46	283651	broad.mit.edu	37	15	45829639	45829640	+	RNA	INS	-	-	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:45829639_45829640insA	ENST00000409454.1	+	0	682				SNORA41_ENST00000384785.1_RNA			Q86SG4	DPCA2_HUMAN	high mobility group nucleosomal binding domain 2 pseudogene 46																		AGAAGACTTGGAAAAAAATATA	0.361																																						ENST00000409454.1																			0																																																			0							g.chr15:45829639_45829640insA	AK096745		15q15.1	2013-09-18	2011-04-05	2010-12-07	ENSG00000179362	ENSG00000179362		"""High mobility group / Nucleosome binding pseudogenes"""	26817	pseudogene	pseudogene		611314	"""chromosome 15 open reading frame 21"", ""high-mobility group nucleosomal binding domain 2 pseudogene 46"""	C15orf21		15027122, 12727900, 24043589	Standard	NR_022014		Approved	FLJ39426, D-PCa-2	uc001zvn.2	Q86SG4	OTTHUMG00000153087		15.37:g.45829646_45829646dupA														0	682	+								Q495B5|Q86SH8|Q8N8I5	RNA	INS	ENST00000409454.1	37																																																																																						0.361	HMGN2P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000329443.1	NR_022014		3	3						3	3	---	---	---	---
IDH3A	3419	broad.mit.edu	37	15	78455875	78455875	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:78455875delA	ENST00000299518.2	+	7	721	c.638delA	c.(637-639)caafs	p.Q213fs	IDH3A_ENST00000558554.1_Frame_Shift_Del_p.Q178fs|IDH3A_ENST00000441490.2_Frame_Shift_Del_p.Q104fs|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000561366.1_5'Flank	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	213					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CTTTTTCTACAAAAATGCAGG	0.303																																						ENST00000299518.2																			0				endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						c.(637-639)cafs		isocitrate dehydrogenase 3 (NAD+) alpha	NADH(DB00157)						87.0	91.0	90.0					15																	78455875		2196	4293	6489	SO:0001589	frameshift_variant	3419				carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr15:78455875delA		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.638delA	15.37:g.78455875delA	ENSP00000299518:p.Gln213fs					IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Frame_Shift_Del_p.Q178fs|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Frame_Shift_Del_p.Q104fs	p.Q213fs	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN			7	721	+			213					D3DW83|Q9H3X0	Frame_Shift_Del	DEL	ENST00000299518.2	37	c.638delA	CCDS10297.1																																																																																				0.303	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		7	147						7	147	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077919	32077920	+	RNA	INS	-	-	TTT	rs4026454|rs2359137	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:32077919_32077920insTTT	ENST00000354689.6	+	0	294				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		GAAAACGGTTATTTTTTTGTTC	0.426																																						ENST00000566806.1																			0																																																			0							g.chr16:32077919_32077920insTTT	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077923_32077925dupTTT														0	499	-									RNA	INS	ENST00000354689.6	37																																																																																						0.426	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			2	4						2	4	---	---	---	---
AC015922.5	0	broad.mit.edu	37	17	15737072	15737073	+	RNA	INS	-	-	TTTA			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:15737072_15737073insTTTA	ENST00000584636.1	+	0	316																											CTCTATCCTGCTTTATCTTGGA	0.46																																						ENST00000584636.1																			0																																																			0							g.chr17:15737072_15737073insTTTA																													17.37:g.15737073_15737076dupTTTA														0	316	+									RNA	INS	ENST00000584636.1	37																																																																																						0.460	AC015922.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444654.1			2	4						2	4	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaaagfs	p.K523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATAAGTCCTTTCCCCCCACTC	0.52											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1564-1569)ggaggafs		alpha-kinase 2																																				SO:0001589	frameshift_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246441_56246442insC	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1566_1567insG	18.37:g.56246441_56246442insC	ENSP00000354991:p.Lys523fs		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	ALPK2_ENST00000587399.1_5'UTR	p.G523fs	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1779_1780	-			523					Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Ins	INS	ENST00000361673.3	37	c.1566_1567insG	CCDS11966.2																																																																																				0.520	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		51	286						51	286	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55324675	55324675	+	Intron	DEL	A	A	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:55324675delA	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000396284.2_Frame_Shift_Del_p.K268fs|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.M271fs*>3(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532																																						ENST00000396284.2																			1	Deletion - Frameshift(1)	p.M271fs*>3(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17						c.(796-798)aafs		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4			,,	51,3917		3,45,1936	66.0	101.0	90.0		,,	-1.0	0.0	19	dbSNP_134	94	51,8005		2,47,3979	no	frameshift,frameshift,intron	KIR2DL4	NM_002255.5,NM_001080772.1,NM_001080770.1	,,	5,92,5915	A1A1,A1R,RR		0.6331,1.2853,0.8483	,,	,,	55324675	102,11922	2077	4226	6303	SO:0001627	intron_variant	0							g.chr19:55324675delA	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-4314A>-	19.37:g.55324675delA						KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs	p.K268fs						GBM - Glioblastoma multiforme(193;0.0192)	6	796	+								O43473|Q14946|Q16541	Frame_Shift_Del	DEL	ENST00000538269.1	37	c.796delA																																																																																					0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		2	4						2	4	---	---	---	---
